#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TAS1R3	83756	broad.mit.edu	37	1	1267812	1267812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:1267812G>A	ENST00000339381.5	+	3	933	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	301					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E301K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGTGGCCAGCGAGGCCTGGCT	0.672																																							uc010nyk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GAG>AAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						25.0	23.0	23.0					1																	1267812		2187	4288	6475	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267812G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.901G>A	1.37:g.1267812G>A	ENSP00000344411:p.Glu301Lys						p.E301K	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	901	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	301			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.901G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385072	0.82792	.	.	ENSG00000169962	ENST00000339381	D	0.87103	-2.21	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.273554	0.36101	N	0.002796	D	0.93572	0.7948	M	0.90309	3.105	0.45076	D	0.998092	D	0.63880	0.993	P	0.57101	0.813	D	0.95078	0.8210	10	0.87932	D	0	.	17.986	0.89156	0.0:0.0:1.0:0.0	.	301	Q7RTX0	TS1R3_HUMAN	K	301	ENSP00000344411:E301K	ENSP00000344411:E301K	E	+	1	0	TAS1R3	1257675	1.000000	0.71417	0.969000	0.41365	0.877000	0.50540	4.844000	0.62846	2.251000	0.74343	0.561000	0.74099	GAG		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			8	8	0	0	0	0.004482	0	8	8				
CFAP74	85452	broad.mit.edu	37	1	1853744	1853744	+	IGR	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:1853744C>A								TMEM52 (3032 upstream) : C1orf222 (65818 downstream)																							CAGTCAACACCTGGGCTACAA	0.617																																							uc001aik.2		NA																	0					NA						c.(898-900)CAG>CAT		RecName: Full=Uncharacterized protein C1orf222;							95.0	81.0	86.0					1																	1853744		2202	4299	6501	SO:0001628	intergenic_variant	0							g.chr1:1853744C>A																													1.37:g.1853744C>A						uc001ail.2_Missense_Mutation_p.Q300H	p.Q300H							11	1750	-									Missense_Mutation	SNP		37	c.900G>T		.	.	.	.	.	.	.	.	.	.	.	0.219	-1.030143	0.02045	.	.	ENSG00000142609	ENST00000493964	T	0.22134	1.97	3.45	0.0362	0.14191	.	0.520434	0.16407	N	0.215771	T	0.10723	0.0262	N	0.25890	0.77	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.21861	-1.0233	10	0.10111	T	0.7	.	6.9287	0.24429	0.2823:0.5197:0.1981:0.0	.	300	Q69YW0	CA222_HUMAN	H	862	ENSP00000417061:Q862H	ENSP00000417061:Q862H	Q	-	3	2	C1orf222	1843604	0.169000	0.23002	0.982000	0.44146	0.843000	0.47879	-0.291000	0.08343	0.247000	0.21414	0.484000	0.47621	CAG	0	0.617									22	29	1	0	2.3814e-25	0.00333	4.34132e-25	22	29				
PLCH2	9651	broad.mit.edu	37	1	2435853	2435853	+	Missense_Mutation	SNP	C	C	A	rs372578944		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:2435853C>A	ENST00000419816.2	+	22	3726	c.3452C>A	c.(3451-3453)tCc>tAc	p.S1151Y	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.S1115Y|PLCH2_ENST00000378486.3_Missense_Mutation_p.S1151Y			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1151					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCATGTCATCCAGCGACACT	0.682																																							uc001aji.1		NA																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(3451-3453)TCC>TAC		phospholipase C, eta 2		C	TYR/SER	0,4382		0,0,2191	41.0	45.0	44.0		3452	4.6	0.0	1		44	1,8549		0,1,4274	no	missense	PLCH2	NM_014638.2	144	0,1,6465	AA,AC,CC		0.0117,0.0,0.0077	probably-damaging	1151/1417	2435853	1,12931	2191	4275	6466	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2435853C>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3452C>A	1.37:g.2435853C>A	ENSP00000389803:p.Ser1151Tyr					PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.S903Y|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.S3Y	p.S1151Y	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	3726	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1151					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3452C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.896798|2.896798	0.52121|0.52121	0.0|0.0	1.17E-4|1.17E-4	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000378486;ENST00000378488;ENST00000278878	.|T;T	.|0.50277	.|1.06;0.75	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|119.329000	.|0.00166	.|U	.|0.000001	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.996;0.998	T|T	0.49390|0.49390	-0.8945|-0.8945	5|10	.|0.62326	.|D	.|0.03	.|.	16.4325|16.4325	0.83859|0.83859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|903;1151	.|B9DI82;O75038	.|.;PLCH2_HUMAN	T|Y	446|1151;1115;903	.|ENSP00000367747:S1151Y;ENSP00000367749:S1115Y	.|ENSP00000278878:S903Y	P|S	+|+	1|2	0|0	PLCH2|PLCH2	2425713|2425713	1.000000|1.000000	0.71417|0.71417	0.026000|0.026000	0.17262|0.17262	0.008000|0.008000	0.06430|0.06430	7.265000|7.265000	0.78442|0.78442	2.119000|2.119000	0.64992|0.64992	0.462000|0.462000	0.41574|0.41574	CCA|TCC		0.682	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		17	30	1	0	6.94344e-10	0.006122	9.19416e-10	17	30				
CAMTA1	23261	broad.mit.edu	37	1	7527931	7527931	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:7527931C>T	ENST00000303635.7	+	6	687	c.480C>T	c.(478-480)acC>acT	p.T160T	CAMTA1_ENST00000439411.2_Silent_p.T160T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCATCCCCACCTTCCACCGGA	0.547			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(478-480)ACC>ACT		calmodulin-binding transcription activator 1							250.0	229.0	236.0					1																	7527931		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7527931C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.480C>T	1.37:g.7527931C>T							p.T160T	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	6	687	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	160			CG-1.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.480C>T	CCDS30576.1																																																																																				0.547	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		49	91	0	0	0	0.00361	0	49	91				
SLC45A1	50651	broad.mit.edu	37	1	8390674	8390674	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:8390674A>G	ENST00000471889.1	+	5	1506	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D374G|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D408G|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	374					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAACATAGACAGCGTCCTC	0.662																																							uc001apb.2		NA																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1120-1122)GAC>GGC		DNB5							56.0	55.0	56.0					1																	8390674		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390674A>G	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1121A>G	1.37:g.8390674A>G	ENSP00000418096:p.Asp374Gly					SLC45A1_uc001apc.2_Missense_Mutation_p.D72G	p.D374G	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1121	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	374					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1121A>G	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996653	0.74818	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.36340	1.33;1.26;1.33	4.66	4.66	0.58398	.	0.090010	0.85682	D	0.000000	T	0.55721	0.1938	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56463	-0.7975	10	0.46703	T	0.11	-42.7508	13.2772	0.60194	1.0:0.0:0.0:0.0	.	374	Q9Y2W3	S45A1_HUMAN	G	374;408;374	ENSP00000418096:D374G;ENSP00000366699:D408G;ENSP00000289877:D374G	ENSP00000289877:D374G	D	+	2	0	SLC45A1	8313261	1.000000	0.71417	0.997000	0.53966	0.817000	0.46193	8.850000	0.92190	1.723000	0.51488	0.459000	0.35465	GAC		0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			10	24	0	0	0	0.008291	0	10	24				
PRAMEF2	65122	broad.mit.edu	37	1	12921424	12921424	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:12921424C>A	ENST00000240189.2	+	4	1302	c.1215C>A	c.(1213-1215)agC>agA	p.S405R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	405					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCTGAGCAAGTTAAGCC	0.552																																							uc001aum.1		NA																	0					0						c.(1213-1215)AGC>AGA		PRAME family member 2							51.0	55.0	54.0					1																	12921424		2200	4293	6493	SO:0001583	missense	65122							g.chr1:12921424C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1215C>A	1.37:g.12921424C>A	ENSP00000240189:p.Ser405Arg						p.S405R	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1302	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	405						Missense_Mutation	SNP	ENST00000240189.2	37	c.1215C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	2.216	-0.379501	0.05000	.	.	ENSG00000120952	ENST00000240189	T	0.11063	2.81	0.824	0.824	0.18818	.	1.183790	0.05877	N	0.625725	T	0.14184	0.0343	M	0.72894	2.215	0.09310	N	1	B	0.14438	0.01	B	0.20767	0.031	T	0.37430	-0.9706	10	0.45353	T	0.12	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	405	O60811	PRAM2_HUMAN	R	405	ENSP00000240189:S405R	ENSP00000240189:S405R	S	+	3	2	PRAMEF2	12844011	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.679000	0.05203	0.748000	0.32831	0.173000	0.16961	AGC		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		36	75	1	0	1.47244e-24	0.00623	2.66073e-24	36	75				
RSC1A1	6248	broad.mit.edu	37	1	15987376	15987376	+	Missense_Mutation	SNP	G	G	T	rs544843827	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:15987376G>T	ENST00000345034.1	+	1	1013	c.1013G>T	c.(1012-1014)tGt>tTt	p.C338F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	338					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGCAGTTGTCAGCCTTCT	0.433																																							uc010obn.1		NA																	0				ovary(1)	1						c.(1012-1014)TGT>TTT		regulatory solute carrier protein, family 1,							61.0	60.0	60.0					1																	15987376		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987376G>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1013G>T	1.37:g.15987376G>T	ENSP00000341963:p.Cys338Phe						p.C338F	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1013	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	338					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1013G>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064936	0.20067	.	.	ENSG00000215695	ENST00000345034	T	0.23348	1.91	5.96	4.08	0.47627	.	0.536789	0.17134	N	0.185737	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.54100	0.742	T	0.05971	-1.0853	10	0.25106	T	0.35	-22.3662	7.9476	0.29995	0.1802:0.0:0.8198:0.0	.	338	Q92681	RSCA1_HUMAN	F	338	ENSP00000341963:C338F	ENSP00000341963:C338F	C	+	2	0	RSC1A1	15859963	0.005000	0.15991	0.904000	0.35570	0.234000	0.25298	0.754000	0.26390	2.832000	0.97577	0.655000	0.94253	TGT		0.433	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		13	37	1	0	2.27111e-07	0.001368	2.78718e-07	13	37				
PAX7	5081	broad.mit.edu	37	1	19018324	19018324	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19018324G>C	ENST00000375375.3	+	5	1261	c.663G>C	c.(661-663)cgG>cgC	p.R221R	PAX7_ENST00000420770.2_Silent_p.R221R|PAX7_ENST00000400661.3_Silent_p.R219R	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	221					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GACGCAGTCGGACCACATTCA	0.637			T	FOXO1A	alveolar rhabdomyosarcoma																																		uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(661-663)CGG>CGC		paired box 7 isoform 1							41.0	35.0	37.0					1																	19018324		2202	4300	6502	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018324G>C	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.663G>C	1.37:g.19018324G>C						PAX7_uc001baz.2_Silent_p.R219R|PAX7_uc010oct.1_Silent_p.R221R	p.R221R	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	1261	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	221			Homeobox.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.663G>C	CCDS186.1																																																																																				0.637	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		7	11	0	0	0	0.001984	0	7	11				
UBR4	23352	broad.mit.edu	37	1	19467338	19467338	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19467338T>C	ENST00000375254.3	-	58	8564	c.8537A>G	c.(8536-8538)cAg>cGg	p.Q2846R	UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Missense_Mutation_p.Q2846R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2846					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTGCCTGGCCGGACAG	0.632																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(8536-8538)CAG>CGG		retinoblastoma-associated factor 600							60.0	54.0	56.0					1																	19467338		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19467338T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8537A>G	1.37:g.19467338T>C	ENSP00000364403:p.Gln2846Arg					UBR4_uc001bbk.1_Intron	p.Q2846R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	58	8541	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2846					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8537A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902300	0.33628	.	.	ENSG00000127481	ENST00000375254;ENST00000375267	T;T	0.24908	1.83;1.83	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	N	0.12182	0.205	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.10405	-1.0631	10	0.15952	T	0.53	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	2846	Q5T4S7	UBR4_HUMAN	R	2846	ENSP00000364403:Q2846R;ENSP00000364416:Q2846R	ENSP00000364403:Q2846R	Q	-	2	0	UBR4	19339925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.291000	0.77112	0.533000	0.62120	CAG		0.632	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	9	0	0	0	0.004482	0	8	9				
UBR4	23352	broad.mit.edu	37	1	19511665	19511665	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19511665C>A	ENST00000375254.3	-	15	1893	c.1866G>T	c.(1864-1866)cgG>cgT	p.R622R	UBR4_ENST00000375217.2_Silent_p.R622R|UBR4_ENST00000375226.2_Silent_p.R622R|UBR4_ENST00000375267.2_Silent_p.R622R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	622	Pro-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTTTAACCCGAGGAGAGC	0.527																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(1864-1866)CGG>CGT		retinoblastoma-associated factor 600							147.0	167.0	161.0					1																	19511665		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19511665C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1866G>T	1.37:g.19511665C>A							p.R622R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	15	1870	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	622			Pro-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.1866G>T	CCDS189.1																																																																																				0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		57	139	1	0	7.10676e-39	0.00361	1.35197e-38	57	139				
HSPG2	3339	broad.mit.edu	37	1	22181236	22181236	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:22181236C>A	ENST00000374695.3	-	49	6235	c.6156G>T	c.(6154-6156)ccG>ccT	p.P2052P	HSPG2_ENST00000430507.1_Silent_p.P2P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2052	Ig-like C2-type 6.			P -> G (in Ref. 1; AAA52700). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAATCTTGACCGGCGGTGGGC	0.637																																							uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6154-6156)CCG>CCT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						46.0	48.0	48.0					1																	22181236		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22181236C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6156G>T	1.37:g.22181236C>A						HSPG2_uc009vqd.2_Silent_p.P2053P	p.P2052P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	49	6196	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2052	P -> G (in Ref. 1; AAA52700).		Ig-like C2-type 6.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6156G>T	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	10	1	0	6.4e-05	0.004672	7.21159e-05	3	10				
IFNLR1	163702	broad.mit.edu	37	1	24484118	24484118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:24484118C>G	ENST00000327535.1	-	7	1077	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q326H|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	355					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GCCCTGGAGCCTGGTGCTCTT	0.597																																							uc001bis.2		NA																	0					0						c.(1063-1065)CAG>CAC		interleukin 28 receptor, alpha isoform 1							77.0	74.0	75.0					1																	24484118		2203	4300	6503	SO:0001583	missense	163702				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	g.chr1:24484118C>G	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1065G>C	1.37:g.24484118C>G	ENSP00000327824:p.Gln355His					IL28RA_uc001bir.2_Missense_Mutation_p.Q326H|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.Q271H	p.Q355H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	7	1078	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	355			Cytoplasmic (Potential).		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.1065G>C	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699098	0.48307	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	1.24	0.21308	.	2.706620	0.00718	N	0.000868	T	0.52677	0.1749	L	0.50333	1.59	0.09310	N	1	D;D	0.61080	0.98;0.989	P;P	0.56474	0.635;0.799	T	0.27905	-1.0060	9	0.52906	T	0.07	-1.6122	6.4852	0.22085	0.0:0.5669:0.0:0.4331	.	355;326	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	H	355;326	.	ENSP00000327824:Q355H	Q	-	3	2	IL28RA	24356705	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.981000	0.29526	0.448000	0.26722	-0.150000	0.13652	CAG		0.597	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		17	24	0	0	0	0.00499	0	17	24				
ARID1A	8289	broad.mit.edu	37	1	27087527	27087527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:27087527G>T	ENST00000324856.7	+	5	2472	c.2101G>T	c.(2101-2103)Ggc>Tgc	p.G701C	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Missense_Mutation_p.G701C|ARID1A_ENST00000374152.2_Missense_Mutation_p.G318C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	701					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCCCTGTTGGCTCTCCCGC	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2101-2103)GGC>TGC		AT rich interactive domain 1A isoform a							68.0	65.0	66.0					1																	27087527		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087527G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2101G>T	1.37:g.27087527G>T	ENSP00000320485:p.Gly701Cys					ARID1A_uc001bmt.1_Missense_Mutation_p.G701C|ARID1A_uc001bmu.1_Missense_Mutation_p.G701C|ARID1A_uc001bmw.1_Missense_Mutation_p.G318C	p.G701C	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	5	2474	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	701					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2101G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437344	0.96168	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.26067	1.76;1.76;4.0	5.95	5.95	0.96441	.	0.049885	0.85682	D	0.000000	T	0.54398	0.1856	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.53070	-0.8490	10	0.87932	D	0	-10.7546	20.3931	0.98965	0.0:0.0:1.0:0.0	.	701;701;355	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	C	701;701;318	ENSP00000320485:G701C;ENSP00000387636:G701C;ENSP00000363267:G318C	ENSP00000320485:G701C	G	+	1	0	ARID1A	26960114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GGC		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	33	1	0	1.64293e-13	0.00333	2.43987e-13	23	33				
GPATCH3	63906	broad.mit.edu	37	1	27220829	27220829	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:27220829T>A	ENST00000361720.5	-	3	972	c.949A>T	c.(949-951)Act>Tct	p.T317S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	317	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCTCAGTGGTCCGCTCC	0.572																																							uc001bne.2		NA																	0					0						c.(949-951)ACT>TCT		G patch domain containing 3							188.0	159.0	169.0					1																	27220829		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27220829T>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.949A>T	1.37:g.27220829T>A	ENSP00000354645:p.Thr317Ser					GPATCH3_uc009vsp.1_Missense_Mutation_p.T128S	p.T317S	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	3	978	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	317			Glu-rich.		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.949A>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752317	0.31046	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.42900	0.96	4.89	-1.7	0.08159	.	0.421858	0.25299	N	0.031675	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06552	-1.0820	10	0.42905	T	0.14	-1.6528	1.1446	0.01772	0.213:0.2541:0.1091:0.4238	.	317	Q96I76	GPTC3_HUMAN	S	317;299;128	ENSP00000354645:T317S	ENSP00000354645:T317S	T	-	1	0	GPATCH3	27093416	0.056000	0.20664	0.431000	0.26735	0.828000	0.46876	-0.063000	0.11655	0.045000	0.15804	0.460000	0.39030	ACT		0.572	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		25	91	0	0	0	0.00632	0	25	91				
RCC1	1104	broad.mit.edu	37	1	28861844	28861844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:28861844G>T	ENST00000373833.6	+	9	898	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	RCC1_ENST00000373831.3_Missense_Mutation_p.G236C|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Missense_Mutation_p.G205C|RCC1_ENST00000398958.2_Missense_Mutation_p.G205C			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	205					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAGCTAGGCCGTGTGCC	0.587																																							uc001bqg.1		NA																	0				ovary(1)	1						c.(613-615)GGC>TGC		regulator of chromosome condensation 1 isoform							95.0	87.0	90.0					1																	28861844		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28861844G>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.613G>T	1.37:g.28861844G>T	ENSP00000362939:p.Gly205Cys					SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.G205C|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.G205C|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.G205C|RCC1_uc001bqe.1_Missense_Mutation_p.G222C|RCC1_uc001bqf.1_Missense_Mutation_p.G236C	p.G205C	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	698	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	205			RCC1 4.		Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.613G>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087633	0.94100	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.56	5.56	0.83823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.044557	0.85682	D	0.000000	D	0.99357	0.9774	M	0.93016	3.37	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	0.98974	1.0802	10	0.87932	D	0	-17.1865	18.2548	0.90016	0.0:0.0:1.0:0.0	.	236;222;205	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	C	205;205;241;205;205;205;236;222;205	ENSP00000381931:G205C;ENSP00000402740:G205C;ENSP00000405258:G241C;ENSP00000362939:G205C;ENSP00000402260:G205C;ENSP00000362938:G205C;ENSP00000362937:G236C;ENSP00000413644:G222C;ENSP00000394650:G205C	ENSP00000362937:G236C	G	+	1	0	RCC1	28734431	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.465000	0.80898	2.890000	0.99128	0.655000	0.94253	GGC		0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		15	34	1	0	3.27435e-08	0.00245	4.14541e-08	15	34				
SRSF4	6429	broad.mit.edu	37	1	29481229	29481229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:29481229G>T	ENST00000373795.4	-	4	791	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	186	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CCGGCTTCTGGAGTAGGACCG	0.403																																							uc001bro.2		NA																	0					0						c.(556-558)TCC>TAC		splicing factor, arginine/serine-rich 4							87.0	89.0	88.0					1																	29481229		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29481229G>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.557C>A	1.37:g.29481229G>T	ENSP00000362900:p.Ser186Tyr					SFRS4_uc010ofy.1_Intron|SFRS4_uc009vtp.2_RNA	p.S186Y	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	4	930	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	186			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.557C>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182972	0.78677	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.34072	1.38	5.47	5.47	0.80525	.	0.100642	0.64402	D	0.000001	T	0.57388	0.2050	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.53788	-0.8389	10	0.48119	T	0.1	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	186	Q08170	SRSF4_HUMAN	Y	186	ENSP00000362900:S186Y	ENSP00000362900:S186Y	S	-	2	0	SRSF4	29353816	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.307000	0.96226	2.708000	0.92522	0.650000	0.86243	TCC		0.403	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		19	25	1	0	9.95505e-16	0.002299	1.55696e-15	19	25				
COL16A1	1307	broad.mit.edu	37	1	32162668	32162668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:32162668C>A	ENST00000373672.3	-	8	1276	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S	COL16A1_ENST00000373668.3_Missense_Mutation_p.A254S|COL16A1_ENST00000271069.6_Missense_Mutation_p.A254S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	254	Nonhelical region 10 (NC10).				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)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCGGCGGGCCTTGGAGGTC	0.587																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(760-762)GCC>TCC		alpha 1 type XVI collagen precursor							88.0	98.0	95.0					1																	32162668		1944	4132	6076	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32162668C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.760G>T	1.37:g.32162668C>A	ENSP00000362776:p.Ala254Ser					COL16A1_uc001btj.1_Missense_Mutation_p.A83S|COL16A1_uc001btl.3_Missense_Mutation_p.A254S	p.A254S	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	8	1125	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	254			Nonhelical region 10 (NC10).		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.760G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	9.163	1.019212	0.19355	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.67171	-0.25;-0.25;-0.25	4.87	1.45	0.22620	.	0.471667	0.21896	N	0.067508	T	0.43942	0.1270	L	0.32530	0.975	0.24359	N	0.994886	B;B;B	0.27656	0.184;0.0;0.0	B;B;B	0.23574	0.047;0.001;0.001	T	0.18903	-1.0322	10	0.08599	T	0.76	.	4.2464	0.10674	0.4337:0.3785:0.0:0.1877	.	254;254;254	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	254	ENSP00000362776:A254S;ENSP00000271069:A254S;ENSP00000362772:A254S	ENSP00000271069:A254S	A	-	1	0	COL16A1	31935255	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.211000	0.32382	0.369000	0.24510	0.655000	0.94253	GCC		0.587	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		19	58	1	0	1.28384e-07	0.001882	1.59183e-07	19	58				
CSMD2	114784	broad.mit.edu	37	1	34123566	34123566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:34123566G>T	ENST00000373380.1	-	6	1266	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	CSMD2_ENST00000373381.4_Missense_Mutation_p.P1476H|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1436	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCGGGCTGGGCTGCCAGAA	0.592																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(4306-4308)CCC>CAC		CUB and Sushi multiple domains 2							111.0	103.0	106.0					1																	34123566		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123566G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1046C>A	1.37:g.34123566G>T	ENSP00000362478:p.Pro349His					CSMD2_uc001bxm.1_Missense_Mutation_p.P1476H|CSMD2_uc001bxo.1_Missense_Mutation_p.P349H	p.P1436H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			27	4336	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1436			Extracellular (Potential).|Sushi 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4307C>A		.	.	.	.	.	.	.	.	.	.	g	29.6	5.022108	0.93462	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.25250	1.81;1.81	5.78	5.78	0.91487	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.97110	1.0;0.995;0.95	T	0.40887	-0.9539	10	0.51188	T	0.08	.	19.0093	0.92867	0.0:0.0:1.0:0.0	.	349;1436;1476	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1476;349	ENSP00000362479:P1476H;ENSP00000362478:P349H	ENSP00000241312:P1436H	P	-	2	0	CSMD2	33896153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.737000	0.93849	0.558000	0.71614	CCC		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		24	44	1	0	1.5548e-18	0.005443	2.57113e-18	24	44				
CSMD2	114784	broad.mit.edu	37	1	34286079	34286079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:34286079G>T	ENST00000373381.4	-	8	1366	c.1190C>A	c.(1189-1191)tCg>tAg	p.S397*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	357	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGAAATCCGAGCCTAGTCT	0.488																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(1069-1071)TCG>TAG		CUB and Sushi multiple domains 2							197.0	189.0	192.0					1																	34286079		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286079G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1190C>A	1.37:g.34286079G>T	ENSP00000362479:p.Ser397*					CSMD2_uc001bxm.1_Nonsense_Mutation_p.S397*	p.S357*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			8	1099	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	357			Extracellular (Potential).|Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37	c.1070C>A		.	.	.	.	.	.	.	.	.	.	G	41	9.156861	0.99084	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.66	5.66	0.87406	.	0.228496	0.37483	N	0.002078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2459	0.65988	0.0:0.0:0.8416:0.1584	.	.	.	.	X	397	.	ENSP00000241312:S357X	S	-	2	0	CSMD2	34058666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.605000	0.82844	2.669000	0.90835	0.655000	0.94253	TCG		0.488	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		47	113	1	0	1.11015e-26	0.00361	2.04188e-26	47	113				
ZMYM6	9204	broad.mit.edu	37	1	35457958	35457958	+	Missense_Mutation	SNP	G	G	A	rs372430082		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:35457958G>A	ENST00000357182.4	-	15	2250	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	ZMYM6_ENST00000373340.2_Missense_Mutation_p.P675S|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P675S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	675					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGGAAGATGGAAATTTCATA	0.383																																							uc001byh.2		NA																	0				ovary(3)	3						c.(2023-2025)CCA>TCA		zinc finger protein 258							155.0	146.0	149.0					1																	35457958		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35457958G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2023C>T	1.37:g.35457958G>A	ENSP00000349708:p.Pro675Ser					ZMYM6_uc001byf.1_Missense_Mutation_p.P675S|ZMYM6_uc010oht.1_Missense_Mutation_p.P578S|ZMYM6_uc009vup.2_Missense_Mutation_p.P481S|ZMYM6_uc009vuq.1_Missense_Mutation_p.P675S	p.P675S	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			15	2251	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	675					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.2023C>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	1.497	-0.553172	0.03996	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.24151	1.87;2.98	1.5	-2.33	0.06724	.	1.201270	0.06141	N	0.672377	T	0.14527	0.0351	L	0.27053	0.805	0.25709	N	0.985505	B;B;B	0.27380	0.004;0.177;0.132	B;B;B	0.33846	0.006;0.131;0.171	T	0.30149	-0.9988	10	0.14252	T	0.57	5.5111	0.489	0.00561	0.1866:0.245:0.3211:0.2473	.	578;675;675	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	675	ENSP00000362437:P675S;ENSP00000349708:P675S	ENSP00000349708:P675S	P	-	1	0	ZMYM6	35230545	0.980000	0.34600	0.099000	0.21106	0.257000	0.26127	-0.007000	0.12810	-0.755000	0.04709	-0.237000	0.12165	CCA		0.383	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		25	40	0	0	0	0.003954	0	25	40				
ZMYM4	9202	broad.mit.edu	37	1	35852719	35852719	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:35852719C>T	ENST00000314607.6	+	12	2032	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S562F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	651					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTAGCACATCTGCTGTTTCT	0.537																																							uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1951-1953)TCT>TTT		zinc finger protein 262							103.0	81.0	88.0					1																	35852719		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35852719C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1952C>T	1.37:g.35852719C>T	ENSP00000322915:p.Ser651Phe					ZMYM4_uc009vuu.2_Missense_Mutation_p.S619F|ZMYM4_uc001byu.2_Missense_Mutation_p.S327F|ZMYM4_uc009vuv.2_Missense_Mutation_p.S390F	p.S651F	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			12	2032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	651					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1952C>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400993	0.42613	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25250	1.81;1.84	5.66	5.66	0.87406	.	0.354653	0.30528	N	0.009428	T	0.32010	0.0815	L	0.60455	1.87	0.45914	D	0.998757	B	0.09022	0.002	B	0.10450	0.005	T	0.05451	-1.0884	10	0.56958	D	0.05	-5.2074	19.7395	0.96220	0.0:1.0:0.0:0.0	.	651	Q5VZL5	ZMYM4_HUMAN	F	651;562	ENSP00000322915:S651F;ENSP00000362394:S562F	ENSP00000322915:S651F	S	+	2	0	ZMYM4	35625306	0.997000	0.39634	0.978000	0.43139	0.360000	0.29518	5.836000	0.69375	2.669000	0.90835	0.655000	0.94253	TCT		0.537	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		14	22	0	0	0	0.00245	0	14	22				
AGO4	192670	broad.mit.edu	37	1	36299636	36299636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36299636G>T	ENST00000373210.3	+	12	1670	c.1425G>T	c.(1423-1425)atG>atT	p.M475I		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	475					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ATGCAGGAATGCCCATCCAGG	0.433																																							uc001bzj.1		NA																	0				ovary(1)	1						c.(1423-1425)ATG>ATT		eukaryotic translation initiation factor 2C, 4							111.0	109.0	110.0					1																	36299636		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36299636G>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1425G>T	1.37:g.36299636G>T	ENSP00000362306:p.Met475Ile						p.M475I	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			12	1615	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	475					A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1425G>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472955	0.84640	.	.	ENSG00000134698	ENST00000373210	T	0.05996	3.36	5.47	5.47	0.80525	.	0.034442	0.85682	D	0.000000	T	0.16428	0.0395	M	0.86805	2.84	0.80722	D	1	B	0.29531	0.247	B	0.33196	0.159	T	0.04752	-1.0929	10	0.25751	T	0.34	-19.6023	19.3389	0.94334	0.0:0.0:1.0:0.0	.	475	Q9HCK5	AGO4_HUMAN	I	475	ENSP00000362306:M475I	ENSP00000362306:M475I	M	+	3	0	EIF2C4	36072223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.841000	0.99482	2.593000	0.87608	0.655000	0.94253	ATG		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		20	44	1	0	5.35356e-11	0.00278	7.35923e-11	20	44				
AGO1	26523	broad.mit.edu	37	1	36354197	36354197	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36354197C>T	ENST00000373204.4	+	2	408	c.195C>T	c.(193-195)ccC>ccT	p.P65P	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	65					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ATAAGTGTCCCCGTAGAGTCA	0.488																																							uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(193-195)CCC>CCT		eukaryotic translation initiation factor 2C, 1							86.0	77.0	80.0					1																	36354197		2203	4300	6503	SO:0001819	synonymous_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36354197C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.195C>T	1.37:g.36354197C>T						EIF2C1_uc001bzk.2_5'UTR	p.P65P	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			2	408	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	65					Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.195C>T	CCDS398.1																																																																																				0.488	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			13	34	0	0	0	0.001368	0	13	34				
COL8A2	1296	broad.mit.edu	37	1	36563225	36563225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36563225T>C	ENST00000397799.1	-	4	2281	c.2057A>G	c.(2056-2058)tAc>tGc	p.Y686C	COL8A2_ENST00000481785.1_Missense_Mutation_p.Y621C|COL8A2_ENST00000303143.4_Missense_Mutation_p.Y686C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	686	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCGTGGAGTAGAGGCCGTT	0.647																																							uc001bzv.1		NA																	0				central_nervous_system(1)	1						c.(2056-2058)TAC>TGC		collagen, type VIII, alpha 2 precursor							44.0	48.0	46.0					1																	36563225		2203	4300	6503	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563225T>C	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.2057A>G	1.37:g.36563225T>C	ENSP00000380901:p.Tyr686Cys					COL8A2_uc001bzw.1_Missense_Mutation_p.Y621C	p.Y686C	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	2064	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	686			C1q.|Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.2057A>G	CCDS403.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844420	0.71488	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	T;T;T	0.76448	-1.02;-1.02;-1.02	5.05	5.05	0.67936	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92576	0.6070	10	0.66056	D	0.02	.	14.9605	0.71153	0.0:0.0:0.0:1.0	.	686	P25067	CO8A2_HUMAN	C	686;686;621;410	ENSP00000305913:Y686C;ENSP00000380901:Y686C;ENSP00000436433:Y621C	ENSP00000305913:Y686C	Y	-	2	0	COL8A2	36335812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.525000	0.81892	2.117000	0.64856	0.460000	0.39030	TAC		0.647	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	28	0	0	0	0.008291	0	11	28				
SH3D21	79729	broad.mit.edu	37	1	36786094	36786094	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36786094G>T	ENST00000426732.2	+	13	1767	c.1482G>T	c.(1480-1482)agG>agT	p.R494S	SH3D21_ENST00000453908.2_Missense_Mutation_p.R610S|SH3D21_ENST00000312808.4_Missense_Mutation_p.R256S|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.R499S|EVA1B_ENST00000490466.1_5'Flank			A4FU49	SH321_HUMAN	SH3 domain containing 21	494						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						ACGAGCAGAGGCCTCTGAGAG	0.592																																							uc010oia.1		NA																	0					0						c.(1828-1830)AGG>AGT		SH3 domain-containing protein C1orf113 isoform							36.0	43.0	41.0					1																	36786094		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36786094G>T	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1482G>T	1.37:g.36786094G>T	ENSP00000408613:p.Arg494Ser					C1orf113_uc010oib.1_Missense_Mutation_p.R499S|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.R256S	p.R610S	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN			14	1858	+		Myeloproliferative disorder(586;0.0393)	494					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1830G>T		.	.	.	.	.	.	.	.	.	.	G	8.238	0.806141	0.16467	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.50277	1.24;1.75;0.75;1.67	0.427	-0.594	0.11664	.	18.525100	0.00397	N	0.000040	T	0.31040	0.0784	L	0.36672	1.1	0.18873	N	0.999983	P;B	0.36837	0.571;0.276	B;B	0.30646	0.118;0.03	T	0.08249	-1.0731	10	0.08837	T	0.75	.	4.6269	0.12482	0.2992:0.0:0.7008:0.0	.	499;494	A4FU49-3;A4FU49	.;SH321_HUMAN	S	610;494;256;499	ENSP00000403476:R610S;ENSP00000408613:R494S;ENSP00000321936:R256S;ENSP00000421294:R499S	ENSP00000321936:R256S	R	+	3	2	SH3D21	36558681	0.174000	0.23070	0.002000	0.10522	0.002000	0.02628	-0.129000	0.10515	-0.384000	0.07845	-0.373000	0.07131	AGG		0.592	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		13	32	1	0	1.5842e-08	0.001855	2.03602e-08	13	32				
RRAGC	64121	broad.mit.edu	37	1	39317399	39317399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:39317399C>A	ENST00000373001.3	-	5	963	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CTGACAACATCAAAGAGAAAA	0.338																																							uc001ccq.2		NA																	0				ovary(1)	1						c.(787-789)GAT>TAT		Ras-related GTP binding C							110.0	109.0	110.0					1																	39317399		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39317399C>A	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.787G>T	1.37:g.39317399C>A	ENSP00000362092:p.Asp263Tyr					RRAGC_uc010oim.1_Missense_Mutation_p.D229Y|RRAGC_uc001ccr.2_Missense_Mutation_p.D185Y	p.D263Y	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN			5	809	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	263						Missense_Mutation	SNP	ENST00000373001.3	37	c.787G>T	CCDS430.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851864	0.91355	.	.	ENSG00000116954	ENST00000373001	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89466	0.3740	9	0.87932	D	0	-27.2928	20.5407	0.99260	0.0:1.0:0.0:0.0	.	229;197;263	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	Y	263	.	ENSP00000362092:D263Y	D	-	1	0	RRAGC	39089986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GAT		0.338	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		12	39	1	0	9.05144e-12	0.001855	1.27963e-11	12	39				
RLF	6018	broad.mit.edu	37	1	40702175	40702175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:40702175G>T	ENST00000372771.4	+	8	1828	c.1801G>T	c.(1801-1803)Gtg>Ttg	p.V601L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	601					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTCCTCATGTGATGGAGCA	0.363																																							uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1801-1803)GTG>TTG		rearranged L-myc fusion							48.0	52.0	51.0					1																	40702175		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702175G>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1801G>T	1.37:g.40702175G>T	ENSP00000361857:p.Val601Leu					RLF_uc001cfd.3_Missense_Mutation_p.V292L	p.V601L	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1832	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	601			C2H2-type 1.		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1801G>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428781	0.25726	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.68903	-0.36	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.267643	0.40222	N	0.001145	T	0.65004	0.2650	L	0.35723	1.085	0.39573	D	0.969312	B;P	0.39094	0.389;0.659	B;B	0.43478	0.421;0.305	T	0.58250	-0.7669	10	0.20519	T	0.43	-9.5369	20.8794	0.99867	0.0:0.0:1.0:0.0	.	294;601	F5H2M5;Q13129	.;RLF_HUMAN	L	601;294	ENSP00000361857:V601L	ENSP00000361857:V601L	V	+	1	0	RLF	40474762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.527000	0.45615	2.941000	0.99782	0.655000	0.94253	GTG		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		16	31	1	0	6.72482e-11	0.003163	9.22664e-11	16	31				
PTPRF	5792	broad.mit.edu	37	1	44071284	44071284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:44071284G>T	ENST00000359947.4	+	19	3814	c.3474G>T	c.(3472-3474)gaG>gaT	p.E1158D	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E506D|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1149D|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1158D|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1149D	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1158					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAACTGGAGCTGGACGAGG	0.627																																							uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3472-3474)GAG>GAT		protein tyrosine phosphatase, receptor type, F							120.0	97.0	105.0					1																	44071284		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071284G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3474G>T	1.37:g.44071284G>T	ENSP00000353030:p.Glu1158Asp					PTPRF_uc001cjs.2_Missense_Mutation_p.E1149D|PTPRF_uc001cju.2_Missense_Mutation_p.E536D|PTPRF_uc009vwt.2_Missense_Mutation_p.E718D|PTPRF_uc001cjv.2_Missense_Mutation_p.E618D|PTPRF_uc001cjw.2_Missense_Mutation_p.E384D	p.E1158D	NM_002840	NP_002831	P10586	PTPRF_HUMAN			19	3814	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1158			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3474G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.926|6.926|6.926	0.540510|0.540510|0.540510	0.13250|0.13250|0.13250	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	.|T;T;T;T;T;T|.	.|0.55588|.	.|0.51;0.53;0.51;0.53;2.46;4.12|.	5.18|5.18|5.18	2.1|2.1|2.1	0.27182|0.27182|0.27182	.|.|.	.|0.000000|.	.|0.34750|.	.|N|.	.|0.003714|.	T|T|T	0.20210|0.20210|0.20210	0.0486|0.0486|0.0486	N|N|N	0.02916|0.02916|0.02916	-0.46|-0.46|-0.46	0.46954|0.46954|0.46954	D|D|D	0.999263|0.999263|0.999263	.|B;B;B;B;B|.	.|0.13145|.	.|0.0;0.0;0.001;0.0;0.007|.	.|B;B;B;B;B|.	.|0.08055|.	.|0.003;0.001;0.002;0.003;0.003|.	T|T|T	0.03453|0.03453|0.03453	-1.1035|-1.1035|-1.1035	5|10|5	.|0.15952|.	.|T|.	.|0.53|.	.|.|.	5.7707|5.7707|5.7707	0.18251|0.18251|0.18251	0.2219:0.0:0.6408:0.1373|0.2219:0.0:0.6408:0.1373|0.2219:0.0:0.6408:0.1373	.|.|.	.|803;506;724;1149;1158|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	S|D|I	531;572|1158;1149;1158;1149;506;219|804	.|ENSP00000353030:E1158D;ENSP00000398822:E1149D;ENSP00000361491:E1158D;ENSP00000361490:E1149D;ENSP00000387885:E506D;ENSP00000361484:E219D|.	.|ENSP00000353030:E1158D|.	A|E|S	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43843871|43843871|43843871	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.582000|0.582000|0.582000	0.36321|0.36321|0.36321	1.227000|1.227000|1.227000	0.32576|0.32576|0.32576	0.711000|0.711000|0.711000	0.32018|0.32018|0.32018	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|GAG|AGC		0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	21	1	0	1.58986e-06	0.008291	1.8947e-06	8	21				
KDM4A	9682	broad.mit.edu	37	1	44128655	44128655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:44128655C>A	ENST00000372396.3	+	5	654	c.520C>A	c.(520-522)Cca>Aca	p.P174T	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	174	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGAACACCCCATACCTGTA	0.493																																							uc001cjx.2		NA																	0				skin(1)	1						c.(520-522)CCA>ACA		jumonji domain containing 2A							225.0	195.0	205.0					1																	44128655		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44128655C>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.520C>A	1.37:g.44128655C>A	ENSP00000361473:p.Pro174Thr					KDM4A_uc010oki.1_Missense_Mutation_p.P174T	p.P174T	NM_014663	NP_055478	O75164	KDM4A_HUMAN			5	686	+			174			JmjC.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.520C>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210421	0.95069	.	.	ENSG00000066135	ENST00000372396	T	0.71934	-0.61	5.88	5.88	0.94601	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89751	0.3940	10	0.72032	D	0.01	-1.3622	20.2366	0.98359	0.0:1.0:0.0:0.0	.	174;174	B4DT38;O75164	.;KDM4A_HUMAN	T	174	ENSP00000361473:P174T	ENSP00000361473:P174T	P	+	1	0	KDM4A	43901242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.758000	0.85224	2.792000	0.96026	0.557000	0.71058	CCA		0.493	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		32	80	1	0	2.80507e-11	0.002445	3.88934e-11	32	80				
ELAVL4	1996	broad.mit.edu	37	1	50666841	50666841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:50666841C>A	ENST00000371823.4	+	7	1358	c.1134C>A	c.(1132-1134)caC>caA	p.H378Q	ELAVL4_ENST00000371819.1_Missense_Mutation_p.H369Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.H367Q|ELAVL4_ENST00000371824.1_Missense_Mutation_p.H364Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.H383Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.H381Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.H364Q	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	378					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ACAAAGCCCACAAGTCCTGAA	0.448																																							uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1132-1134)CAC>CAA		ELAV-like 4 isoform 1							23.0	23.0	23.0					1																	50666841		2200	4293	6493	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666841C>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1134C>A	1.37:g.50666841C>A	ENSP00000360888:p.His378Gln					ELAVL4_uc001cry.3_Missense_Mutation_p.H367Q|ELAVL4_uc001crz.3_Missense_Mutation_p.H364Q|ELAVL4_uc001csa.3_Missense_Mutation_p.H381Q|ELAVL4_uc001csc.3_Missense_Mutation_p.H364Q|ELAVL4_uc010omz.1_Missense_Mutation_p.H369Q	p.H378Q	NM_021952	NP_068771	P26378	ELAV4_HUMAN			7	1402	+			378					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.1134C>A	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485025	0.44147	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09255	3.02;3.02;3.0;3.02;3.04;3.04;3.02	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.02960	-0.455	0.58432	D	0.999999	D;B;P;D;P;P	0.57899	0.968;0.22;0.935;0.981;0.593;0.643	P;B;P;P;B;B	0.62885	0.758;0.064;0.694;0.908;0.381;0.271	T	0.44559	-0.9320	10	0.48119	T	0.1	.	12.3846	0.55325	0.0:0.8656:0.0:0.1344	.	369;364;378;381;364;367	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	Q	367;364;381;364;378;383;369	ENSP00000399939:H367Q;ENSP00000360892:H364Q;ENSP00000349594:H381Q;ENSP00000360889:H364Q;ENSP00000360888:H378Q;ENSP00000360886:H383Q;ENSP00000360884:H369Q	ENSP00000349594:H381Q	H	+	3	2	ELAVL4	50439428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.644000	0.61397	1.588000	0.49971	0.655000	0.94253	CAC		0.448	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		7	20	1	0	0.00307968	0.00308	0.003275	7	20				
ZYG11B	79699	broad.mit.edu	37	1	53279551	53279551	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:53279551G>T	ENST00000294353.6	+	12	2058	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	ZYG11B_ENST00000443756.2_Missense_Mutation_p.W568L|ZYG11B_ENST00000545132.1_3'UTR	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	638										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTTGAAATGGCCAACTCCA	0.353																																							uc001cuj.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1912-1914)TGG>TTG		zyg-11 homolog B							142.0	130.0	134.0					1																	53279551		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53279551G>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1913G>T	1.37:g.53279551G>T	ENSP00000294353:p.Trp638Leu					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.W559L|ZYG11B_uc009vzh.2_Missense_Mutation_p.W60L	p.W638L	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			12	2108	+			638					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1913G>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898065	0.91962	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.38887	1.11;1.11	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.74674	-0.3586	10	0.87932	D	0	.	18.7429	0.91780	0.0:0.0:1.0:0.0	.	568;638	B4DK95;Q9C0D3	.;ZY11B_HUMAN	L	568;638	ENSP00000400522:W568L;ENSP00000294353:W638L	ENSP00000294353:W638L	W	+	2	0	ZYG11B	53052139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.383000	0.97214	2.422000	0.82143	0.650000	0.86243	TGG		0.353	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		20	34	1	0	1.50039e-11	0.001882	2.10463e-11	20	34				
ACOT11	26027	broad.mit.edu	37	1	55067020	55067020	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55067020G>T	ENST00000371316.3	+	9	1045	c.963G>T	c.(961-963)atG>atT	p.M321I	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.M321I	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	321	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTGCCTTTATGACCTTTGTGG	0.657																																					Ovarian(148;1440 1861 22015 32453 51933)	Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NA																	0				central_nervous_system(1)	1						c.(961-963)ATG>ATT		thioesterase, adipose associated isoform BFIT1							95.0	94.0	94.0					1																	55067020		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55067020G>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.963G>T	1.37:g.55067020G>T	ENSP00000360366:p.Met321Ile					ACOT11_uc001cxj.1_Missense_Mutation_p.M199I|ACOT11_uc001cxl.1_Missense_Mutation_p.M321I	p.M321I	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			9	1045	+			321			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.963G>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502870	0.64298	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.28069	1.63;1.63	4.48	4.48	0.54585	.	0.037602	0.85682	D	0.000000	T	0.32194	0.0821	L	0.39326	1.205	0.80722	D	1	B;P	0.41524	0.129;0.753	B;B	0.43052	0.068;0.406	T	0.12319	-1.0552	10	0.49607	T	0.09	-23.4454	16.9496	0.86240	0.0:0.0:1.0:0.0	.	321;321	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	I	321	ENSP00000340260:M321I;ENSP00000360366:M321I	ENSP00000340260:M321I	M	+	3	0	ACOT11	54839608	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.448000	0.97600	2.312000	0.78011	0.561000	0.74099	ATG		0.657	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		29	55	1	0	2.2171e-23	0.009535	3.95187e-23	29	55				
MROH7	374977	broad.mit.edu	37	1	55136487	55136487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55136487C>T	ENST00000421030.2	+	7	1769	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	MROH7_ENST00000545244.1_Missense_Mutation_p.T63I|MROH7_ENST00000395690.2_Missense_Mutation_p.T495I|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.T495I|MROH7_ENST00000339553.5_Missense_Mutation_p.T495I|MROH7_ENST00000409996.1_Missense_Mutation_p.T63I|MROH7_ENST00000454855.2_Missense_Mutation_p.T13I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	495						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACCCAGCCCACCCTGGGCATG	0.622																																							uc010ooe.1		NA																	0					0						c.(1483-1485)ACC>ATC		hypothetical protein LOC374977							29.0	33.0	31.0					1																	55136487		2058	4191	6249	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55136487C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1484C>T	1.37:g.55136487C>T	ENSP00000396622:p.Thr495Ile					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.T63I|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.T13I|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.T495I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.T495I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			7	1808	+			495					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1484C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904309	0.17760	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47	5.08	-8.97	0.00758	.	1.534980	0.04231	N	0.335224	T	0.01870	0.0059	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.45323	-0.9269	10	0.21540	T	0.41	-0.7128	4.6628	0.12650	0.1152:0.4794:0.2541:0.1513	.	495;495;63	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	I	495;63;520;495;63;13;495	ENSP00000396622:T495I;ENSP00000442333:T63I;ENSP00000343211:T495I;ENSP00000387048:T63I;ENSP00000401130:T13I;ENSP00000379044:T495I	ENSP00000343211:T495I	T	+	2	0	HEATR8	54909075	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.868000	0.01644	-1.098000	0.03038	0.650000	0.86243	ACC		0.622	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		10	23	0	0	0	0.008291	0	10	23				
USP24	23358	broad.mit.edu	37	1	55563650	55563650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55563650C>A	ENST00000294383.6	-	47	5560	c.5561G>T	c.(5560-5562)aGt>aTt	p.S1854I	USP24_ENST00000407756.1_Missense_Mutation_p.S1694I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1854	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACGCATTACTTCCTTCTAG	0.348																																							uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(5080-5082)AGT>ATT		ubiquitin specific protease 24							121.0	114.0	116.0					1																	55563650		1829	4081	5910	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563650C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5561G>T	1.37:g.55563650C>A	ENSP00000294383:p.Ser1854Ile						p.S1694I	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			44	5081	-			1854					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5081G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818765	0.90873	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.06371	3.31;3.31	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.33245	0.995	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	T	0.00143	-1.1996	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1694	B7WPF4	.	I	1854;1694	ENSP00000294383:S1854I;ENSP00000385700:S1694I	ENSP00000294383:S1854I	S	-	2	0	USP24	55336238	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	AGT		0.348	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			28	38	1	0	4.66903e-05	0.002096	5.28887e-05	28	38				
C1orf168	199920	broad.mit.edu	37	1	57254653	57254653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:57254653C>A	ENST00000343433.6	-	3	992	c.912G>T	c.(910-912)caG>caT	p.Q304H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	304										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACCTTCCCCCTGAGTCTTGG	0.597																																							uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(910-912)CAG>CAT		hypothetical protein LOC199920							143.0	127.0	132.0					1																	57254653		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57254653C>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.912G>T	1.37:g.57254653C>A	ENSP00000345972:p.Gln304His					C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.Q304H	p.Q304H	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			3	1318	-			304					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.912G>T	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465626	0.26335	.	.	ENSG00000187889	ENST00000343433	T	0.34072	1.38	5.4	-1.93	0.07594	.	1.581800	0.03413	N	0.205074	T	0.15565	0.0375	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.11717	-1.0576	10	0.36615	T	0.2	8.6701	2.9813	0.05954	0.1035:0.3528:0.31:0.2337	.	304;304	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	H	304	ENSP00000345972:Q304H	ENSP00000345972:Q304H	Q	-	3	2	C1orf168	57027241	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-0.638000	0.05452	-0.479000	0.06813	-0.254000	0.11334	CAG		0.597	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		27	72	1	0	6.07407e-21	0.007291	1.04896e-20	27	72				
C8B	732	broad.mit.edu	37	1	57406634	57406634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:57406634C>A	ENST00000371237.4	-	9	1352	c.1286G>T	c.(1285-1287)gGa>gTa	p.G429V	C8B_ENST00000543257.1_Missense_Mutation_p.G377V|C8B_ENST00000535057.1_Missense_Mutation_p.G367V	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	429	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTGCCCCTCCTCGTACCAG	0.587																																							uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1285-1287)GGA>GTA		complement component 8, beta polypeptide							164.0	117.0	133.0					1																	57406634		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57406634C>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1286G>T	1.37:g.57406634C>A	ENSP00000360281:p.Gly429Val					C8B_uc010oon.1_Missense_Mutation_p.G367V|C8B_uc010ooo.1_Missense_Mutation_p.G377V	p.G429V	NM_000066	NP_000057	P07358	CO8B_HUMAN			9	1353	-			429			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1286G>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889412	0.91889	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.97209	-4.29;-4.29;-4.29	5.36	5.36	0.76844	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	M	0.85710	2.77	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	0.99564	1.0969	10	0.87932	D	0	-24.2904	19.4436	0.94836	0.0:1.0:0.0:0.0	.	377;367;429	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	V	429;377;367	ENSP00000360281:G429V;ENSP00000442548:G377V;ENSP00000440113:G367V	ENSP00000360281:G429V	G	-	2	0	C8B	57179222	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.083000	0.76859	2.652000	0.90054	0.655000	0.94253	GGA		0.587	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			19	21	1	0	7.07596e-05	0.006122	7.95287e-05	19	21				
KANK4	163782	broad.mit.edu	37	1	62732417	62732417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:62732417G>T	ENST00000371153.4	-	6	2684	c.2306C>A	c.(2305-2307)aCa>aAa	p.T769K	KANK4_ENST00000354381.3_Missense_Mutation_p.T141K|KANK4_ENST00000371150.1_Missense_Mutation_p.T125K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	769						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGCTGGTCTGTGGTGGTCCC	0.423																																							uc001dah.3		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(2305-2307)ACA>AAA		ankyrin repeat domain 38							110.0	114.0	113.0					1																	62732417		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62732417G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2306C>A	1.37:g.62732417G>T	ENSP00000360195:p.Thr769Lys					KANK4_uc001dai.3_Missense_Mutation_p.T141K|KANK4_uc001dag.3_Missense_Mutation_p.T125K	p.T769K	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			6	2683	-			769					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2306C>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	2.893	-0.229145	0.06022	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.49139	0.84;0.79;0.8	4.51	1.48	0.22813	.	0.200073	0.25030	N	0.033693	T	0.23210	0.0561	N	0.16166	0.38	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.12156	0.003;0.007	T	0.09596	-1.0667	10	0.22109	T	0.4	-0.987	4.0209	0.09665	0.0798:0.1344:0.4192:0.3665	.	141;769	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	K	769;141;125	ENSP00000360195:T769K;ENSP00000346352:T141K;ENSP00000360192:T125K	ENSP00000346352:T141K	T	-	2	0	KANK4	62505005	0.121000	0.22262	0.012000	0.15200	0.298000	0.27526	0.639000	0.24690	0.557000	0.29117	0.591000	0.81541	ACA		0.423	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		26	50	1	0	2.61193e-14	0.009535	3.96464e-14	26	50				
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:63001286C>A	ENST00000340370.5	-	28	3413	c.3396G>T	c.(3394-3396)acG>acT	p.T1132T	DOCK7_ENST00000251157.5_Silent_p.T1163T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1163					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398																																							uc001daq.2		NA																	0				ovary(2)	2						c.(3487-3489)ACG>ACT		dedicator of cytokinesis 7							91.0	82.0	85.0					1																	63001286		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63001286C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3396G>T	1.37:g.63001286C>A						DOCK7_uc001dan.2_Silent_p.T1024T|DOCK7_uc001dao.2_Silent_p.T1024T|DOCK7_uc001dap.2_Silent_p.T1132T|DOCK7_uc001dam.2_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	p.T1163T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			29	3523	-			1163					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.3489G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.691994	0.15039	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.05	-3.41	0.04839	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7086	0.45969	0.0:0.1343:0.583:0.2826	.	.	.	.	X	335	.	.	E	-	1	0	DOCK7	62773874	0.216000	0.23585	0.886000	0.34754	0.926000	0.56050	-0.517000	0.06275	-0.848000	0.04163	-1.246000	0.01523	GAA		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	22	1	0	0.00498961	0.00499	0.00525567	13	22				
SGIP1	84251	broad.mit.edu	37	1	67199493	67199493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:67199493C>G	ENST00000371037.4	+	21	2038	c.1961C>G	c.(1960-1962)aCt>aGt	p.T654S	SGIP1_ENST00000435165.2_Missense_Mutation_p.T159S|SGIP1_ENST00000371036.3_Missense_Mutation_p.T456S|SGIP1_ENST00000371035.3_Missense_Mutation_p.T444S|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000237247.6_Missense_Mutation_p.T685S|SGIP1_ENST00000371039.1_Missense_Mutation_p.T457S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	654	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATTTGATGACTCACCTAAAG	0.358																																							uc001dcr.2		NA																	0				ovary(3)	3						c.(1960-1962)ACT>AGT		SH3-domain GRB2-like (endophilin) interacting							136.0	132.0	133.0					1																	67199493		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67199493C>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1961C>G	1.37:g.67199493C>G	ENSP00000360076:p.Thr654Ser					SGIP1_uc010opd.1_Missense_Mutation_p.T254S|SGIP1_uc001dcs.2_Missense_Mutation_p.T254S|SGIP1_uc001dct.2_Missense_Mutation_p.T256S|SGIP1_uc009wat.2_Missense_Mutation_p.T448S|SGIP1_uc001dcu.2_Missense_Mutation_p.T159S	p.T654S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			21	2178	+			654					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1961C>G	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196661	0.22037	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	6.0	4.15	0.48705	Muniscin C-terminal mu homology domain (1);	0.158592	0.56097	D	0.000028	T	0.07143	0.0181	N	0.05124	-0.11	0.46654	D	0.99914	B;B;B;B;B	0.30326	0.001;0.012;0.002;0.276;0.0	B;B;B;B;B	0.28849	0.002;0.012;0.002;0.095;0.003	T	0.17531	-1.0366	10	0.02654	T	1	-4.4949	12.5429	0.56182	0.0:0.8664:0.0:0.1336	.	684;159;256;444;654	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	S	685;457;444;684;657;456;654;159	ENSP00000237247:T685S;ENSP00000360078:T457S;ENSP00000360074:T444S;ENSP00000360075:T456S;ENSP00000360076:T654S;ENSP00000395525:T159S	ENSP00000237247:T685S	T	+	2	0	SGIP1	66972081	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.500000	0.35682	0.884000	0.36064	0.650000	0.86243	ACT		0.358	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		29	51	0	0	0	0.005443	0	29	51				
SLC44A5	204962	broad.mit.edu	37	1	75740677	75740677	+	Missense_Mutation	SNP	C	C	A	rs143283722		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:75740677C>A	ENST00000370855.5	-	6	339	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G76C|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	76					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAAAAGTGGCCCTGGCTGTCT	0.478																																							uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(226-228)GGC>TGC		solute carrier family 44, member 5 isoform A							56.0	51.0	53.0					1																	75740677		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75740677C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.226G>T	1.37:g.75740677C>A	ENSP00000359892:p.Gly76Cys					SLC44A5_uc001dgt.2_Missense_Mutation_p.G76C|SLC44A5_uc001dgs.2_Missense_Mutation_p.G34C|SLC44A5_uc001dgr.2_Missense_Mutation_p.G34C|SLC44A5_uc010oqz.1_Missense_Mutation_p.G115C|SLC44A5_uc010ora.1_Missense_Mutation_p.G70C|SLC44A5_uc010orb.1_Intron	p.G76C	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			6	370	-			76			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.226G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687203	0.88639	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.29142	1.58;1.58	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	M	0.93016	3.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	T	0.71464	-0.4585	10	0.87932	D	0	-13.4205	19.7947	0.96474	0.0:1.0:0.0:0.0	.	70;115;76;76;115	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	C	76;115;76;69	ENSP00000359896:G76C;ENSP00000359892:G76C	ENSP00000359892:G76C	G	-	1	0	SLC44A5	75513265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.914000	0.75764	2.776000	0.95493	0.650000	0.86243	GGC		0.478	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		10	6	1	0	4.68919e-08	0.008291	5.93141e-08	10	6				
AK5	26289	broad.mit.edu	37	1	77876672	77876672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:77876672G>C	ENST00000354567.2	+	7	1161	c.898G>C	c.(898-900)Gcc>Ccc	p.A300P	AK5_ENST00000344720.5_Missense_Mutation_p.A274P	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	300	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCAGTTTGATGCCGACCGCGA	0.418																																							uc001dhn.2		NA																	0				skin(1)	1						c.(898-900)GCC>CCC		adenylate kinase 5 isoform 1							145.0	123.0	130.0					1																	77876672		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77876672G>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.898G>C	1.37:g.77876672G>C	ENSP00000346577:p.Ala300Pro					AK5_uc001dho.2_Missense_Mutation_p.A274P	p.A300P	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			7	1155	+			300					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.898G>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367051	0.82463	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.75154	-0.91;-0.9	5.23	5.23	0.72850	.	0.062573	0.64402	D	0.000006	T	0.53158	0.1779	L	0.32530	0.975	0.80722	D	1	P	0.42409	0.779	B	0.32149	0.141	T	0.66060	-0.6017	10	0.87932	D	0	-12.7624	18.0995	0.89501	0.0:0.0:1.0:0.0	.	300	Q9Y6K8	KAD5_HUMAN	P	300;274	ENSP00000346577:A300P;ENSP00000341430:A274P	ENSP00000341430:A274P	A	+	1	0	AK5	77649260	1.000000	0.71417	0.979000	0.43373	0.562000	0.35680	7.840000	0.86819	2.890000	0.99128	0.655000	0.94253	GCC		0.418	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		3	32	0	0	0	0.009096	0	3	32				
GBP6	163351	broad.mit.edu	37	1	89834176	89834176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:89834176G>T	ENST00000370456.4	+	2	159	c.66G>T	c.(64-66)ttG>ttT	p.L22F	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	22	GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGCAGCTATTGGTGAACCAGC	0.478																																							uc001dnf.2		NA																	0				ovary(2)	2						c.(64-66)TTG>TTT		guanylate binding protein family, member 6							139.0	131.0	134.0					1																	89834176		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89834176G>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.66G>T	1.37:g.89834176G>T	ENSP00000359485:p.Leu22Phe					GBP6_uc010ost.1_Intron	p.L22F	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	2	340	+		Lung NSC(277;0.0908)	22					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.66G>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460332	0.26248	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.61510	0.1	4.46	1.14	0.20703	Guanylate-binding protein, N-terminal (1);	1.820210	0.02872	N	0.131752	T	0.31327	0.0793	L	0.41415	1.275	0.27243	N	0.959083	B	0.18968	0.032	B	0.29077	0.098	T	0.31336	-0.9947	10	0.59425	D	0.04	3.9418	6.6496	0.22955	0.4209:0.0:0.5791:0.0	.	22	Q6ZN66	GBP6_HUMAN	F	22	ENSP00000359485:L22F	ENSP00000359485:L22F	L	+	3	2	GBP6	89606764	0.000000	0.05858	0.321000	0.25320	0.018000	0.09664	-0.759000	0.04761	0.216000	0.20781	0.491000	0.48974	TTG		0.478	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		19	52	1	0	8.10497e-08	0.010504	1.01718e-07	19	52				
ZNF644	84146	broad.mit.edu	37	1	91403085	91403085	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:91403085C>A	ENST00000370440.1	-	4	3862	c.3645G>T	c.(3643-3645)ccG>ccT	p.P1215P	ZNF644_ENST00000337393.5_Silent_p.P1215P|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GATACATCAACGGACTATCCT	0.373																																							uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(3643-3645)CCG>CCT		zinc finger protein 644 isoform 1							148.0	141.0	144.0					1																	91403085		2203	4300	6503	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403085C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3645G>T	1.37:g.91403085C>A						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	p.P1215P	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3787	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1215					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.3645G>T	CCDS731.1																																																																																				0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		22	52	1	0	2.39556e-15	0.00278	3.71441e-15	22	52				
GLMN	11146	broad.mit.edu	37	1	92730115	92730115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:92730115A>T	ENST00000370360.3	-	14	1376	c.1295T>A	c.(1294-1296)tTa>tAa	p.L432*	GLMN_ENST00000534881.1_Nonsense_Mutation_p.L418*	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	432					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTACCTTTAATGACATGTC	0.289									Multiple Glomus Tumors (of the Skin), Familial																														uc001dor.2		NA																	0				skin(1)	1						c.(1294-1296)TTA>TAA		glomulin							76.0	78.0	77.0					1																	92730115		2201	4291	6492	SO:0001587	stop_gained	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92730115A>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1295T>A	1.37:g.92730115A>T	ENSP00000359385:p.Leu432*					GLMN_uc009wdg.2_Intron|GLMN_uc001dos.2_Nonsense_Mutation_p.L418*	p.L432*	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	14	1410	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	432					Q5VVC3|Q9BVE8	Nonsense_Mutation	SNP	ENST00000370360.3	37	c.1295T>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	a	36	5.880936	0.97062	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	.	.	.	5.62	4.48	0.54585	.	0.122887	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1186	10.4794	0.44684	0.8556:0.0:0.0:0.1444	.	.	.	.	X	432;418	.	ENSP00000359385:L432X	L	-	2	0	GLMN	92502703	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.933000	0.56545	1.031000	0.39867	0.477000	0.44152	TTA		0.289	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		6	25	0	0	0	0.001168	0	6	25				
PTBP2	58155	broad.mit.edu	37	1	97243152	97243152	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:97243152A>G	ENST00000426398.2	+	6	487	c.444A>G	c.(442-444)gcA>gcG	p.A148A	PTBP2_ENST00000370198.1_Silent_p.A148A|PTBP2_ENST00000394184.3_Silent_p.A159A|PTBP2_ENST00000541987.1_Silent_p.A117A|PTBP2_ENST00000370197.1_Silent_p.A148A|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.A148A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	148					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGCTCAGGCAGTTCTTCAAG	0.438																																							uc001drq.2		NA																	0					0						c.(442-444)GCA>GCG		polypyrimidine tract binding protein 2							76.0	73.0	74.0					1																	97243152		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97243152A>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.444A>G	1.37:g.97243152A>G						PTBP2_uc001drn.2_Silent_p.A148A|PTBP2_uc001dro.2_Silent_p.A148A|PTBP2_uc010otz.1_Silent_p.A159A|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.A96A|PTBP2_uc001drr.2_Silent_p.A148A|PTBP2_uc010oua.1_Silent_p.A156A|PTBP2_uc001dru.2_RNA	p.A148A	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	6	690	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	148					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.444A>G	CCDS754.1																																																																																				0.438	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			16	21	0	0	0	0.006122	0	16	21				
PLPPR5	163404	broad.mit.edu	37	1	99470069	99470069	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:99470069G>T	ENST00000263177.4	-	1	380	c.159C>A	c.(157-159)ccC>ccA	p.P53P	LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Silent_p.P53P|RP5-896L10.1_ENST00000425113.1_RNA	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		53						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GGCCCGGGTAGGGTTTGCGGT	0.687																																							uc001dsb.2		NA																	0					0						c.(157-159)CCC>CCA		phosphatidic acid phosphatase type 2d isoform 1							55.0	47.0	50.0					1																	99470069		2203	4300	6503	SO:0001819	synonymous_variant	163404					integral to membrane	hydrolase activity	g.chr1:99470069G>T																												ENST00000263177.4:c.159C>A	1.37:g.99470069G>T						uc001dsd.1_RNA|LPPR5_uc001dsc.2_Silent_p.P53P	p.P53P	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			1	381	-			53					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.159C>A	CCDS30778.1																																																																																				0.687	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			7	23	1	0	5.18039e-06	0.00308	6.06341e-06	7	23				
PLPPR4	9890	broad.mit.edu	37	1	99772228	99772228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:99772228C>A	ENST00000370185.3	+	7	2451	c.1954C>A	c.(1954-1956)Cct>Act	p.P652T	LPPR4_ENST00000370184.1_Missense_Mutation_p.P494T|LPPR4_ENST00000457765.1_Missense_Mutation_p.P594T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		652					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTGGAAAGCCCCTGAAAAGGG	0.532																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1954-1956)CCT>ACT		plasticity related gene 1							72.0	71.0	71.0					1																	99772228		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772228C>A																												ENST00000370185.3:c.1954C>A	1.37:g.99772228C>A	ENSP00000359204:p.Pro652Thr					LPPR4_uc010oue.1_Missense_Mutation_p.P594T	p.P652T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2060	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	652					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1954C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893459	0.33442	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.21361	2.59;2.58;2.01	5.9	5.9	0.94986	.	0.198916	0.44097	D	0.000493	T	0.13072	0.0317	N	0.11427	0.14	0.58432	D	0.999998	D;B	0.54964	0.969;0.048	P;B	0.52598	0.703;0.008	T	0.12811	-1.0533	9	.	.	.	-23.88	20.2822	0.98520	0.0:1.0:0.0:0.0	.	594;652	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	T	652;594;494	ENSP00000359204:P652T;ENSP00000394913:P594T;ENSP00000359203:P494T	.	P	+	1	0	RP4-788L13.1	99544816	1.000000	0.71417	0.953000	0.39169	0.581000	0.36288	7.191000	0.77763	2.806000	0.96561	0.655000	0.94253	CCT		0.532	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	16	1	0	5.18039e-06	0.00308	6.06341e-06	7	16				
FRRS1	391059	broad.mit.edu	37	1	100181217	100181217	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:100181217C>A	ENST00000414213.1	-	12	1849	c.1248G>T	c.(1246-1248)atG>atT	p.M416I	FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I|FRRS1_ENST00000492943.1_5'Flank			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	416	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGAACATGAGCATCCGATGCA	0.418																																							uc001dsh.1		NA																	0				skin(1)	1						c.(1246-1248)ATG>ATT		stromal cell derived factor receptor 2 homolog							101.0	96.0	98.0					1																	100181217		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181217C>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1248G>T	1.37:g.100181217C>A	ENSP00000393884:p.Met416Ile						p.M416I	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	12	1850	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	416			Cytochrome b561.|Helical; Name=3; (Potential).		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1248G>T		.	.	.	.	.	.	.	.	.	.	C	3.334	-0.136105	0.06711	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	1.21	0.21127	.	0.753768	0.13385	N	0.391844	T	0.06554	0.0168	N	0.02960	-0.455	0.29913	N	0.823401	B	0.09022	0.002	B	0.12837	0.008	T	0.39292	-0.9621	9	0.21014	T	0.42	-1.0111	10.0593	0.42263	0.4324:0.4555:0.1121:0.0	.	416	Q6ZNA5-2	.	I	416	.	ENSP00000287474:M416I	M	-	3	0	FRRS1	99953805	0.096000	0.21769	0.755000	0.31263	0.248000	0.25809	0.208000	0.17415	0.761000	0.33130	0.460000	0.39030	ATG		0.418	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		14	34	1	0	0.000151284	0.001855	0.000168068	14	34				
S1PR1	1901	broad.mit.edu	37	1	101705131	101705131	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:101705131C>A	ENST00000305352.6	+	2	966	c.591C>A	c.(589-591)ctC>ctA	p.L197L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	197					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTGCCGCTCTACCACAAGC	0.567											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dud.2		NA																	0				ovary(2)|lung(1)	3						c.(589-591)CTC>CTA		sphingosine-1-phosphate receptor 1							139.0	129.0	132.0					1																	101705131		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705131C>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.591C>A	1.37:g.101705131C>A			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.L197L	p.L197L	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1105	+			197			Extracellular (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.591C>A	CCDS777.1																																																																																				0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		11	50	1	0	6.31663e-08	0.003163	7.96204e-08	11	50				
MAGI3	260425	broad.mit.edu	37	1	114226374	114226374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:114226374C>G	ENST00000307546.9	+	21	4259	c.4184C>G	c.(4183-4185)tCt>tGt	p.S1395C	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1420					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACAAGTTCTAGTAACGAT	0.343																																							uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(4183-4185)TCT>TGT		membrane-associated guanylate kinase-related  3							44.0	40.0	41.0					1																	114226374		1568	3581	5149	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226374C>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.4184C>G	1.37:g.114226374C>G	ENSP00000304604:p.Ser1395Cys					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.S1395C	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4365	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1420					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.4184C>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862543	0.17178	.	.	ENSG00000081026	ENST00000307546	T	0.55930	0.49	5.01	2.95	0.34219	.	0.659654	0.13707	N	0.368370	T	0.15696	0.0378	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.14023	0.01	T	0.21075	-1.0256	10	0.42905	T	0.14	-15.0182	9.69	0.40123	0.0:0.686:0.2222:0.0918	.	1395	Q5TCQ9-4	.	C	1395	ENSP00000304604:S1395C	ENSP00000304604:S1395C	S	+	2	0	MAGI3	114027897	0.000000	0.05858	0.024000	0.17045	0.134000	0.20937	0.754000	0.26390	1.253000	0.44018	-0.355000	0.07637	TCT		0.343	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		5	5	0	0	0	0.000602	0	5	5				
ATP1A1	476	broad.mit.edu	37	1	116935553	116935553	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:116935553G>A	ENST00000295598.5	+	11	1662	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	ATP1A1_ENST00000369496.4_Missense_Mutation_p.M439I|ATP1A1_ENST00000537345.1_Missense_Mutation_p.M470I	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	470					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TGAAGGAGATGAGAGAAAGAT	0.522																																							uc001ege.2		NA																	0				ovary(1)	1						c.(1408-1410)ATG>ATA		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						183.0	154.0	164.0					1																	116935553		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116935553G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1410G>A	1.37:g.116935553G>A	ENSP00000295598:p.Met470Ile					ATP1A1_uc010owv.1_Missense_Mutation_p.M439I|ATP1A1_uc010oww.1_Missense_Mutation_p.M470I|ATP1A1_uc010owx.1_Missense_Mutation_p.M439I|C1orf203_uc009whb.2_RNA	p.M470I	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	11	1749	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	470			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.1410G>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823319	0.50739	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.96168	-3.93;-3.93;-3.93	5.28	5.28	0.74379	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.01515	-0.825	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.16289	0.009;0.015	T	0.76862	-0.2802	10	0.09843	T	0.71	.	19.0976	0.93258	0.0:0.0:1.0:0.0	.	470;470	F5H3A1;P05023	.;AT1A1_HUMAN	I	470;470;469;439	ENSP00000295598:M470I;ENSP00000445306:M470I;ENSP00000358508:M439I	ENSP00000295598:M470I	M	+	3	0	ATP1A1	116737076	1.000000	0.71417	0.992000	0.48379	0.879000	0.50718	6.574000	0.74014	2.745000	0.94114	0.655000	0.94253	ATG		0.522	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		12	73	0	0	0	0.001368	0	12	73				
ZNF697	90874	broad.mit.edu	37	1	120165431	120165431	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:120165431C>T	ENST00000421812.2	-	3	1654	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GTGGATGCGGCGGTGGCGGAT	0.632																																							uc001ehy.1		NA																	0				ovary(1)	1						c.(1534-1536)CGC>CAC		zinc finger protein 697							16.0	21.0	19.0					1																	120165431		2186	4289	6475	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165431C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1535G>A	1.37:g.120165431C>T	ENSP00000396857:p.Arg512His						p.R512H	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1649	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	512			C2H2-type 10.		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1535G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489970	0.26686	.	.	ENSG00000143067	ENST00000421812	T	0.18502	2.21	4.99	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002276	T	0.04452	0.0122	L	0.35288	1.05	0.27403	N	0.954791	P	0.45986	0.87	B	0.36719	0.231	T	0.18304	-1.0341	10	0.62326	D	0.03	-35.4739	7.6966	0.28598	0.0:0.7447:0.1654:0.0899	.	512	Q5TEC3	ZN697_HUMAN	H	512	ENSP00000396857:R512H	ENSP00000396857:R512H	R	-	2	0	ZNF697	119966954	0.004000	0.15560	1.000000	0.80357	0.014000	0.08584	-0.270000	0.08584	1.440000	0.47531	-0.136000	0.14681	CGC		0.632	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		8	9	0	0	0	0.004482	0	8	9				
ITGA10	8515	broad.mit.edu	37	1	145531018	145531018	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145531018G>T	ENST00000369304.3	+	7	925	c.750G>T	c.(748-750)atG>atT	p.M250I	ITGA10_ENST00000538811.1_Missense_Mutation_p.M119I|ITGA10_ENST00000539363.1_Missense_Mutation_p.M107I|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	250	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAATAATGGTGGCCTGGT	0.562																																							uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(748-750)ATG>ATT		integrin, alpha 10 precursor							101.0	85.0	90.0					1																	145531018		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145531018G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.750G>T	1.37:g.145531018G>T	ENSP00000358310:p.Met250Ile					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.M119I|ITGA10_uc009wiw.2_Missense_Mutation_p.M107I|ITGA10_uc010oyw.1_Missense_Mutation_p.M195I	p.M250I	NM_003637	NP_003628	O75578	ITA10_HUMAN			7	826	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		250			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.750G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562960	0.27915	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.83075	-1.68;-1.68;-1.68	4.78	3.8	0.43715	von Willebrand factor, type A (3);	0.553106	0.19045	N	0.124191	T	0.60483	0.2272	L	0.29908	0.895	0.24583	N	0.993869	B;B;B;B	0.22909	0.017;0.017;0.077;0.019	B;B;B;B	0.25759	0.038;0.023;0.035;0.063	T	0.57171	-0.7857	10	0.54805	T	0.06	.	10.1103	0.42559	0.0:0.2042:0.7958:0.0	.	216;119;107;250	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	I	250;216;107;119	ENSP00000358310:M250I;ENSP00000439894:M107I;ENSP00000440011:M119I	ENSP00000358310:M250I	M	+	3	0	ITGA10	144242375	0.222000	0.23652	0.982000	0.44146	0.456000	0.32438	0.413000	0.21148	2.198000	0.70561	0.563000	0.77884	ATG		0.562	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		22	24	1	0	2.32416e-17	0.002299	3.75721e-17	22	24				
ITGA10	8515	broad.mit.edu	37	1	145532463	145532463	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145532463G>T	ENST00000369304.3	+	9	1091	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	ITGA10_ENST00000538811.1_Missense_Mutation_p.G175C|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163C|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTAGGTCCTTGGTCACTACCT	0.458																																							uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(916-918)GGT>TGT		integrin, alpha 10 precursor							112.0	107.0	109.0					1																	145532463		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532463G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.916G>T	1.37:g.145532463G>T	ENSP00000358310:p.Gly306Cys					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.G175C|ITGA10_uc009wiw.2_Missense_Mutation_p.G163C|ITGA10_uc010oyw.1_Missense_Mutation_p.G251C	p.G306C	NM_003637	NP_003628	O75578	ITA10_HUMAN			9	992	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		306			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.916G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819995	0.71028	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.56611	0.45;0.45;0.45	5.12	4.14	0.48551	von Willebrand factor, type A (3);	0.133937	0.49305	D	0.000143	T	0.71702	0.3371	M	0.89840	3.065	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.77233	-0.2663	10	0.87932	D	0	.	13.1129	0.59283	0.0:0.1623:0.8377:0.0	.	272;175;163;306	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	C	306;272;163;175	ENSP00000358310:G306C;ENSP00000439894:G163C;ENSP00000440011:G175C	ENSP00000358310:G306C	G	+	1	0	ITGA10	144243820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.248000	0.78268	2.573000	0.86826	0.561000	0.74099	GGT		0.458	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		16	49	1	0	3.32936e-07	0.006122	4.06514e-07	16	49				
NUDT17	200035	broad.mit.edu	37	1	145586916	145586916	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145586916C>T	ENST00000334513.5	-	7	783	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	258							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGTGCAGGACCAGAGGTCGG	0.532																																							uc001eoe.2		NA																	0					0						c.(772-774)GTC>ATC		nudix (nucleoside diphosphate linked moiety							150.0	135.0	140.0					1																	145586916		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145586916C>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.772G>A	1.37:g.145586916C>T	ENSP00000334437:p.Val258Ile					NBPF10_uc001emp.3_Intron	p.V258I	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN			7	780	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		258						Missense_Mutation	SNP	ENST00000334513.5	37	c.772G>A	CCDS30830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.861896|2.861896	0.51482|0.51482	.|.	.|.	ENSG00000186364|ENSG00000186364	ENST00000334513|ENST00000444015	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.913963|.	0.09267|.	N|.	0.825701|.	T|.	0.30916|.	0.0780|.	L|L	0.38175|0.38175	1.15|1.15	0.29250|0.29250	N|N	0.872048|0.872048	B|.	0.23316|.	0.083|.	B|.	0.21917|.	0.037|.	T|.	0.14811|.	-1.0459|.	9|.	0.36615|.	T|.	0.2|.	-1.7556|-1.7556	13.4194|13.4194	0.60987|0.60987	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	258|.	P0C025|.	NUD17_HUMAN|.	I|X	258|141	.|.	ENSP00000334437:V258I|.	V|W	-|-	1|3	0|0	NUDT17|NUDT17	144298273|144298273	0.164000|0.164000	0.22935|0.22935	0.993000|0.993000	0.49108|0.49108	0.613000|0.613000	0.37349|0.37349	0.731000|0.731000	0.26058|0.26058	2.519000|2.519000	0.84933|0.84933	0.650000|0.650000	0.86243|0.86243	GTC|TGG		0.532	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		52	68	0	0	0	0.00361	0	52	68				
OTUD7B	56957	broad.mit.edu	37	1	149921592	149921592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:149921592C>G	ENST00000369135.4	-	9	1357	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	355	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCCTGATCATAGGCGAGC	0.517																																							uc001etn.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1063-1065)GAT>CAT		zinc finger protein Cezanne							83.0	84.0	84.0					1																	149921592		1986	4178	6164	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149921592C>G	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1063G>C	1.37:g.149921592C>G	ENSP00000358131:p.Asp355His						p.D355H	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		9	1419	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		355			Catalytic.|OTU.|TRAF-binding.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1063G>C	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425192	0.83667	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.33216	1.42;1.42	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17077	-1.0381	9	.	.	.	-27.4812	17.5711	0.87934	0.0:1.0:0.0:0.0	.	355	Q6GQQ9	OTU7B_HUMAN	H	355	ENSP00000358131:D355H;ENSP00000408231:D355H	.	D	-	1	0	OTUD7B	148188216	1.000000	0.71417	0.992000	0.48379	0.938000	0.57974	7.320000	0.79064	2.633000	0.89246	0.591000	0.81541	GAT		0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		17	56	0	0	0	0.008871	0	17	56				
C1orf54	79630	broad.mit.edu	37	1	150249030	150249030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150249030C>G	ENST00000369102.1	+	6	1060	c.290C>G	c.(289-291)aCa>aGa	p.T97R	C1orf54_ENST00000369098.3_Missense_Mutation_p.T97R|C1orf54_ENST00000369099.3_Missense_Mutation_p.T97R			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	97						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACCAGTAACAACGGAACCT	0.493																																							uc001eud.2		NA																	0					0						c.(289-291)ACA>AGA		hypothetical protein LOC79630 precursor							94.0	83.0	87.0					1																	150249030		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150249030C>G	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.290C>G	1.37:g.150249030C>G	ENSP00000358098:p.Thr97Arg					C1orf54_uc001euc.2_Missense_Mutation_p.T97R|C1orf54_uc001eue.2_Missense_Mutation_p.T97R|C1orf54_uc001euf.2_Missense_Mutation_p.T97R|C1orf54_uc001eug.2_Missense_Mutation_p.T97R	p.T97R	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	328	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		97					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.290C>G	CCDS948.1	.	.	.	.	.	.	.	.	.	.	C	7.761	0.705468	0.15172	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.1	0.125	0.14718	.	0.645262	0.13799	N	0.361956	T	0.18635	0.0447	L	0.28115	0.83	0.09310	N	1	D;D	0.55385	0.971;0.971	P;P	0.55391	0.628;0.775	T	0.04946	-1.0916	9	0.72032	D	0.01	-0.9465	6.2273	0.20716	0.0:0.558:0.0:0.442	.	97;97	Q5TB16;Q8WWF1	.;CA054_HUMAN	R	97	.	ENSP00000358094:T97R	T	+	2	0	C1orf54	148515654	0.041000	0.20044	0.001000	0.08648	0.136000	0.21042	1.069000	0.30641	0.155000	0.19261	-1.054000	0.02325	ACA		0.493	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579		23	44	0	0	0	0.00278	0	23	44				
ARNT	405	broad.mit.edu	37	1	150789613	150789613	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150789613T>C	ENST00000358595.5	-	17	1844	c.1644A>G	c.(1642-1644)ttA>ttG	p.L548L	ARNT_ENST00000354396.2_Silent_p.L548L|ARNT_ENST00000505755.1_Silent_p.L533L|ARNT_ENST00000515192.1_Silent_p.L534L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	548					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGGGCAAATAAACCATCTG	0.383			T	ETV6	AML																																		uc001evr.1		NA		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(1642-1644)TTA>TTG		aryl hydrocarbon receptor nuclear translocator							103.0	96.0	99.0					1																	150789613		2203	4300	6503	SO:0001819	synonymous_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150789613T>C	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1644A>G	1.37:g.150789613T>C						ARNT_uc010pck.1_Silent_p.L37L|ARNT_uc001evs.1_Silent_p.L533L|ARNT_uc009wmb.1_Silent_p.L534L|ARNT_uc009wmc.1_Silent_p.L548L|ARNT_uc009wmd.1_Silent_p.L533L	p.L548L	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		17	1787	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		548					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Silent	SNP	ENST00000358595.5	37	c.1644A>G	CCDS970.1																																																																																				0.383	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			14	42	0	0	0	0.004007	0	14	42				
ARNT	405	broad.mit.edu	37	1	150811989	150811989	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150811989G>A	ENST00000358595.5	-	6	614	c.414C>T	c.(412-414)caC>caT	p.H138H	ARNT_ENST00000354396.2_Silent_p.H138H|ARNT_ENST00000505755.1_Silent_p.H123H|ARNT_ENST00000515192.1_Silent_p.H129H	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	138	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGACTTCATGTGAGAAACTG	0.498			T	ETV6	AML																																		uc001evr.1		NA		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(412-414)CAC>CAT		aryl hydrocarbon receptor nuclear translocator							204.0	186.0	192.0					1																	150811989		2203	4300	6503	SO:0001819	synonymous_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150811989G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.414C>T	1.37:g.150811989G>A						ARNT_uc001evs.1_Silent_p.H123H|ARNT_uc009wmb.1_Silent_p.H129H|ARNT_uc009wmc.1_Silent_p.H138H|ARNT_uc009wmd.1_Silent_p.H123H|ARNT_uc009wme.1_Silent_p.H138H|ARNT_uc010pcl.1_Silent_p.H122H	p.H138H	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	557	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		138			Helix-loop-helix motif.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Silent	SNP	ENST00000358595.5	37	c.414C>T	CCDS970.1																																																																																				0.498	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			55	69	0	0	0	0.00361	0	55	69				
CELF3	11189	broad.mit.edu	37	1	151682231	151682231	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:151682231C>T	ENST00000290583.4	-	3	1058	c.265G>A	c.(265-267)Gag>Aag	p.E89K	CELF3_ENST00000290585.4_Missense_Mutation_p.E89K|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	89					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCTCGGCTCTCGCTGTCGGCT	0.622																																							uc001eys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(265-267)GAG>AAG		trinucleotide repeat containing 4							119.0	103.0	108.0					1																	151682231		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151682231C>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.265G>A	1.37:g.151682231C>T	ENSP00000290583:p.Glu89Lys					CELF3_uc010pdh.1_5'Flank|CELF3_uc001eyr.2_Missense_Mutation_p.E89K|CELF3_uc009wmy.2_Missense_Mutation_p.E89K|CELF3_uc009wmx.1_Missense_Mutation_p.E89K|CELF3_uc001eyt.2_Missense_Mutation_p.E13K|CELF3_uc010pdi.1_Missense_Mutation_p.E89K|C1orf230_uc001eyu.2_5'Flank	p.E89K	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			3	1059	-			89					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.265G>A	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.043868	0.75732	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833	T;T	0.72051	-0.62;1.46	4.35	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.48260	1.515	0.80722	D	1	P;P;B;B;B	0.46578	0.803;0.88;0.117;0.204;0.154	B;B;B;B;B	0.38056	0.085;0.264;0.039;0.011;0.008	T	0.65421	-0.6172	10	0.87932	D	0	-13.679	14.7441	0.69477	0.0:1.0:0.0:0.0	.	89;89;89;89;89	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	K	89	ENSP00000290585:E89K;ENSP00000290583:E89K	ENSP00000290583:E89K	E	-	1	0	CELF3	149948855	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.278000	0.78587	2.416000	0.81992	0.462000	0.41574	GAG		0.622	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		11	60	0	0	0	0.008871	0	11	60				
RPTN	126638	broad.mit.edu	37	1	152127334	152127334	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152127334G>T	ENST00000316073.3	-	3	2305	c.2241C>A	c.(2239-2241)acC>acA	p.T747T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	747	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CATGTTCATGGGTTTGTCTGT	0.522																																							uc001ezs.1		NA																	0					0						c.(2239-2241)ACC>ACA		repetin							730.0	576.0	623.0					1																	152127334		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127334G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2241C>A	1.37:g.152127334G>T							p.T747T	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	2306	-			747			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.2241C>A	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		144	218	1	0	1.18608e-55	0.00361	2.28043e-55	144	218				
HRNR	388697	broad.mit.edu	37	1	152191918	152191918	+	Missense_Mutation	SNP	G	G	T	rs146453724	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152191918G>T	ENST00000368801.2	-	3	2262	c.2187C>A	c.(2185-2187)caC>caA	p.H729Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2185-2187)CAC>CAA		hornerin							205.0	202.0	203.0					1																	152191918		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191918G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2187C>A	1.37:g.152191918G>T	ENSP00000357791:p.His729Gln						p.H729Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2263	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		729			7.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2187C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	0.592	-0.832625	0.02713	.	.	ENSG00000197915	ENST00000368801	T	0.04809	3.55	2.29	-4.58	0.03410	.	.	.	.	.	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.47923	-0.9079	9	0.10377	T	0.69	.	5.5563	0.17119	0.2618:0.1612:0.5771:0.0	.	729	Q86YZ3	HORN_HUMAN	Q	729	ENSP00000357791:H729Q	ENSP00000357791:H729Q	H	-	3	2	HRNR	150458542	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.756000	0.00789	-1.660000	0.01486	-2.590000	0.00165	CAC		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		95	161	1	0	3.07327e-39	0.00361	5.85424e-39	95	161				
FLG	2312	broad.mit.edu	37	1	152280800	152280800	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152280800T>A	ENST00000368799.1	-	3	6597	c.6562A>T	c.(6562-6564)Agt>Tgt	p.S2188C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6562-6564)AGT>TGT		filaggrin							469.0	398.0	422.0					1																	152280800		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280800T>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6562A>T	1.37:g.152280800T>A	ENSP00000357789:p.Ser2188Cys						p.S2188C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6598	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2188			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6562A>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	5.820	0.335594	0.11013	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	2.62	-0.852	0.10713	.	.	.	.	.	T	0.01695	0.0054	M	0.73962	2.25	0.09310	N	1	D	0.57899	0.981	B	0.37198	0.243	T	0.41360	-0.9513	9	0.56958	D	0.05	.	1.7917	0.03053	0.2907:0.4033:0.0:0.306	.	2188	P20930	FILA_HUMAN	C	2188	ENSP00000357789:S2188C	ENSP00000357789:S2188C	S	-	1	0	FLG	150547424	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.177000	0.09796	0.161000	0.19458	0.397000	0.26171	AGT		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	450	0	0	0	0.00361	0	63	450				
FLG	2312	broad.mit.edu	37	1	152283963	152283963	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152283963C>T	ENST00000368799.1	-	3	3434	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1133	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCCTGGTCCGCCCATGGG	0.592									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3397-3399)CGG>CGA		filaggrin							158.0	194.0	182.0					1																	152283963		2203	4297	6500	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283963C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3399G>A	1.37:g.152283963C>T						uc001ezv.2_5'Flank	p.R1133R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3435	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1133			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3399G>A	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		105	236	0	0	0	0.00361	0	105	236				
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152287816C>G	ENST00000368799.1	-	2	152	c.117G>C	c.(115-117)aaG>aaC	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)	p.K39N(1)	ovary(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(115-117)AAG>AAC		filaggrin							174.0	178.0	177.0					1																	152287816		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287816C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.117G>C	1.37:g.152287816C>G	ENSP00000357789:p.Lys39Asn					uc001ezv.2_Intron	p.K39N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		39			EF-hand 1.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.117G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747510	0.30955	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.2	-10.4	0.00318	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	P	0.47191	0.891	P	0.48677	0.586	T	0.10636	-1.0621	9	0.31617	T	0.26	0.2843	5.8155	0.18490	0.0953:0.1969:0.0949:0.6129	.	39	P20930	FILA_HUMAN	N	39	ENSP00000357789:K39N	ENSP00000357789:K39N	K	-	3	2	FLG	150554440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.545000	0.00933	-1.947000	0.01034	-1.120000	0.02017	AAG		0.328	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		28	144	0	0	0	0.003755	0	28	144				
FLG2	388698	broad.mit.edu	37	1	152327631	152327631	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152327631G>A	ENST00000388718.5	-	3	2703	c.2631C>T	c.(2629-2631)agC>agT	p.S877S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	877	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGACCTGAGCTTGACCTGT	0.502																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2629-2631)AGC>AGT		filaggrin family member 2							346.0	299.0	315.0					1																	152327631		2198	4262	6460	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327631G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2631C>T	1.37:g.152327631G>A						uc001ezv.2_Intron	p.S877S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2704	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		877			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2631C>T	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		183	273	0	0	0	0.00361	0	183	273				
KPRP	448834	broad.mit.edu	37	1	152733784	152733784	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152733784G>A	ENST00000606109.1	+	1	1748	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	KPRP_ENST00000368773.1_Missense_Mutation_p.A574T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	574						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)			GAAAGGGGAAGCAAAGAGTGC	0.502																																							uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1720-1722)GCA>ACA		keratinocyte proline-rich protein							51.0	51.0	51.0					1																	152733784		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733784G>A	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.1720G>A	1.37:g.152733784G>A	ENSP00000475216:p.Ala574Thr						p.A574T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1778	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		574						Missense_Mutation	SNP	ENST00000606109.1	37	c.1720G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538951	0.27475	.	.	ENSG00000203786	ENST00000368773	T	0.14266	2.52	4.48	-1.04	0.10068	.	1.377990	0.04890	N	0.449373	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.41662	-0.9496	10	0.09843	T	0.71	2.936	4.4131	0.11443	0.4047:0.1615:0.4338:0.0	.	574	Q5T749	KPRP_HUMAN	T	574	ENSP00000357762:A574T	ENSP00000357762:A574T	A	+	1	0	KPRP	151000408	0.062000	0.20869	0.000000	0.03702	0.019000	0.09904	0.135000	0.15952	-0.280000	0.09154	-0.802000	0.03209	GCA		0.502	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		8	34	0	0	0	0.00308	0	8	34				
LCE1A	353131	broad.mit.edu	37	1	152799984	152799984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152799984C>A	ENST00000335123.2	+	1	36	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	12	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGCCAGCCCCCTcccaagt	0.622																																							uc010pdw.1		NA																	0				ovary(1)|skin(1)	2						c.(34-36)CCC>CCA		late cornified envelope 1A							50.0	59.0	56.0					1																	152799984		2203	4298	6501	SO:0001819	synonymous_variant	353131				keratinization			g.chr1:152799984C>A		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.36C>A	1.37:g.152799984C>A							p.P12P	NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	36	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		12			Cys-rich.			Silent	SNP	ENST00000335123.2	37	c.36C>A	CCDS1028.1																																																																																				0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		21	53	1	0	1.87028e-06	0.001882	2.22704e-06	21	53				
ILF2	3608	broad.mit.edu	37	1	153635230	153635230	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:153635230G>C	ENST00000361891.4	-	13	1088	c.963C>G	c.(961-963)ctC>ctG	p.L321L	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	321	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCATGTGAGAGGATTCGGA	0.468																																							uc001fcr.2		NA																	0					0						c.(961-963)CTC>CTG		interleukin enhancer binding factor 2							116.0	112.0	113.0					1																	153635230		2203	4300	6503	SO:0001819	synonymous_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635230G>C	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.963C>G	1.37:g.153635230G>C						ILF2_uc010pdy.1_Silent_p.L283L|ILF2_uc009wok.2_Silent_p.L299L	p.L321L	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		13	1044	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		321			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	c.963C>G	CCDS1050.1																																																																																				0.468	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		25	95	0	0	0	0.004656	0	25	95				
DCST1	149095	broad.mit.edu	37	1	155006533	155006533	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:155006533G>A	ENST00000295542.1	+	2	117	c.21G>A	c.(19-21)caG>caA	p.Q7Q	DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000423025.2_Silent_p.Q7Q|DCST1_ENST00000392480.1_Silent_p.Q7Q|DCST1_ENST00000368419.2_Silent_p.Q7Q|DCST2_ENST00000295536.5_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	7						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACATCATCAGAATGGCACAA	0.502																																							uc001fgn.1		NA																	0				ovary(1)|skin(1)	2						c.(19-21)CAG>CAA		DC-STAMP domain containing 1 isoform 1							155.0	124.0	135.0					1																	155006533		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155006533G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.21G>A	1.37:g.155006533G>A						DCST2_uc001fgm.2_5'Flank|DCST2_uc009wpb.2_5'Flank|DCST1_uc010per.1_5'UTR|DCST1_uc010pes.1_Silent_p.Q7Q	p.Q7Q	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		2	117	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		7			Cytoplasmic (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.21G>A	CCDS1083.1																																																																																				0.502	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		9	51	0	0	0	0.008291	0	9	51				
ADAM15	8751	broad.mit.edu	37	1	155030771	155030771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:155030771C>G	ENST00000356955.2	+	15	1872	c.1771C>G	c.(1771-1773)Ctg>Gtg	p.L591V	ADAM15_ENST00000271836.6_Missense_Mutation_p.L591V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L591V|ADAM15_ENST00000368413.1_Missense_Mutation_p.L297V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L601V|ADAM15_ENST00000368412.3_Missense_Mutation_p.L591V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L591V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.L297V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L575V|ADAM15_ENST00000359280.4_Missense_Mutation_p.L591V|ADAM15_ENST00000360674.4_Missense_Mutation_p.L591V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	591	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCCAGCCTCTGCTGGGCTC	0.597																																							uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1771-1773)CTG>GTG		a disintegrin and metalloproteinase domain 15							40.0	41.0	40.0					1																	155030771		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155030771C>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1771C>G	1.37:g.155030771C>G	ENSP00000349436:p.Leu591Val					ADAM15_uc001fgq.1_Missense_Mutation_p.L276V|ADAM15_uc010pet.1_Missense_Mutation_p.L575V|ADAM15_uc010peu.1_Missense_Mutation_p.L608V|ADAM15_uc001fgt.1_Missense_Mutation_p.L591V|ADAM15_uc010pev.1_Missense_Mutation_p.L601V|ADAM15_uc001fgs.1_Missense_Mutation_p.L591V|ADAM15_uc001fgu.1_Missense_Mutation_p.L591V|ADAM15_uc001fgw.1_Missense_Mutation_p.L591V|ADAM15_uc001fgv.1_Missense_Mutation_p.L591V|ADAM15_uc001fgx.1_Missense_Mutation_p.L591V|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR	p.L591V	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		15	1872	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		591			Extracellular (Potential).|Cys-rich.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1771C>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	3.143	-0.175861	0.06421	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.37	3.52	0.40303	ADAM, cysteine-rich (2);	0.000000	0.35235	N	0.003342	T	0.13970	0.0338	L	0.39245	1.2	0.40467	D	0.980301	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.998;0.997;1.0;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.955;0.999;0.957;0.999;0.999;0.999;0.967;0.999;0.999	T	0.22977	-1.0201	10	0.09338	T	0.73	.	4.6714	0.12691	0.1736:0.6507:0.0:0.1756	.	601;608;575;591;591;591;591;591;591;591;588	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	591;591;591;591;591;591;297;591;297;601	ENSP00000349436:L591V;ENSP00000403843:L591V;ENSP00000352226:L591V;ENSP00000353892:L591V;ENSP00000357397:L591V;ENSP00000348227:L591V;ENSP00000357395:L297V;ENSP00000271836:L591V;ENSP00000357398:L297V;ENSP00000432927:L601V	ENSP00000271836:L591V	L	+	1	2	ADAM15	153297395	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	2.709000	0.47160	0.855000	0.35359	0.650000	0.86243	CTG		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		5	48	0	0	0	0.001168	0	5	48				
OR10K1	391109	broad.mit.edu	37	1	158435542	158435542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158435542C>A	ENST00000289451.2	+	1	271	c.191C>A	c.(190-192)gCc>gAc	p.A64D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTCCTTGCCATCCTTTCT	0.478																																							uc010pij.1		NA																	0				ovary(1)	1						c.(190-192)GCC>GAC		olfactory receptor, family 10, subfamily K,							218.0	190.0	200.0					1																	158435542		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435542C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.191C>A	1.37:g.158435542C>A	ENSP00000289451:p.Ala64Asp						p.A64D	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	191	+	all_hematologic(112;0.0378)		64			Helical; Name=2; (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.191C>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	2.932	-0.220822	0.06061	.	.	ENSG00000173285	ENST00000289451	T	0.01099	5.34	4.6	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.370546	0.19468	N	0.113527	T	0.00580	0.0019	L	0.60957	1.885	0.09310	N	1	P	0.49253	0.921	B	0.40477	0.33	T	0.53201	-0.8472	10	0.28530	T	0.3	.	5.7902	0.18357	0.0:0.6773:0.2141:0.1086	.	64	Q8NGX5	O10K1_HUMAN	D	64	ENSP00000289451:A64D	ENSP00000289451:A64D	A	+	2	0	OR10K1	156702166	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.483000	0.06536	2.359000	0.80004	0.557000	0.71058	GCC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			22	84	1	0	7.33532e-06	0.003954	8.53715e-06	22	84				
OR10Z1	128368	broad.mit.edu	37	1	158576318	158576318	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158576318G>C	ENST00000361284.1	+	1	90	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTGCCTTGTTCCTCTCTC	0.502																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(88-90)TTG>TTC		olfactory receptor, family 10, subfamily Z,							193.0	185.0	187.0					1																	158576318		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576318G>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.90G>C	1.37:g.158576318G>C	ENSP00000354707:p.Leu30Phe						p.L30F	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	90	+	all_hematologic(112;0.0378)		30			Helical; Name=1; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.90G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667499	0.29604	.	.	ENSG00000198967	ENST00000361284	T	0.17213	2.29	5.14	-2.99	0.05497	.	0.338945	0.16930	N	0.193734	T	0.04452	0.0122	L	0.43152	1.355	0.21802	N	0.999531	B	0.21688	0.059	B	0.21708	0.036	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.8513	0.24016	0.5159:0.2472:0.2369:0.0	.	30	Q8NGY1	O10Z1_HUMAN	F	30	ENSP00000354707:L30F	ENSP00000354707:L30F	L	+	3	2	OR10Z1	156842942	0.000000	0.05858	0.134000	0.22075	0.929000	0.56500	-2.508000	0.00960	-0.374000	0.07967	0.655000	0.94253	TTG		0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		36	73	0	0	0	0.003755	0	36	73				
OR10Z1	128368	broad.mit.edu	37	1	158576491	158576491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158576491G>T	ENST00000361284.1	+	1	263	c.263G>T	c.(262-264)gGg>gTg	p.G88V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCTGGGGGGGACCAGGCT	0.552																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(262-264)GGG>GTG		olfactory receptor, family 10, subfamily Z,							183.0	191.0	189.0					1																	158576491		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576491G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.263G>T	1.37:g.158576491G>T	ENSP00000354707:p.Gly88Val						p.G88V	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	263	+	all_hematologic(112;0.0378)		88			Extracellular (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.263G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	0.566	-0.842996	0.02671	.	.	ENSG00000198967	ENST00000361284	T	0.03004	4.08	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000784	T	0.00936	0.0031	N	0.16656	0.425	0.20307	N	0.999918	B	0.12630	0.006	B	0.12837	0.008	T	0.50215	-0.8854	10	0.27785	T	0.31	.	7.9746	0.30147	0.1653:0.0:0.8347:0.0	.	88	Q8NGY1	O10Z1_HUMAN	V	88	ENSP00000354707:G88V	ENSP00000354707:G88V	G	+	2	0	OR10Z1	156843115	0.291000	0.24352	0.433000	0.26760	0.027000	0.11550	1.760000	0.38430	2.783000	0.95769	0.655000	0.94253	GGG		0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		56	113	1	0	2.76378e-25	0.00361	5.03204e-25	56	113				
SPTA1	6708	broad.mit.edu	37	1	158613134	158613134	+	Silent	SNP	G	G	T	rs368042757		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158613134G>T	ENST00000368147.4	-	31	4600	c.4420C>A	c.(4420-4422)Cgg>Agg	p.R1474R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1474					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGTTGGAGCCGCGTAGCAATC	0.438																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4420-4422)CGG>AGG		spectrin, alpha, erythrocytic 1							137.0	136.0	136.0					1																	158613134		1949	4148	6097	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158613134G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4420C>A	1.37:g.158613134G>T							p.R1474R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			31	4619	-	all_hematologic(112;0.0378)		1474			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4420C>A	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		10	29	1	0	2.17888e-05	0.006214	2.49757e-05	10	29				
SPTA1	6708	broad.mit.edu	37	1	158639227	158639227	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158639227T>C	ENST00000368147.4	-	14	1984	c.1804A>G	c.(1804-1806)Aaa>Gaa	p.K602E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	602					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAACTTTTTCTTCTTGTTG	0.418																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1804-1806)AAA>GAA		spectrin, alpha, erythrocytic 1							283.0	265.0	271.0					1																	158639227		1915	4131	6046	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639227T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1804A>G	1.37:g.158639227T>C	ENSP00000357129:p.Lys602Glu						p.K602E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			14	2003	-	all_hematologic(112;0.0378)		602			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1804A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459369	0.84317	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38401	1.14;1.14	4.72	4.72	0.59763	.	0.000000	0.34002	N	0.004345	T	0.24928	0.0605	L	0.50333	1.59	0.39766	D	0.97209	P	0.39831	0.69	P	0.44946	0.465	T	0.03453	-1.1035	10	0.21014	T	0.42	.	13.4841	0.61355	0.0:0.0:0.0:1.0	.	602	P02549	SPTA1_HUMAN	E	602	ENSP00000357130:K602E;ENSP00000357129:K602E	ENSP00000357129:K602E	K	-	1	0	SPTA1	156905851	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.060000	0.76692	2.117000	0.64856	0.533000	0.62120	AAA		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		32	218	0	0	0	0.003271	0	32	218				
OR10J3	441911	broad.mit.edu	37	1	159284388	159284388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159284388C>A	ENST00000332217.5	-	1	61	c.62G>T	c.(61-63)aGg>aTg	p.R21M		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGCTGCCGCCTGAAGCTGGA	0.448																																							uc010piu.1		NA																	0				ovary(2)	2						c.(61-63)AGG>ATG		olfactory receptor, family 10, subfamily J,							176.0	184.0	182.0					1																	159284388		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284388C>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.62G>T	1.37:g.159284388C>A	ENSP00000331789:p.Arg21Met						p.R21M	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	62	-	all_hematologic(112;0.0429)		21			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.62G>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447349	0.04572	.	.	ENSG00000196266	ENST00000332217	T	0.00580	6.43	5.13	2.07	0.26955	.	0.578052	0.12856	U	0.433501	T	0.00241	0.0007	N	0.14661	0.345	0.09310	N	1	P	0.51351	0.944	P	0.48873	0.593	T	0.48725	-0.9010	10	0.72032	D	0.01	.	4.7018	0.12830	0.0:0.5677:0.1579:0.2743	.	21	Q5JRS4	O10J3_HUMAN	M	21	ENSP00000331789:R21M	ENSP00000331789:R21M	R	-	2	0	OR10J3	157551012	0.000000	0.05858	0.876000	0.34364	0.013000	0.08279	0.099000	0.15210	0.256000	0.21614	-0.367000	0.07326	AGG		0.448	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			48	102	1	0	1.21353e-23	0.00361	2.17381e-23	48	102				
FCRL6	343413	broad.mit.edu	37	1	159778918	159778918	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159778918C>A	ENST00000368106.3	+	4	488	c.487C>A	c.(487-489)Cca>Aca	p.P163T	FCRL6_ENST00000321935.6_Missense_Mutation_p.P170T|FCRL6_ENST00000339348.5_Missense_Mutation_p.P163T|FCRL6_ENST00000392235.3_Intron	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	163	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCCCTCACCCAGAACTCTG	0.622																																							uc001fud.3		NA																	0				ovary(2)|skin(1)	3						c.(487-489)CCA>ACA		Fc receptor-like 6 precursor							56.0	60.0	59.0					1																	159778918		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159778918C>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.487C>A	1.37:g.159778918C>A	ENSP00000357086:p.Pro163Thr					FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.P170T|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.P163T	p.P163T	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN			4	529	+	all_hematologic(112;0.0597)		163			Ig-like C2-type 2.|Extracellular (Potential).		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.487C>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776921	0.16120	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	T;T;T	0.11712	2.75;2.75;2.75	4.64	1.58	0.23477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.797729	0.10273	N	0.694489	T	0.06280	0.0162	M	0.67953	2.075	0.09310	N	1	B;P;B	0.43578	0.005;0.811;0.16	B;P;B	0.45276	0.042;0.475;0.082	T	0.29427	-1.0012	10	0.72032	D	0.01	.	4.978	0.14151	0.0:0.6278:0.173:0.1991	.	163;163;170	Q6DN72-3;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	T	170;163;163	ENSP00000320625:P170T;ENSP00000340949:P163T;ENSP00000357086:P163T	ENSP00000320625:P170T	P	+	1	0	FCRL6	158045542	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	-0.556000	0.05992	0.027000	0.15297	0.585000	0.79938	CCA		0.622	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		7	47	1	0	1.76689e-08	0.006214	2.25874e-08	7	47				
CFAP45	25790	broad.mit.edu	37	1	159850393	159850393	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159850393T>A	ENST00000368099.4	-	8	1059	c.995A>T	c.(994-996)cAg>cTg	p.Q332L	CCDC19_ENST00000426543.2_Missense_Mutation_p.Q247L|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAGCTTCTCCTGAGCCAGCAG	0.463																																							uc001fui.2		NA																	0				ovary(1)	1						c.(994-996)CAG>CTG		nasopharyngeal epithelium specific protein 1							174.0	150.0	158.0					1																	159850393		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159850393T>A																												ENST00000368099.4:c.995A>T	1.37:g.159850393T>A	ENSP00000357079:p.Gln332Leu					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.Q247L|CCDC19_uc001ful.2_Missense_Mutation_p.Q247L|CCDC19_uc009wtc.1_Missense_Mutation_p.Q318L	p.Q332L	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	1013	-	all_hematologic(112;0.0597)		332			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.995A>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247228	0.59103	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10573	2.86;2.86	4.96	4.96	0.65561	.	0.169438	0.52532	D	0.000078	T	0.08313	0.0207	L	0.58810	1.83	0.53688	D	0.999974	B;B	0.32653	0.379;0.379	B;B	0.40825	0.341;0.341	T	0.10917	-1.0609	9	.	.	.	-18.1396	12.5741	0.56354	0.0:0.0:0.0:1.0	.	332;332	A8K884;Q9UL16	.;CCD19_HUMAN	L	332;247	ENSP00000357079:Q332L;ENSP00000403044:Q247L	.	Q	-	2	0	CCDC19	158117017	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.588000	0.46137	1.851000	0.53745	0.379000	0.24179	CAG		0.463	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			49	54	0	0	0	0.00361	0	49	54				
SLAMF1	6504	broad.mit.edu	37	1	160616732	160616732	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:160616732C>A	ENST00000302035.6	-	1	353	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	SLAMF1_ENST00000355199.3_Missense_Mutation_p.D2Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.D2Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.D2Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	2					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCTTGGGATCCATCAGCCAA	0.567																																							uc001fwl.3		NA																	0				ovary(1)|breast(1)	2						c.(4-6)GAT>TAT		signaling lymphocytic activation molecule family							54.0	50.0	51.0					1																	160616732		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160616732C>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.4G>T	1.37:g.160616732C>A	ENSP00000306190:p.Asp2Tyr					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.D2Y	p.D2Y	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	350	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		2					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.4G>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810902	0.50421	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	3.84	3.84	0.44239	Signaling lymphocytic activation molecule, N-terminal (2);	0.433117	0.22250	N	0.062578	T	0.61887	0.2383	L	0.52011	1.625	0.37546	D	0.918495	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65747	-0.6093	10	0.87932	D	0	-3.1864	11.5825	0.50900	0.0:1.0:0.0:0.0	.	2;2	B4E2E4;Q13291	.;SLAF1_HUMAN	Y	2	ENSP00000306190:D2Y;ENSP00000235739:D2Y;ENSP00000438406:D2Y;ENSP00000347333:D2Y	ENSP00000235739:D2Y	D	-	1	0	SLAMF1	158883356	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.970000	0.49240	2.440000	0.82611	0.563000	0.77884	GAT		0.567	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	16	1	0	0.00024832	0.009096	0.00027355	4	16				
CD244	51744	broad.mit.edu	37	1	160811650	160811650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:160811650C>A	ENST00000368033.3	-	2	185	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Missense_Mutation_p.V35L|CD244_ENST00000368034.4_Missense_Mutation_p.V35L|CD244_ENST00000322302.7_Missense_Mutation_p.V35L			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	35	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAAGAGGCACTCCCGAGATG	0.483																																							uc009wtq.2		NA																	0				ovary(1)	1						c.(103-105)GTG>TTG		CD244 natural killer cell receptor 2B4							115.0	89.0	98.0					1																	160811650		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811650C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.103G>T	1.37:g.160811650C>A	ENSP00000357012:p.Val35Leu					CD244_uc001fxa.2_Missense_Mutation_p.V35L|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.V35L|CD244_uc010pjt.1_RNA	p.V35L	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	281	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		35			Extracellular (Potential).|Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.103G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	3.823	-0.037378	0.07497	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.26	-8.51	0.00923	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);	2.831380	0.00974	N	0.003280	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.29640	-1.0005	10	0.42905	T	0.14	-0.4499	11.8569	0.52441	0.0:0.5595:0.2987:0.1418	.	35;35;35	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	L	35	ENSP00000357013:V35L;ENSP00000357012:V35L;ENSP00000313619:V35L;ENSP00000357011:V35L	ENSP00000313619:V35L	V	-	1	0	CD244	159078274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.627000	0.00410	-3.760000	0.00110	-2.580000	0.00168	GTG		0.483	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		21	26	1	0	1.55469e-16	0.00333	2.47174e-16	21	26				
ARHGAP30	257106	broad.mit.edu	37	1	161024251	161024251	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161024251G>A	ENST00000368013.3	-	5	761	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Silent_p.F147F	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	147	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCATGAGGAACTCCAGGG	0.602																																							uc001fxl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(439-441)TTC>TTT		Rho GTPase activating protein 30 isoform 1							77.0	68.0	71.0					1																	161024251		2202	4300	6502	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024251G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.441C>T	1.37:g.161024251G>A						ARHGAP30_uc001fxk.2_Silent_p.F147F|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	p.F147F	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		5	787	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		147			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.441C>T	CCDS30918.1																																																																																				0.602	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		3	17	0	0	0	0.004672	0	3	17				
ARHGAP30	257106	broad.mit.edu	37	1	161024438	161024438	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161024438G>A	ENST00000368013.3	-	4	723	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R135W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	135	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGAGTTCCCGAAGCACCTCT	0.527																																							uc001fxl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(403-405)CGG>TGG		Rho GTPase activating protein 30 isoform 1							158.0	159.0	159.0					1																	161024438		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024438G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.403C>T	1.37:g.161024438G>A	ENSP00000356992:p.Arg135Trp					ARHGAP30_uc001fxk.2_Missense_Mutation_p.R135W|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	p.R135W	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		4	749	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		135			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.403C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047172	0.75846	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.20200	2.09;2.09	5.86	2.69	0.31865	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.755500	0.12421	N	0.470385	T	0.25975	0.0633	M	0.69823	2.125	0.37452	D	0.91486	D;D	0.64830	0.988;0.994	P;P	0.58520	0.773;0.84	T	0.08493	-1.0719	10	0.87932	D	0	.	9.2908	0.37786	0.0:0.259:0.5002:0.2408	.	135;135	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	W	135	ENSP00000356995:R135W;ENSP00000356992:R135W	ENSP00000356992:R135W	R	-	1	2	ARHGAP30	159291062	0.001000	0.12720	0.992000	0.48379	0.970000	0.65996	0.124000	0.15728	0.789000	0.33779	0.644000	0.83932	CGG		0.527	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		20	68	0	0	0	0.008871	0	20	68				
ADAMTS4	9507	broad.mit.edu	37	1	161163073	161163073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161163073G>T	ENST00000367996.5	-	7	2269	c.1841C>A	c.(1840-1842)gCc>gAc	p.A614D	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	614	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTCCTGGGGGGCCACGCCTGT	0.647																																							uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1840-1842)GCC>GAC		ADAM metallopeptidase with thrombospondin type 1							58.0	55.0	56.0					1																	161163073		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163073G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1841C>A	1.37:g.161163073G>T	ENSP00000356975:p.Ala614Asp						p.A614D	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	2269	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		614			Cys-rich.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1841C>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244811	0.59103	.	.	ENSG00000158859	ENST00000367996	T	0.03663	3.85	4.81	3.88	0.44766	.	0.000000	0.64402	D	0.000015	T	0.01661	0.0053	N	0.11560	0.145	0.80722	D	1	P	0.46656	0.882	P	0.46585	0.521	T	0.62248	-0.6894	10	0.66056	D	0.02	.	14.0802	0.64917	0.0:0.1522:0.8478:0.0	.	614	O75173	ATS4_HUMAN	D	614	ENSP00000356975:A614D	ENSP00000356975:A614D	A	-	2	0	ADAMTS4	159429697	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	6.467000	0.73547	1.212000	0.43366	0.557000	0.71058	GCC		0.647	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		9	31	1	0	0.000274275	0.004482	0.000300993	9	31				
FCGR2B	2213	broad.mit.edu	37	1	161645088	161645088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161645088C>A	ENST00000358671.5	+	6	883	c.802C>A	c.(802-804)Ctc>Atc	p.L268I	FCGR2B_ENST00000367960.5_Missense_Mutation_p.L261I|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L261I|FCGR2B_ENST00000367962.4_Missense_Mutation_p.L268I|FCGR2B_ENST00000236937.9_Intron	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	268					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAGAGACCCTCCCTGAGAA	0.602			T	?	ALL																																		uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0					0						c.(802-804)CTC>ATC		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						22.0	20.0	21.0					1																	161645088		2201	4299	6500	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161645088C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.802C>A	1.37:g.161645088C>A	ENSP00000351497:p.Leu268Ile					FCGR2B_uc001gay.1_Missense_Mutation_p.L267I|FCGR2B_uc001gba.1_Intron|FCGR2B_uc001gbb.1_Intron|FCGR2B_uc009wun.1_Missense_Mutation_p.L261I	p.L268I	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	894	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		268			Cytoplasmic (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.802C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077829	0.55753	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000367961;ENST00000358671	T;T;T;T	0.32023	4.58;1.47;1.47;4.58	5.06	2.09	0.27110	.	6.135680	0.00901	U	0.002342	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	D;D	0.62365	0.974;0.991	P;P	0.47981	0.558;0.563	T	0.44847	-0.9301	10	0.20519	T	0.43	.	7.7216	0.28736	0.0:0.7206:0.0:0.2794	.	261;268	P31994-3;P31994	.;FCG2B_HUMAN	I	268;261;261;268	ENSP00000356939:L268I;ENSP00000356937:L261I;ENSP00000356938:L261I;ENSP00000351497:L268I	ENSP00000351497:L268I	L	+	1	0	FCGR2B	159911712	0.005000	0.15991	0.991000	0.47740	0.823000	0.46562	0.429000	0.21412	0.523000	0.28482	0.561000	0.74099	CTC		0.602	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		6	14	1	0	2.7689e-08	0.001984	3.53028e-08	6	14				
OLFML2B	25903	broad.mit.edu	37	1	161989783	161989783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161989783G>T	ENST00000294794.3	-	2	787	c.364C>A	c.(364-366)Cca>Aca	p.P122T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P122T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	122					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGGGCCGATGGGGGTGCTACA	0.597																																							uc001gbu.2		NA																	0				skin(1)	1						c.(364-366)CCA>ACA		olfactomedin-like 2B precursor							76.0	75.0	76.0					1																	161989783		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161989783G>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.364C>A	1.37:g.161989783G>T	ENSP00000294794:p.Pro122Thr					OLFML2B_uc010pkq.1_Missense_Mutation_p.P122T	p.P122T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		2	788	-	all_hematologic(112;0.156)		122					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.364C>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808937	0.50421	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.47177	0.85;0.85	4.64	3.73	0.42828	.	.	.	.	.	T	0.49423	0.1556	L	0.57536	1.79	0.44162	D	0.996968	D;D	0.69078	0.997;0.995	P;D	0.63957	0.902;0.92	T	0.57004	-0.7885	8	0.87932	D	0	.	10.832	0.46665	0.0926:0.0:0.9074:0.0	.	122;122	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	122	ENSP00000294794:P122T;ENSP00000356917:P122T	ENSP00000294794:P122T	P	-	1	0	OLFML2B	160256407	1.000000	0.71417	0.076000	0.20297	0.412000	0.31113	8.997000	0.93544	1.315000	0.45114	0.561000	0.74099	CCA		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		18	41	1	0	2.94398e-08	0.007413	3.74689e-08	18	41				
DUSP27	92235	broad.mit.edu	37	1	167097504	167097504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:167097504C>A	ENST00000361200.2	+	6	3302	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P1046T|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1046T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1046					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGCCGGACCCCAGAGTCCTC	0.577																																							uc001geb.1		NA																	0				ovary(3)	3						c.(3136-3138)CCA>ACA		dual specificity phosphatase 27							30.0	35.0	34.0					1																	167097504		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097504C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3136C>A	1.37:g.167097504C>A	ENSP00000354483:p.Pro1046Thr						p.P1046T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3136	+			1046					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3136C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166207	0.38217	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03413	3.94;3.94;3.94	5.25	5.25	0.73442	.	0.000000	0.50627	D	0.000120	T	0.08403	0.0209	M	0.63428	1.95	0.44345	D	0.997239	D	0.58268	0.982	P	0.58172	0.834	T	0.02173	-1.1201	10	0.87932	D	0	-16.421	17.027	0.86450	0.0:1.0:0.0:0.0	.	1046	Q5VZP5	DUS27_HUMAN	T	1046	ENSP00000354483:P1046T;ENSP00000271385:P1046T;ENSP00000404874:P1046T	ENSP00000271385:P1046T	P	+	1	0	DUSP27	165364128	0.998000	0.40836	0.781000	0.31783	0.150000	0.21749	3.373000	0.52394	2.422000	0.82143	0.643000	0.83706	CCA		0.577	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		13	26	1	0	1.5842e-08	0.001855	2.03602e-08	13	26				
F5	2153	broad.mit.edu	37	1	169492497	169492497	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169492497C>A	ENST00000367797.3	-	21	6187	c.5986G>T	c.(5986-5988)Gct>Tct	p.A1996S	F5_ENST00000367796.3_Missense_Mutation_p.A2001S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1996	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAACTGTAAGCTACATAGAAC	0.438																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5986-5988)GCT>TCT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						238.0	208.0	218.0					1																	169492497		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169492497C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5986G>T	1.37:g.169492497C>A	ENSP00000356771:p.Ala1996Ser						p.A1996S	NM_000130	NP_000121	P12259	FA5_HUMAN			21	6131	-	all_hematologic(923;0.208)		1996			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5986G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052381	0.55218	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98120	-4.73;-4.73	5.49	4.58	0.56647	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.173012	0.52532	D	0.000075	D	0.93592	0.7954	N	0.17631	0.505	0.26035	N	0.981688	P	0.36222	0.544	P	0.45071	0.468	D	0.93518	0.6859	9	0.51188	T	0.08	-19.1786	11.0702	0.47999	0.0:0.8583:0.0:0.1417	.	1996	P12259	FA5_HUMAN	S	1996;2001	ENSP00000356771:A1996S;ENSP00000356770:A2001S	ENSP00000356770:A2001S	A	-	1	0	F5	167759121	0.998000	0.40836	0.977000	0.42913	0.822000	0.46500	1.980000	0.40618	2.583000	0.87209	0.655000	0.94253	GCT		0.438	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		42	39	1	0	2.64894e-19	0.00361	4.45715e-19	42	39				
F5	2153	broad.mit.edu	37	1	169529962	169529962	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169529962T>A	ENST00000367797.3	-	4	617	c.416A>T	c.(415-417)gAc>gTc	p.D139V	F5_ENST00000367796.3_Missense_Mutation_p.D139V|F5_ENST00000546081.1_Missense_Mutation_p.D2V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CACAGCGTCGTCCATCTTCTC	0.522																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(415-417)GAC>GTC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						148.0	124.0	132.0					1																	169529962		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529962T>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.416A>T	1.37:g.169529962T>A	ENSP00000356771:p.Asp139Val					F5_uc010plr.1_RNA	p.D139V	NM_000130	NP_000121	P12259	FA5_HUMAN			4	561	-	all_hematologic(923;0.208)		139			F5/8 type A 1.|Plastocyanin-like 1.	Calcium (By similarity).	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.416A>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145544	0.77888	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99353	-5.77;-5.77;-5.77	5.39	5.39	0.77823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	M	0.74258	2.255	0.51767	D	0.999938	D	0.89917	1.0	D	0.97110	1.0	D	0.99482	1.0948	9	0.87932	D	0	-23.0424	15.4134	0.74945	0.0:0.0:0.0:1.0	.	139	P12259	FA5_HUMAN	V	139;139;2	ENSP00000356771:D139V;ENSP00000356770:D139V;ENSP00000439664:D2V	ENSP00000356770:D139V	D	-	2	0	F5	167796586	1.000000	0.71417	0.996000	0.52242	0.597000	0.36814	6.074000	0.71253	2.029000	0.59856	0.477000	0.44152	GAC		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		26	45	0	0	0	0.005443	0	26	45				
SELP	6403	broad.mit.edu	37	1	169582879	169582879	+	Silent	SNP	G	G	T	rs371113357		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169582879G>T	ENST00000263686.6	-	4	571	c.534C>A	c.(532-534)atC>atA	p.I178I	SELP_ENST00000458599.2_Silent_p.I178I|SELP_ENST00000367786.2_Silent_p.I178I|SELP_ENST00000367788.2_Silent_p.I178I|SELP_ENST00000367792.2_Silent_p.I178I|SELP_ENST00000367793.2_Silent_p.I178I|SELP_ENST00000367794.2_Silent_p.I178I|SELP_ENST00000367791.2_Silent_p.I178I	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	178	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGTAGTTCCCGATGGTCTCGA	0.473																																							uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(532-534)ATC>ATA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						134.0	116.0	122.0					1																	169582879		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582879G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.534C>A	1.37:g.169582879G>T						SELP_uc001ggh.2_Silent_p.I13I|SELP_uc009wvr.2_Silent_p.I178I	p.I178I	NM_003005	NP_002996	P16109	LYAM3_HUMAN			4	599	-	all_hematologic(923;0.208)		178			Extracellular (Potential).|EGF-like.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.534C>A	CCDS1282.1																																																																																				0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		19	44	1	0	2.37509e-13	0.010504	3.5127e-13	19	44				
C1orf112	55732	broad.mit.edu	37	1	169812836	169812836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169812836C>T	ENST00000286031.6	+	19	2570	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q624*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	624										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCTTATGTTCAACAGACATT	0.308																																							uc001ggp.2		NA																	0					0						c.(1870-1872)CAA>TAA		hypothetical protein LOC55732							139.0	134.0	135.0					1																	169812836		2201	4300	6501	SO:0001587	stop_gained	55732							g.chr1:169812836C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1870C>T	1.37:g.169812836C>T	ENSP00000286031:p.Gln624*					C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Nonsense_Mutation_p.Q624*|C1orf112_uc009wvt.2_Nonsense_Mutation_p.Q301*|C1orf112_uc009wvu.1_Nonsense_Mutation_p.Q500*|C1orf112_uc001ggr.2_Nonsense_Mutation_p.Q489*|C1orf112_uc010plv.1_Nonsense_Mutation_p.Q566*	p.Q624*	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			20	2180	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		624					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	c.1870C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.170520	0.99089	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.15	16.3966	0.83607	0.0:1.0:0.0:0.0	.	.	.	.	X	624	.	ENSP00000286031:Q624X	Q	+	1	0	C1orf112	168079460	1.000000	0.71417	0.738000	0.30950	0.146000	0.21551	4.544000	0.60691	2.713000	0.92767	0.655000	0.94253	CAA		0.308	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		6	42	0	0	0	0.00308	0	6	42				
SUCO	51430	broad.mit.edu	37	1	172539803	172539803	+	Splice_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:172539803A>T	ENST00000263688.3	+	9	1201	c.982A>T	c.(982-984)Agc>Tgc	p.S328C	SUCO_ENST00000608151.1_Splice_Site_p.S487C|SUCO_ENST00000367723.4_Splice_Site_p.S486C|SUCO_ENST00000610051.1_Splice_Site_p.S291C	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	328	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTTAAAATAGAGCACATCTGC	0.269																																						Colon(43;174 953 11768 38880 47057)	uc001giq.3		NA																	0				ovary(2)	2						c.(982-984)AGC>TGC		chromosome 1 open reading frame 9 protein							42.0	45.0	44.0					1																	172539803		2183	4262	6445	SO:0001630	splice_region_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172539803A>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.982-1A>T	1.37:g.172539803A>T						C1orf9_uc010pmm.1_Missense_Mutation_p.S328C|C1orf9_uc009wwd.2_Missense_Mutation_p.S291C|C1orf9_uc010pmn.1_Missense_Mutation_p.S291C|C1orf9_uc010pmo.1_RNA	p.S328C	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	9	1298	+		Breast(1374;0.212)	328			SUN.		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.982A>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468508	0.84533	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	T;T	0.47177	0.85;0.85	5.85	5.85	0.93711	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	T	0.55205	-0.8177	9	.	.	.	-6.1436	15.0595	0.71942	1.0:0.0:0.0:0.0	.	291;328;487;328	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	C	487;328	ENSP00000356696:S487C;ENSP00000263688:S328C	.	S	+	1	0	C1orf9	170806426	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.364000	0.79526	2.238000	0.73509	0.533000	0.62120	AGC		0.269	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	Missense_Mutation	16	30	0	0	0	0.00499	0	16	30				
SUCO	51430	broad.mit.edu	37	1	172579351	172579351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:172579351G>T	ENST00000263688.3	+	24	3936	c.3717G>T	c.(3715-3717)gaG>gaT	p.E1239D	SUCO_ENST00000608151.1_Missense_Mutation_p.E1391D|SUCO_ENST00000367723.4_Missense_Mutation_p.E1390D|SUCO_ENST00000610051.1_Missense_Mutation_p.E868D	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1239					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GAAACAAAGAGATCACCGTGG	0.368																																						Colon(43;174 953 11768 38880 47057)	uc001giq.3		NA																	0				ovary(2)	2						c.(3715-3717)GAG>GAT		chromosome 1 open reading frame 9 protein							70.0	73.0	72.0					1																	172579351		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172579351G>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3717G>T	1.37:g.172579351G>T	ENSP00000263688:p.Glu1239Asp					C1orf9_uc009wwd.2_Missense_Mutation_p.E1195D|C1orf9_uc010pmn.1_Missense_Mutation_p.E868D|C1orf9_uc010pmo.1_RNA	p.E1239D	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	24	4033	+		Breast(1374;0.212)	1239					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.3717G>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248671	0.22880	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	1.17	0.20885	.	0.097172	0.64402	N	0.000002	T	0.14098	0.0341	L	0.43152	1.355	0.40254	D	0.978108	P;B;B	0.43750	0.816;0.075;0.028	B;B;B	0.35813	0.211;0.025;0.015	T	0.04870	-1.0921	9	0.42905	T	0.14	-5.0601	1.4361	0.02344	0.3099:0.1344:0.4175:0.1381	.	868;1391;1239	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	D	1391;1239	.	ENSP00000263688:E1239D	E	+	3	2	C1orf9	170845974	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	1.105000	0.31086	0.029000	0.15352	-0.145000	0.13849	GAG		0.368	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		15	34	1	0	4.14922e-12	0.004007	5.89475e-12	15	34				
TNN	63923	broad.mit.edu	37	1	175046639	175046639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:175046639G>T	ENST00000239462.4	+	2	198	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	29					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCACTCTGGAGCCTCCCGG	0.597																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(85-87)GAG>TAG		tenascin N precursor							58.0	53.0	55.0					1																	175046639		2203	4299	6502	SO:0001587	stop_gained	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046639G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.85G>T	1.37:g.175046639G>T	ENSP00000239462:p.Glu29*					TNN_uc010pmx.1_Nonsense_Mutation_p.E29*	p.E29*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	198	+		Breast(1374;0.000962)	29					B9EGP3|Q5R360	Nonsense_Mutation	SNP	ENST00000239462.4	37	c.85G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690587	0.68271	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.51	4.6	0.57074	.	0.408692	0.26883	N	0.022018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.483	0.50337	0.0836:0.0:0.9164:0.0	.	.	.	.	X	29	.	ENSP00000239462:E29X	E	+	1	0	TNN	173313262	0.140000	0.22579	0.117000	0.21633	0.312000	0.27988	2.020000	0.41010	1.340000	0.45581	0.655000	0.94253	GAG		0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	19	1	0	9.95505e-16	0.002299	1.55696e-15	8	19				
LAMC2	3918	broad.mit.edu	37	1	183189969	183189969	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183189969A>G	ENST00000264144.4	+	5	578	c.513A>G	c.(511-513)tcA>tcG	p.S171S	LAMC2_ENST00000493293.1_Silent_p.S171S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	171	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGTGTCGATCAGGTTACTATA	0.448																																							uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(511-513)TCA>TCG		laminin, gamma 2 isoform a precursor							49.0	50.0	50.0					1																	183189969		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183189969A>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.513A>G	1.37:g.183189969A>G						LAMC2_uc001gpz.3_Silent_p.S171S|LAMC2_uc010poa.1_5'UTR	p.S171S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			5	827	+			171			Laminin EGF-like 3.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.513A>G	CCDS1352.1																																																																																				0.448	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		7	29	0	0	0	0.004482	0	7	29				
NMNAT2	23057	broad.mit.edu	37	1	183230436	183230436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183230436C>T	ENST00000287713.6	-	9	988	c.654G>A	c.(652-654)atG>atA	p.M218I	NMNAT2_ENST00000294868.4_Missense_Mutation_p.M213I	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	218					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CAATCACCTCCATCTAAAGAA	0.493																																							uc001gqc.1		NA																	0				skin(1)	1						c.(652-654)ATG>ATA		nicotinamide mononucleotide adenylyltransferase							103.0	96.0	98.0					1																	183230436		2203	4300	6503	SO:0001583	missense	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183230436C>T	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.654G>A	1.37:g.183230436C>T	ENSP00000287713:p.Met218Ile					NMNAT2_uc009wye.1_RNA|NMNAT2_uc001gqb.1_Missense_Mutation_p.M213I	p.M218I	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			9	989	-			218					O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	c.654G>A	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407964	0.25378	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.95690	-3.78;-3.78	5.4	5.4	0.78164	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	N	0.02213	-0.635	0.80722	D	1	B;B	0.33694	0.421;0.367	B;B	0.28139	0.086;0.076	D	0.86010	0.1500	10	0.02654	T	1	-10.3611	19.1728	0.93585	0.0:1.0:0.0:0.0	.	218;213	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	I	218;213	ENSP00000287713:M218I;ENSP00000294868:M213I	ENSP00000287713:M218I	M	-	3	0	NMNAT2	181497059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.510000	0.81708	2.526000	0.85167	0.655000	0.94253	ATG		0.493	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			23	19	0	0	0	0.00278	0	23	19				
NCF2	4688	broad.mit.edu	37	1	183546792	183546792	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183546792C>A	ENST00000367535.3	-	3	559	c.308G>T	c.(307-309)gGg>gTg	p.G103V	NCF2_ENST00000367536.1_Missense_Mutation_p.G103V|NCF2_ENST00000413720.1_Missense_Mutation_p.G103V|NCF2_ENST00000418089.1_Missense_Mutation_p.G103V	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	103					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CAGCTGGTTCCCTCGAAGCTG	0.488																																							uc001gqj.3		NA																	0				ovary(3)	3						c.(307-309)GGG>GTG		neutrophil cytosolic factor 2							111.0	109.0	110.0					1																	183546792		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546792C>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.308G>T	1.37:g.183546792C>A	ENSP00000356505:p.Gly103Val					NCF2_uc010pod.1_Missense_Mutation_p.G103V|NCF2_uc010poe.1_Missense_Mutation_p.G103V|NCF2_uc001gqk.3_Missense_Mutation_p.G103V	p.G103V	NM_000433	NP_000424	P19878	NCF2_HUMAN			3	583	-			103			TPR 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.308G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232288	0.79688	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.73897	-0.3;-0.79;-0.79;-0.3	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.193107	0.56097	D	0.000036	D	0.87861	0.6284	M	0.87547	2.89	0.54753	D	0.99998	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.74023	0.982;0.933;0.976	D	0.89527	0.3782	10	0.87932	D	0	-9.0808	16.6438	0.85155	0.0:1.0:0.0:0.0	.	103;103;103	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	V	103;131;103;103;103	ENSP00000356506:G103V;ENSP00000399294:G103V;ENSP00000407217:G103V;ENSP00000356505:G103V	ENSP00000356505:G103V	G	-	2	0	NCF2	181813415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.538000	0.67193	2.669000	0.90835	0.655000	0.94253	GGG		0.488	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		12	70	1	0	4.36969e-10	0.001855	5.83435e-10	12	70				
NCF2	4688	broad.mit.edu	37	1	183546814	183546814	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183546814C>T	ENST00000367535.3	-	3	537	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NCF2_ENST00000367536.1_Missense_Mutation_p.E96K|NCF2_ENST00000413720.1_Missense_Mutation_p.E96K|NCF2_ENST00000418089.1_Missense_Mutation_p.E96K	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	96			Missing (in CGD2). {ECO:0000269|PubMed:20167518}.		aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ATCAAGGCTTCTTTAAGGTCT	0.458																																							uc001gqj.3		NA																	0				ovary(3)	3						c.(286-288)GAA>AAA		neutrophil cytosolic factor 2							97.0	96.0	97.0					1																	183546814		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546814C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.286G>A	1.37:g.183546814C>T	ENSP00000356505:p.Glu96Lys					NCF2_uc010pod.1_Missense_Mutation_p.E96K|NCF2_uc010poe.1_Missense_Mutation_p.E96K|NCF2_uc001gqk.3_Missense_Mutation_p.E96K	p.E96K	NM_000433	NP_000424	P19878	NCF2_HUMAN			3	561	-			96		Missing (in CGD2).	TPR 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.286G>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053019	0.55218	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.396264	0.29624	N	0.011621	T	0.56587	0.1995	L	0.31526	0.94	0.32499	N	0.539187	D;P;B	0.63046	0.992;0.907;0.021	P;P;B	0.56343	0.796;0.686;0.038	T	0.63274	-0.6674	10	0.44086	T	0.13	-35.0923	16.6438	0.85155	0.0:1.0:0.0:0.0	.	96;96;96	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	K	96;124;96;96;96	ENSP00000356506:E96K;ENSP00000399294:E96K;ENSP00000407217:E96K;ENSP00000356505:E96K	ENSP00000356505:E96K	E	-	1	0	NCF2	181813437	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	2.684000	0.46951	2.669000	0.90835	0.655000	0.94253	GAA		0.458	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		11	60	0	0	0	0.000978	0	11	60				
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:184764460C>A	ENST00000367511.3	-	14	2631	c.2438G>T	c.(2437-2439)gGg>gTg	p.G813V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657																																							uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(2437-2439)GGG>GTG		niban protein isoform 2							53.0	57.0	56.0					1																	184764460		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764460C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2438G>T	1.37:g.184764460C>A	ENSP00000356481:p.Gly813Val					FAM129A_uc001grb.1_Intron	p.G813V	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2632	-			813			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2438G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793422	0.31685	.	.	ENSG00000135842	ENST00000367511	T	0.09911	2.93	5.12	-7.55	0.01327	.	4.104950	0.00166	N	0.000003	T	0.05914	0.0154	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.27706	-1.0066	10	0.33940	T	0.23	3.2611	3.244	0.06791	0.1057:0.164:0.42:0.3103	.	813	Q9BZQ8	NIBAN_HUMAN	V	813	ENSP00000356481:G813V	ENSP00000356481:G813V	G	-	2	0	FAM129A	183031083	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.072000	0.01377	-1.334000	0.02244	0.313000	0.20887	GGG		0.657	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			23	59	1	0	4.87955e-14	0.005443	7.3295e-14	23	59				
RNF2	6045	broad.mit.edu	37	1	185068982	185068982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185068982G>A	ENST00000367510.3	+	6	1085	c.797G>A	c.(796-798)aGg>aAg	p.R266K	RNF2_ENST00000367509.4_Missense_Mutation_p.R194K	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	266					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CTGGCTGTGAGGTTAGCTTTA	0.363																																							uc001grc.1		NA																	0				breast(1)	1						c.(796-798)AGG>AAG		ring finger protein 2							87.0	87.0	87.0					1																	185068982		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185068982G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.797G>A	1.37:g.185068982G>A	ENSP00000356480:p.Arg266Lys					RNF2_uc001grd.1_Missense_Mutation_p.R194K|RNF2_uc001gre.1_RNA	p.R266K	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	6	1030	+		Breast(1374;0.000496)	266					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.797G>A	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124010	0.94429	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.89617	-2.54	5.83	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.67397	2.05	0.53688	D	0.999975	B;D	0.69078	0.002;0.997	B;D	0.68039	0.003;0.955	D	0.89511	0.3771	10	0.06099	T	0.92	-2.1171	15.1768	0.72920	0.0677:0.0:0.9323:0.0	.	194;266	B3KRH1;Q99496	.;RING2_HUMAN	K	266;194	ENSP00000356480:R266K	ENSP00000356479:R194K	R	+	2	0	RNF2	183335605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.262000	0.95591	1.481000	0.48307	0.650000	0.86243	AGG		0.363	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		19	53	0	0	0	0.010504	0	19	53				
TRMT1L	81627	broad.mit.edu	37	1	185089601	185089601	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185089601C>A	ENST00000367506.5	-	14	2131	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	621	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTTTTGCTTCTTGCCTAAAT	0.338																																							uc001grf.3		NA																	0					0						c.(1861-1863)AAG>AAT		N2,N2-dimethylguanosine tRNA							168.0	160.0	162.0					1																	185089601		2203	4299	6502	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185089601C>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1863G>T	1.37:g.185089601C>A	ENSP00000356476:p.Lys621Asn					C1orf25_uc010pon.1_Missense_Mutation_p.K465N	p.K621N	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			14	2135	-			621					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.1863G>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385917	0.61956	.	.	ENSG00000121486	ENST00000367506	.	.	.	5.98	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64859	-0.6308	9	0.51188	T	0.08	-20.883	9.3196	0.37955	0.0:0.6474:0.0:0.3526	.	621	Q7Z2T5	TRM1L_HUMAN	N	621	.	ENSP00000356476:K621N	K	-	3	2	TRMT1L	183356224	0.989000	0.36119	0.992000	0.48379	0.960000	0.62799	0.336000	0.19823	0.796000	0.33947	0.591000	0.81541	AAG		0.338	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		13	39	1	0	0.00010058	0.001368	0.000112257	13	39				
HMCN1	83872	broad.mit.edu	37	1	185931747	185931747	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185931747G>C	ENST00000271588.4	+	12	2155	c.1926G>C	c.(1924-1926)aaG>aaC	p.K642N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.K642N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	642	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.K642N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAAACCAAAGATTGCCTGGA	0.428																																							uc001grq.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(1924-1926)AAG>AAC		hemicentin 1 precursor							218.0	199.0	206.0					1																	185931747		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931747G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1926G>C	1.37:g.185931747G>C	ENSP00000271588:p.Lys642Asn					HMCN1_uc001grr.1_5'UTR	p.K642N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			12	2155	+			642			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1926G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459731	0.26248	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.06	4.15	0.48705	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545201	0.20288	N	0.095318	T	0.53769	0.1817	L	0.31926	0.97	0.09310	N	1	B	0.31459	0.324	B	0.36418	0.224	T	0.40683	-0.9550	10	0.17369	T	0.5	.	9.1172	0.36764	0.2236:0.0:0.7764:0.0	.	642	Q96RW7	HMCN1_HUMAN	N	642	ENSP00000271588:K642N;ENSP00000356462:K642N	ENSP00000271588:K642N	K	+	3	2	HMCN1	184198370	0.007000	0.16637	0.298000	0.25002	0.780000	0.44128	0.212000	0.17497	1.256000	0.44068	0.591000	0.81541	AAG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		14	93	0	0	0	0.00499	0	14	93				
PRG4	10216	broad.mit.edu	37	1	186276708	186276708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186276708C>A	ENST00000445192.2	+	7	1902	c.1857C>A	c.(1855-1857)acC>acA	p.T619T	PRG4_ENST00000367483.4_Silent_p.T578T|PRG4_ENST00000367486.3_Silent_p.T576T|PRG4_ENST00000367485.4_Silent_p.T526T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	619	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.667																																							uc001gru.3		NA																	0				skin(1)	1						c.(1855-1857)ACC>ACA		proteoglycan 4 isoform A							61.0	57.0	58.0					1																	186276708		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276708C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1857C>A	1.37:g.186276708C>A						PRG4_uc001grt.3_Silent_p.T578T|PRG4_uc009wyl.2_Silent_p.T526T|PRG4_uc009wym.2_Silent_p.T485T|PRG4_uc010poo.1_Intron	p.T619T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1908	+			619			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|35; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1857C>A	CCDS1369.1																																																																																				0.667	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		26	22	1	0	0.000147802	0.00632	0.000164706	26	22				
PRG4	10216	broad.mit.edu	37	1	186277469	186277469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186277469C>A	ENST00000445192.2	+	7	2663	c.2618C>A	c.(2617-2619)cCt>cAt	p.P873H	PRG4_ENST00000367483.4_Missense_Mutation_p.P832H|PRG4_ENST00000367486.3_Missense_Mutation_p.P830H|PRG4_ENST00000367485.4_Missense_Mutation_p.P780H|PRG4_ENST00000367484.3_Missense_Mutation_p.P402H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	873					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACAAAAGCCCTGATGAATCA	0.502																																							uc001gru.3		NA																	0				skin(1)	1						c.(2617-2619)CCT>CAT		proteoglycan 4 isoform A							152.0	158.0	156.0					1																	186277469		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277469C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2618C>A	1.37:g.186277469C>A	ENSP00000399679:p.Pro873His					PRG4_uc001grt.3_Missense_Mutation_p.P832H|PRG4_uc009wyl.2_Missense_Mutation_p.P780H|PRG4_uc009wym.2_Missense_Mutation_p.P739H|PRG4_uc010poo.1_RNA	p.P873H	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2669	+			873					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2618C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	6.119	0.390275	0.11581	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06449	3.3;3.57;3.38;3.3;3.4	2.05	0.982	0.19762	.	0.723752	0.11156	U	0.593565	T	0.14056	0.0340	L	0.43923	1.385	0.09310	N	1	D;D;D;D	0.63880	0.993;0.993;0.988;0.993	P;P;P;P	0.61533	0.89;0.89;0.779;0.89	T	0.19418	-1.0306	10	0.72032	D	0.01	-2.2398	9.724	0.40320	0.2099:0.7901:0.0:0.0	.	739;780;873;832	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	830;402;739;832;780;873	ENSP00000356456:P830H;ENSP00000356454:P402H;ENSP00000356453:P832H;ENSP00000356455:P780H;ENSP00000399679:P873H	ENSP00000356452:P739H	P	+	2	0	PRG4	184544092	0.001000	0.12720	0.002000	0.10522	0.066000	0.16364	0.072000	0.14617	0.125000	0.18397	0.413000	0.27773	CCT		0.502	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		57	68	1	0	3.93605e-18	0.00361	6.47183e-18	57	68				
TPR	7175	broad.mit.edu	37	1	186287706	186287706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186287706C>A	ENST00000367478.4	-	48	6990	c.6694G>T	c.(6694-6696)Gat>Tat	p.D2232Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2232					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCGAAGCATCAGAGGTGGTG	0.383			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6694-6696)GAT>TAT		nuclear pore complex-associated protein TPR							115.0	102.0	106.0					1																	186287706		1920	4140	6060	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186287706C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6694G>T	1.37:g.186287706C>A	ENSP00000356448:p.Asp2232Tyr						p.D2232Y	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	48	6991	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2232					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6694G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893379	0.91889	.	.	ENSG00000047410	ENST00000367478	T	0.27256	1.68	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.52609	-0.8553	10	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	2232	P12270	TPR_HUMAN	Y	2232	ENSP00000356448:D2232Y	ENSP00000356448:D2232Y	D	-	1	0	TPR	184554329	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.747000	0.68689	2.736000	0.93811	0.655000	0.94253	GAT		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		14	39	1	0	0.00185496	0.001855	0.0019917	14	39				
BRINP3	339479	broad.mit.edu	37	1	190067745	190067745	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:190067745C>A	ENST00000367462.3	-	8	1935	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	BRINP3_ENST00000534846.1_Silent_p.V466V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	568					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AAACAGCCAACACTGGCTCCA	0.453																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1702-1704)GTG>GTT		family with sequence similarity 5, member C							80.0	85.0	83.0					1																	190067745		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067745C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1704G>T	1.37:g.190067745C>A						FAM5C_uc010pot.1_Silent_p.V466V	p.V568V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1936	-	Prostate(682;0.198)		568					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1704G>T	CCDS1373.1																																																																																				0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		42	52	1	0	3.61848e-18	0.007835	5.96325e-18	42	52				
PTPRC	5788	broad.mit.edu	37	1	198675957	198675957	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:198675957T>C	ENST00000367376.2	+	9	945	c.774T>C	c.(772-774)tgT>tgC	p.C258C	PTPRC_ENST00000348564.6_Silent_p.C99C|PTPRC_ENST00000442510.2_Silent_p.C260C|PTPRC_ENST00000594404.1_Silent_p.C97C|PTPRC_ENST00000352140.3_Silent_p.C210C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	258					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGTGGAATGTGGAAACAATA	0.313																																							uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(772-774)TGT>TGC		protein tyrosine phosphatase, receptor type, C							143.0	147.0	145.0					1																	198675957		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198675957T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.774T>C	1.37:g.198675957T>C						PTPRC_uc001gus.1_Silent_p.C210C|PTPRC_uc001gut.1_Silent_p.C97C|PTPRC_uc009wzf.1_Silent_p.C146C|PTPRC_uc010ppg.1_Silent_p.C194C	p.C258C	NM_002838	NP_002829	P08575	PTPRC_HUMAN			9	954	+			258			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.774T>C																																																																																					0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				45	67	0	0	0	0.003214	0	45	67				
NR5A2	2494	broad.mit.edu	37	1	200012940	200012940	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:200012940G>C	ENST00000367362.3	+	3	487	c.241G>C	c.(241-243)Gat>Cat	p.D81H	NR5A2_ENST00000544748.1_Missense_Mutation_p.D9H|NR5A2_ENST00000236914.3_Missense_Mutation_p.D35H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	81					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTATGATGAAGATCTGGAAGA	0.388																																					Melanoma(179;1138 2773 15678 26136)	Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(241-243)GAT>CAT		nuclear receptor subfamily 5, group A, member 2							116.0	109.0	112.0					1																	200012940		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200012940G>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.241G>C	1.37:g.200012940G>C	ENSP00000356331:p.Asp81His					NR5A2_uc001gvc.2_Missense_Mutation_p.D35H|NR5A2_uc009wzh.2_Missense_Mutation_p.D41H|NR5A2_uc010pph.1_Missense_Mutation_p.D9H	p.D81H	NM_205860	NP_995582	O00482	NR5A2_HUMAN			3	447	+	Prostate(682;0.19)		81					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.241G>C	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.062647|5.062647	0.93898|0.93898	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94758|.	-3.48;-3.51;-3.5|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Zinc finger, NHR/GATA-type (1);|.	0.042516|.	0.85682|.	D|.	0.000000|.	T|T	0.61198|0.61198	0.2328|0.2328	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P|.	0.39352|.	0.669;0.577|.	P;P|.	0.51999|.	0.572;0.687|.	T|T	0.52646|0.52646	-0.8548|-0.8548	9|5	.|.	.|.	.|.	.|.	20.3052|20.3052	0.98627|0.98627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	35;81|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	H|N	81;35;9;1|1	ENSP00000356331:D81H;ENSP00000236914:D35H;ENSP00000439116:D9H|.	.|.	D|K	+|+	1|3	0|2	NR5A2|NR5A2	198279563|198279563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.343000|9.343000	0.97047|0.97047	2.814000|2.814000	0.96858|0.96858	0.650000|0.650000	0.86243|0.86243	GAT|AAG		0.388	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			13	16	0	0	0	0.00245	0	13	16				
RNPEP	6051	broad.mit.edu	37	1	201969078	201969078	+	Missense_Mutation	SNP	G	G	C	rs202127308		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:201969078G>C	ENST00000295640.4	+	6	1182	c.1139G>C	c.(1138-1140)cGt>cCt	p.R380P	RNPEP_ENST00000367286.3_Missense_Mutation_p.R341P|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	380					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCTCTGCTGCGTCAGCACATG	0.582											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(19;39 479 7473 13131 19462)	GBM(19;39 479 7473 13131 19462)	uc001gxd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1138-1140)CGT>CCT		arginyl aminopeptidase							95.0	82.0	86.0					1																	201969078		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201969078G>C	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1139G>C	1.37:g.201969078G>C	ENSP00000295640:p.Arg380Pro		OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2125	RNPEP_uc001gxe.2_Missense_Mutation_p.R81P|RNPEP_uc001gxf.2_Missense_Mutation_p.R249P	p.R380P	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	6	1168	+			380					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1139G>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679782	0.68042	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.02737	4.18;4.18;4.18	5.21	2.04	0.26737	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.079522	0.51477	D	0.000092	T	0.06962	0.0177	L	0.55213	1.73	0.44181	D	0.996994	P;P	0.47302	0.893;0.881	P;P	0.57911	0.829;0.829	T	0.39231	-0.9624	10	0.33141	T	0.24	-10.2011	6.6103	0.22747	0.1819:0.1459:0.6722:0.0	.	388;380	Q7RU04;Q9H4A4	.;AMPB_HUMAN	P	380;341;249	ENSP00000295640:R380P;ENSP00000356255:R341P;ENSP00000389602:R249P	ENSP00000295640:R380P	R	+	2	0	RNPEP	200235701	0.839000	0.29477	0.105000	0.21289	0.968000	0.65278	3.385000	0.52485	0.539000	0.28788	0.491000	0.48974	CGT		0.582	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		4	25	0	0	0	0.000602	0	4	25				
CHI3L1	1116	broad.mit.edu	37	1	203149636	203149637	+	Missense_Mutation	DNP	GG	GG	AT	rs138989209		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:203149636_203149637GG>AT	ENST00000255409.3	-	8	980_981	c.855_856CC>AT	c.(853-858)ggCCgg>ggATgg	p.R286W		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	286					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTGGTGAACCGGCCTGGAATTC	0.584																																							uc001gzi.2		NA																	0				pancreas(1)	1						c.(853-858)GGCCGG>GGATGG		chitinase 3-like 1 precursor																																				SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203149636_203149637GG>AT	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.855_856delinsAT	1.37:g.203149636_203149637delinsAT	ENSP00000255409:p.Arg286Trp					FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	p.R286W	NM_001276	NP_001267	P36222	CH3L1_HUMAN			8	1026_1027	-			286					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	DNP	ENST00000255409.3	37	c.855_856CC>AT	CCDS1435.1																																																																																				0.584	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		13	24	0	0	0	0.004672	0	13	24				
CR1L	1379	broad.mit.edu	37	1	207881565	207881565	+	Silent	SNP	G	G	C	rs547423972	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:207881565G>C	ENST00000508064.2	+	10	1431	c.1371G>C	c.(1369-1371)tcG>tcC	p.S457S	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	457	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATCCTCTCGGGCAATACTG	0.453																																							uc001hga.3		NA																	0					0						c.(1369-1371)TCG>TCC		complement component (3b/4b) receptor 1-like							277.0	265.0	269.0					1																	207881565		1894	4114	6008	SO:0001819	synonymous_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207881565G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1371G>C	1.37:g.207881565G>C						CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	p.S457S	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			10	1492	+			457			Sushi 7.		Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.1371G>C	CCDS44310.1																																																																																				0.453	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		24	126	0	0	0	0.004656	0	24	126				
RPS6KC1	26750	broad.mit.edu	37	1	213415634	213415634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:213415634G>C	ENST00000366960.3	+	11	2965	c.2815G>C	c.(2815-2817)Gat>Cat	p.D939H	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D927H|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D642H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D727H	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	939	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTATTGAATGATAGAGGTCA	0.388																																							uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(2815-2817)GAT>CAT		ribosomal protein S6 kinase, 52kDa, polypeptide							81.0	84.0	83.0					1																	213415634		2131	4256	6387	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415634G>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2815G>C	1.37:g.213415634G>C	ENSP00000355927:p.Asp939His					RPS6KC1_uc001hkd.2_Missense_Mutation_p.D927H|RPS6KC1_uc010pts.1_Missense_Mutation_p.D727H|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D727H|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D758H|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D474H|RPS6KC1_uc001hke.2_Missense_Mutation_p.D758H	p.D939H	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2974	+			939			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2815G>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051286	0.85682	D	0.000000	T	0.70596	0.3242	L	0.41124	1.26	0.53688	D	0.999974	P;P;P	0.45428	0.849;0.858;0.858	P;P;P	0.57502	0.822;0.81;0.81	T	0.68153	-0.5484	10	0.41790	T	0.15	-39.624	19.4315	0.94772	0.0:0.0:1.0:0.0	.	727;939;927	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	H	727;939;927;642	ENSP00000442306:D727H;ENSP00000355927:D939H;ENSP00000355926:D927H;ENSP00000439282:D642H	ENSP00000355926:D927H	D	+	1	0	RPS6KC1	211482257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.737000	0.74816	2.600000	0.87896	0.655000	0.94253	GAT		0.388	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		31	82	0	0	0	0.003755	0	31	82				
PROX1	5629	broad.mit.edu	37	1	214170420	214170420	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:214170420G>T	ENST00000366958.4	+	2	1150	c.542G>T	c.(541-543)aGt>aTt	p.S181I	PROX1_ENST00000498508.2_Missense_Mutation_p.S181I|PROX1_ENST00000261454.4_Missense_Mutation_p.S181I|PROX1_ENST00000435016.1_Missense_Mutation_p.S181I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	181					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATTCCCCCAGTGTGGCATTA	0.493																																							uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(541-543)AGT>ATT		prospero homeobox 1							50.0	55.0	53.0					1																	214170420		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170420G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.542G>T	1.37:g.214170420G>T	ENSP00000355925:p.Ser181Ile					PROX1_uc001hkg.1_Missense_Mutation_p.S181I	p.S181I	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	814	+			181					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.542G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820598	0.32145	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.77	5.77	0.91146	.	0.073208	0.85682	D	0.000000	T	0.21881	0.0527	L	0.42245	1.32	0.47905	D	0.999541	B	0.18610	0.029	B	0.24701	0.055	T	0.01725	-1.1287	10	0.59425	D	0.04	-3.3328	13.5594	0.61779	0.0711:0.0:0.9289:0.0	.	181	Q92786	PROX1_HUMAN	I	181	ENSP00000419517:S181I;ENSP00000420283:S181I;ENSP00000355925:S181I;ENSP00000400694:S181I;ENSP00000261454:S181I	ENSP00000261454:S181I	S	+	2	0	PROX1	212237043	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.767000	0.62286	2.885000	0.99019	0.655000	0.94253	AGT		0.493	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		26	33	1	0	4.87955e-14	0.005443	7.3295e-14	26	33				
CENPF	1063	broad.mit.edu	37	1	214836933	214836933	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:214836933G>T	ENST00000366955.3	+	20	9309		c.e20-1			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGTGTTGCAGGTCAAAGTTG	0.423																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.e20-1		centromere protein F							50.0	48.0	49.0					1																	214836933		2203	4300	6503	SO:0001630	splice_region_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214836933G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9142-1G>T	1.37:g.214836933G>T							p.V3048_splice	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	20	9316	+								Q13171|Q13246|Q5VVM7	Splice_Site	SNP	ENST00000366955.3	37	c.9142_splice	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670698	0.29693	.	.	ENSG00000117724	ENST00000366955	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6358	0.62221	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPF	212903556	1.000000	0.71417	0.997000	0.53966	0.159000	0.22180	4.770000	0.62309	2.357000	0.79964	0.563000	0.77884	.		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	Intron	15	15	1	0	2.35188e-11	0.006122	3.27673e-11	15	15				
USH2A	7399	broad.mit.edu	37	1	216591863	216591863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:216591863C>A	ENST00000307340.3	-	3	1030	c.644G>T	c.(643-645)aGt>aTt	p.S215I	USH2A_ENST00000366943.2_Missense_Mutation_p.S215I|USH2A_ENST00000366942.3_Missense_Mutation_p.S215I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	215					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTGCACACTAAGATGAAT	0.333										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(643-645)AGT>ATT		usherin isoform B							91.0	91.0	91.0					1																	216591863		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216591863C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.644G>T	1.37:g.216591863C>A	ENSP00000305941:p.Ser215Ile	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.S215I	p.S215I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	3	1031	-			215			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.644G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399595	0.42512	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.73469	-0.75;-0.75;-0.75	5.62	3.7	0.42460	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.133374	0.33712	U	0.004637	T	0.79161	0.4399	L	0.54323	1.7	0.29682	N	0.841628	P;D	0.58268	0.673;0.982	B;P	0.60473	0.382;0.875	T	0.75309	-0.3363	10	0.72032	D	0.01	.	9.4103	0.38487	0.0:0.6546:0.2734:0.072	.	215;215	O75445-2;O75445	.;USH2A_HUMAN	I	215	ENSP00000305941:S215I;ENSP00000355910:S215I;ENSP00000355909:S215I	ENSP00000305941:S215I	S	-	2	0	USH2A	214658486	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	0.768000	0.26590	0.686000	0.31488	0.655000	0.94253	AGT		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	50	1	0	5.26018e-13	0.001882	7.68508e-13	19	50				
DISP1	84976	broad.mit.edu	37	1	223178307	223178307	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:223178307G>C	ENST00000284476.6	+	8	3732	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1190					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.E1190Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACTGGAGCATGAGTTTTATGA	0.453																																							uc001hnu.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3568-3570)GAG>CAG		dispatched A							69.0	74.0	72.0					1																	223178307		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178307G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3568G>C	1.37:g.223178307G>C	ENSP00000284476:p.Glu1190Gln						p.E1190Q	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3715	+			1190					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3568G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319915	0.81469	.	.	ENSG00000154309	ENST00000284476	D	0.93906	-3.31	5.75	5.75	0.90469	.	0.098252	0.64402	D	0.000002	D	0.94909	0.8354	L	0.36672	1.1	0.50813	D	0.999894	D	0.76494	0.999	D	0.66084	0.941	D	0.95251	0.8360	10	0.87932	D	0	-34.6305	19.9478	0.97189	0.0:0.0:1.0:0.0	.	1190	Q96F81	DISP1_HUMAN	Q	1190	ENSP00000284476:E1190Q	ENSP00000284476:E1190Q	E	+	1	0	DISP1	221244930	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.246000	0.72405	2.721000	0.93114	0.561000	0.74099	GAG		0.453	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		31	32	0	0	0	0.008361	0	31	32				
SDE2	163859	broad.mit.edu	37	1	226175779	226175779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:226175779C>A	ENST00000272091.7	-	6	970	c.952G>T	c.(952-954)Gag>Tag	p.E318*		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	318																	TCCTGGGTCTCTTCTGTTTCT	0.498																																							uc001hpu.3		NA																	0				lung(1)	1						c.(952-954)GAG>TAG		hypothetical protein LOC163859							207.0	192.0	197.0					1																	226175779		1901	4116	6017	SO:0001587	stop_gained	163859							g.chr1:226175779C>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.952G>T	1.37:g.226175779C>A	ENSP00000272091:p.Glu318*					C1orf55_uc001hpv.2_Nonsense_Mutation_p.E318*	p.E318*	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	1005	-	Breast(184;0.197)		318					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Nonsense_Mutation	SNP	ENST00000272091.7	37	c.952G>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	36	5.741584	0.96873	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	.	.	.	5.9	2.84	0.33178	.	1.083460	0.06912	N	0.807863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-1.2765	5.7515	0.18150	0.0:0.5945:0.1579:0.2476	.	.	.	.	X	318;306;223	.	ENSP00000272091:E318X	E	-	1	0	C1orf55	224242402	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	0.262000	0.18460	0.275000	0.22094	0.650000	0.86243	GAG		0.498	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		31	93	1	0	1.99505e-19	0.002445	3.36475e-19	31	93				
C1orf95	375057	broad.mit.edu	37	1	226784513	226784513	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:226784513C>A	ENST00000366788.3	+	2	318	c.213C>A	c.(211-213)gtC>gtA	p.V71V	C1orf95_ENST00000366789.4_Silent_p.V71V	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	71						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGACATTCGTCTCGGCCTTCA	0.627																																							uc010pvn.1		NA																	0				ovary(1)	1						c.(211-213)GTC>GTA		hypothetical protein LOC375057							85.0	81.0	83.0					1																	226784513		2203	4300	6503	SO:0001819	synonymous_variant	375057					integral to membrane		g.chr1:226784513C>A	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.213C>A	1.37:g.226784513C>A							p.V71V	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	318	+	Breast(184;0.133)	Prostate(94;0.0885)	71			Helical; (Potential).		A6NGL2	Silent	SNP	ENST00000366788.3	37	c.213C>A	CCDS31044.1																																																																																				0.627	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		23	76	1	0	2.41591e-17	0.004656	3.8968e-17	23	76				
CDC42BPA	8476	broad.mit.edu	37	1	227504797	227504797	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:227504797C>A	ENST00000366769.3	-	1	1378	c.87G>T	c.(85-87)gaG>gaT	p.E29D	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E29D	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCAGTAATGTCTCCACACTGA	0.438																																							uc001hqr.2		NA																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(85-87)GAG>GAT		CDC42-binding protein kinase alpha isoform B							135.0	121.0	125.0					1																	227504797		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227504797C>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.87G>T	1.37:g.227504797C>A	ENSP00000355731:p.Glu29Asp					CDC42BPA_uc001hqs.2_Missense_Mutation_p.E29D|CDC42BPA_uc009xes.2_Missense_Mutation_p.E29D|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E29D	p.E29D	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			1	1030	-		all_cancers(173;0.156)|Prostate(94;0.0792)	29						Missense_Mutation	SNP	ENST00000366769.3	37	c.87G>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424850	0.43020	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.69561	-0.39;-0.34;-0.38;-0.39;-0.4;-0.35;-0.41	4.82	1.82	0.25136	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	L	0.47190	1.495	0.45946	D	0.99877	D;B;D;P	0.54601	0.967;0.444;0.967;0.84	D;B;D;P	0.69479	0.964;0.148;0.964;0.575	T	0.63773	-0.6561	10	0.23891	T	0.37	.	9.9148	0.41427	0.0:0.7263:0.0:0.2737	.	29;29;29;29	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	D	29	ENSP00000355731:E29D;ENSP00000355729:E29D;ENSP00000335341:E29D;ENSP00000355728:E29D;ENSP00000355726:E29D;ENSP00000443275:E29D;ENSP00000355727:E29D	ENSP00000335341:E29D	E	-	3	2	CDC42BPA	225571420	0.997000	0.39634	0.982000	0.44146	0.972000	0.66771	0.507000	0.22675	0.155000	0.19261	0.563000	0.77884	GAG		0.438	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		20	49	1	0	1.28384e-07	0.001882	1.59183e-07	20	49				
WNT9A	7483	broad.mit.edu	37	1	228109639	228109639	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:228109639C>T	ENST00000272164.5	-	4	688	c.678G>A	c.(676-678)gtG>gtA	p.V226V		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	226					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGCAGGTCCGCACCGTGCATG	0.627																																							uc001hri.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(676-678)GTG>GTA		wingless-type MMTV integration site family,							55.0	56.0	56.0					1																	228109639		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109639C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.678G>A	1.37:g.228109639C>T							p.V226V	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	766	-		Prostate(94;0.0405)	226					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.678G>A	CCDS31045.1																																																																																				0.627	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		9	54	0	0	0	0.004482	0	9	54				
TRIM67	440730	broad.mit.edu	37	1	231344799	231344799	+	Silent	SNP	C	C	T	rs375362513		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:231344799C>T	ENST00000366653.5	+	8	1926	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	TRIM67_ENST00000444294.3_Silent_p.G640G|TRIM67_ENST00000366652.2_Silent_p.G642G|TRIM67_ENST00000449018.3_Silent_p.G580G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	642	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGTGCTGGGCACAGCTGCGT	0.617																																							uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1924-1926)GGC>GGT		tripartite motif-containing 67							88.0	97.0	94.0					1																	231344799		2182	4288	6470	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344799C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1926C>T	1.37:g.231344799C>T							p.G642G	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			8	1968	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	642			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1926C>T	CCDS44333.1																																																																																				0.617	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		22	105	0	0	0	0.001882	0	22	105				
NID1	4811	broad.mit.edu	37	1	236205413	236205413	+	Missense_Mutation	SNP	G	G	A	rs202199892	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:236205413G>A	ENST00000264187.6	-	4	1014	c.932C>T	c.(931-933)aCg>aTg	p.T311M	NID1_ENST00000366595.3_Missense_Mutation_p.T311M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	311					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGAGAAGGGCGTGGTGCCCAC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		20498	0.0		0.002	False		,,,				2504	0.0						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(931-933)ACG>ATG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						136.0	121.0	126.0					1																	236205413		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205413G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.932C>T	1.37:g.236205413G>A	ENSP00000264187:p.Thr311Met					NID1_uc009xgd.2_Missense_Mutation_p.T311M	p.T311M	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1034	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	311					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.932C>T	CCDS1608.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.28	1.891691	0.33442	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88509	-1.74;-2.39	5.2	2.14	0.27477	.	2.075870	0.01607	N	0.022340	D	0.90494	0.7022	L	0.50333	1.59	0.09310	N	1	D;P	0.63046	0.992;0.932	P;B	0.54431	0.752;0.315	T	0.74612	-0.3607	10	0.42905	T	0.14	.	7.0624	0.25133	0.0799:0.0:0.6136:0.3065	.	311;311	P14543-2;P14543	.;NID1_HUMAN	M	311	ENSP00000264187:T311M;ENSP00000355554:T311M	ENSP00000264187:T311M	T	-	2	0	NID1	234272036	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.083000	0.11286	0.282000	0.22254	0.563000	0.77884	ACG		0.597	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		65	54	0	0	0	0.00361	0	65	54				
GPR137B	7107	broad.mit.edu	37	1	236306325	236306325	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:236306325T>A	ENST00000366592.3	+	1	494	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	GPR137B_ENST00000366591.4_Missense_Mutation_p.Y135N	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	135						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GATGAACTTGTACTTCACGCA	0.647																																							uc001hxq.2		NA																	0					0						c.(403-405)TAC>AAC		G protein-coupled receptor 137B							93.0	90.0	91.0					1																	236306325		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236306325T>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.403T>A	1.37:g.236306325T>A	ENSP00000355551:p.Tyr135Asn						p.Y135N	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	494	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	135			Cytoplasmic (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.403T>A	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632098	0.87660	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.29397	1.57;1.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64761	-0.6331	10	0.87932	D	0	-14.3131	14.5671	0.68185	0.0:0.0:0.0:1.0	.	135	O60478	G137B_HUMAN	N	135;135;134	ENSP00000355551:Y135N;ENSP00000355550:Y135N	ENSP00000355550:Y135N	Y	+	1	0	GPR137B	234372948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.775000	0.85489	1.841000	0.53522	0.454000	0.30748	TAC		0.647	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		10	82	0	0	0	0.000978	0	10	82				
RYR2	6262	broad.mit.edu	37	1	237947958	237947958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:237947958G>T	ENST00000366574.2	+	90	13263	c.12946G>T	c.(12946-12948)Gga>Tga	p.G4316*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.G4322*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.G4300*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4316					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCTTGGGGGAAGCCTCGT	0.507																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12946-12948)GGA>TGA		cardiac muscle ryanodine receptor							79.0	76.0	77.0					1																	237947958		1913	4129	6042	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947958G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12946G>T	1.37:g.237947958G>T	ENSP00000355533:p.Gly4316*					RYR2_uc010pya.1_Nonsense_Mutation_p.G731*	p.G4316*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13066	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4316					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.12946G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	53	20.667243	0.99933	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.11	5.11	0.69529	.	0.411423	0.21595	N	0.072037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-8.5506	18.735	0.91750	0.0:0.0:1.0:0.0	.	.	.	.	X	4316;4322;4300;1290	.	ENSP00000353174:G4322X	G	+	1	0	RYR2	236014581	1.000000	0.71417	0.926000	0.36857	0.349000	0.29174	9.580000	0.98207	2.657000	0.90304	0.655000	0.94253	GGA		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	43	1	0	2.21704e-12	0.00278	3.1779e-12	25	43				
FMN2	56776	broad.mit.edu	37	1	240370183	240370183	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:240370183G>A	ENST00000319653.9	+	5	2301	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	691					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAAAATAGCTGAACTAGA	0.517																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2071-2073)GCT>ACT		formin 2							67.0	68.0	67.0					1																	240370183		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370183G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2071G>A	1.37:g.240370183G>A	ENSP00000318884:p.Ala691Thr					FMN2_uc010pye.1_Missense_Mutation_p.A695T	p.A691T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2296	+	Ovarian(103;0.127)	all_cancers(173;0.013)	691			Potential.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2071G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963342	0.53507	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.46451	0.87	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000004	T	0.65698	0.2716	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.66771	-0.5839	10	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	691	Q9NZ56	FMN2_HUMAN	T	128;691	ENSP00000318884:A691T	ENSP00000318884:A691T	A	+	1	0	FMN2	238436806	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.777000	0.75028	2.768000	0.95171	0.655000	0.94253	GCT		0.517	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		23	45	0	0	0	0.00333	0	23	45				
AHCTF1	25909	broad.mit.edu	37	1	247013073	247013073	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247013073C>T	ENST00000391829.2	-	33	6358	c.6235G>A	c.(6235-6237)Gag>Aag	p.E2079K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E2088K|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E2114K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2079	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTTCCTGCTCATTTGTTTCT	0.433																																					Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(6235-6237)GAG>AAG		transcription factor ELYS							135.0	112.0	119.0					1																	247013073		2203	4297	6500	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013073C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6235G>A	1.37:g.247013073C>T	ENSP00000375705:p.Glu2079Lys					AHCTF1_uc001ibv.1_Missense_Mutation_p.E2088K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E940K|AHCTF1_uc001ibw.1_RNA	p.E2079K	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	6242	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2079			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6235G>A		.	.	.	.	.	.	.	.	.	.	C	8.400	0.841742	0.16963	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33654	1.4;1.4;1.4	5.84	0.225	0.15325	.	1.753070	0.02508	N	0.091250	T	0.13543	0.0328	N	0.03608	-0.345	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.15870	0.014;0.006	T	0.19647	-1.0299	10	0.05436	T	0.98	0.2118	1.9971	0.03459	0.1477:0.176:0.1467:0.5296	.	2114;2079	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	2114;2088;2079	ENSP00000355464:E2114K;ENSP00000355465:E2088K;ENSP00000375705:E2079K	ENSP00000355465:E2088K	E	-	1	0	AHCTF1	245079696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.352000	0.07701	-0.155000	0.11098	-0.169000	0.13324	GAG		0.433	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		19	50	0	0	0	0.002299	0	19	50				
ZNF496	84838	broad.mit.edu	37	1	247492105	247492105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247492105C>A	ENST00000294753.4	-	4	918	c.454G>T	c.(454-456)Gag>Tag	p.E152*	ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E152*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCAGCTGCTCCTGCTCCTGG	0.597																																							uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(454-456)GAG>TAG		zinc finger protein 496							114.0	117.0	116.0					1																	247492105		2203	4300	6503	SO:0001587	stop_gained	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492105C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.454G>T	1.37:g.247492105C>A	ENSP00000294753:p.Glu152*					ZNF496_uc009xgv.2_Nonsense_Mutation_p.E152*|ZNF496_uc001icp.2_Nonsense_Mutation_p.E152*|ZNF496_uc010pyv.1_Nonsense_Mutation_p.E152*	p.E152*	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		4	919	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		152					Q8TBS2	Nonsense_Mutation	SNP	ENST00000294753.4	37	c.454G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452431	0.98292	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	.	.	.	4.85	3.92	0.45320	.	0.458235	0.18477	N	0.140023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-20.3448	11.3222	0.49428	0.0:0.8167:0.1833:0.0	.	.	.	.	X	152	.	ENSP00000294753:E152X	E	-	1	0	ZNF496	245558728	0.022000	0.18835	0.593000	0.28771	0.789000	0.44602	0.951000	0.29135	1.398000	0.46701	0.561000	0.74099	GAG		0.597	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		26	125	1	0	1.5548e-18	0.005443	2.57113e-18	26	125				
OR2W5	441932	broad.mit.edu	37	1	247654766	247654766	+	RNA	SNP	G	G	T	rs145704231	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247654766G>T	ENST00000522351.1	+	0	397							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCGAGTGCGTCCTCCTGGT	0.602																																							uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(337-339)GTC>TTC		olfactory receptor, family 2, subfamily W,							101.0	93.0	96.0					1																	247654766		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654766G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654766G>T							p.V113F	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	337	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	113			Helical; Name=3; (Potential).		B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.337G>T																																																																																					0.602	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		56	46	1	0	1.74971e-23	0.00361	3.1265e-23	56	46				
OR2G3	81469	broad.mit.edu	37	1	247769203	247769203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247769203G>T	ENST00000320002.2	+	1	348	c.316G>T	c.(316-318)Gca>Tca	p.A106S	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATTTCTCTGGCACTGGGCTC	0.488																																							uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(316-318)GCA>TCA		olfactory receptor, family 2, subfamily G,							286.0	251.0	263.0					1																	247769203		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769203G>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.316G>T	1.37:g.247769203G>T	ENSP00000326301:p.Ala106Ser						p.A106S	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	316	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		106			Helical; Name=3; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.316G>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166468	0.21621	.	.	ENSG00000177476	ENST00000320002	T	0.02085	4.46	3.8	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.205244	0.23209	U	0.050698	T	0.01695	0.0054	N	0.17564	0.495	0.09310	N	1	P	0.38020	0.615	B	0.39379	0.298	T	0.50440	-0.8828	10	0.27082	T	0.32	.	5.8879	0.18892	0.2388:0.0:0.7612:0.0	.	106	Q8NGZ4	OR2G3_HUMAN	S	106	ENSP00000326301:A106S	ENSP00000326301:A106S	A	+	1	0	OR2G3	245835826	0.000000	0.05858	0.001000	0.08648	0.928000	0.56348	-0.702000	0.05069	0.940000	0.37473	0.492000	0.49549	GCA		0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			51	156	1	0	1.54886e-18	0.00361	2.57113e-18	51	156				
OR2L8	391190	broad.mit.edu	37	1	248112897	248112897	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248112897A>T	ENST00000357191.3	+	1	738	c.738A>T	c.(736-738)gtA>gtT	p.V246V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCTCACTGTAGTAACTTTCT	0.468																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(736-738)GTA>GTT		olfactory receptor, family 2, subfamily L,							154.0	111.0	126.0					1																	248112897		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112897A>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.738A>T	1.37:g.248112897A>T						OR2L13_uc001ids.2_Intron	p.V246V	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	738	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		246			Helical; Name=6; (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.738A>T	CCDS31101.1																																																																																				0.468	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			27	102	0	0	0	0.009535	0	27	102				
OR2M3	127062	broad.mit.edu	37	1	248366414	248366414	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248366414G>T	ENST00000456743.1	+	1	83	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCCTCCTGGGAATCTTCA	0.463																																							uc010pzg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(43-45)CTG>CTT		olfactory receptor, family 2, subfamily M,							217.0	219.0	218.0					1																	248366414		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366414G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.45G>T	1.37:g.248366414G>T							p.L15L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	45	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		15			Extracellular (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.45G>T	CCDS31107.1																																																																																				0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		52	187	1	0	4.09171e-25	0.00361	7.44041e-25	52	187				
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248458257G>T	ENST00000317996.1	-	1	623	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(622-624)CCC>CCA		olfactory receptor, family 2, subfamily T,							48.0	42.0	44.0					1																	248458257		2202	4282	6484	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458257G>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.624C>A	1.37:g.248458257G>T							p.P208P	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	624	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		208			Helical; Name=5; (Potential).			Silent	SNP	ENST00000317996.1	37	c.624C>A	CCDS31110.1																																																																																				0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		40	52	1	0	4.67007e-22	0.00874	8.16271e-22	40	52				
OR14C36	127066	broad.mit.edu	37	1	248512430	248512430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248512430T>A	ENST00000317861.1	+	1	354	c.354T>A	c.(352-354)caT>caA	p.H118Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTATGGCTCATGACCGCTATG	0.502																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(352-354)CAT>CAA		olfactory receptor, family 14, subfamily C,							65.0	57.0	60.0					1																	248512430		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512430T>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.354T>A	1.37:g.248512430T>A	ENSP00000324534:p.His118Gln						p.H118Q	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	354	+			118			Helical; Name=3; (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.354T>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	T	9.440	1.087799	0.20390	.	.	ENSG00000177174	ENST00000317861	T	0.00882	5.58	4.05	-5.23	0.02798	GPCR, rhodopsin-like superfamily (1);	1.480450	0.04291	N	0.345472	T	0.00637	0.0021	N	0.12471	0.22	0.09310	N	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.48937	-0.8990	10	0.66056	D	0.02	.	1.8908	0.03247	0.2276:0.0782:0.303:0.3913	.	118	Q8NHC7	O14CZ_HUMAN	Q	118	ENSP00000324534:H118Q	ENSP00000324534:H118Q	H	+	3	2	OR14C36	246579053	0.000000	0.05858	0.002000	0.10522	0.613000	0.37349	-1.360000	0.02600	-1.310000	0.02312	0.324000	0.21423	CAT		0.502	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		13	16	0	0	0	0.001855	0	13	16				
OR14C36	127066	broad.mit.edu	37	1	248512455	248512455	+	Missense_Mutation	SNP	C	C	A	rs534027046		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248512455C>A	ENST00000317861.1	+	1	379	c.379C>A	c.(379-381)Cca>Aca	p.P127T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGTCTGCCAGCCACTTCACTA	0.507													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20982	0.0		0.0	False		,,,				2504	0.0						uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(379-381)CCA>ACA		olfactory receptor, family 14, subfamily C,							76.0	68.0	70.0					1																	248512455		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512455C>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.379C>A	1.37:g.248512455C>A	ENSP00000324534:p.Pro127Thr						p.P127T	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	379	+			127			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.379C>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062891	0.76187	.	.	ENSG00000177174	ENST00000317861	T	0.01887	4.58	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.23451	0.0567	H	0.99058	4.415	0.42155	D	0.991571	D	0.67145	0.996	D	0.65010	0.931	T	0.55218	-0.8175	10	0.87932	D	0	.	16.1495	0.81602	0.0:1.0:0.0:0.0	.	127	Q8NHC7	O14CZ_HUMAN	T	127	ENSP00000324534:P127T	ENSP00000324534:P127T	P	+	1	0	OR14C36	246579078	0.990000	0.36364	0.987000	0.45799	0.792000	0.44763	5.706000	0.68362	2.130000	0.65690	0.395000	0.25975	CCA		0.507	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		18	19	1	0	2.35188e-11	0.006122	3.27673e-11	18	19				
OR2T4	127074	broad.mit.edu	37	1	248525105	248525105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248525105G>A	ENST00000366475.1	+	1	223	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTGGAAATGCTGTCCTGAT	0.463																																							uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(223-225)GCT>ACT		olfactory receptor, family 2, subfamily T,							390.0	293.0	326.0					1																	248525105		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525105G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.223G>A	1.37:g.248525105G>A	ENSP00000355431:p.Ala75Thr						p.A75T	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	223	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		75			Helical; Name=1; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.223G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405840	0.04832	.	.	ENSG00000196944	ENST00000366475	T	0.00932	5.53	3.48	-3.11	0.05299	GPCR, rhodopsin-like superfamily (1);	0.984958	0.08254	N	0.974174	T	0.00412	0.0013	N	0.04162	-0.26	0.09310	N	1	B	0.02656	0.0	B	0.15484	0.013	T	0.47235	-0.9133	10	0.06099	T	0.92	.	0.6163	0.00770	0.2455:0.1237:0.3033:0.3275	.	75	Q8NH00	OR2T4_HUMAN	T	75	ENSP00000355431:A75T	ENSP00000355431:A75T	A	+	1	0	OR2T4	246591728	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	-3.807000	0.00361	-0.063000	0.13065	0.485000	0.47835	GCT		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		21	252	0	0	0	0.004656	0	21	252				
OR2T6	254879	broad.mit.edu	37	1	248551323	248551323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248551323G>T	ENST00000355728.2	+	1	414	c.414G>T	c.(412-414)tgG>tgT	p.W138C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCAGCTGGCGGGTCTGCT	0.582																																							uc001iei.1		NA																	0				ovary(2)|skin(1)	3						c.(412-414)TGG>TGT		olfactory receptor, family 2, subfamily T,							80.0	77.0	78.0					1																	248551323		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551323G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.414G>T	1.37:g.248551323G>T	ENSP00000347965:p.Trp138Cys						p.W138C	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	414	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138			Cytoplasmic (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.414G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	1.100	-0.661320	0.03454	.	.	ENSG00000198104	ENST00000355728	T	0.37058	1.22	4.19	-8.38	0.00973	GPCR, rhodopsin-like superfamily (1);	0.721394	0.11921	N	0.516641	T	0.29749	0.0743	M	0.79926	2.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	10	0.54805	T	0.06	.	4.0584	0.09827	0.3759:0.2028:0.3449:0.0764	.	138	Q8NHC8	OR2T6_HUMAN	C	138	ENSP00000347965:W138C	ENSP00000347965:W138C	W	+	3	0	OR2T6	246617946	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.047000	0.01408	-1.875000	0.01132	-0.152000	0.13540	TGG		0.582	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		26	32	1	0	4.22769e-11	0.00632	5.82824e-11	26	32				
OR2T1	26696	broad.mit.edu	37	1	248569867	248569867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248569867G>T	ENST00000366474.1	+	1	572	c.572G>T	c.(571-573)tGt>tTt	p.C191F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCCGGGTCTGTTGGATGATT	0.547																																							uc010pzm.1		NA																	0				pancreas(1)	1						c.(571-573)TGT>TTT		olfactory receptor, family 2, subfamily T,							96.0	95.0	95.0					1																	248569867		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569867G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.572G>T	1.37:g.248569867G>T	ENSP00000355430:p.Cys191Phe						p.C191F	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	572	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		191			Cytoplasmic (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.572G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134652	0.56828	.	.	ENSG00000175143	ENST00000366474	T	0.00392	7.58	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001203	T	0.01061	0.0035	M	0.92784	3.345	0.37603	D	0.920636	P	0.45827	0.867	P	0.55615	0.78	T	0.47787	-0.9090	10	0.72032	D	0.01	.	13.2379	0.59979	0.0:0.1609:0.8391:0.0	.	191	O43869	OR2T1_HUMAN	F	191	ENSP00000355430:C191F	ENSP00000355430:C191F	C	+	2	0	OR2T1	246636490	0.952000	0.32445	0.997000	0.53966	0.994000	0.84299	3.612000	0.54142	2.505000	0.84491	0.650000	0.86243	TGT		0.547	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			51	41	1	0	6.9144e-35	0.00361	1.30164e-34	51	41				
OR2T2	401992	broad.mit.edu	37	1	248616317	248616317	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248616317C>A	ENST00000342927.3	+	1	241	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATACCATCTACATCTGTA	0.512																																							uc001iek.1		NA																	0				skin(1)	1						c.(217-219)ATC>ATA		olfactory receptor, family 2, subfamily T,							129.0	142.0	137.0					1																	248616317		2202	4281	6483	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616317C>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.219C>A	1.37:g.248616317C>A							p.I73I	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	219	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		73			Helical; Name=2; (Potential).		B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.219C>A	CCDS31116.1																																																																																				0.512	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		11	113	1	0	6.44725e-10	0.002299	8.56861e-10	11	113				
OR2T27	403239	broad.mit.edu	37	1	248813466	248813466	+	Silent	SNP	G	G	T	rs201891917		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248813466G>T	ENST00000344889.3	-	1	719	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGGAGCAGGTGGCCACAG	0.527																																							uc010pzo.1		NA																	0				skin(1)	1						c.(718-720)ACC>ACA		olfactory receptor, family 2, subfamily T,							47.0	32.0	37.0					1																	248813466		2185	4258	6443	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813466G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.720C>A	1.37:g.248813466G>T							p.T240T	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	720	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	240			Cytoplasmic (Potential).			Silent	SNP	ENST00000344889.3	37	c.720C>A	CCDS31124.1																																																																																				0.527	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		10	13	1	0	1.08611e-07	0.000978	1.35482e-07	10	13				
SFMBT2	57713	broad.mit.edu	37	10	7290516	7290516	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:7290516C>T	ENST00000361972.4	-	8	1056	c.966G>A	c.(964-966)gtG>gtA	p.V322V	SFMBT2_ENST00000397167.1_Silent_p.V322V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	322					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACCTTAGTCACCGACGCAG	0.493																																							uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(964-966)GTG>GTA		Scm-like with four mbt domains 2							116.0	93.0	101.0					10																	7290516		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7290516C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.966G>A	10.37:g.7290516C>T						SFMBT2_uc001ijn.1_Silent_p.V322V|SFMBT2_uc010qay.1_Silent_p.V322V	p.V322V	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			8	1057	-			322			MBT 3.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.966G>A	CCDS31138.1																																																																																				0.493	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		8	14	0	0	0	0.006214	0	8	14				
CACNB2	783	broad.mit.edu	37	10	18825057	18825057	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:18825057G>A	ENST00000324631.7	+	12	1294	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	CACNB2_ENST00000377328.1_Missense_Mutation_p.G162R|RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.G360R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.G358R|CACNB2_ENST00000282343.8_Missense_Mutation_p.G384R|CACNB2_ENST00000396576.2_Missense_Mutation_p.G357R|CACNB2_ENST00000377319.3_Missense_Mutation_p.G319R|CACNB2_ENST00000377315.4_Missense_Mutation_p.G364R|CACNB2_ENST00000352115.6_Missense_Mutation_p.G388R	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAATCTCGAGGGAAATCTCA	0.368																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1234-1236)GGG>AGG		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79.0	77.0	78.0					10																	18825057		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18825057G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1234G>A	10.37:g.18825057G>A	ENSP00000320025:p.Gly412Arg					CACNB2_uc009xjz.1_Missense_Mutation_p.G162R|CACNB2_uc001ips.2_Missense_Mutation_p.G388R|CACNB2_uc001ipt.2_Missense_Mutation_p.G374R|CACNB2_uc001ipu.2_Missense_Mutation_p.G384R|CACNB2_uc001ipv.2_Missense_Mutation_p.G360R|CACNB2_uc009xka.1_Missense_Mutation_p.G346R|CACNB2_uc001ipw.2_Missense_Mutation_p.G319R|CACNB2_uc001ipx.2_Missense_Mutation_p.G357R|CACNB2_uc001ipz.2_Missense_Mutation_p.G334R|CACNB2_uc001ipy.2_Missense_Mutation_p.G358R|CACNB2_uc010qco.1_Missense_Mutation_p.G326R|CACNB2_uc001iqa.2_Missense_Mutation_p.G364R|NSUN6_uc001iqb.2_Intron	p.G412R	NM_201596	NP_963890	Q08289	CACB2_HUMAN			12	1294	+			412					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1234G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290115	0.95546	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;T;D;D;D;D;D;D	0.87103	-2.21;-2.21;0.6;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	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	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95465	0.8546	10	0.87932	D	0	-20.5433	19.7059	0.96071	0.0:0.0:1.0:0.0	.	326;384;162;364;334;358;368;319;360;384;374;388;412	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	R	412;388;162;384;360;357;319;358;364	ENSP00000320025:G412R;ENSP00000344474:G388R;ENSP00000366545:G162R;ENSP00000282343:G384R;ENSP00000366548:G360R;ENSP00000379821:G357R;ENSP00000366536:G319R;ENSP00000366546:G358R;ENSP00000366532:G364R	ENSP00000282343:G384R	G	+	1	0	CACNB2	18865063	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.673000	0.90976	0.591000	0.81541	GGG		0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		8	15	0	0	0	0.004482	0	8	15				
GPR158	57512	broad.mit.edu	37	10	25887426	25887426	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:25887426C>A	ENST00000376351.3	+	11	3230	c.2871C>A	c.(2869-2871)gcC>gcA	p.A957A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	957					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGATCCTGCCCCCCAAAACT	0.443																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2869-2871)GCC>GCA		G protein-coupled receptor 158 precursor							89.0	101.0	97.0					10																	25887426		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887426C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2871C>A	10.37:g.25887426C>A						GPR158_uc001isk.2_Silent_p.A332A	p.A957A	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2931	+			957			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2871C>A	CCDS31166.1																																																																																				0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		28	32	1	0	2.61193e-14	0.009535	3.96464e-14	28	32				
MYO3A	53904	broad.mit.edu	37	10	26446271	26446271	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:26446271G>T	ENST00000265944.5	+	26	2992	c.2826G>T	c.(2824-2826)gtG>gtT	p.V942V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	942	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTAAAATGGTGGTGGGCCAAC	0.393																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2824-2826)GTG>GTT		myosin IIIA							147.0	142.0	143.0					10																	26446271		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446271G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2826G>T	10.37:g.26446271G>T						MYO3A_uc009xko.1_Silent_p.V942V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.V942V	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			26	3186	+			942			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2826G>T	CCDS7148.1																																																																																				0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		18	12	1	0	8.10497e-08	0.010504	1.01718e-07	18	12				
KIAA1462	57608	broad.mit.edu	37	10	30315157	30315157	+	Missense_Mutation	SNP	C	C	A	rs183791720		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:30315157C>A	ENST00000375377.1	-	3	4021	c.3920G>T	c.(3919-3921)aGt>aTt	p.S1307I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1307					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACGGTCCCCACTGCCAGGAGA	0.622																																							uc001iux.2		NA																	0				ovary(4)	4						c.(3919-3921)AGT>ATT		hypothetical protein LOC57608							77.0	76.0	76.0					10																	30315157		1952	4143	6095	SO:0001583	missense	57608							g.chr10:30315157C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3920G>T	10.37:g.30315157C>A	ENSP00000364526:p.Ser1307Ile					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S1169I|KIAA1462_uc009xle.1_Missense_Mutation_p.S1307I	p.S1307I	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3979	-			1307					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3920G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470052	0.26423	.	.	ENSG00000165757	ENST00000375377	T	0.11930	2.73	4.79	2.94	0.34122	.	0.982603	0.08339	N	0.961145	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36335	-0.9752	10	0.54805	T	0.06	-0.1502	4.2299	0.10597	0.1385:0.5828:0.1876:0.0911	.	1307	Q9P266	K1462_HUMAN	I	1307	ENSP00000364526:S1307I	ENSP00000364526:S1307I	S	-	2	0	KIAA1462	30355163	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.172000	0.31908	0.457000	0.26962	-0.253000	0.11424	AGT		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		21	44	1	0	2.89027e-11	0.002299	3.99594e-11	21	44				
ZNF33A	7581	broad.mit.edu	37	10	38305835	38305835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:38305835G>T	ENST00000458705.2	+	3	204	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	ZNF33A_ENST00000432900.2_Missense_Mutation_p.D23Y|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D16Y|ZNF33A_ENST00000469037.2_Missense_Mutation_p.D16Y|ZNF33A_ENST00000374618.3_Missense_Mutation_p.D16Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	16	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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATCATTTAAAGATGTGACTGT	0.453																																							uc001izh.2		NA																	0				ovary(2)|skin(1)	3						c.(46-48)GAT>TAT		zinc finger protein 33A isoform b							80.0	80.0	80.0					10																	38305835		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38305835G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.46G>T	10.37:g.38305835G>T	ENSP00000387713:p.Asp16Tyr					ZNF33A_uc001izg.2_Missense_Mutation_p.D16Y|ZNF33A_uc010qev.1_Missense_Mutation_p.D23Y|ZNF33A_uc001izi.1_Missense_Mutation_p.D16Y|ZNF33A_uc001izj.2_RNA	p.D16Y	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			3	224	+			16			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.46G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843745	0.51164	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	3.52	3.52	0.40303	Krueppel-associated box (4);	.	.	.	.	T	0.56366	0.1980	H	0.99712	4.72	0.30682	N	0.752238	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	T	0.69529	-0.5121	9	0.87932	D	0	.	10.7336	0.46111	0.0:0.0:1.0:0.0	.	23;16;16;16	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	Y	16;23;16;16;16	ENSP00000363747:D16Y;ENSP00000402467:D23Y;ENSP00000387713:D16Y;ENSP00000304268:D16Y	ENSP00000277672:D16Y	D	+	1	0	ZNF33A	38345841	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	4.339000	0.59322	1.981000	0.57761	0.313000	0.20887	GAT		0.453	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		30	21	1	0	8.88839e-20	0.002096	1.50612e-19	30	21				
CSGALNACT2	55454	broad.mit.edu	37	10	43651075	43651075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:43651075G>T	ENST00000374466.3	+	2	813	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	CSGALNACT2_ENST00000374464.1_Nonsense_Mutation_p.E160*	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	160					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTTCAATTGGAAATGGGTCT	0.408																																							uc001jan.2		NA																	0				ovary(1)	1						c.(478-480)GAA>TAA		chondroitin sulfate							92.0	92.0	92.0					10																	43651075		2203	4300	6503	SO:0001587	stop_gained	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43651075G>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.478G>T	10.37:g.43651075G>T	ENSP00000363590:p.Glu160*					CSGALNACT2_uc001jam.1_Nonsense_Mutation_p.E160*	p.E160*	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	813	+			160			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	c.478G>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	38	7.268763	0.98175	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.9151	20.0637	0.97700	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000363588:E160X	E	+	1	0	CSGALNACT2	42971081	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.434000	0.97515	2.751000	0.94390	0.650000	0.86243	GAA		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		21	58	1	0	9.95505e-16	0.002299	1.55696e-15	21	58				
OR13A1	79290	broad.mit.edu	37	10	45799695	45799695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:45799695C>A	ENST00000553795.1	-	4	484	c.176G>T	c.(175-177)gGt>gTt	p.G59V	OR13A1_ENST00000374401.2_Missense_Mutation_p.G59V|OR13A1_ENST00000536058.1_Missense_Mutation_p.G59V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAGGACATTACCTGTGAGGGC	0.502																																							uc001jcc.1		NA																	0					0						c.(175-177)GGT>GTT		olfactory receptor, family 13, subfamily A,							88.0	99.0	95.0					10																	45799695		2203	4300	6503	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799695C>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.176G>T	10.37:g.45799695C>A	ENSP00000451950:p.Gly59Val					OR13A1_uc001jcd.1_Missense_Mutation_p.G55V	p.G59V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	485	-			59			Helical; Name=1; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.176G>T	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	15.84	2.951127	0.53186	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.04406	3.63;3.63;3.63	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000684	T	0.25457	0.0619	M	0.92604	3.325	0.38894	D	0.957172	D	0.65815	0.995	D	0.63283	0.913	T	0.11743	-1.0575	10	0.87932	D	0	-55.9205	12.3248	0.55005	0.0:0.8294:0.1706:0.0	.	59	Q8NGR1	O13A1_HUMAN	V	59	ENSP00000451950:G59V;ENSP00000438657:G59V;ENSP00000363522:G59V	ENSP00000311379:G59V	G	-	2	0	OR13A1	45119701	0.886000	0.30341	0.943000	0.38184	0.868000	0.49771	3.627000	0.54252	2.560000	0.86352	0.650000	0.86243	GGT		0.502	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		11	30	1	0	2.27111e-07	0.001368	2.78718e-07	11	30				
NCOA4	8031	broad.mit.edu	37	10	51584853	51584853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:51584853G>C	ENST00000443446.1	+	8	1181	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	NCOA4_ENST00000452682.1_Missense_Mutation_p.E334Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E318Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E318Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E334Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E152Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E218Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E318Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	318					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCGGAAGCCTGAGAATGGCAG	0.453			T	RET	papillary thyroid																																		uc001jis.3		NA		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		0				central_nervous_system(1)|kidney(1)	2						c.(952-954)GAG>CAG		nuclear receptor coactivator 4 isoform 3							84.0	84.0	84.0					10																	51584853		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584853G>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.952G>C	10.37:g.51584853G>C	ENSP00000390713:p.Glu318Gln					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E334Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E334Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E218Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E152Q|NCOA4_uc001jit.2_Missense_Mutation_p.E318Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E318Q	p.E318Q	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	1155	+			318					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.952G>C	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.38|12.38	1.919399|1.919399	0.33908|0.33908	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45|.	6.03|6.03	4.2|4.2	0.49525|0.49525	.|.	0.709437|.	0.15140|.	N|.	0.278331|.	T|.	0.51415|.	0.1673|.	L|L	0.53249|0.53249	1.67|1.67	0.23232|0.23232	N|N	0.998078|0.998078	P;P;P;P|.	0.51147|.	0.942;0.901;0.942;0.81|.	P;P;P;P|.	0.47299|.	0.543;0.543;0.543;0.543|.	T|.	0.39901|.	-0.9591|.	9|.	.|.	.|.	.|.	0.0137|0.0137	12.6306|12.6306	0.56655|0.56655	0.1324:0.0:0.8676:0.0|0.1324:0.0:0.8676:0.0	.|.	218;334;334;318|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	Q|S	334;334;218;318;152;318;318;318|233	ENSP00000405146:E334Q;ENSP00000395465:E334Q;ENSP00000393053:E218Q;ENSP00000363200:E318Q;ENSP00000411018:E152Q;ENSP00000344552:E318Q;ENSP00000363195:E318Q;ENSP00000390713:E318Q|.	.|.	E|X	+|+	1|2	0|2	NCOA4|NCOA4	51254859|51254859	0.907000|0.907000	0.30839|0.30839	0.426000|0.426000	0.26672|0.26672	0.357000|0.357000	0.29423|0.29423	2.049000|2.049000	0.41288|0.41288	0.898000|0.898000	0.36418|0.36418	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		27	35	0	0	0	0.00632	0	27	35				
PCDH15	65217	broad.mit.edu	37	10	55587240	55587240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:55587240G>T	ENST00000320301.6	-	32	4674	c.4280C>A	c.(4279-4281)cCg>cAg	p.P1427Q	PCDH15_ENST00000409834.1_Missense_Mutation_p.P1038Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1427Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1402Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1356Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1427Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1387Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1429Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1434Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1424Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1434Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1427					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCAGGAGCCGGCACTGCTGG	0.572										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4279-4281)CCG>CAG		protocadherin 15 isoform CD1-4 precursor							61.0	67.0	65.0					10																	55587240		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587240G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4280C>A	10.37:g.55587240G>T	ENSP00000322604:p.Pro1427Gln	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P1432Q|PCDH15_uc010qhr.1_Missense_Mutation_p.P1427Q|PCDH15_uc010qhs.1_Missense_Mutation_p.P1439Q|PCDH15_uc010qht.1_Missense_Mutation_p.P1434Q|PCDH15_uc010qhu.1_Missense_Mutation_p.P1427Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1424Q|PCDH15_uc010qhw.1_Missense_Mutation_p.P1387Q|PCDH15_uc010qhx.1_Missense_Mutation_p.P1356Q|PCDH15_uc010qhy.1_Missense_Mutation_p.P1432Q|PCDH15_uc010qhz.1_Missense_Mutation_p.P1427Q|PCDH15_uc010qia.1_Missense_Mutation_p.P1405Q|PCDH15_uc010qib.1_Missense_Mutation_p.P1402Q	p.P1427Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			32	4675	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1427			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4280C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619305	0.66787	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;0.51	4.98	4.98	0.66077	.	.	.	.	.	T	0.67627	0.2913	N	0.14661	0.345	0.39632	D	0.970199	P;P;P;P;D;P;P;D;P;P;D;P;P	0.55172	0.643;0.771;0.771;0.771;0.97;0.771;0.643;0.959;0.598;0.598;0.959;0.928;0.771	B;B;B;B;P;B;B;P;B;B;P;P;B	0.57548	0.403;0.165;0.165;0.309;0.823;0.165;0.403;0.599;0.101;0.154;0.599;0.663;0.165	T	0.71374	-0.4612	9	0.51188	T	0.08	.	13.9305	0.63991	0.0:0.0:1.0:0.0	.	1402;1427;1427;1432;1356;1387;1424;1427;1434;1434;1427;1429;1427	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	1434;1429;1427;1427;1038;1434;1387;1427;1402;1427;1424;1432;1356	ENSP00000363076:P1434Q;ENSP00000410304:P1429Q;ENSP00000378826:P1427Q;ENSP00000386693:P1038Q;ENSP00000378832:P1434Q;ENSP00000378820:P1387Q;ENSP00000354950:P1427Q;ENSP00000378821:P1402Q;ENSP00000322604:P1427Q;ENSP00000378818:P1424Q;ENSP00000412628:P1356Q	ENSP00000322604:P1427Q	P	-	2	0	PCDH15	55257246	0.914000	0.31030	0.224000	0.23877	0.305000	0.27757	2.313000	0.43735	2.739000	0.93911	0.491000	0.48974	CCG		0.572	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		16	40	1	0	4.14922e-12	0.004007	5.89475e-12	16	40				
PCDH15	65217	broad.mit.edu	37	10	56138679	56138679	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:56138679G>T	ENST00000320301.6	-	4	575	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373955.1_Missense_Mutation_p.L61M|PCDH15_ENST00000361849.3_Missense_Mutation_p.L61M|PCDH15_ENST00000395433.1_Missense_Mutation_p.L39M|PCDH15_ENST00000437009.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395438.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373957.3_Missense_Mutation_p.L39M|PCDH15_ENST00000395446.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395432.2_Missense_Mutation_p.L61M|PCDH15_ENST00000414778.1_Missense_Mutation_p.L66M|PCDH15_ENST00000395440.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395445.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395430.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373965.2_Missense_Mutation_p.L61M	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTTGATCAGCATGTTGTCC	0.403										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(181-183)CTG>ATG		protocadherin 15 isoform CD1-4 precursor							155.0	158.0	157.0					10																	56138679		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138679G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.181C>A	10.37:g.56138679G>T	ENSP00000322604:p.Leu61Met	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.L66M|PCDH15_uc010qhr.1_Missense_Mutation_p.L61M|PCDH15_uc010qhs.1_Missense_Mutation_p.L66M|PCDH15_uc010qht.1_Missense_Mutation_p.L61M|PCDH15_uc010qhu.1_Missense_Mutation_p.L61M|PCDH15_uc001jjv.1_Missense_Mutation_p.L39M|PCDH15_uc010qhv.1_Missense_Mutation_p.L61M|PCDH15_uc010qhw.1_Missense_Mutation_p.L61M|PCDH15_uc010qhx.1_Missense_Mutation_p.L61M|PCDH15_uc010qhy.1_Missense_Mutation_p.L66M|PCDH15_uc010qhz.1_Missense_Mutation_p.L61M|PCDH15_uc010qia.1_Missense_Mutation_p.L39M|PCDH15_uc010qib.1_Missense_Mutation_p.L39M|PCDH15_uc001jjw.2_Missense_Mutation_p.L61M	p.L61M	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	576	-		Melanoma(3;0.117)|Lung SC(717;0.238)	61			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.181C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330446	0.60743	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.48;0.53;0.48;0.45;0.46;0.69;0.59;0.44;0.43;0.43;0.32;0.43;0.43;0.46;0.55;0.83	5.3	0.21	0.15231	.	.	.	.	.	T	0.58779	0.2146	N	0.24115	0.695	0.27082	N	0.963059	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.994;0.994;0.988;0.997;0.999;0.978;0.994;0.997;0.978;0.988;0.98;0.995;0.997	D;D;D;D;D;D;D;P;P;D;P;P;P;P;D	0.72982	0.979;0.921;0.921;0.921;0.921;0.921;0.979;0.862;0.885;0.921;0.862;0.862;0.891;0.845;0.921	T	0.53056	-0.8492	9	0.51188	T	0.08	.	9.4511	0.38727	0.4638:0.0:0.5362:0.0	.	39;61;61;66;61;61;61;61;61;61;61;66;61;39;61	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	M	61;66;61;61;61;61;61;61;61;61;39;39;61;61;66;61;61;61	ENSP00000363076:L61M;ENSP00000410304:L66M;ENSP00000378826:L61M;ENSP00000378832:L61M;ENSP00000378833:L61M;ENSP00000378829:L61M;ENSP00000378827:L61M;ENSP00000378820:L61M;ENSP00000354950:L61M;ENSP00000378821:L39M;ENSP00000363068:L39M;ENSP00000322604:L61M;ENSP00000378818:L61M;ENSP00000412628:L61M;ENSP00000363066:L61M;ENSP00000394465:L61M	ENSP00000322604:L61M	L	-	1	2	PCDH15	55808685	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.421000	0.44688	-0.002000	0.14469	-0.163000	0.13421	CTG		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		35	94	1	0	1.30998e-17	0.005524	2.13205e-17	35	94				
ANK3	288	broad.mit.edu	37	10	62038534	62038534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:62038534G>A	ENST00000280772.2	-	4	603	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q121*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q132*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	138					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCTTACCTGAGATTGTGCA	0.423																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(412-414)CAG>TAG		ankyrin 3 isoform 1							239.0	201.0	214.0					10																	62038534		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62038534G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.412C>T	10.37:g.62038534G>A	ENSP00000280772:p.Gln138*					ANK3_uc010qih.1_Nonsense_Mutation_p.Q121*|ANK3_uc001jkz.3_Nonsense_Mutation_p.Q132*|ANK3_uc001jlb.1_5'UTR	p.Q138*	NM_020987	NP_066267	Q12955	ANK3_HUMAN			4	604	-			138					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.412C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	38	7.273676	0.98179	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	.	.	.	5.41	5.41	0.78517	.	0.000000	0.40064	N	0.001198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.398	0.94614	0.0:0.0:1.0:0.0	.	.	.	.	X	138;132;121;100;112	.	ENSP00000280772:Q138X	Q	-	1	0	ANK3	61708540	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.569000	0.98170	2.826000	0.97356	0.561000	0.74099	CAG		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		30	92	0	0	0	0.002096	0	30	92				
ZNF365	22891	broad.mit.edu	37	10	64429973	64429973	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:64429973T>A	ENST00000395251.1	+	7	897	c.563T>A	c.(562-564)tTg>tAg	p.L188*	ZNF365_ENST00000395249.1_Nonsense_Mutation_p.L40*|ZNF365_ENST00000410046.3_Nonsense_Mutation_p.L434*	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	188										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGGCAAATTGACAATCATC	0.448																																							uc001jmd.1		NA																	0				ovary(1)|skin(1)	2						c.(562-564)TTG>TAG		zinc finger protein 365 isoform D							251.0	249.0	250.0					10																	64429973		2203	4300	6503	SO:0001587	stop_gained	22891							g.chr10:64429973T>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.563T>A	10.37:g.64429973T>A	ENSP00000378672:p.Leu188*					ZNF365_uc001jmc.2_Nonsense_Mutation_p.L434*|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_RNA	p.L188*	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			7	897	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		188						Nonsense_Mutation	SNP	ENST00000395251.1	37	c.563T>A	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079102	0.20227	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	.	.	.	2.97	-0.335	0.12662	.	.	.	.	.	.	.	.	.	.	.	0.46260	D	0.998956	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.4718	0.02418	0.1919:0.4433:0.1357:0.2291	.	.	.	.	X	434;188;40	.	ENSP00000378670:L40X	L	+	2	0	ZNF365	64099979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.912000	0.04046	-0.764000	0.04651	-3.953000	0.00015	TTG		0.448	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		61	138	0	0	0	0.00361	0	61	138				
JMJD1C	221037	broad.mit.edu	37	10	64967354	64967354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:64967354C>A	ENST00000399262.2	-	10	4293	c.4075G>T	c.(4075-4077)Gtg>Ttg	p.V1359L	JMJD1C_ENST00000399251.1_Missense_Mutation_p.V1140L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.V1177L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.V1140L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1359					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTGAATTCACATTTGGCAAA	0.418																																							uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(4075-4077)GTG>TTG		jumonji domain containing 1C isoform a							137.0	128.0	131.0					10																	64967354		1857	4107	5964	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967354C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4075G>T	10.37:g.64967354C>A	ENSP00000382204:p.Val1359Leu					JMJD1C_uc001jml.2_Missense_Mutation_p.V1140L|JMJD1C_uc001jmm.2_Missense_Mutation_p.V1071L|JMJD1C_uc010qiq.1_Missense_Mutation_p.V1177L|JMJD1C_uc009xpi.2_Missense_Mutation_p.V1177L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.V396L	p.V1359L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	4375	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1359					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4075G>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627597|1.627597	0.28978|0.28978	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.54866	.|0.89;0.55;2.52;0.89	5.94|5.94	0.269|0.269	0.15631|0.15631	.|.	.|0.987395	.|0.08288	.|N	.|0.968851	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30146	.|0.013;0.028;0.27	.|B;B;B	.|0.19946	.|0.007;0.01;0.027	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.25751	.|T	.|0.34	0.2403|0.2403	6.3742|6.3742	0.21499|0.21499	0.2161:0.5152:0.0:0.2687|0.2161:0.5152:0.0:0.2687	.|.	.|900;1359;1177	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	I|L	44|1359;1140;1140;1177	.|ENSP00000382204:V1359L;ENSP00000384990:V1140L;ENSP00000382195:V1140L;ENSP00000444682:V1177L	.|ENSP00000382195:V1140L	M|V	-|-	3|1	0|0	JMJD1C|JMJD1C	64637360|64637360	0.991000|0.991000	0.36638|0.36638	0.990000|0.990000	0.47175|0.47175	0.983000|0.983000	0.72400|0.72400	0.271000|0.271000	0.18626|0.18626	0.121000|0.121000	0.18284|0.18284	0.591000|0.591000	0.81541|0.81541	ATG|GTG		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		24	82	1	0	1.10513e-12	0.002299	1.5952e-12	24	82				
LRRTM3	347731	broad.mit.edu	37	10	68686853	68686853	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:68686853C>G	ENST00000361320.4	+	2	757	c.179C>G	c.(178-180)tCt>tGt	p.S60C	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	60	LRRNT.				positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCAAGTATATCTGCTGGTTGC	0.428																																							uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(178-180)TCT>TGT		leucine rich repeat transmembrane neuronal 3							124.0	128.0	127.0					10																	68686853		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686853C>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.179C>G	10.37:g.68686853C>G	ENSP00000355187:p.Ser60Cys					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S60C	p.S60C	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	729	+			60			Extracellular (Potential).|LRRNT.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.179C>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003678	0.54254	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04275	3.66	5.53	5.53	0.82687	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.23451	0.0567	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.00144	-1.1994	10	0.51188	T	0.08	.	18.2412	0.89968	0.0:1.0:0.0:0.0	.	60;60	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	C	60	ENSP00000355187:S60C	ENSP00000355187:S60C	S	+	2	0	LRRTM3	68356859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.613000	0.88420	0.655000	0.94253	TCT		0.428	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		18	43	0	0	0	0.007413	0	18	43				
ADAMTS14	140766	broad.mit.edu	37	10	72511358	72511358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:72511358G>A	ENST00000373207.1	+	17	2552	c.2552G>A	c.(2551-2553)tGg>tAg	p.W851*	ADAMTS14_ENST00000373208.1_Nonsense_Mutation_p.W854*	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	851	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCTATGAGTGGGCGCTCAAG	0.622																																							uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(2551-2553)TGG>TAG		ADAM metallopeptidase with thrombospondin type 1							61.0	63.0	62.0					10																	72511358		2203	4300	6503	SO:0001587	stop_gained	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511358G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2552G>A	10.37:g.72511358G>A	ENSP00000362303:p.Trp851*					ADAMTS14_uc001jrg.2_Nonsense_Mutation_p.W854*	p.W851*	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			17	2552	+			851			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Nonsense_Mutation	SNP	ENST00000373207.1	37	c.2552G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	39	7.901355	0.98551	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.753	0.85492	0.0:0.0:1.0:0.0	.	.	.	.	X	854;851	.	ENSP00000362303:W851X	W	+	2	0	ADAMTS14	72181364	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.150000	0.94667	2.280000	0.76307	0.563000	0.77884	TGG		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		13	27	0	0	0	0.001855	0	13	27				
KAT6B	23522	broad.mit.edu	37	10	76736061	76736061	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:76736061G>A	ENST00000287239.4	+	8	2455	c.1966G>A	c.(1966-1968)Gga>Aga	p.G656R	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	656	Negatively regulates HAT activity.				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)										CTTGACAGACGGAAGGATTAA	0.478																																							uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(1966-1968)GGA>AGA		MYST histone acetyltransferase (monocytic							40.0	43.0	42.0					10																	76736061		1974	4132	6106	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.chr10:76736061G>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.1966G>A	10.37:g.76736061G>A	ENSP00000287239:p.Gly656Arg					MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	p.G656R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			8	2459	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		656			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1966G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689577	0.48097	.	.	ENSG00000156650	ENST00000287239	T	0.78364	-1.17	6.05	6.05	0.98169	.	0.373829	0.20030	N	0.100736	T	0.82263	0.4999	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79347	-0.1841	9	.	.	.	-2.3631	18.8256	0.92117	0.0:0.0:1.0:0.0	.	656	Q8WYB5	KAT6B_HUMAN	R	656	ENSP00000287239:G656R	.	G	+	1	0	KAT6B	76406067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.060000	0.93907	2.886000	0.99085	0.650000	0.86243	GGA		0.478	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	42	0	0	0	0.009096	0	3	42				
DYDC2	84332	broad.mit.edu	37	10	82122242	82122242	+	Missense_Mutation	SNP	G	G	T	rs372178733		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:82122242G>T	ENST00000372199.1	+	4	641	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	DYDC2_ENST00000372198.1_Missense_Mutation_p.A29S|DYDC2_ENST00000372197.1_Missense_Mutation_p.A15S|DYDC2_ENST00000256039.2_Missense_Mutation_p.A15S|DYDC2_ENST00000444807.2_Missense_Mutation_p.A15S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	15										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			AAATTGCCTGGCCCAGGCACT	0.453																																							uc001kca.1		NA																	0					0						c.(43-45)GCC>TCC		DPY30 domain containing 2							75.0	78.0	77.0					10																	82122242		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82122242G>T	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.43G>T	10.37:g.82122242G>T	ENSP00000361273:p.Ala15Ser					DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.A15S	p.A15S	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		3	423	+			15					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.43G>T	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045573	0.19748	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	T;T;T;T;T	0.45276	0.91;0.9;0.91;0.91;0.91	5.52	-4.11	0.03928	Dpy-30 motif (1);	1.228190	0.05748	N	0.602507	T	0.20007	0.0481	N	0.05510	-0.035	0.21290	N	0.999736	B	0.20261	0.043	B	0.21708	0.036	T	0.21280	-1.0250	10	0.20046	T	0.44	1.2249	6.7623	0.23548	0.6146:0.0:0.256:0.1294	.	15	Q96IM9	DYDC2_HUMAN	S	15;29;15;15;15;15	ENSP00000361273:A15S;ENSP00000361272:A29S;ENSP00000361271:A15S;ENSP00000410285:A15S;ENSP00000256039:A15S	ENSP00000256039:A15S	A	+	1	0	DYDC2	82112222	0.994000	0.37717	0.678000	0.29963	0.825000	0.46686	0.516000	0.22817	-1.072000	0.03141	-0.793000	0.03317	GCC		0.453	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		13	28	1	0	2.27111e-07	0.001368	2.78718e-07	13	28				
GRID1	2894	broad.mit.edu	37	10	87487652	87487652	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:87487652T>G	ENST00000327946.7	-	10	1578	c.1493A>C	c.(1492-1494)aAc>aCc	p.N498T	GRID1_ENST00000536331.1_Missense_Mutation_p.N69T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	498					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCAGGAGGTGTTATGGAGCTG	0.552										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1492-1494)AAC>ACC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						126.0	117.0	120.0					10																	87487652		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487652T>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1493A>C	10.37:g.87487652T>G	ENSP00000330148:p.Asn498Thr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.N69T	p.N498T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1594	-			498			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1493A>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337538	0.81911	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.25912	1.77;1.77	5.66	5.66	0.87406	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.35288	1.05	0.80722	D	1	P	0.41420	0.749	P	0.45753	0.492	T	0.02444	-1.1158	10	0.19590	T	0.45	.	15.1143	0.72388	0.0:0.0:0.0:1.0	.	498	Q9ULK0	GRID1_HUMAN	T	498;69	ENSP00000330148:N498T;ENSP00000444455:N69T	ENSP00000330148:N498T	N	-	2	0	GRID1	87477632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.023000	0.88764	2.167000	0.68274	0.487000	0.48397	AAC		0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		11	63	0	0	0	0.008291	0	11	63				
MMRN2	79812	broad.mit.edu	37	10	88702981	88702981	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:88702981C>A	ENST00000372027.5	-	6	1881	c.1560G>T	c.(1558-1560)gtG>gtT	p.V520V	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	520					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGTCCAGGCTCACCTGGGTCT	0.667																																							uc001kea.2		NA																	0				large_intestine(1)	1						c.(1558-1560)GTG>GTT		multimerin 2 precursor							33.0	30.0	31.0					10																	88702981		2201	4299	6500	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702981C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1560G>T	10.37:g.88702981C>A						MMRN2_uc010qmn.1_Silent_p.V163V|MMRN2_uc009xtb.2_Silent_p.V477V	p.V520V	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	1687	-			520					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.1560G>T	CCDS7379.1																																																																																				0.667	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		11	23	1	0	1.58986e-06	0.008291	1.8947e-06	11	23				
IFIT1B	439996	broad.mit.edu	37	10	91143527	91143527	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:91143527G>A	ENST00000371809.3	+	2	537	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	153										endometrium(2)|large_intestine(3)|lung(8)	13						GGCGAAGTGTGGTGGAAAGAA	0.493																																							uc001kgh.2		NA																	0					0						c.(457-459)GGA>AGA		interferon-induced protein with							84.0	85.0	85.0					10																	91143527		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143527G>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.457G>A	10.37:g.91143527G>A	ENSP00000360874:p.Gly153Ser					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.G153R	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	537	+			153			TPR 3.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.457G>A	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425787	0.62733	.	.	ENSG00000204010	ENST00000371809	T	0.73363	-0.74	4.43	3.51	0.40186	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.286130	0.32819	U	0.005605	T	0.80259	0.4590	M	0.63843	1.955	0.38493	D	0.948038	D	0.76494	0.999	D	0.83275	0.996	T	0.78645	-0.2123	10	0.30854	T	0.27	.	7.1081	0.25374	0.0904:0.0:0.7437:0.166	.	153	Q5T764	IFT1B_HUMAN	S	153	ENSP00000360874:G153S	ENSP00000360874:G153S	G	+	1	0	IFIT1B	91133507	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	3.235000	0.51328	1.993000	0.58246	0.557000	0.71058	GGT		0.493	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		20	39	0	0	0	0.001882	0	20	39				
IFIT1B	439996	broad.mit.edu	37	10	91143649	91143649	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:91143649A>G	ENST00000371809.3	+	2	659	c.579A>G	c.(577-579)acA>acG	p.T193T	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	193										endometrium(2)|large_intestine(3)|lung(8)	13						AATTTAACACAGCATCAGGGA	0.458																																							uc001kgh.2		NA																	0					0						c.(577-579)ACA>ACG		interferon-induced protein with							237.0	245.0	243.0					10																	91143649		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91143649A>G		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.579A>G	10.37:g.91143649A>G						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.T193T	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	659	+			193			TPR 4.		A7E245	Silent	SNP	ENST00000371809.3	37	c.579A>G	CCDS31242.1																																																																																				0.458	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		64	157	0	0	0	0.00361	0	64	157				
TM9SF3	56889	broad.mit.edu	37	10	98307744	98307744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:98307744C>A	ENST00000371142.4	-	8	1178	c.962G>T	c.(961-963)aGg>aTg	p.R321M	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	321						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATTGATCCCCTCCTAAAAAG	0.318																																							uc001kmm.3		NA																	0					0						c.(961-963)AGG>ATG		transmembrane 9 superfamily member 3 precursor							97.0	95.0	96.0					10																	98307744		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98307744C>A	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.962G>T	10.37:g.98307744C>A	ENSP00000360184:p.Arg321Met					TM9SF3_uc010qot.1_Missense_Mutation_p.R321M|TM9SF3_uc001kmn.1_Missense_Mutation_p.R90M	p.R321M	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	8	1179	-		Colorectal(252;0.158)	321					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.962G>T	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827586	0.90955	.	.	ENSG00000077147	ENST00000371142	T	0.60797	0.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97516	4.02	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.71870	0.964;0.975	D	0.89609	0.3840	10	0.72032	D	0.01	-12.0009	19.0919	0.93229	0.0:1.0:0.0:0.0	.	253;321	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	M	321	ENSP00000360184:R321M	ENSP00000360184:R321M	R	-	2	0	TM9SF3	98297734	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.720000	0.84759	2.826000	0.97356	0.655000	0.94253	AGG		0.318	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		17	37	1	0	0.006122	0.006122	0.00644375	17	37				
PIK3AP1	118788	broad.mit.edu	37	10	98411027	98411027	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:98411027C>T	ENST00000339364.5	-	6	1085	c.966G>A	c.(964-966)ctG>ctA	p.L322L	PIK3AP1_ENST00000371110.2_Silent_p.L144L|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	322					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCTTCTTCCAGCTGGTTGA	0.468																																							uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(964-966)CTG>CTA		phosphoinositide-3-kinase adaptor protein 1							174.0	170.0	171.0					10																	98411027		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98411027C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.966G>A	10.37:g.98411027C>T						PIK3AP1_uc001kmp.2_Silent_p.L144L	p.L322L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	6	1094	-		Colorectal(252;0.0442)	322					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.966G>A	CCDS31259.1																																																																																				0.468	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		13	23	0	0	0	0.004007	0	13	23				
ARHGAP19	84986	broad.mit.edu	37	10	99016090	99016090	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:99016090G>A	ENST00000358531.4	-	6	940	c.912C>T	c.(910-912)tcC>tcT	p.S304S	ARHGAP19_ENST00000487035.1_Intron|ARHGAP19_ENST00000371027.1_Silent_p.S295S|ARHGAP19_ENST00000355366.5_Silent_p.S295S|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.S304S|ARHGAP19-SLIT1_ENST00000358308.3_Intron|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S304S	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	304	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AAAGTTTCTGGGAGTGTTTAA	0.393																																							uc001knb.2		NA																	0					0						c.(910-912)TCC>TCT		Rho GTPase activating protein 19							177.0	187.0	183.0					10																	99016090		2203	4300	6503	SO:0001819	synonymous_variant	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99016090G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.912C>T	10.37:g.99016090G>A						ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Silent_p.S295S|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Intron|ARHGAP19_uc009xvk.2_Silent_p.S98S	p.S304S	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	6	941	-		Colorectal(252;0.0854)	304			Rho-GAP.		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Silent	SNP	ENST00000358531.4	37	c.912C>T	CCDS7454.2																																																																																				0.393	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		5	142	0	0	0	0.001984	0	5	142				
BTRC	8945	broad.mit.edu	37	10	103221745	103221745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103221745C>A	ENST00000370187.3	+	3	282	c.164C>A	c.(163-165)tCa>tAa	p.S55*	BTRC_ENST00000408038.2_Nonsense_Mutation_p.S19*|BTRC_ENST00000393441.4_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAGAATTCCTCAGAGAGAGAA	0.328																																							uc001kta.2		NA																	0				ovary(1)	1						c.(163-165)TCA>TAA		beta-transducin repeat containing protein							85.0	90.0	88.0					10																	103221745		2203	4300	6503	SO:0001587	stop_gained	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103221745C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.164C>A	10.37:g.103221745C>A	ENSP00000359206:p.Ser55*					BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Nonsense_Mutation_p.S19*|BTRC_uc001ktc.2_Intron	p.S55*	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	3	277	+		Colorectal(252;0.234)	55					B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	c.164C>A	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179265	0.94846	.	.	ENSG00000166167	ENST00000370187;ENST00000408038;ENST00000370183	.	.	.	6.03	6.03	0.97812	.	0.119212	0.38436	N	0.001681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6841	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	55;19;37	.	ENSP00000359202:S37X	S	+	2	0	BTRC	103211735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.861000	0.98227	0.655000	0.94253	TCA		0.328	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		12	47	1	0	0.00185496	0.001855	0.0019917	12	47				
C10orf76	79591	broad.mit.edu	37	10	103773745	103773745	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103773745C>G	ENST00000370033.4	-	9	825	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	236						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCTCATCATCCACGATAGAC	0.378																																							uc009xwy.1		NA																	0					0						c.(706-708)GAT>CAT		hypothetical protein LOC79591							195.0	183.0	187.0					10																	103773745		1940	4141	6081	SO:0001583	missense	79591					integral to membrane		g.chr10:103773745C>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.706G>C	10.37:g.103773745C>G	ENSP00000359050:p.Asp236His						p.D236H	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	9	808	-		Colorectal(252;0.123)	236					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.706G>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099866	0.76983	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.66939	2.045	0.80722	D	1	P	0.45569	0.861	P	0.48598	0.583	T	0.68861	-0.5297	9	0.37606	T	0.19	-16.6802	17.0116	0.86408	0.0:1.0:0.0:0.0	.	236	Q5T2E6	CJ076_HUMAN	H	236	.	ENSP00000359050:D236H	D	-	1	0	C10orf76	103763735	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.984000	0.76186	2.454000	0.82982	0.655000	0.94253	GAT		0.378	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		31	47	0	0	0	0.002445	0	31	47				
PPRC1	23082	broad.mit.edu	37	10	103898426	103898426	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103898426G>T	ENST00000278070.2	+	3	432	c.393G>T	c.(391-393)ctG>ctT	p.L131L	PPRC1_ENST00000413464.2_Silent_p.L131L|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCACGGCTCTGACGGAGATCT	0.512																																							uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(391-393)CTG>CTT		peroxisome proliferator-activated receptor							113.0	102.0	105.0					10																	103898426		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898426G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.393G>T	10.37:g.103898426G>T						PPRC1_uc001kun.2_Intron|PPRC1_uc010qqj.1_Silent_p.L131L|PPRC1_uc009xxa.2_5'Flank	p.L131L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	432	+		Colorectal(252;0.122)	131					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.393G>T	CCDS7529.1																																																																																				0.512	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		18	31	1	0	1.99824e-07	0.00499	2.46911e-07	18	31				
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:106074637G>T	ENST00000337478.1	-	2	1344	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.F391L|ITPRIP_ENST00000278071.2_Missense_Mutation_p.F391L	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	391						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCGTCCTGAGGAAGTGTCGCT	0.617																																							uc001kye.2		NA																	0					0						c.(1171-1173)TTC>TTA		inositol 1,4,5-triphosphate receptor interacting							39.0	40.0	39.0					10																	106074637		2202	4299	6501	SO:0001583	missense	85450					plasma membrane		g.chr10:106074637G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1173C>A	10.37:g.106074637G>T	ENSP00000337178:p.Phe391Leu					ITPRIP_uc001kyf.2_Missense_Mutation_p.F391L|ITPRIP_uc001kyg.2_Missense_Mutation_p.F391L	p.F391L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	1246	-			391					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1173C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	3.372	-0.128269	0.06753	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.03831	3.79;3.79;3.79	4.89	3.97	0.46021	.	0.056787	0.64402	D	0.000001	T	0.04318	0.0119	L	0.31752	0.955	0.31313	N	0.686927	B	0.28667	0.219	B	0.30251	0.113	T	0.15263	-1.0443	10	0.10636	T	0.68	-31.4643	14.0708	0.64858	0.0775:0.0:0.9225:0.0	.	391	Q8IWB1	IPRI_HUMAN	L	391	ENSP00000337178:F391L;ENSP00000278071:F391L;ENSP00000350915:F391L	ENSP00000278071:F391L	F	-	3	2	ITPRIP	106064627	1.000000	0.71417	0.998000	0.56505	0.167000	0.22549	3.737000	0.55060	2.413000	0.81919	0.462000	0.41574	TTC		0.617	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		15	23	1	0	2.48551e-13	0.00499	3.65724e-13	15	23				
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T	rs202092284		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2494-2496)CGG>CTG		VPS10 domain receptor protein SORCS 3 precursor							53.0	47.0	49.0					10																	106974319		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974319G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2495G>T	10.37:g.106974319G>T	ENSP00000358715:p.Arg832Leu					SORCS3_uc010qqz.1_RNA	p.R832L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2722	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	832			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2495G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.994917	0.74703	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.61158	0.13;0.13	5.89	4.99	0.66335	PKD domain (2);	0.202216	0.44097	D	0.000490	T	0.36880	0.0983	N	0.08118	0	0.38235	D	0.94115	B	0.33964	0.434	B	0.39738	0.308	T	0.34054	-0.9844	9	.	.	.	.	7.1795	0.25763	0.2805:0.0:0.7195:0.0	.	832	Q9UPU3	SORC3_HUMAN	L	832;118	ENSP00000358715:R832L;ENSP00000358713:R118L	.	R	+	2	0	SORCS3	106964309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.233000	0.78125	1.500000	0.48636	0.558000	0.71614	CGG		0.582	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	19	1	0	1.12685e-05	0.004482	1.30516e-05	9	19				
SORCS1	114815	broad.mit.edu	37	10	108339226	108339226	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108339226A>G	ENST00000263054.6	-	25	3279	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SORCS1_ENST00000369698.1_Missense_Mutation_p.L626P|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1091P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1091					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAGGTCCACCAGGGGGGCTTG	0.517																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3271-3273)CTG>CCG		SORCS receptor 1 isoform a							66.0	56.0	59.0					10																	108339226		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108339226A>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3272T>C	10.37:g.108339226A>G	ENSP00000263054:p.Leu1091Pro					SORCS1_uc001kyl.2_Missense_Mutation_p.L1091P|SORCS1_uc009xxs.2_Missense_Mutation_p.L1091P|SORCS1_uc001kyn.1_Missense_Mutation_p.L1091P|SORCS1_uc001kyo.2_Missense_Mutation_p.L1091P	p.L1091P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	25	3280	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1091			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3272T>C	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.43|16.43	3.120537|3.120537	0.56613|0.56613	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.26067|.	1.76;2.33;2.32|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.62134|0.62134	0.2403|0.2403	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.993;0.997;0.997;0.993;0.997|.	T|T	0.58624|0.58624	-0.7604|-0.7604	9|5	.|.	.|.	.|.	-13.0661|-13.0661	16.1136|16.1136	0.81283|0.81283	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1091;1091;1091;1091;1091|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	P|R	626;1091;1091|106	ENSP00000358712:L626P;ENSP00000263054:L1091P;ENSP00000345964:L1091P|.	.|.	L|W	-|-	2|1	0|0	SORCS1|SORCS1	108329216|108329216	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.465000|0.465000	0.32709|0.32709	6.977000|6.977000	0.76141|0.76141	2.266000|2.266000	0.75297|0.75297	0.455000|0.455000	0.32223|0.32223	CTG|TGG		0.517	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		6	22	0	0	0	0.00308	0	6	22				
SORCS1	114815	broad.mit.edu	37	10	108339228	108339228	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108339228G>T	ENST00000263054.6	-	25	3277	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	SORCS1_ENST00000369698.1_Silent_p.P625P|SORCS1_ENST00000344440.6_Silent_p.P1090P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1090					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTCCACCAGGGGGGCTTGTG	0.512																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3268-3270)CCC>CCA		SORCS receptor 1 isoform a							64.0	55.0	58.0					10																	108339228		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108339228G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3270C>A	10.37:g.108339228G>T						SORCS1_uc001kyl.2_Silent_p.P1090P|SORCS1_uc009xxs.2_Silent_p.P1090P|SORCS1_uc001kyn.1_Silent_p.P1090P|SORCS1_uc001kyo.2_Silent_p.P1090P	p.P1090P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	25	3278	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1090			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.3270C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105955	0.01828	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.62	-11.2	0.00127	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58719	-0.7587	5	.	.	.	-14.6447	5.7269	0.18018	0.1322:0.4136:0.292:0.1622	.	.	.	.	H	105	.	.	P	-	2	0	SORCS1	108329218	0.000000	0.05858	0.192000	0.23308	0.227000	0.25037	-4.847000	0.00178	-2.406000	0.00574	-0.319000	0.08680	CCC		0.512	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		6	21	1	0	0.00307968	0.00308	0.003275	6	21				
SORCS1	114815	broad.mit.edu	37	10	108427524	108427524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108427524G>T	ENST00000263054.6	-	17	2233	c.2226C>A	c.(2224-2226)tgC>tgA	p.C742*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.C277*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.C742*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	742					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.C742*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCCGGCAGGCACTGGCCAT	0.458																																							uc001kym.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(2224-2226)TGC>TGA		SORCS receptor 1 isoform a							72.0	65.0	67.0					10																	108427524		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427524G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2226C>A	10.37:g.108427524G>T	ENSP00000263054:p.Cys742*					SORCS1_uc001kyl.2_Nonsense_Mutation_p.C742*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.C742*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.C742*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.C742*	p.C742*	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2234	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	742			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.2226C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	38	6.791826	0.97841	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.49	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.2238	8.5597	0.33503	0.3073:0.0:0.6927:0.0	.	.	.	.	X	277;742;742	.	.	C	-	3	2	SORCS1	108417514	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.468000	0.35332	0.757000	0.33036	-0.379000	0.06801	TGC		0.458	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	18	1	0	0.00621372	0.006214	0.00653551	8	18				
SORCS1	114815	broad.mit.edu	37	10	108466379	108466379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108466379C>A	ENST00000263054.6	-	8	1164	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G386V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	386					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGTGGCCGCCCTCCTGATGT	0.468																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1156-1158)GGG>GTG		SORCS receptor 1 isoform a							134.0	116.0	122.0					10																	108466379		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108466379C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1157G>T	10.37:g.108466379C>A	ENSP00000263054:p.Gly386Val					SORCS1_uc001kyl.2_Missense_Mutation_p.G386V|SORCS1_uc009xxs.2_Missense_Mutation_p.G386V|SORCS1_uc001kyn.1_Missense_Mutation_p.G386V|SORCS1_uc001kyo.2_Missense_Mutation_p.G386V	p.G386V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	8	1165	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	386			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1157G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460680	0.84317	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.38077	1.16;1.16	5.64	5.64	0.86602	VPS10 (1);	0.130517	0.50627	D	0.000102	T	0.61961	0.2389	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.59674	-0.7410	9	.	.	.	-15.4079	19.7013	0.96054	0.0:1.0:0.0:0.0	.	386;386;386;386;386	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	386	ENSP00000263054:G386V;ENSP00000345964:G386V	.	G	-	2	0	SORCS1	108456369	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.567000	0.67378	2.657000	0.90304	0.655000	0.94253	GGG		0.468	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	46	1	0	1.6384e-10	0.001984	2.21422e-10	7	46				
DUSP5	1847	broad.mit.edu	37	10	112269834	112269834	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:112269834C>T	ENST00000369583.3	+	4	1089	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	269	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TGGGATCTCCCGTTCACCCAC	0.537																																							uc001kzd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(805-807)CGT>TGT		dual specificity phosphatase 5							78.0	69.0	72.0					10																	112269834		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112269834C>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.805C>T	10.37:g.112269834C>T	ENSP00000358596:p.Arg269Cys						p.R269C	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	4	1060	+		Breast(234;0.0848)	269			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.805C>T	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306595	0.60305	.	.	ENSG00000138166	ENST00000369583	D	0.98381	-4.9	5.86	5.86	0.93980	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.99881	4.885	0.80722	D	1	P	0.35944	0.529	B	0.34779	0.189	D	0.98314	1.0525	10	0.87932	D	0	.	14.0536	0.64754	0.1506:0.8494:0.0:0.0	.	269	Q16690	DUS5_HUMAN	C	269	ENSP00000358596:R269C	ENSP00000358596:R269C	R	+	1	0	DUSP5	112259824	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.853000	0.55941	2.778000	0.95560	0.655000	0.94253	CGT		0.537	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		9	38	0	0	0	0.004482	0	9	38				
NHLRC2	374354	broad.mit.edu	37	10	115668189	115668189	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:115668189A>T	ENST00000369301.3	+	11	2287	c.2075A>T	c.(2074-2076)gAc>gTc	p.D692V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	692										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TGTAGTGCAGACAGCAGTGCT	0.393																																							uc001lax.1		NA																	0				ovary(1)	1						c.(2074-2076)GAC>GTC		NHL repeat containing 2							166.0	147.0	153.0					10																	115668189		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115668189A>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.2075A>T	10.37:g.115668189A>T	ENSP00000358307:p.Asp692Val					NHLRC2_uc001lay.1_RNA	p.D692V	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	11	2287	+			692					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.2075A>T	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698464	0.48307	.	.	ENSG00000196865	ENST00000369301	T	0.47528	0.84	5.68	5.68	0.88126	.	0.278433	0.37715	N	0.001979	T	0.31606	0.0802	L	0.29908	0.895	0.54753	D	0.999984	P	0.40144	0.704	B	0.30251	0.113	T	0.28138	-1.0053	10	0.87932	D	0	-19.81	10.4941	0.44766	0.9246:0.0:0.0754:0.0	.	692	Q8NBF2	NHLC2_HUMAN	V	692	ENSP00000358307:D692V	ENSP00000358307:D692V	D	+	2	0	NHLRC2	115658179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.495000	0.53280	2.171000	0.68590	0.482000	0.46254	GAC		0.393	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		91	60	0	0	0	0.00361	0	91	60				
TRUB1	142940	broad.mit.edu	37	10	116719515	116719515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:116719515G>T	ENST00000298746.3	+	4	533	c.472G>T	c.(472-474)Gct>Tct	p.A158S	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	158					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACTGGGGAAAGCTACTGATAC	0.413																																							uc001lcd.2		NA																	0					0						c.(472-474)GCT>TCT		TruB pseudouridine (psi) synthase homolog 1							93.0	90.0	91.0					10																	116719515		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116719515G>T	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.472G>T	10.37:g.116719515G>T	ENSP00000298746:p.Ala158Ser					TRUB1_uc010qsl.1_Missense_Mutation_p.A60S	p.A158S	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	4	533	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	158					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.472G>T	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841202	0.71488	.	.	ENSG00000165832	ENST00000298746	T	0.50813	0.73	5.79	5.79	0.91817	Pseudouridine synthase, catalytic domain (1);	0.049617	0.85682	D	0.000000	T	0.42063	0.1186	N	0.21545	0.675	0.49687	D	0.99981	B	0.25486	0.127	B	0.37989	0.262	T	0.22068	-1.0227	10	0.19590	T	0.45	-14.9557	16.9567	0.86261	0.0:0.0:1.0:0.0	.	158	Q8WWH5	TRUB1_HUMAN	S	158	ENSP00000298746:A158S	ENSP00000298746:A158S	A	+	1	0	TRUB1	116709505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.375000	0.73137	2.733000	0.93635	0.655000	0.94253	GCT		0.413	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		57	23	1	0	7.10663e-31	0.00361	1.324e-30	57	23				
PNLIPRP3	119548	broad.mit.edu	37	10	118220478	118220478	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118220478G>T	ENST00000369230.3	+	6	712	c.566G>T	c.(565-567)gGg>gTg	p.G189V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	189					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTCTCTAGGGTTGGACCCA	0.423																																							uc001lcl.3		NA																	0				ovary(1)	1						c.(565-567)GGG>GTG		pancreatic lipase-related protein 3 precursor							104.0	97.0	99.0					10																	118220478		2203	4300	6503	SO:0001630	splice_region_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220478G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.566-1G>T	10.37:g.118220478G>T							p.G189V	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	6	667	+			189						Missense_Mutation	SNP	ENST00000369230.3	37	c.566G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367469	0.95900	.	.	ENSG00000203837	ENST00000369230	D	0.92965	-3.14	4.93	4.93	0.64822	Lipase, N-terminal (1);	0.106801	0.39146	N	0.001453	D	0.97396	0.9148	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98521	1.0623	9	.	.	.	.	18.318	0.90227	0.0:0.0:1.0:0.0	.	189	Q17RR3	LIPR3_HUMAN	V	189	ENSP00000358232:G189V	.	G	+	2	0	PNLIPRP3	118210468	1.000000	0.71417	0.882000	0.34594	0.939000	0.58152	6.158000	0.71851	2.561000	0.86390	0.591000	0.81541	GGG		0.423	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	Missense_Mutation	14	29	1	0	1.5842e-08	0.001855	2.03602e-08	14	29				
PNLIPRP3	119548	broad.mit.edu	37	10	118231387	118231387	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118231387G>T	ENST00000369230.3	+	10	1314	c.1168G>T	c.(1168-1170)Gtc>Ttc	p.V390F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	390	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTTTGCCATTGTCAGGTAGGC	0.483																																							uc001lcl.3		NA																	0				ovary(1)	1						c.(1168-1170)GTC>TTC		pancreatic lipase-related protein 3 precursor							110.0	115.0	114.0					10																	118231387		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231387G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1168G>T	10.37:g.118231387G>T	ENSP00000358232:p.Val390Phe						p.V390F	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1269	+			390			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1168G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	0.428	-0.904811	0.02453	.	.	ENSG00000203837	ENST00000369230	T	0.63255	-0.03	4.18	2.26	0.28386	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.944666	0.08660	N	0.912656	T	0.28797	0.0714	N	0.02158	-0.66	0.20563	N	0.999884	B	0.02656	0.0	B	0.06405	0.002	T	0.26916	-1.0089	10	0.02654	T	1	.	6.3937	0.21601	0.0984:0.0:0.7205:0.1811	.	390	Q17RR3	LIPR3_HUMAN	F	390	ENSP00000358232:V390F	ENSP00000358232:V390F	V	+	1	0	PNLIPRP3	118221377	0.001000	0.12720	0.206000	0.23566	0.087000	0.18053	-0.125000	0.10579	0.466000	0.27193	0.591000	0.81541	GTC		0.483	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	25	1	0	1.15088e-07	0.004007	1.43066e-07	8	25				
PNLIP	5406	broad.mit.edu	37	10	118306841	118306841	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118306841A>T	ENST00000369221.2	+	3	110	c.82A>T	c.(82-84)Agt>Tgt	p.S28C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	28					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CGGCTGCTTCAGTGATGACTC	0.428																																							uc001lcm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(82-84)AGT>TGT		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						91.0	88.0	89.0					10																	118306841		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306841A>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.82A>T	10.37:g.118306841A>T	ENSP00000358223:p.Ser28Cys						p.S28C	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	125	+			28					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.82A>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647363	0.47258	.	.	ENSG00000175535	ENST00000369221	D	0.91740	-2.9	5.12	3.92	0.45320	Lipase, N-terminal (1);	0.406191	0.25671	N	0.029073	D	0.95239	0.8456	M	0.91510	3.215	0.27959	N	0.936854	D	0.76494	0.999	D	0.70935	0.971	D	0.89616	0.3845	10	0.72032	D	0.01	.	1.6805	0.02830	0.5705:0.1616:0.093:0.1748	.	28	P16233	LIPP_HUMAN	C	28	ENSP00000358223:S28C	ENSP00000358223:S28C	S	+	1	0	PNLIP	118296831	0.010000	0.17322	0.988000	0.46212	0.548000	0.35241	0.261000	0.18442	2.160000	0.67779	0.482000	0.46254	AGT		0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		22	53	0	0	0	0.00278	0	22	53				
PPAPDC1A	196051	broad.mit.edu	37	10	122334784	122334784	+	Missense_Mutation	SNP	G	G	C	rs372039666		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:122334784G>C	ENST00000398250.1	+	6	939	c.587G>C	c.(586-588)cGc>cCc	p.R196P	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133P|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196P|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607																																							uc001lev.1		NA																	0				breast(1)	1						c.(586-588)CGC>CCC		phosphatidic acid phosphatase type 2 domain							71.0	72.0	72.0					10																	122334784		2139	4240	6379	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334784G>C	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.587G>C	10.37:g.122334784G>C	ENSP00000381302:p.Arg196Pro					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.R196P|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.R133P|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.R75P	p.R196P	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	939	+		Lung NSC(174;0.1)|all_lung(145;0.132)	196			Phosphatase sequence motif III.|Helical; (Potential).		A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.587G>C	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017694	0.93404	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	D;D;D;D;D	0.94000	-2.02;-3.33;-3.33;-3.33;-3.33	5.5	5.5	0.81552	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.047948	0.85682	D	0.000000	D	0.98623	0.9539	H	0.99811	4.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99556	1.0967	10	0.87932	D	0	-16.0404	19.3885	0.94566	0.0:0.0:1.0:0.0	.	196;133;196	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	P	133;196;196;196;186	ENSP00000403508:R133P;ENSP00000381302:R196P;ENSP00000407979:R196P;ENSP00000440493:R196P;ENSP00000358069:R186P	ENSP00000358069:R186P	R	+	2	0	PPAPDC1A	122324774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.570000	0.86706	0.655000	0.94253	CGC		0.607	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		18	36	0	0	0	0.007413	0	18	36				
ATE1	11101	broad.mit.edu	37	10	123661976	123661976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:123661976G>A	ENST00000224652.6	-	6	828	c.743C>T	c.(742-744)tCc>tTc	p.S248F	ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.S152F|ATE1_ENST00000369043.3_Missense_Mutation_p.S248F|ATE1_ENST00000540606.1_Missense_Mutation_p.S241F|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.S133F	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	248					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGCTGGTTGGATTTAGCCTT	0.413																																							uc001lfp.2		NA																	0					0						c.(742-744)TCC>TTC		arginyltransferase 1 isoform 2							150.0	144.0	146.0					10																	123661976		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123661976G>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.743C>T	10.37:g.123661976G>A	ENSP00000224652:p.Ser248Phe					ATE1_uc001lfq.2_Missense_Mutation_p.S248F|ATE1_uc010qtr.1_Missense_Mutation_p.S133F|ATE1_uc010qts.1_Missense_Mutation_p.S152F|ATE1_uc010qtt.1_Missense_Mutation_p.S241F|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron	p.S248F	NM_007041	NP_008972	O95260	ATE1_HUMAN			6	825	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	248					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.743C>T	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870735	0.51695	.	.	ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.2	3.16	0.36331	.	0.883210	0.10017	N	0.726446	T	0.61726	0.2370	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.32160	0.041;0.148;0.351;0.358	B;B;B;B	0.34722	0.123;0.092;0.11;0.188	T	0.63024	-0.6729	9	0.66056	D	0.02	-17.7583	9.509	0.39065	0.0805:0.2729:0.6466:0.0	.	241;152;248;248	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	F	248;248;152;241;133	.	ENSP00000224652:S248F	S	-	2	0	ATE1	123651966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.359000	0.44142	1.384000	0.46424	0.557000	0.71058	TCC		0.413	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		33	164	0	0	0	0.004878	0	33	164				
TACC2	10579	broad.mit.edu	37	10	123987514	123987514	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:123987514G>T	ENST00000369005.1	+	14	8227	c.7887G>T	c.(7885-7887)gcG>gcT	p.A2629A	TACC2_ENST00000369001.1_Silent_p.A333A|TACC2_ENST00000369004.3_Silent_p.A719A|TACC2_ENST00000334433.3_Silent_p.A2629A|TACC2_ENST00000513429.1_Silent_p.A775A|TACC2_ENST00000368999.1_Silent_p.A719A|TACC2_ENST00000260733.3_Silent_p.A707A|TACC2_ENST00000360561.3_Silent_p.A707A|TACC2_ENST00000515603.1_Silent_p.A2584A|TACC2_ENST00000369000.1_Silent_p.A329A|TACC2_ENST00000515273.1_Silent_p.A2633A|TACC2_ENST00000358010.1_Silent_p.A775A|TACC2_ENST00000453444.2_Silent_p.A2633A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2629					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAGAAGCGATTGAAATTG	0.572																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(7885-7887)GCG>GCT		transforming, acidic coiled-coil containing							67.0	71.0	70.0					10																	123987514		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123987514G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7887G>T	10.37:g.123987514G>T						TACC2_uc001lfw.2_Silent_p.A775A|TACC2_uc009xzx.2_Silent_p.A2584A|TACC2_uc010qtv.1_Silent_p.A2633A|TACC2_uc001lfx.2_Silent_p.A333A|TACC2_uc001lfy.2_Silent_p.A329A|TACC2_uc001lfz.2_Silent_p.A707A|TACC2_uc001lga.2_Silent_p.A707A|TACC2_uc009xzy.2_Silent_p.A719A|TACC2_uc001lgb.2_Silent_p.A664A	p.A2629A	NM_206862	NP_996744	O95359	TACC2_HUMAN			14	8247	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2629					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.7887G>T	CCDS7626.1																																																																																				0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			99	56	1	0	9.07443e-57	0.00361	1.74704e-56	99	56				
HMX3	340784	broad.mit.edu	37	10	124897076	124897076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:124897076G>T	ENST00000357878.5	+	2	992	c.903G>T	c.(901-903)caG>caT	p.Q301H		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	301					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCGCGGCGCAGCGCATCGTGC	0.721																																							uc010quc.1		NA																	0					0						c.(901-903)CAG>CAT		H6 family homeobox 3							14.0	17.0	16.0					10																	124897076		2181	4271	6452	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124897076G>T		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.903G>T	10.37:g.124897076G>T	ENSP00000350549:p.Gln301His						p.Q301H	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	903	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	301					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.903G>T	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923387	0.52653	.	.	ENSG00000188620	ENST00000357878	D	0.92048	-2.96	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.80422	2.495	0.80722	D	1	P	0.37985	0.613	B	0.37480	0.251	D	0.93089	0.6498	10	0.51188	T	0.08	.	17.7434	0.88413	0.0:0.0:1.0:0.0	.	301	A6NHT5	HMX3_HUMAN	H	301	ENSP00000350549:Q301H	ENSP00000350549:Q301H	Q	+	3	2	HMX3	124887066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.079000	0.50104	2.415000	0.81967	0.561000	0.74099	CAG		0.721	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		8	15	1	0	1.06961e-07	0.00308	1.33771e-07	8	15				
OAT	4942	broad.mit.edu	37	10	126100674	126100674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:126100674C>A	ENST00000368845.5	-	2	159	c.67G>T	c.(67-69)Gct>Tct	p.A23S	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	23					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GTAGCAGAAGCCACTGAAGAA	0.418																																							uc001lhp.2		NA																	0					0						c.(67-69)GCT>TCT		ornithine aminotransferase precursor	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						73.0	67.0	69.0					10																	126100674		2203	4300	6503	SO:0001583	missense	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126100674C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.67G>T	10.37:g.126100674C>A	ENSP00000357838:p.Ala23Ser					OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Intron	p.A23S	NM_000274	NP_000265	P04181	OAT_HUMAN			2	174	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	23					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	c.67G>T	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	9.548	1.115093	0.20795	.	.	ENSG00000065154	ENST00000368845	D	0.90955	-2.76	3.9	2.99	0.34606	.	0.323526	0.33457	N	0.004892	T	0.79094	0.4388	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.65907	-0.6054	10	0.10636	T	0.68	-6.8861	5.6175	0.17440	0.0:0.6082:0.0:0.3918	.	23	P04181	OAT_HUMAN	S	23	ENSP00000357838:A23S	ENSP00000357838:A23S	A	-	1	0	OAT	126090664	0.985000	0.35326	1.000000	0.80357	0.983000	0.72400	0.546000	0.23284	0.939000	0.37446	0.555000	0.69702	GCT		0.418	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		127	62	1	0	2.47456e-63	0.00361	4.78327e-63	127	62				
FANK1	92565	broad.mit.edu	37	10	127693610	127693610	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:127693610G>A	ENST00000368693.1	+	7	801	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.G227S			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	233						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATAAAGGATGGCTGTGAGGT	0.542																																							uc001ljh.3		NA																	0				ovary(1)	1						c.(697-699)GGC>AGC		fibronectin type III and ankyrin repeat domains							171.0	153.0	159.0					10																	127693610		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693610G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.697G>A	10.37:g.127693610G>A	ENSP00000357682:p.Gly233Ser					FANK1_uc009yan.2_Missense_Mutation_p.G259S|FANK1_uc001lji.2_Missense_Mutation_p.G227S	p.G233S	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			7	801	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	233			ANK 4.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.697G>A	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.000222|5.000222	0.93227|0.93227	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.72394|.	0.04;0.04;-0.65|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73753|0.73753	0.3627|0.3627	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.71427|0.71427	-0.4596|-0.4596	10|5	0.72032|.	D|.	0.01|.	-30.0599|-30.0599	18.3708|18.3708	0.90406|0.90406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	259;233;233|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	S|I	227;233;211;259|127	ENSP00000357684:G227S;ENSP00000357682:G233S;ENSP00000357680:G211S|.	ENSP00000357680:G211S|.	G|M	+|+	1|3	0|0	FANK1|FANK1	127683600|127683600	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.925000|0.925000	0.55904|0.55904	6.447000|6.447000	0.73465|0.73465	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GGC|ATG		0.542	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		37	72	0	0	0	0.005524	0	37	72				
MRGPRE	116534	broad.mit.edu	37	11	3249866	3249866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:3249866C>T	ENST00000389832.5	-	2	470	c.164G>A	c.(163-165)aGa>aAa	p.R55K	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R54K|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGGGGTTTCTGTAGACATT	0.632																																							uc001lxq.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(160-162)AGA>AAA		MAS-related GPR, member E							81.0	98.0	92.0					11																	3249866		2114	4221	6335	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249866C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.164G>A	11.37:g.3249866C>T	ENSP00000374482:p.Arg55Lys						p.R54K	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	471	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	54			Cytoplasmic (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.161G>A		.	.	.	.	.	.	.	.	.	.	c	8.886	0.952783	0.18431	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.32	0.188	0.15114	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001201	T	0.46268	0.1384	L	0.46885	1.475	0.09310	N	1	D	0.56035	0.974	D	0.63033	0.91	T	0.30060	-0.9991	9	0.32370	T	0.25	-4.2903	7.0596	0.25119	0.0:0.6487:0.0:0.3513	.	54	Q86SM8	MRGRE_HUMAN	K	55;54	.	ENSP00000374482:R54K	R	-	2	0	MRGPRE	3206442	0.000000	0.05858	0.101000	0.21167	0.381000	0.30169	-0.518000	0.06267	0.127000	0.18452	0.484000	0.47621	AGA		0.632	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		26	59	0	0	0	0.005443	0	26	59				
OR51F1	256892	broad.mit.edu	37	11	4790226	4790226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:4790226G>T	ENST00000380383.1	-	1	942	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L308M			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTAAGCAGCAGACTGAGCATA	0.418																																							uc010qyl.1		NA																	0				ovary(1)|skin(1)	2						c.(922-924)CTG>ATG		olfactory receptor, family 51, subfamily F,							95.0	91.0	92.0					11																	4790226		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790226G>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.943C>A	11.37:g.4790226G>T	ENSP00000369744:p.Leu315Met						p.L308M	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	922	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	308						Missense_Mutation	SNP	ENST00000380383.1	37	c.922C>A		.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164201	0.01673	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.42900	0.96;0.96	5.2	-0.18	0.13295	.	0.145674	0.29830	N	0.011092	T	0.30293	0.0760	L	0.52905	1.665	0.09310	N	1	B	0.26147	0.143	B	0.30029	0.11	T	0.13980	-1.0489	10	0.22706	T	0.39	.	3.6257	0.08112	0.4591:0.0:0.3659:0.1751	.	315	A6NGY5	O51F1_HUMAN	M	308;315	ENSP00000345163:L308M;ENSP00000369744:L315M	ENSP00000345163:L308M	L	-	1	2	OR51F1	4746802	0.296000	0.24398	0.002000	0.10522	0.080000	0.17528	0.919000	0.28692	0.083000	0.17047	-0.152000	0.13540	CTG		0.418	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		28	27	1	0	1.2476e-16	0.00632	1.99009e-16	28	27				
OR52J3	119679	broad.mit.edu	37	11	5068433	5068433	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5068433C>A	ENST00000380370.1	+	1	678	c.678C>A	c.(676-678)gtC>gtA	p.V226V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	226			V -> I (in dbSNP:rs17350764).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCGTGCTGTCTTCCGCCTCC	0.443																																							uc010qyv.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(676-678)GTC>GTA		olfactory receptor, family 52, subfamily J,							337.0	301.0	313.0					11																	5068433		2201	4298	6499	SO:0001819	synonymous_variant	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068433C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.678C>A	11.37:g.5068433C>A							p.V226V	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	678	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	226			Cytoplasmic (Potential).		Q6IFE4	Silent	SNP	ENST00000380370.1	37	c.678C>A	CCDS31370.1																																																																																				0.443	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		47	78	1	0	1.51926e-22	0.00361	2.67167e-22	47	78				
OR51B2	79345	broad.mit.edu	37	11	5344970	5344970	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5344970A>G	ENST00000328813.2	-	1	612	c.558T>C	c.(556-558)gcT>gcC	p.A186A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCAGCACAAGCCAGTCTCA	0.373																																							uc001mao.1		NA																	0				ovary(2)|skin(1)	3						c.(556-558)GCT>GCC		olfactory receptor, family 51, subfamily B,							83.0	82.0	82.0					11																	5344970		2201	4297	6498	SO:0001819	synonymous_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344970A>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.558T>C	11.37:g.5344970A>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.A186A	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	613	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	186			Extracellular (Potential).		Q96RD4	Silent	SNP	ENST00000328813.2	37	c.558T>C	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	A	5.270	0.235287	0.09969	.	.	ENSG00000176239	ENST00000537299	.	.	.	4.28	-6.06	0.02165	.	.	.	.	.	T	0.32941	0.0846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31392	-0.9945	5	0.22706	T	0.39	.	1.3658	0.02201	0.397:0.1016:0.287:0.2145	.	.	.	.	G	4	.	ENSP00000441886:S4G	S	+	1	0	OR51B6	5301546	0.000000	0.05858	0.465000	0.27155	0.629000	0.37895	-4.133000	0.00288	-1.622000	0.01560	-0.961000	0.02630	AGC		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		8	55	0	0	0	0.004482	0	8	55				
OR51I1	390063	broad.mit.edu	37	11	5461847	5461847	+	Nonsense_Mutation	SNP	C	C	A	rs267602954		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5461847C>A	ENST00000380211.1	-	1	897	c.898G>T	c.(898-900)Gag>Tag	p.E300*	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E300*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCGGATCTCCTTGGTTTTC	0.473																																							uc010qze.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(898-900)GAG>TAG		olfactory receptor, family 51, subfamily I,							111.0	106.0	108.0					11																	5461847		2201	4297	6498	SO:0001587	stop_gained	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5461847C>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.898G>T	11.37:g.5461847C>A	ENSP00000369559:p.Glu300*					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.E300*	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	898	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	300			Cytoplasmic (Potential).		B9EKW2|Q6IF33	Nonsense_Mutation	SNP	ENST00000380211.1	37	c.898G>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123385	0.37436	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	.	.	.	5.47	4.56	0.56223	.	0.226096	0.30820	N	0.008819	.	.	.	.	.	.	0.47547	D	0.999459	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.9512	0.41640	0.0:0.7845:0.1384:0.0771	.	.	.	.	X	297;300	.	ENSP00000439622:E297X	E	-	1	0	OR51I1	5418423	0.513000	0.26194	0.995000	0.50966	0.143000	0.21401	2.191000	0.42640	1.330000	0.45394	0.551000	0.68910	GAG		0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		25	52	1	0	1.04121e-07	0.005443	1.30446e-07	25	52				
UBQLNL	143630	broad.mit.edu	37	11	5537474	5537474	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5537474C>T	ENST00000380184.1	-	1	461	c.198G>A	c.(196-198)caG>caA	p.Q66Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	66	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTTGGTCCATCTGGCATTGGA	0.493																																							uc001maz.3		NA																	0				large_intestine(2)|skin(1)	3						c.(196-198)CAG>CAA		ubiquilin-like							202.0	157.0	172.0					11																	5537474		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537474C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.198G>A	11.37:g.5537474C>T						HBG2_uc001mak.1_Intron	p.Q66Q	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	483	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	66			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.198G>A	CCDS31385.1																																																																																				0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		14	28	0	0	0	0.00245	0	14	28				
OR56B1	387748	broad.mit.edu	37	11	5758365	5758365	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5758365T>A	ENST00000317121.3	+	1	685	c.619T>A	c.(619-621)Tgc>Agc	p.C207S	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AAACAGCATTTGCCAGTTGGT	0.443																																							uc001mbt.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(619-621)TGC>AGC		olfactory receptor, family 56, subfamily B,							81.0	73.0	76.0					11																	5758365		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758365T>A	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.619T>A	11.37:g.5758365T>A	ENSP00000322939:p.Cys207Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.C207S	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	619	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	207			Helical; Name=5; (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.619T>A	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493300	0.26774	.	.	ENSG00000181023	ENST00000317121	T	0.35973	1.28	5.91	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.665903	0.13098	U	0.414019	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.22152	0.038	T	0.22695	-1.0209	10	0.87932	D	0	-1.2407	5.966	0.19325	0.29:0.0:0.1509:0.5592	.	207	Q8NGI3	O56B1_HUMAN	S	207	ENSP00000322939:C207S	ENSP00000322939:C207S	C	+	1	0	OR56B1	5714941	0.001000	0.12720	0.714000	0.30535	0.730000	0.41778	1.181000	0.32017	0.427000	0.26145	0.533000	0.62120	TGC		0.443	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		6	39	0	0	0	0.001168	0	6	39				
OR56A1	120796	broad.mit.edu	37	11	6047984	6047984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6047984C>A	ENST00000316650.5	-	1	987	c.951G>T	c.(949-951)ggG>ggT	p.G317G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	317						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATTCACCTCCCTCTCTGCA	0.413																																							uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(949-951)GGG>GGT		olfactory receptor, family 56, subfamily A,							85.0	67.0	73.0					11																	6047984		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6047984C>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.951G>T	11.37:g.6047984C>A							p.G317G	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	951	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	317			Cytoplasmic (Potential).		B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.951G>T	CCDS31405.1																																																																																				0.413	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		14	25	1	0	1.49906e-05	0.00245	1.72931e-05	14	25				
CCKBR	887	broad.mit.edu	37	11	6292659	6292659	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6292659C>A	ENST00000334619.2	+	5	1423	c.1230C>A	c.(1228-1230)ccC>ccA	p.P410P	CCKBR_ENST00000532715.1_Silent_p.P326P|CCKBR_ENST00000525462.1_Silent_p.P479P	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	410					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGCCCCCGGCCTCCAC	0.642																																							uc001mcp.2		NA																	0				lung(5)|ovary(2)|breast(1)	8						c.(1228-1230)CCC>CCA		cholecystokinin B receptor	Pentagastrin(DB00183)						59.0	55.0	56.0					11																	6292659		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292659C>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1230C>A	11.37:g.6292659C>A						CCKBR_uc001mcq.2_Silent_p.P338P|CCKBR_uc001mcr.2_Silent_p.P393P|CCKBR_uc001mcs.2_Silent_p.P479P	p.P410P	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	5	1423	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	410			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.1230C>A	CCDS7761.1																																																																																				0.642	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		21	48	1	0	4.35082e-09	0.010504	5.69317e-09	21	48				
DNHD1	144132	broad.mit.edu	37	11	6588935	6588935	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6588935C>T	ENST00000527990.2	+	34	12196	c.12196C>T	c.(12196-12198)Cgg>Tgg	p.R4066W	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4066W			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4066					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCCTGGGTCGGCCCCTGGA	0.602																																							uc001mdw.3		NA																	0				ovary(2)	2						c.(12196-12198)CGG>TGG		dynein heavy chain domain 1 isoform 1							61.0	63.0	62.0					11																	6588935		2032	4174	6206	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588935C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12196C>T	11.37:g.6588935C>T	ENSP00000436180:p.Arg4066Trp					DNHD1_uc001mea.3_Missense_Mutation_p.R335W|DNHD1_uc001meb.2_Missense_Mutation_p.R334W|DNHD1_uc001mec.2_Missense_Mutation_p.R334W|DNHD1_uc010rao.1_Missense_Mutation_p.R324W|DNHD1_uc009yfg.2_5'Flank	p.R4066W	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12760	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4066					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12196C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361879	0.61403	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08896	3.04;3.04	4.85	3.91	0.45181	Dynein heavy chain (1);	0.245409	0.30667	N	0.009135	T	0.15739	0.0379	L	0.60455	1.87	0.29193	N	0.875725	B;D;D;B	0.71674	0.08;0.998;0.99;0.029	B;P;P;B	0.57846	0.035;0.828;0.745;0.035	T	0.07366	-1.0776	10	0.87932	D	0	-21.7354	4.114	0.10072	0.198:0.6286:0.0:0.1735	.	3154;334;119;4066	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	W	4066;4066;334;334	ENSP00000254579:R4066W;ENSP00000436180:R4066W	ENSP00000254579:R4066W	R	+	1	2	DNHD1	6545511	0.855000	0.29742	0.993000	0.49108	0.827000	0.46813	0.960000	0.29253	1.223000	0.43536	0.561000	0.74099	CGG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	59	0	0	0	0.000978	0	8	59				
DCHS1	8642	broad.mit.edu	37	11	6662136	6662136	+	Missense_Mutation	SNP	C	C	A	rs149950385		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6662136C>A	ENST00000299441.3	-	2	1120	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCCTGGGCCCTCCGGGGG	0.597																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(709-711)GCC>TCC		dachsous 1 precursor							104.0	105.0	105.0					11																	6662136		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662136C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.709G>T	11.37:g.6662136C>A	ENSP00000299441:p.Ala237Ser						p.A237S	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1119	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	237			Cadherin 2.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.709G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	9.531	1.110928	0.20714	.	.	ENSG00000166341	ENST00000299441	T	0.48201	0.82	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000294	T	0.32763	0.0840	N	0.02708	-0.52	0.28061	N	0.932982	P	0.52842	0.956	P	0.62435	0.902	T	0.27434	-1.0074	10	0.10902	T	0.67	.	5.9391	0.19184	0.1917:0.7055:0.0:0.1028	.	237	Q96JQ0	PCD16_HUMAN	S	237	ENSP00000299441:A237S	ENSP00000299441:A237S	A	-	1	0	DCHS1	6618712	0.998000	0.40836	1.000000	0.80357	0.428000	0.31595	3.080000	0.50112	2.312000	0.78011	0.544000	0.68410	GCC		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	68	1	0	4.87955e-14	0.005443	7.3295e-14	26	68				
ZNF215	7762	broad.mit.edu	37	11	6977037	6977037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6977037C>A	ENST00000278319.5	+	7	1417	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.Q277K|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	277					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATATAGGAACCAGAAAAAATG	0.393																																							uc001mey.2		NA																	0					0						c.(829-831)CAG>AAG		zinc finger protein 215							84.0	89.0	87.0					11																	6977037		2201	4295	6496	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977037C>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.829C>A	11.37:g.6977037C>A	ENSP00000278319:p.Gln277Lys					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.Q39K|ZNF215_uc001mez.1_Intron	p.Q277K	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1417	+			277					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.829C>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601244	0.28534	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.06449	3.3;3.3	3.8	3.8	0.43715	.	0.000000	0.41097	D	0.000949	T	0.08492	0.0211	N	0.14661	0.345	0.31697	N	0.641199	D	0.67145	0.996	P	0.60473	0.875	T	0.08848	-1.0702	10	0.34782	T	0.22	-12.6221	9.597	0.39580	0.0:0.7854:0.2146:0.0	.	277	Q9UL58	ZN215_HUMAN	K	277	ENSP00000278319:Q277K;ENSP00000393202:Q277K	ENSP00000278319:Q277K	Q	+	1	0	ZNF215	6933613	.	.	0.487000	0.27428	0.456000	0.32438	.	.	2.094000	0.63399	0.655000	0.94253	CAG		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			36	86	1	0	1.07121e-22	0.006999	1.88836e-22	36	86				
NLRP10	338322	broad.mit.edu	37	11	7981222	7981222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:7981222G>C	ENST00000328600.2	-	2	2098	c.1937C>G	c.(1936-1938)aCa>aGa	p.T646R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	646					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTTCCTCTGTCCCTCTGCC	0.378																																							uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1936-1938)ACA>AGA		NLR family, pyrin domain containing 10							114.0	103.0	107.0					11																	7981222		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981222G>C	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1937C>G	11.37:g.7981222G>C	ENSP00000327763:p.Thr646Arg						p.T646R	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1954	-			646					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1937C>G	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473828	0.26423	.	.	ENSG00000182261	ENST00000328600	T	0.79845	-1.31	3.04	-0.0451	0.13853	.	2.887420	0.01485	N	0.016823	T	0.67850	0.2937	N	0.19112	0.55	0.09310	N	0.999996	B	0.14438	0.01	B	0.10450	0.005	T	0.55585	-0.8118	10	0.72032	D	0.01	.	3.2892	0.06943	0.2651:0.2228:0.5121:0.0	.	646	Q86W26	NAL10_HUMAN	R	646	ENSP00000327763:T646R	ENSP00000327763:T646R	T	-	2	0	NLRP10	7937798	0.003000	0.15002	0.061000	0.19648	0.421000	0.31385	0.127000	0.15790	0.005000	0.14708	0.514000	0.50259	ACA		0.378	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		8	35	0	0	0	0.004482	0	8	35				
STK33	65975	broad.mit.edu	37	11	8496413	8496413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:8496413G>A	ENST00000447869.1	-	1	958	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	STK33_ENST00000315204.1_Missense_Mutation_p.P14S|STK33_ENST00000396673.1_Missense_Mutation_p.P14S|STK33_ENST00000396672.1_Missense_Mutation_p.P14S|STK33_ENST00000534493.1_Intron|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	14					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAACAGTCGGGGCATTTTGTG	0.393																																							uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(40-42)CCC>TCC		serine/threonine kinase 33							141.0	141.0	141.0					11																	8496413		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8496413G>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.40C>T	11.37:g.8496413G>A	ENSP00000416750:p.Pro14Ser					STK33_uc001mgj.1_Missense_Mutation_p.P14S|STK33_uc001mgk.1_Missense_Mutation_p.P14S|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	p.P14S	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	1	959	-			14					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.40C>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922961	0.18056	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000457885;ENST00000431279;ENST00000454443;ENST00000526360	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;1.29;0.19	4.59	0.625	0.17665	.	0.273372	0.26352	N	0.024865	T	0.40862	0.1134	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.14090	-1.0485	10	0.34782	T	0.22	.	3.827	0.08858	0.3564:0.0:0.4843:0.1593	.	14	Q9BYT3	STK33_HUMAN	S	14	ENSP00000416750:P14S;ENSP00000320754:P14S;ENSP00000379905:P14S;ENSP00000379906:P14S;ENSP00000403599:P14S;ENSP00000397569:P14S	ENSP00000320754:P14S	P	-	1	0	STK33	8452989	0.051000	0.20477	0.013000	0.15412	0.017000	0.09413	-0.345000	0.07770	0.025000	0.15241	0.563000	0.77884	CCC		0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		33	85	0	0	0	0.004878	0	33	85				
DENND5A	23258	broad.mit.edu	37	11	9199820	9199820	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:9199820T>C	ENST00000328194.3	-	8	2085	c.1765A>G	c.(1765-1767)Ata>Gta	p.I589V	DENND5A_ENST00000530044.1_Missense_Mutation_p.I589V|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	589					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACACATTATTTTGTTGTCA	0.468																																							uc001mhl.2		NA																	0				liver(1)	1						c.(1765-1767)ATA>GTA		RAB6 interacting protein 1							125.0	117.0	120.0					11																	9199820		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9199820T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1765A>G	11.37:g.9199820T>C	ENSP00000328524:p.Ile589Val					DENND5A_uc010rbw.1_Missense_Mutation_p.I589V|DENND5A_uc010rbx.1_RNA	p.I589V	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			8	2020	-			589					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1765A>G	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.893030	0.72524	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.04809	3.55;3.55	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	L	0.33753	1.03	0.80722	D	1	P;B	0.40250	0.709;0.165	B;B	0.40702	0.338;0.241	T	0.37572	-0.9700	10	0.49607	T	0.09	.	15.5621	0.76256	0.0:0.0:0.0:1.0	.	589;589	E9PS91;Q6IQ26	.;DEN5A_HUMAN	V	589	ENSP00000328524:I589V;ENSP00000435866:I589V	ENSP00000328524:I589V	I	-	1	0	DENND5A	9156396	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.027000	0.88791	2.139000	0.66308	0.459000	0.35465	ATA		0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		21	52	0	0	0	0.008871	0	21	52				
IPO7	10527	broad.mit.edu	37	11	9431591	9431591	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:9431591T>C	ENST00000379719.3	+	4	579	c.437T>C	c.(436-438)cTa>cCa	p.L146P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	146					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTTGTTGGCTAGGAATTCTT	0.378																																							uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(436-438)CTA>CCA		importin 7							185.0	166.0	172.0					11																	9431591		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9431591T>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.437T>C	11.37:g.9431591T>C	ENSP00000369042:p.Leu146Pro						p.L146P	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	4	579	+			146					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.437T>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207237	0.79127	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.68479	-0.33;-0.33	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.48362	1.52	0.80722	D	1	P	0.48640	0.913	P	0.50049	0.629	T	0.69213	-0.5204	10	0.41790	T	0.15	.	15.5056	0.75739	0.0:0.0:0.0:1.0	.	146	O95373	IPO7_HUMAN	P	146;84	ENSP00000369042:L146P;ENSP00000435235:L84P	ENSP00000369042:L146P	L	+	2	0	IPO7	9388167	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.011000	0.88624	2.050000	0.60909	0.477000	0.44152	CTA		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		33	28	0	0	0	0.003755	0	33	28				
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373918	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:11373917_11373918CC>AA	ENST00000528848.2	-	1	986_987	c.749_750GG>TT	c.(748-750)gGG>gTT	p.G250V	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										AATCTTCTGTCCCCAGAAACTT	0.416																																							uc001mjp.2		NA																	0					0						c.(748-750)GGG>GTT		casein kinase II alpha 1 subunit isoform a																																				SO:0001583	missense	283106							g.chr11:11373917_11373918CC>AA	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.749_750delinsAA	11.37:g.11373917_11373918delinsAA	ENSP00000473553:p.Gly250Val					GALNTL4_uc001mjo.2_Intron	p.G250V	NM_177559	NP_808227					1	987_988	-									Missense_Mutation	DNP	ENST00000528848.2	37	c.749_750GG>TT	CCDS59224.1																																																																																				0.416	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		8	91	0	0	0	0.004672	0	8	91				
FAR1	84188	broad.mit.edu	37	11	13734550	13734550	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:13734550A>T	ENST00000354817.3	+	8	1069	c.925A>T	c.(925-927)Agc>Tgc	p.S309C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	309					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TACAACAGGCAGCACTAATCC	0.348																																							uc001mld.2		NA																	0				ovary(1)|skin(1)	2						c.(925-927)AGC>TGC		fatty acyl CoA reductase 1							244.0	238.0	240.0					11																	13734550		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13734550A>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.925A>T	11.37:g.13734550A>T	ENSP00000346874:p.Ser309Cys					FAR1_uc009ygp.2_Missense_Mutation_p.S309C	p.S309C	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			8	1080	+			309					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.925A>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399548	0.62177	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.31769	1.92;1.48	5.4	5.4	0.78164	NAD(P)-binding domain (1);	0.046404	0.85682	D	0.000000	T	0.24353	0.0590	N	0.24115	0.695	0.80722	D	1	D;B	0.54964	0.969;0.011	P;B	0.48227	0.571;0.009	T	0.03761	-1.1006	10	0.52906	T	0.07	-10.2432	6.1596	0.20356	0.7939:0.0:0.2061:0.0	.	309;309	E7ETC1;Q8WVX9	.;FACR1_HUMAN	C	309	ENSP00000346874:S309C;ENSP00000437111:S309C	ENSP00000346874:S309C	S	+	1	0	FAR1	13691126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	2.031000	0.59945	0.533000	0.62120	AGC		0.348	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		26	94	0	0	0	0.008361	0	26	94				
KCNJ11	3767	broad.mit.edu	37	11	17409593	17409593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:17409593G>A	ENST00000339994.4	-	1	613	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	KCNJ11_ENST00000528731.1_Intron|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	16					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TCTGCCAGGCGTGTCAGCACG	0.657																																							uc001mna.2		NA																	0				ovary(1)	1						c.(46-48)CGC>TGC		potassium inwardly-rectifying channel J11							57.0	63.0	61.0					11																	17409593		2200	4292	6492	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409593G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.46C>T	11.37:g.17409593G>A	ENSP00000345708:p.Arg16Cys					KCNJ11_uc001mnb.3_Intron	p.R16C	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	614	-			16					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.46C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729881	0.48833	.	.	ENSG00000187486	ENST00000339994	D	0.88664	-2.41	4.3	3.35	0.38373	.	0.082793	0.49305	D	0.000145	D	0.90721	0.7088	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	D	0.90464	0.4448	10	0.62326	D	0.03	.	13.18	0.59649	0.0:0.0:0.8391:0.1609	.	16	B2RC52	.	C	16	ENSP00000345708:R16C	ENSP00000345708:R16C	R	-	1	0	KCNJ11	17366169	1.000000	0.71417	0.308000	0.25141	0.795000	0.44927	5.699000	0.68310	0.751000	0.32900	0.462000	0.41574	CGC		0.657	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		9	82	0	0	0	0.004482	0	9	82				
USH1C	10083	broad.mit.edu	37	11	17539001	17539001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:17539001C>G	ENST00000318024.4	-	15	1339	c.1231G>C	c.(1231-1233)Gag>Cag	p.E411Q	USH1C_ENST00000005226.7_Intron|USH1C_ENST00000529563.1_5'Flank|USH1C_ENST00000527720.1_Missense_Mutation_p.E380Q|USH1C_ENST00000527020.1_Missense_Mutation_p.E392Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	411					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGCTCGAGCTCAGGTTCCACT	0.607																																							uc001mnf.2		NA																	0				ovary(1)	1						c.(1231-1233)GAG>CAG		harmonin isoform a							57.0	40.0	46.0					11																	17539001		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17539001C>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1231G>C	11.37:g.17539001C>G	ENSP00000317018:p.Glu411Gln					USH1C_uc001mne.2_Intron|USH1C_uc009yhb.2_Missense_Mutation_p.E392Q|USH1C_uc001mng.2_Intron|USH1C_uc001mnd.2_Missense_Mutation_p.E375Q	p.E411Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			15	1340	-			411					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1231G>C	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	2.924	-0.222533	0.06061	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020	T;T;T	0.25912	1.77;1.77;2.02	5.36	-7.87	0.01183	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30504	-0.9976	9	0.16420	T	0.52	.	3.1288	0.06417	0.1008:0.14:0.37:0.3891	.	392;411	Q9Y6N9-4;Q9Y6N9	.;USH1C_HUMAN	Q	411;380;392	ENSP00000317018:E411Q;ENSP00000432944:E380Q;ENSP00000436934:E392Q	ENSP00000317018:E411Q	E	-	1	0	USH1C	17495577	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.092000	0.03366	-1.266000	0.02446	-0.345000	0.07892	GAG		0.607	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		4	11	0	0	0	0.009096	0	4	11				
TPH1	7166	broad.mit.edu	37	11	18044361	18044361	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:18044361C>A	ENST00000250018.2	-	9	1706	c.1144G>T	c.(1144-1146)Gca>Tca	p.A382S	TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.A382S|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	382					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCTCCTTTGCATCTTCAAAA	0.398																																							uc001mnp.2		NA																	0					0						c.(1144-1146)GCA>TCA		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						85.0	78.0	80.0					11																	18044361		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18044361C>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1144G>T	11.37:g.18044361C>A	ENSP00000250018:p.Ala382Ser					TPH1_uc009yhe.2_RNA	p.A382S	NM_004179	NP_004170	P17752	TPH1_HUMAN			9	1170	-			382					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.1144G>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098218	0.94197	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99607	-6.27;-6.27	5.69	5.69	0.88448	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	M	0.86805	2.84	0.80722	D	1	D	0.63046	0.992	D	0.68039	0.955	D	0.98173	1.0453	10	0.66056	D	0.02	-16.2525	19.801	0.96507	0.0:1.0:0.0:0.0	.	382	P17752	TPH1_HUMAN	S	382	ENSP00000250018:A382S;ENSP00000343550:A382S	ENSP00000250018:A382S	A	-	1	0	TPH1	18000937	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.685000	0.91497	0.555000	0.69702	GCA		0.398	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		17	19	1	0	0.00400662	0.004007	0.00425446	17	19				
SLC6A5	9152	broad.mit.edu	37	11	20676304	20676304	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:20676304T>G	ENST00000525748.1	+	16	2557	c.2284T>G	c.(2284-2286)Tta>Gta	p.L762V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	762					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGGCCCATTCTTAGCTCAACA	0.547																																							uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2284-2286)TTA>GTA		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						135.0	129.0	131.0					11																	20676304		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676304T>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2284T>G	11.37:g.20676304T>G	ENSP00000434364:p.Leu762Val					SLC6A5_uc009yic.2_Missense_Mutation_p.L527V	p.L762V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			16	2557	+			762			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2284T>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917562	0.52546	.	.	ENSG00000165970	ENST00000525748	T	0.73363	-0.74	6.04	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.68449	0.3002	L	0.32530	0.975	0.58432	D	0.999992	P	0.50066	0.931	P	0.48089	0.566	T	0.69676	-0.5081	10	0.62326	D	0.03	.	8.9987	0.36068	0.0:0.2014:0.0:0.7986	.	762	Q9Y345	SC6A5_HUMAN	V	762	ENSP00000434364:L762V	ENSP00000434364:L762V	L	+	1	2	SLC6A5	20632880	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.001000	0.49488	1.116000	0.41820	0.460000	0.39030	TTA		0.547	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		10	125	0	0	0	0.000978	0	10	125				
NELL1	4745	broad.mit.edu	37	11	20959377	20959377	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:20959377T>G	ENST00000357134.5	+	10	1195	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	NELL1_ENST00000298925.5_Missense_Mutation_p.I376S|NELL1_ENST00000532434.1_Missense_Mutation_p.I348S|NELL1_ENST00000325319.5_Missense_Mutation_p.I291S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	348					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGCCAGCGGATTTTAACCAAG	0.408																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1042-1044)ATT>AGT		nel-like 1 isoform 1 precursor							107.0	104.0	105.0					11																	20959377		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20959377T>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1043T>G	11.37:g.20959377T>G	ENSP00000349654:p.Ile348Ser					NELL1_uc001mqf.2_Missense_Mutation_p.I348S|NELL1_uc009yid.2_Missense_Mutation_p.I376S|NELL1_uc010rdo.1_Missense_Mutation_p.I291S|NELL1_uc010rdp.1_Missense_Mutation_p.I108S	p.I348S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			10	1196	+			348			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1043T>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929896	0.34096	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.18	5.18	0.71444	von Willebrand factor, type C (1);	0.194565	0.43747	D	0.000522	T	0.63827	0.2544	L	0.38531	1.155	0.48762	D	0.999705	P;D;B;P	0.59357	0.899;0.985;0.007;0.956	P;P;B;B	0.55999	0.571;0.789;0.015;0.438	T	0.59010	-0.7534	10	0.17832	T	0.49	-14.9357	15.0403	0.71785	0.0:0.0:0.0:1.0	.	291;376;348;348	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	376;348;291;348	ENSP00000298925:I376S;ENSP00000349654:I348S;ENSP00000317837:I291S;ENSP00000437170:I348S	ENSP00000298925:I376S	I	+	2	0	NELL1	20915953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.518000	0.73764	1.966000	0.57179	0.459000	0.35465	ATT		0.408	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		7	99	0	0	0	0.00308	0	7	99				
FANCF	2188	broad.mit.edu	37	11	22646301	22646301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:22646301T>A	ENST00000327470.3	-	1	1086	c.1056A>T	c.(1054-1056)ttA>ttT	p.L352F	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	352					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TACGAAGAGCTAATAAGAGGT	0.433			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001mql.1		NA	yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			0				skin(1)	1						c.(1054-1056)TTA>TTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							138.0	133.0	134.0					11																	22646301		2203	4300	6503	SO:0001583	missense	2188	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646301T>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.1056A>T	11.37:g.22646301T>A	ENSP00000330875:p.Leu352Phe		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.L352F	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	1087	-			352					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.1056A>T	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559817	0.45590	.	.	ENSG00000183161	ENST00000327470	T	0.44083	0.93	5.03	-5.86	0.02304	.	0.437819	0.17836	U	0.160348	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	1	D	0.53462	0.96	P	0.55455	0.776	T	0.45891	-0.9230	10	0.44086	T	0.13	-1.6497	16.5736	0.84631	0.0:0.6598:0.0:0.3402	.	352	Q9NPI8	FANCF_HUMAN	F	352	ENSP00000330875:L352F	ENSP00000330875:L352F	L	-	3	2	FANCF	22602877	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-1.007000	0.03667	-1.282000	0.02396	0.459000	0.35465	TTA		0.433	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		33	95	0	0	0	0.002445	0	33	95				
ANO3	63982	broad.mit.edu	37	11	26619958	26619958	+	Silent	SNP	C	C	A	rs148526395		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:26619958C>A	ENST00000256737.3	+	15	2346	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	ANO3_ENST00000525139.1_Silent_p.T482T|ANO3_ENST00000531568.1_Silent_p.T352T|ANO3_ENST00000537978.1_Silent_p.T482T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	498					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTATACTGACCTATACTTGGG	0.368																																							uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1492-1494)ACC>ACA		transmembrane protein 16C		C		0,4406		0,0,2203	125.0	124.0	124.0		1494	-1.6	1.0	11	dbSNP_134	124	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANO3	NM_031418.2		0,1,6501	AA,AC,CC		0.0116,0.0,0.0077		498/982	26619958	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26619958C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1494C>A	11.37:g.26619958C>A						ANO3_uc010rdr.1_Silent_p.T482T|ANO3_uc010rds.1_Silent_p.T337T|ANO3_uc010rdt.1_Silent_p.T352T	p.T498T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			15	1639	+			498			Cytoplasmic (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.1494C>A	CCDS31447.1																																																																																				0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		172	81	1	0	1.06793e-96	0.00361	2.08383e-96	172	81				
DCDC1	341019	broad.mit.edu	37	11	31312394	31312394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:31312394G>T	ENST00000452803.1	-	7	961	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	DCDC1_ENST00000597505.1_Missense_Mutation_p.L254M	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	254					intracellular signal transduction (GO:0035556)			p.L254L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAACAACAGATGGTCTAGA	0.328																																							uc001msv.2		NA																	1	Substitution - coding silent(1)		cervix(1)	skin(1)	1						c.(760-762)CTG>ATG		doublecortin domain containing 1							59.0	59.0	59.0					11																	31312394		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312394G>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.760C>A	11.37:g.31312394G>T	ENSP00000389792:p.Leu254Met					DCDC1_uc001msu.1_Intron	p.L254M	NM_181807	NP_861523	P59894	DCDC1_HUMAN			7	962	-	Lung SC(675;0.225)		254					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.760C>A	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401950	0.62288	.	.	ENSG00000188682	ENST00000452803	T	0.33216	1.42	5.78	5.78	0.91487	Doublecortin domain (2);	0.000000	0.38959	N	0.001517	T	0.54515	0.1863	M	0.63428	1.95	0.31746	N	0.63516	D	0.89917	1.0	D	0.91635	0.999	T	0.57075	-0.7873	10	0.42905	T	0.14	-6.288	18.1891	0.89802	0.0:0.0:1.0:0.0	.	254	P59894	DCDC1_HUMAN	M	254	ENSP00000389792:L254M	ENSP00000389792:L254M	L	-	1	2	DCDC1	31268970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.112000	0.64634	2.717000	0.92951	0.655000	0.94253	CTG		0.328	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		14	27	1	0	2.23348e-06	0.004007	2.64207e-06	14	27				
CCDC73	493860	broad.mit.edu	37	11	32724484	32724484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:32724484G>A	ENST00000335185.5	-	4	257	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Missense_Mutation_p.L72F	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	72										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGATTCTGAAGAGTTTCCTGT	0.318																																							uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(214-216)CTT>TTT		sarcoma antigen NY-SAR-79							201.0	186.0	191.0					11																	32724484		1805	4075	5880	SO:0001583	missense	493860							g.chr11:32724484G>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.214C>T	11.37:g.32724484G>A	ENSP00000335325:p.Leu72Phe					CCDC73_uc001mtw.1_Missense_Mutation_p.L72F|CCDC73_uc009yjt.2_Missense_Mutation_p.L72F	p.L72F	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			4	258	-	Breast(20;0.112)		72			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.214C>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290063	0.59976	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	T	0.61400	0.2344	L	0.50333	1.59	0.29788	N	0.833438	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.58853	-0.7563	8	0.56958	D	0.05	.	10.8727	0.46894	0.0889:0.0:0.9111:0.0	.	72;72;72	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	F	72	.	ENSP00000335325:L72F	L	-	1	0	CCDC73	32681060	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.415000	0.59809	2.365000	0.80145	0.462000	0.41574	CTT		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		13	80	0	0	0	0.001855	0	13	80				
CAPRIN1	4076	broad.mit.edu	37	11	34118027	34118027	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:34118027G>T	ENST00000341394.4	+	16	1896	c.1707G>T	c.(1705-1707)gtG>gtT	p.V569V	CAPRIN1_ENST00000389645.3_Splice_Site_p.V569V|CAPRIN1_ENST00000530820.1_Splice_Site_p.V569V|CAPRIN1_ENST00000532820.1_Splice_Site_p.V569V|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Splice_Site_p.V488V	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	569					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAATTATAGTGGTTGGCACTT	0.428																																							uc001mvh.1		NA																	0				ovary(1)	1						c.(1705-1707)GTG>GTT		membrane component chromosome 11 surface marker							51.0	53.0	52.0					11																	34118027		2202	4298	6500	SO:0001630	splice_region_variant	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34118027G>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1706-1G>T	11.37:g.34118027G>T						CAPRIN1_uc001mvg.2_Silent_p.V569V|CAPRIN1_uc001mvi.2_Silent_p.V569V|CAPRIN1_uc001mvj.1_Silent_p.V488V	p.V569V	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			16	1896	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	569					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	c.1707G>T	CCDS31453.1																																																																																				0.428	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898	Silent	20	33	1	0	2.39187e-15	0.008871	3.71441e-15	20	33				
PAMR1	25891	broad.mit.edu	37	11	35463195	35463195	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:35463195C>A	ENST00000378880.2	-	7	1312	c.867G>T	c.(865-867)ggG>ggT	p.G289G	PAMR1_ENST00000378878.3_Silent_p.G178G|PAMR1_ENST00000278360.3_Silent_p.G306G|PAMR1_ENST00000532848.1_Silent_p.G249G	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	289	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTTCTGGTACCCATTGACTG	0.428																																							uc001mwg.2		NA																	0				ovary(2)	2						c.(865-867)GGG>GGT		regeneration associated muscle protease isoform							71.0	74.0	73.0					11																	35463195		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463195C>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.867G>T	11.37:g.35463195C>A						PAMR1_uc001mwf.2_Silent_p.G306G|PAMR1_uc010rew.1_Silent_p.G178G|PAMR1_uc010rex.1_Silent_p.G249G	p.G289G	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			7	910	-			289			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.867G>T	CCDS31460.1																																																																																				0.428	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		44	52	1	0	2.00842e-17	0.002522	3.25775e-17	44	52				
LDLRAD3	143458	broad.mit.edu	37	11	36103329	36103329	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:36103329G>T	ENST00000315571.5	+	3	340		c.e3+1		LDLRAD3_ENST00000524419.1_Splice_Site|LDLRAD3_ENST00000528989.1_Splice_Site	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3						receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GAGAACTGCAGTAAGTGCTGC	0.527																																							uc001mwk.1		NA																	0				central_nervous_system(1)	1						c.e3+1		low density lipoprotein receptor class A domain							124.0	106.0	112.0					11																	36103329		2202	4298	6500	SO:0001630	splice_region_variant	143458					integral to membrane	receptor activity	g.chr11:36103329G>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.319+1G>T	11.37:g.36103329G>T						LDLRAD3_uc010rey.1_Splice_Site_p.T58_splice|LDLRAD3_uc010rez.1_Splice_Site	p.T107_splice	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			3	356	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)						B7Z1U3|B9EG81|Q8NBJ0	Splice_Site	SNP	ENST00000315571.5	37	c.319_splice	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034717	0.93575	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000545142;ENST00000315571	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LDLRAD3	36059905	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	.		0.527	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902	Intron	29	53	1	0	1.74807e-11	0.002096	2.44967e-11	29	53				
ALKBH3	221120	broad.mit.edu	37	11	43908168	43908168	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:43908168G>T	ENST00000302708.4	+	5	642	c.231G>T	c.(229-231)gtG>gtT	p.V77V	ALKBH3_ENST00000378840.4_Silent_p.V76V|ALKBH3_ENST00000532410.1_3'UTR	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	77					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GAGAGGGTGTGTATGAAATCA	0.388								Direct reversal of damage																															uc001mxs.2		NA																	0					0						c.(229-231)GTG>GTT	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						152.0	134.0	140.0					11																	43908168		2203	4300	6503	SO:0001819	synonymous_variant	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43908168G>T	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.231G>T	11.37:g.43908168G>T						ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	p.V77V	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			5	674	+			77					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	ENST00000302708.4	37	c.231G>T	CCDS7906.1																																																																																				0.388	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		6	36	1	0	1.12685e-05	0.004482	1.30516e-05	6	36				
PRDM11	56981	broad.mit.edu	37	11	45117395	45117395	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:45117395C>A	ENST00000530656.1	+	1	39	c.39C>A	c.(37-39)atC>atA	p.I13I	PRDM11_ENST00000263765.4_Silent_p.I13I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	13							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ccctgatgatcgtggagtgcc	0.527																																					NSCLC(118;1511 1736 6472 36603 43224)	NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(37-39)ATC>ATA		PR domain containing 11							162.0	129.0	140.0					11																	45117395		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45117395C>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.39C>A	11.37:g.45117395C>A							p.I13I	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			2	288	+			13					Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.39C>A																																																																																					0.527	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		19	60	1	0	6.44725e-10	0.002299	8.56861e-10	19	60				
PRDM11	56981	broad.mit.edu	37	11	45204635	45204635	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:45204635C>T	ENST00000530656.1	+	4	549	c.549C>T	c.(547-549)atC>atT	p.I183I	PRDM11_ENST00000424263.2_Silent_p.I149I|PRDM11_ENST00000263765.4_Silent_p.I183I|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	183	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGGGCAGATCTCCACCCAGG	0.557											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(118;1511 1736 6472 36603 43224)	NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(547-549)ATC>ATT		PR domain containing 11							59.0	59.0	59.0					11																	45204635		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45204635C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.549C>T	11.37:g.45204635C>T			OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929		p.I183I	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			5	798	+			183			SET.		Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.549C>T																																																																																					0.557	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		11	22	0	0	0	0.001855	0	11	22				
HARBI1	283254	broad.mit.edu	37	11	46637683	46637683	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46637683C>G	ENST00000326737.3	-	2	352	c.105G>C	c.(103-105)ttG>ttC	p.L35F	ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	35						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ACATGGACATCAAGTATTCAT	0.478																																							uc001ncy.2		NA																	0					0						c.(103-105)TTG>TTC		harbinger transposase derived 1							83.0	76.0	78.0					11																	46637683		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637683C>G	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.105G>C	11.37:g.46637683C>G	ENSP00000317743:p.Leu35Phe					KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	p.L35F	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			2	353	-			35					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.105G>C	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432009	0.25813	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.07	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.34521	1.04	0.54753	D	0.999989	B	0.32573	0.376	B	0.32393	0.145	T	0.17048	-1.0382	9	0.02654	T	1	-14.1639	8.6953	0.34291	0.1383:0.7416:0.0:0.12	.	35	Q96MB7	HARB1_HUMAN	F	35	.	ENSP00000317743:L35F	L	-	3	2	HARBI1	46594259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.806000	0.38892	2.534000	0.85438	0.655000	0.94253	TTG		0.478	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		13	48	0	0	0	0.001368	0	13	48				
ARHGAP1	392	broad.mit.edu	37	11	46700978	46700978	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46700978G>A	ENST00000311956.4	-	12	1165	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	356	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCGTCTGGAGGACCTGCAGTG	0.597																																							uc001ndd.2		NA																	0				skin(1)	1						c.(1066-1068)GTC>GTT		Rho GTPase activating protein 1							71.0	74.0	73.0					11																	46700978		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46700978G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.1068C>T	11.37:g.46700978G>A							p.V356V	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	12	1137	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	356			Rho-GAP.		D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.1068C>T	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	8.103	0.777080	0.16120	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.55	0.998	0.19857	.	.	.	.	.	T	0.45577	0.1349	.	.	.	0.44652	D	0.997633	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	3.7306	0.08491	0.0813:0.3329:0.2947:0.2911	.	.	.	.	S	310	.	.	P	-	1	0	ARHGAP1	46657554	0.095000	0.21747	0.077000	0.20336	0.940000	0.58332	0.709000	0.25734	-0.070000	0.12908	0.561000	0.74099	CCT		0.597	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		17	29	0	0	0	0.008871	0	17	29				
ARHGAP1	392	broad.mit.edu	37	11	46701249	46701249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46701249G>T	ENST00000311956.4	-	11	1073	c.976C>A	c.(976-978)Cct>Act	p.P326T		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	326	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGGGGCTCAGGAAGCTCCCGG	0.617																																							uc001ndd.2		NA																	0				skin(1)	1						c.(976-978)CCT>ACT		Rho GTPase activating protein 1							92.0	106.0	101.0					11																	46701249		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46701249G>T	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.976C>A	11.37:g.46701249G>T	ENSP00000310491:p.Pro326Thr						p.P326T	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	11	1045	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	326			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.976C>A	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.524321|4.524321	0.85600|0.85600	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000311956;ENST00000443332|ENST00000528837	T|.	0.58797|.	0.31|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.099180|.	0.64402|.	D|.	0.000001|.	D|D	0.85839|0.85839	0.5790|0.5790	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	P|.	0.46706|.	0.883|.	P|.	0.52793|.	0.709|.	D|D	0.88623|0.88623	0.3164|0.3164	10|5	0.87932|.	D|.	0|.	.|.	18.9343|18.9343	0.92579|0.92579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	326|.	Q07960|.	RHG01_HUMAN|.	T|Y	326|279	ENSP00000310491:P326T|.	ENSP00000310491:P326T|.	P|S	-|-	1|2	0|0	ARHGAP1|ARHGAP1	46657825|46657825	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	9.554000|9.554000	0.98121|0.98121	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.617	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		22	35	1	0	1.9806e-07	0.002299	2.45363e-07	22	35				
ARHGAP1	392	broad.mit.edu	37	11	46702914	46702914	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46702914G>A	ENST00000311956.4	-	6	562	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ACAAGGCCTTGATGTTTTTCT	0.522																																							uc001ndd.2		NA																	0				skin(1)	1						c.(463-465)ATC>ATT		Rho GTPase activating protein 1							261.0	190.0	214.0					11																	46702914		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46702914G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.465C>T	11.37:g.46702914G>A							p.I155I	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	6	534	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	155			CRAL-TRIO.		D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.465C>T	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	7.659	0.684590	0.14973	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.09	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1349	0.36868	0.0797:0.0:0.7765:0.1438	.	.	.	.	X	109	.	.	Q	-	1	0	ARHGAP1	46659490	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	0.761000	0.26489	1.076000	0.40961	0.561000	0.74099	CAA		0.522	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		35	58	0	0	0	0.00623	0	35	58				
F2	2147	broad.mit.edu	37	11	46750227	46750227	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46750227A>T	ENST00000311907.5	+	11	1368	c.1312A>T	c.(1312-1314)Att>Ttt	p.I438F	F2_ENST00000530231.1_Missense_Mutation_p.I438F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	438	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CGAGCGAAACATTGAAAAGAT	0.532																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	0				ovary(3)	3						c.(1312-1314)ATT>TTT		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						88.0	80.0	83.0					11																	46750227		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46750227A>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1312A>T	11.37:g.46750227A>T	ENSP00000308541:p.Ile438Phe					F2_uc001ndg.3_RNA	p.I438F	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	11	1355	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	438			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1312A>T	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	A	8.427	0.847684	0.17034	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88664	-2.41;-2.41	5.88	-0.437	0.12272	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.436923	0.27323	N	0.019893	T	0.76263	0.3963	N	0.17278	0.47	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.64879	-0.6303	10	0.87932	D	0	.	5.7913	0.18361	0.6521:0.0:0.2369:0.111	.	438	P00734	THRB_HUMAN	F	438	ENSP00000308541:I438F;ENSP00000433907:I438F	ENSP00000308541:I438F	I	+	1	0	F2	46706803	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	0.364000	0.20325	-0.320000	0.08640	0.533000	0.62120	ATT		0.532	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			15	47	0	0	0	0.004007	0	15	47				
OR4A16	81327	broad.mit.edu	37	11	55110788	55110788	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55110788G>T	ENST00000314721.2	+	1	162	c.112G>T	c.(112-114)Gtg>Ttg	p.V38L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTGACAATGGTGGGAAACCT	0.423																																							uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(112-114)GTG>TTG		olfactory receptor, family 4, subfamily A,							119.0	112.0	114.0					11																	55110788		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110788G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.112G>T	11.37:g.55110788G>T	ENSP00000325128:p.Val38Leu						p.V38L	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	112	+			38			Helical; Name=1; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.112G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	0.237	-1.016574	0.02078	.	.	ENSG00000181961	ENST00000314721	T	0.00258	8.41	2.41	1.46	0.22682	.	.	.	.	.	T	0.00073	0.0002	N	0.10664	0.02	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.06899	-1.0801	9	0.09843	T	0.71	.	3.7507	0.08565	0.3503:0.0:0.6497:0.0	.	38	Q8NH70	O4A16_HUMAN	L	38	ENSP00000325128:V38L	ENSP00000325128:V38L	V	+	1	0	OR4A16	54867364	0.000000	0.05858	0.649000	0.29536	0.031000	0.12232	-1.288000	0.02783	1.353000	0.45828	0.185000	0.17295	GTG		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		18	56	1	0	2.89027e-11	0.002299	3.99594e-11	18	56				
OR4C15	81309	broad.mit.edu	37	11	55322514	55322514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55322514T>A	ENST00000314644.2	+	1	732	c.732T>A	c.(730-732)gaT>gaA	p.D244E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGCACTGATACTCACATCT	0.438										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(730-732)GAT>GAA		olfactory receptor, family 4, subfamily C,							146.0	97.0	114.0					11																	55322514		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322514T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.732T>A	11.37:g.55322514T>A	ENSP00000324958:p.Asp244Glu	HNSCC(20;0.049)					p.D244E	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	732	+			190			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.732T>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574945	0.28092	.	.	ENSG00000181939	ENST00000314644	T	0.00227	8.5	5.02	-0.267	0.12938	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.87758	2.905	0.09310	N	1	B	0.31581	0.329	B	0.37304	0.246	T	0.15925	-1.0420	9	0.72032	D	0.01	.	8.7358	0.34528	0.0:0.4829:0.0:0.5171	.	190	Q8NGM1	OR4CF_HUMAN	E	244	ENSP00000324958:D244E	ENSP00000324958:D244E	D	+	3	2	OR4C15	55079090	0.000000	0.05858	0.206000	0.23566	0.080000	0.17528	-0.506000	0.06359	-0.197000	0.10350	-0.578000	0.04140	GAT		0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		11	24	0	0	0	0.008291	0	11	24				
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498																																							uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(448-450)TCC>TAC		olfactory receptor, family 4, subfamily C,							154.0	142.0	146.0					11																	55340052		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340052C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.449C>A	11.37:g.55340052C>A	ENSP00000324913:p.Ser150Tyr						p.S150Y	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	449	+		all_epithelial(135;0.0748)	150			Helical; Name=4; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.449C>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538750	0.45176	.	.	ENSG00000181935	ENST00000314634	T	0.47869	0.83	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.099200	0.45606	D	0.000357	T	0.73923	0.3649	M	0.90759	3.145	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.69745	-0.5062	10	0.87932	D	0	.	15.7881	0.78326	0.0:1.0:0.0:0.0	.	150	Q8NGL9	OR4CG_HUMAN	Y	150	ENSP00000324913:S150Y	ENSP00000324913:S150Y	S	+	2	0	OR4C16	55096628	0.000000	0.05858	0.964000	0.40570	0.414000	0.31173	0.309000	0.19332	2.595000	0.87683	0.549000	0.68633	TCC		0.498	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		26	64	1	0	4.26978e-12	0.00333	6.0541e-12	26	64				
OR4C16	219428	broad.mit.edu	37	11	55340325	55340325	+	Missense_Mutation	SNP	A	A	T	rs146728227		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55340325A>T	ENST00000314634.3	+	1	722	c.722A>T	c.(721-723)cAc>cTc	p.H241L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGTGTCTCCCACATCATTGTG	0.388													a|||	1	0.000199681	0.0	0.0	5008	,	,		21811	0.001		0.0	False		,,,				2504	0.0						uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(721-723)CAC>CTC		olfactory receptor, family 4, subfamily C,							172.0	141.0	151.0					11																	55340325		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340325A>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.722A>T	11.37:g.55340325A>T	ENSP00000324913:p.His241Leu						p.H241L	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	722	+		all_epithelial(135;0.0748)	241			Helical; Name=6; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.722A>T	CCDS31502.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	17.66	3.444476	0.63178	.	.	ENSG00000181935	ENST00000314634	T	0.00307	8.17	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.01421	0.0046	H	0.99475	4.585	0.34719	D	0.728566	D	0.69078	0.997	D	0.74023	0.982	T	0.01604	-1.1314	10	0.87932	D	0	.	12.1455	0.54022	1.0:0.0:0.0:0.0	.	241	Q8NGL9	OR4CG_HUMAN	L	241	ENSP00000324913:H241L	ENSP00000324913:H241L	H	+	2	0	OR4C16	55096901	1.000000	0.71417	0.993000	0.49108	0.747000	0.42532	7.186000	0.77722	1.979000	0.57680	0.448000	0.29417	CAC		0.388	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		15	35	0	0	0	0.00245	0	15	35				
OR4P4	81300	broad.mit.edu	37	11	55406058	55406058	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55406058G>A	ENST00000314612.2	+	1	225	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATCCACAGTGACCCCCAAAT	0.408																																							uc010rij.1		NA																	0				central_nervous_system(1)	1						c.(223-225)GTG>GTA		olfactory receptor, family 4, subfamily P,							146.0	126.0	133.0					11																	55406058		2179	4031	6210	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406058G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.225G>A	11.37:g.55406058G>A							p.V75V	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	225	+			75			Helical; Name=2; (Potential).			Silent	SNP	ENST00000314612.2	37	c.225G>A	CCDS31504.1																																																																																				0.408	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		20	80	0	0	0	0.008871	0	20	80				
OR4S2	219431	broad.mit.edu	37	11	55418917	55418917	+	Missense_Mutation	SNP	C	C	G	rs140330182	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55418917C>G	ENST00000312422.2	+	1	538	c.538C>G	c.(538-540)Cac>Gac	p.H180D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGTGATGTTCACCCTGTGTT	0.453																																							uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(538-540)CAC>GAC		olfactory receptor, family 4, subfamily S,							264.0	200.0	222.0					11																	55418917		2182	4050	6232	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418917C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.538C>G	11.37:g.55418917C>G	ENSP00000310337:p.His180Asp						p.H180D	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	538	+		all_epithelial(135;0.0748)	180			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.538C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402312	0.42613	.	.	ENSG00000174982	ENST00000312422	T	0.00051	8.81	5.21	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.108665	0.40818	N	0.001003	T	0.00241	0.0007	L	0.37561	1.115	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51639	-0.8680	10	0.66056	D	0.02	.	4.7064	0.12851	0.1769:0.6065:0.0:0.2166	.	180	Q8NH73	OR4S2_HUMAN	D	180	ENSP00000310337:H180D	ENSP00000310337:H180D	H	+	1	0	OR4S2	55175493	0.000000	0.05858	0.986000	0.45419	0.976000	0.68499	-5.818000	0.00096	1.160000	0.42584	0.542000	0.68232	CAC		0.453	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		50	120	0	0	0	0.00361	0	50	120				
OR4C6	219432	broad.mit.edu	37	11	55433261	55433261	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55433261G>T	ENST00000314259.3	+	1	648	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGTGTGTGGCCATCTTTCT	0.488																																							uc001nht.3		NA																	0				skin(2)	2						c.(619-621)GCC>TCC		olfactory receptor, family 4, subfamily C,							143.0	124.0	131.0					11																	55433261		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433261G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.619G>T	11.37:g.55433261G>T	ENSP00000324769:p.Ala207Ser					OR4C6_uc010rik.1_Missense_Mutation_p.A207S	p.A207S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	884	+			207			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.619G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815015	0.16607	.	.	ENSG00000181903	ENST00000314259	T	0.37235	1.21	4.07	-6.42	0.01932	GPCR, rhodopsin-like superfamily (1);	1.223500	0.06159	N	0.675587	T	0.12092	0.0294	N	0.02345	-0.59	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.22347	-1.0219	10	0.39692	T	0.17	.	3.8751	0.09053	0.1038:0.1237:0.5229:0.2495	.	207	Q8NH72	OR4C6_HUMAN	S	207	ENSP00000324769:A207S	ENSP00000324769:A207S	A	+	1	0	OR4C6	55189837	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-2.042000	0.01414	-0.698000	0.05085	0.543000	0.68304	GCC		0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		23	46	1	0	9.95505e-16	0.002299	1.55696e-15	23	46				
OR5L1	219437	broad.mit.edu	37	11	55578989	55578989	+	Missense_Mutation	SNP	G	G	T	rs386753698		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55578989G>T	ENST00000333973.2	+	1	136	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCTCCTTGGACTATCAGAT	0.433																																							uc001nhw.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(46-48)GGA>GTA		olfactory receptor, family 5, subfamily L,							205.0	194.0	198.0					11																	55578989		2200	4293	6493	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55578989G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.47G>T	11.37:g.55578989G>T	ENSP00000335529:p.Gly16Val						p.G16V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	47	+		all_epithelial(135;0.208)	16			Extracellular (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.47G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	15.12	2.739859	0.49045	.	.	ENSG00000186117	ENST00000333973	T	0.00659	5.94	4.32	4.32	0.51571	.	0.000000	0.47852	D	0.000212	T	0.05135	0.0137	M	0.86097	2.795	0.24826	N	0.992552	D	0.76494	0.999	D	0.77004	0.989	T	0.02042	-1.1224	10	0.87932	D	0	-20.4793	15.462	0.75366	0.0:0.0:1.0:0.0	.	16	Q8NGL2	OR5L1_HUMAN	V	16	ENSP00000335529:G16V	ENSP00000335529:G16V	G	+	2	0	OR5L1	55335565	1.000000	0.71417	0.025000	0.17156	0.055000	0.15305	4.001000	0.57046	1.975000	0.57531	0.435000	0.28638	GGA		0.433	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		32	129	1	0	9.14704e-12	0.00874	1.29187e-11	32	129				
TRIM51	84767	broad.mit.edu	37	11	55653694	55653694	+	Splice_Site	SNP	G	G	T	rs143260124		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55653694G>T	ENST00000449290.2	+	3	599	c.507G>T	c.(505-507)aaG>aaT	p.K169N	TRIM51_ENST00000244891.3_Splice_Site_p.K26N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	169						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GATGCTGGAAGGTTAGTACCG	0.398																																							uc010rip.1		NA																	0					0						c.(505-507)AAG>AAT		SPRY domain containing 5							90.0	90.0	90.0					11																	55653694		2201	4296	6497	SO:0001630	splice_region_variant	84767					intracellular	zinc ion binding	g.chr11:55653694G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.507+1G>T	11.37:g.55653694G>T						SPRYD5_uc010riq.1_Missense_Mutation_p.K26N	p.K169N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	599	+		all_epithelial(135;0.226)	169					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.507G>T		.	.	.	.	.	.	.	.	.	.	.	2.118	-0.402012	0.04865	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.05258	3.47;3.47	.	.	.	.	.	.	.	.	T	0.10035	0.0246	M	0.81802	2.56	0.80722	D	1	B	0.13145	0.007	B	0.15870	0.014	T	0.04373	-1.0956	7	0.59425	D	0.04	.	.	.	.	.	169	Q9BSJ1	SPRY5_HUMAN	N	169;26	ENSP00000395086:K169N;ENSP00000244891:K26N	ENSP00000244891:K26N	K	+	3	2	SPRYD5	55410270	0.711000	0.27906	0.096000	0.21009	0.104000	0.19210	-0.250000	0.08830	0.149000	0.19098	0.152000	0.16155	AAG		0.398	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	Missense_Mutation	21	40	1	0	6.21321e-17	0.00278	9.97712e-17	21	40				
OR5T3	390154	broad.mit.edu	37	11	56019807	56019807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56019807G>T	ENST00000303059.3	+	1	132	c.132G>T	c.(130-132)ttG>ttT	p.L44F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363																																							uc010rjd.1		NA																	0					0						c.(130-132)TTG>TTT		olfactory receptor, family 5, subfamily T,							111.0	111.0	111.0					11																	56019807		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019807G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.132G>T	11.37:g.56019807G>T	ENSP00000305403:p.Leu44Phe						p.L44F	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	132	+	Esophageal squamous(21;0.00448)		44			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.132G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047938	0.36085	.	.	ENSG00000172489	ENST00000303059	T	0.00384	7.6	4.75	-1.71	0.08133	.	0.262784	0.18315	N	0.144978	T	0.00300	0.0009	M	0.70275	2.135	0.09310	N	1	P	0.37731	0.607	B	0.40636	0.335	T	0.43940	-0.9360	10	0.40728	T	0.16	.	2.844	0.05538	0.2785:0.4219:0.191:0.1087	.	44	Q8NGG3	OR5T3_HUMAN	F	44	ENSP00000305403:L44F	ENSP00000305403:L44F	L	+	3	2	OR5T3	55776383	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-4.084000	0.00298	-0.072000	0.12864	-0.134000	0.14843	TTG		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		12	52	1	0	0.00136819	0.001368	0.00147234	12	52				
OR5M11	219487	broad.mit.edu	37	11	56310441	56310441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56310441G>T	ENST00000528616.2	-	1	316	c.293C>A	c.(292-294)aCa>aAa	p.T98K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GTAGCACTGTGTAAAGCAACC	0.448																																							uc010rjl.1		NA																	0					0						c.(292-294)ACA>AAA		olfactory receptor, family 5, subfamily M,							86.0	87.0	87.0					11																	56310441		2181	4288	6469	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310441G>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.293C>A	11.37:g.56310441G>T	ENSP00000432417:p.Thr98Lys						p.T98K	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	293	-			98			Extracellular (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.293C>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919706	0.33908	.	.	ENSG00000255223	ENST00000528616	T	0.01359	4.98	5.1	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04318	0.0119	H	0.94808	3.585	0.09310	N	1	B	0.30584	0.286	B	0.28465	0.09	T	0.10042	-1.0647	9	0.72032	D	0.01	.	7.8823	0.29629	0.5027:0.0:0.4973:0.0	.	98	Q96RB7	OR5MB_HUMAN	K	98	ENSP00000432417:T98K	ENSP00000432417:T98K	T	-	2	0	OR5M11	56067017	0.000000	0.05858	0.084000	0.20598	0.891000	0.51852	0.252000	0.18278	0.468000	0.27243	0.632000	0.83419	ACA		0.448	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		9	21	1	0	0.000442599	0.006214	0.000483873	9	21				
OR5M11	219487	broad.mit.edu	37	11	56310563	56310563	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56310563C>A	ENST00000528616.2	-	1	194	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACATGGGCGTGTGAAGGC	0.458																																							uc010rjl.1		NA																	0					0						c.(169-171)ACG>ACT		olfactory receptor, family 5, subfamily M,							154.0	155.0	155.0					11																	56310563		2173	4280	6453	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310563C>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.171G>T	11.37:g.56310563C>A							p.T57T	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	171	-			57			Helical; Name=2; (Potential).		B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.171G>T	CCDS53629.1																																																																																				0.458	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		40	70	1	0	3.43241e-23	0.009718	6.11055e-23	40	70				
OR9G1	390174	broad.mit.edu	37	11	56468342	56468342	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56468342A>C	ENST00000312153.1	+	1	479	c.479A>C	c.(478-480)aAg>aCg	p.K160T		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCATCACCAAGAAAACGTTT	0.468																																							uc010rjn.1		NA																	0					0						c.(478-480)AAG>ACG		olfactory receptor, family 9, subfamily G,							174.0	166.0	169.0					11																	56468342		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468342A>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.479A>C	11.37:g.56468342A>C	ENSP00000309012:p.Lys160Thr						p.K160T	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	479	+			160			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.479A>C	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	0.760	-0.769756	0.02974	.	.	ENSG00000174914	ENST00000312153	T	0.36520	1.25	4.52	0.544	0.17185	GPCR, rhodopsin-like superfamily (1);	0.836991	0.10650	N	0.650023	T	0.09730	0.0239	N	0.00621	-1.32	0.09310	N	1	B	0.12013	0.005	B	0.21360	0.034	T	0.23797	-1.0178	10	0.41790	T	0.15	-6.9388	0.9143	0.01301	0.432:0.2393:0.1878:0.1409	.	160	Q8NH87	OR9G1_HUMAN	T	160	ENSP00000309012:K160T	ENSP00000309012:K160T	K	+	2	0	OR9G1	56224918	0.000000	0.05858	0.022000	0.16811	0.138000	0.21146	-0.053000	0.11846	0.313000	0.23062	-0.380000	0.06706	AAG		0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		6	113	0	0	0	0.001168	0	6	113				
CLP1	10978	broad.mit.edu	37	11	57428834	57428834	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57428834C>T	ENST00000302731.4	+	3	1132	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	CLP1_ENST00000525602.1_Silent_p.L402L|CLP1_ENST00000533682.1_Silent_p.L402L|CLP1_ENST00000529430.1_Silent_p.L413L	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GTTTACTGTTCTGTCTCCAGC	0.532																																							uc001nkw.2		NA																	0				ovary(1)	1						c.(1204-1206)CTG>TTG		ATP/GTP-binding protein isoform 1							183.0	147.0	159.0					11																	57428834		2201	4296	6497	SO:0001819	synonymous_variant	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428834C>T	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.1012C>T	11.37:g.57428834C>T						CLP1_uc010rjw.1_Silent_p.L338L|CLP1_uc009yml.2_Silent_p.L402L	p.L402L	NM_006831	NP_006822	Q92989	CLP1_HUMAN			3	1343	+			402					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000302731.4	37	c.1204C>T	CCDS44600.1																																																																																				0.532	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		12	75	0	0	0	0.001368	0	12	75				
OR9I1	219954	broad.mit.edu	37	11	57886376	57886376	+	Missense_Mutation	SNP	G	G	A	rs563265590		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57886376G>A	ENST00000302610.1	-	1	540	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGGGGTGGGAGGTCACAGAAG	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23573	0.0		0.0	False		,,,				2504	0.0						uc001nml.1		NA																	0				pancreas(1)	1						c.(541-543)CTC>TTC		olfactory receptor, family 9, subfamily I,							70.0	67.0	68.0					11																	57886376		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886376G>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.541C>T	11.37:g.57886376G>A	ENSP00000302606:p.Leu181Phe					OR9Q1_uc001nmj.2_Intron	p.L181F	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	541	-		Breast(21;0.0589)	181			Extracellular (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.541C>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	6.801	0.516762	0.13005	.	.	ENSG00000172377	ENST00000302610	T	0.38077	1.16	4.8	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.162864	0.29152	N	0.012996	T	0.27278	0.0669	L	0.49571	1.57	0.29486	N	0.855972	B	0.20988	0.05	B	0.27076	0.076	T	0.23619	-1.0183	10	0.54805	T	0.06	-8.2519	1.6202	0.02712	0.1555:0.18:0.4337:0.2308	.	181	Q8NGQ6	OR9I1_HUMAN	F	181	ENSP00000302606:L181F	ENSP00000302606:L181F	L	-	1	0	OR9I1	57642952	0.000000	0.05858	1.000000	0.80357	0.156000	0.22039	-1.578000	0.02125	0.209000	0.20645	0.460000	0.39030	CTC		0.488	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		8	22	0	0	0	0.004482	0	8	22				
OR9Q2	219957	broad.mit.edu	37	11	57958227	57958227	+	Missense_Mutation	SNP	G	G	A	rs142991971		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57958227G>A	ENST00000311591.3	+	1	322	c.265G>A	c.(265-267)Ggc>Agc	p.G89S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GTGGGAGCACGGCACAACCAT	0.572																																							uc010rka.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(265-267)GGC>AGC		olfactory receptor, family 9, subfamily Q,							184.0	134.0	151.0					11																	57958227		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958227G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.265G>A	11.37:g.57958227G>A	ENSP00000308714:p.Gly89Ser						p.G89S	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	265	+		Breast(21;0.0589)	89			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.265G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666419	0.29604	.	.	ENSG00000186513	ENST00000311591	T	0.01323	5.01	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.151709	0.31909	N	0.006864	T	0.02267	0.0070	N	0.16201	0.385	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.55256	-0.8169	10	0.45353	T	0.12	-19.1528	8.717	0.34416	0.0781:0.2683:0.6535:0.0	.	89	Q8NGE9	OR9Q2_HUMAN	S	89	ENSP00000308714:G89S	ENSP00000308714:G89S	G	+	1	0	OR9Q2	57714803	0.016000	0.18221	0.168000	0.22838	0.001000	0.01503	1.346000	0.33964	2.765000	0.95021	0.655000	0.94253	GGC		0.572	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		29	80	0	0	0	0.009535	0	29	80				
OR9Q2	219957	broad.mit.edu	37	11	57958678	57958678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57958678C>A	ENST00000311591.3	+	1	773	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AAGACCTTCTCCACCTGCGCC	0.567																																							uc010rka.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(715-717)TCC>TAC		olfactory receptor, family 9, subfamily Q,							133.0	116.0	122.0					11																	57958678		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958678C>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.716C>A	11.37:g.57958678C>A	ENSP00000308714:p.Ser239Tyr						p.S239Y	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	716	+		Breast(21;0.0589)	239			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.716C>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710897	0.68730	.	.	ENSG00000186513	ENST00000311591	T	0.00311	8.15	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000344	T	0.01061	0.0035	M	0.92077	3.27	0.36568	D	0.872808	D	0.89917	1.0	D	0.91635	0.999	T	0.55982	-0.8054	10	0.87932	D	0	-24.9404	18.0179	0.89247	0.0:1.0:0.0:0.0	.	239	Q8NGE9	OR9Q2_HUMAN	Y	239	ENSP00000308714:S239Y	ENSP00000308714:S239Y	S	+	2	0	OR9Q2	57715254	0.079000	0.21365	0.998000	0.56505	0.994000	0.84299	2.399000	0.44495	2.795000	0.96236	0.655000	0.94253	TCC		0.567	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		21	37	1	0	5.26018e-13	0.001882	7.68508e-13	21	37				
OR5B3	441608	broad.mit.edu	37	11	58170490	58170490	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:58170490G>T	ENST00000309403.2	-	1	392	c.393C>A	c.(391-393)acC>acA	p.T131T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATGGTTGTGGTGTAATGTA	0.478																																							uc010rkf.1		NA																	0					0						c.(391-393)ACC>ACA		olfactory receptor, family 5, subfamily B,							131.0	116.0	121.0					11																	58170490		2201	4295	6496	SO:0001819	synonymous_variant	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170490G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.393C>A	11.37:g.58170490G>T							p.T131T	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	393	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	131			Cytoplasmic (Potential).		Q6IEV6	Silent	SNP	ENST00000309403.2	37	c.393C>A	CCDS31549.1																																																																																				0.478	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		22	58	1	0	8.10497e-08	0.010504	1.01718e-07	22	58				
OR4D6	219983	broad.mit.edu	37	11	59224722	59224722	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:59224722T>G	ENST00000300127.2	+	1	312	c.289T>G	c.(289-291)Tgc>Ggc	p.C97G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	97						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTACAATGACTGCATGGCACA	0.463																																							uc010rku.1		NA																	0				ovary(1)	1						c.(289-291)TGC>GGC		olfactory receptor, family 4, subfamily D,							159.0	154.0	156.0					11																	59224722		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224722T>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.289T>G	11.37:g.59224722T>G	ENSP00000300127:p.Cys97Gly						p.C97G	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	289	+			97			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.289T>G	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129825	0.77549	.	.	ENSG00000166884	ENST00000300127	T	0.00542	6.69	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.05731	0.0150	H	0.99074	4.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.01130	-1.1442	10	0.87932	D	0	-14.641	15.3394	0.74284	0.0:0.0:0.0:1.0	.	97	Q8NGJ1	OR4D6_HUMAN	G	97	ENSP00000300127:C97G	ENSP00000300127:C97G	C	+	1	0	OR4D6	58981298	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	6.293000	0.72731	2.295000	0.77249	0.528000	0.53228	TGC		0.463	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		38	101	0	0	0	0.007835	0	38	101				
CCDC86	79080	broad.mit.edu	37	11	60609861	60609861	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:60609861C>T	ENST00000227520.5	+	1	318	c.264C>T	c.(262-264)ggC>ggT	p.G88G	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	88	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGAGCCAGGCGCAGCGTCCC	0.647																																							uc001nqa.2		NA																	0					0						c.(262-264)GGC>GGT		coiled-coil domain containing 86							51.0	55.0	54.0					11																	60609861		2203	4299	6502	SO:0001819	synonymous_variant	79080				interspecies interaction between organisms	nucleus		g.chr11:60609861C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.264C>T	11.37:g.60609861C>T						CCDC86_uc001nqb.2_5'UTR	p.G88G	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			1	433	+			88			Pro-rich.		B4DY99	Silent	SNP	ENST00000227520.5	37	c.264C>T	CCDS7993.1																																																																																				0.647	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		12	51	0	0	0	0.001855	0	12	51				
MYRF	745	broad.mit.edu	37	11	61539178	61539178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:61539178G>A	ENST00000278836.5	+	6	1043	c.947G>A	c.(946-948)cGt>cAt	p.R316H	MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R307H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	316	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCATTGCCCGTGTCCAGACA	0.692																																							uc001nsc.1		NA																	0				breast(1)	1						c.(946-948)CGT>CAT		myelin gene regulatory factor isoform 2							65.0	78.0	74.0					11																	61539178		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61539178G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.947G>A	11.37:g.61539178G>A	ENSP00000278836:p.Arg316His					C11orf9_uc001nse.1_Missense_Mutation_p.R307H	p.R316H	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			6	1043	+			316			NDT80.|Pro-rich.		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.947G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	g	17.49	3.401450	0.62288	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.32753	1.44;1.46	4.56	3.63	0.41609	NDT80 DNA-binding domain (1);	0.334157	0.23852	N	0.043937	T	0.28665	0.0710	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.57152	0.814;0.474	T	0.03651	-1.1016	10	0.52906	T	0.07	-29.6507	9.5262	0.39165	0.1014:0.0:0.8986:0.0	.	307;316	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	H	316;307	ENSP00000278836:R316H;ENSP00000265460:R307H	ENSP00000265460:R307H	R	+	2	0	C11orf9	61295754	0.163000	0.22920	1.000000	0.80357	0.669000	0.39330	1.655000	0.37345	2.265000	0.75225	0.457000	0.33378	CGT		0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		33	81	0	0	0	0.004878	0	33	81				
RPS6KA4	8986	broad.mit.edu	37	11	64135651	64135651	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:64135651G>T	ENST00000334205.4	+	10	1184	c.1119G>T	c.(1117-1119)gcG>gcT	p.A373A	MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000528057.1_Silent_p.A373A	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	373					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACAACAACGCGGTGATGACCG	0.667																																							uc001oae.2		NA																	0				lung(3)|ovary(1)|breast(1)	5						c.(1117-1119)GCG>GCT		ribosomal protein S6 kinase, 90kDa, polypeptide							62.0	62.0	62.0					11																	64135651		2201	4297	6498	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64135651G>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1119G>T	11.37:g.64135651G>T						RPS6KA4_uc001oad.2_Silent_p.A373A|RPS6KA4_uc010rnl.1_Silent_p.A310A|RPS6KA4_uc001oaf.2_Silent_p.A373A|RPS6KA4_uc009ypp.2_Intron|MIR1237_hsa-mir-1237|MI0006327_5'Flank	p.A373A	NM_003942	NP_003933	O75676	KS6A4_HUMAN			10	1202	+			373					A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.1119G>T	CCDS8073.1																																																																																				0.667	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		17	54	1	0	1.67942e-08	0.006122	2.14882e-08	17	54				
KLC2	64837	broad.mit.edu	37	11	66029663	66029663	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66029663G>A	ENST00000417856.1	+	4	772	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	KLC2_ENST00000421552.1_Splice_Site_p.A100T|KLC2_ENST00000394067.2_Splice_Site_p.A177T|KLC2_ENST00000394066.2_Splice_Site_p.A100T|KLC2_ENST00000394078.1_Splice_Site_p.A177T|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_Splice_Site_p.A38T|KLC2_ENST00000316924.5_Splice_Site_p.A177T|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	177					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGAGCCCAGGTGCGGATGG	0.572																																							uc010rov.1		NA																	0					0						c.(529-531)GCC>ACC		kinesin light chain 2 isoform 1							85.0	69.0	74.0					11																	66029663		2200	4295	6495	SO:0001630	splice_region_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66029663G>A	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.529+1G>A	11.37:g.66029663G>A						KLC2_uc010row.1_Missense_Mutation_p.A177T|KLC2_uc009yra.2_Missense_Mutation_p.A177T|KLC2_uc001ohb.2_Missense_Mutation_p.A177T|KLC2_uc010rox.1_Missense_Mutation_p.A100T|KLC2_uc001ohc.2_Missense_Mutation_p.A177T|KLC2_uc001ohd.2_Missense_Mutation_p.A100T|KLC2_uc001ohe.1_Missense_Mutation_p.A38T	p.A177T	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN			4	772	+			177					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.529G>A	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846317	0.51164	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000394066;ENST00000394065	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.04	4.04	0.47022	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	T	0.38214	0.1032	N	0.08118	0	0.50313	D	0.999869	B;P;P;B	0.46064	0.06;0.872;0.761;0.005	B;P;B;B	0.52710	0.065;0.707;0.324;0.021	T	0.20371	-1.0277	9	.	.	.	-16.5137	13.2219	0.59892	0.0:0.0:1.0:0.0	.	177;38;100;177	A8MX29;A8MZ87;A8MXL7;Q9H0B6	.;.;.;KLC2_HUMAN	T	177;177;177;100;177;100;100;38	ENSP00000399403:A177T;ENSP00000377631:A177T;ENSP00000314837:A177T;ENSP00000408484:A100T;ENSP00000377641:A177T;ENSP00000434538:A100T;ENSP00000377630:A100T;ENSP00000377629:A38T	.	A	+	1	0	KLC2	65786239	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.056000	0.76662	2.081000	0.62600	0.561000	0.74099	GCC		0.572	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	Missense_Mutation	11	21	0	0	0	0.008291	0	11	21				
CTSF	8722	broad.mit.edu	37	11	66335023	66335023	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66335023G>A	ENST00000310325.5	-	3	532	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	141					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCCTGAGTGAAGGCTGACT	0.547																																							uc001oip.2		NA																	0					0						c.(421-423)TTC>TTT		cathepsin F precursor							112.0	111.0	111.0					11																	66335023		2200	4295	6495	SO:0001819	synonymous_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335023G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.423C>T	11.37:g.66335023G>A							p.F141F	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	513	-			141					B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.423C>T	CCDS8144.1																																																																																				0.547	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		27	81	0	0	0	0.00632	0	27	81				
CCDC87	55231	broad.mit.edu	37	11	66358707	66358707	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66358707C>A	ENST00000333861.3	-	1	1847	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	594					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TAGTCATCCACAGACAAGGTG	0.468																																							uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(1780-1782)GTG>TTG		coiled-coil domain containing 87							151.0	137.0	142.0					11																	66358707		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358707C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1780G>T	11.37:g.66358707C>A	ENSP00000328487:p.Val594Leu					CCS_uc001oir.2_5'Flank	p.V594L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1848	-			594					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1780G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790122	0.16258	.	.	ENSG00000182791	ENST00000333861	T	0.29142	1.58	5.05	-3.78	0.04333	.	2.412840	0.01996	N	0.045935	T	0.24314	0.0589	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11251	-1.0595	10	0.25106	T	0.35	.	0.5272	0.00622	0.3752:0.2358:0.1231:0.2659	.	594	Q9NVE4	CCD87_HUMAN	L	594	ENSP00000328487:V594L	ENSP00000328487:V594L	V	-	1	0	CCDC87	66115283	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.864000	0.00347	-0.272000	0.09259	0.462000	0.41574	GTG		0.468	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		29	80	1	0	6.38683e-12	0.008361	9.04697e-12	29	80				
MRPL21	219927	broad.mit.edu	37	11	68660871	68660871	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68660871C>A	ENST00000362034.2	-	5	458	c.449G>T	c.(448-450)gGa>gTa	p.G150V	MRPL21_ENST00000450904.2_Splice_Site_p.G65V|MRPL21_ENST00000567045.1_Splice_Site_p.G65V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	150					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGCCATTACCCGAGGAGTGG	0.532																																							uc001ooi.2		NA																	0					0						c.(448-450)GGA>GTA		mitochondrial ribosomal protein L21 isoform d							65.0	63.0	64.0					11																	68660871		2200	4294	6494	SO:0001630	splice_region_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68660871C>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.449+1G>T	11.37:g.68660871C>A						MRPL21_uc001ooh.2_Missense_Mutation_p.G65V|MRPL21_uc010rqe.1_Missense_Mutation_p.G150V	p.G150V	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		5	474	-			150					A6NKU0|C9JPR2	Missense_Mutation	SNP	ENST00000362034.2	37	c.449G>T	CCDS8186.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837892	0.50951	.	.	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	4.25	4.25	0.50352	.	0.122423	0.53938	D	0.000046	T	0.77418	0.4127	M	0.76838	2.35	0.80722	D	1	D;D	0.61697	0.99;0.99	D;P	0.65323	0.934;0.832	T	0.80063	-0.1539	9	0.51188	T	0.08	-12.2105	15.6122	0.76733	0.0:1.0:0.0:0.0	.	150;150	B4DXI4;Q7Z2W9	.;RM21_HUMAN	V	65;150;150	.	ENSP00000354580:G150V	G	-	2	0	MRPL21	68417447	1.000000	0.71417	0.974000	0.42286	0.403000	0.30841	4.891000	0.63185	2.209000	0.71365	0.561000	0.74099	GGA		0.532	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512	Missense_Mutation	16	28	1	0	5.45024e-15	0.00333	8.38767e-15	16	28				
TPCN2	219931	broad.mit.edu	37	11	68846201	68846201	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68846201G>A	ENST00000294309.3	+	15	1451		c.e15-1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCGTTGCAGGTGTTCCTGG	0.657																																							uc001oos.2		NA																	0					0						c.e15-1		two pore segment channel 2							85.0	79.0	81.0					11																	68846201		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68846201G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1351-1G>A	11.37:g.68846201G>A						TPCN2_uc009ysk.1_Splice_Site|TPCN2_uc001oor.2_Splice_Site_p.V366_splice|TPCN2_uc010rqg.1_Splice_Site_p.V451_splice|TPCN2_uc001oot.2_Splice_Site	p.V451_splice	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	1467	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	c.1351_splice	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520661	0.64747	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	.	.	.	4.83	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6768	0.68986	0.0:0.1459:0.8541:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68602777	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.947000	0.87758	2.225000	0.72522	0.563000	0.77884	.		0.657	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	5	57	0	0	0	0.001984	0	5	57				
TPCN2	219931	broad.mit.edu	37	11	68851461	68851461	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68851461C>T	ENST00000294309.3	+	19	1839	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron|MIR3164_ENST00000581178.1_RNA	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	580					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCAGAACATGCGTGCGTTTGG	0.662																																							uc001oos.2		NA																	0					0						c.(1738-1740)CGT>TGT		two pore segment channel 2							207.0	154.0	172.0					11																	68851461		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68851461C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1738C>T	11.37:g.68851461C>T	ENSP00000294309:p.Arg580Cys					TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	p.R580C	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		19	1854	+			580			Cytoplasmic (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1738C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462365	0.43736	.	.	ENSG00000162341	ENST00000356782;ENST00000294309	D	0.98437	-4.93	3.76	1.3	0.21679	Ion transport (1);	0.251786	0.30356	N	0.009813	D	0.98124	0.9381	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.97442	1.0022	10	0.66056	D	0.02	-22.3782	10.3823	0.44119	0.438:0.562:0.0:0.0	.	580	Q8NHX9	TPC2_HUMAN	C	437;580	ENSP00000294309:R580C	ENSP00000294309:R580C	R	+	1	0	TPCN2	68608037	0.997000	0.39634	0.982000	0.44146	0.477000	0.33069	0.594000	0.24014	0.672000	0.31204	0.462000	0.41574	CGT		0.662	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		14	42	0	0	0	0.00499	0	14	42				
FOLR2	2350	broad.mit.edu	37	11	71929695	71929695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:71929695G>T	ENST00000298223.6	+	2	254	c.67G>T	c.(67-69)Gac>Tac	p.D23Y	FOLR2_ENST00000449475.2_Missense_Mutation_p.D40Y|FOLR2_ENST00000454954.2_Intron	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	23					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CAGTGCCCAGGACAGGACTGA	0.552																																							uc009ytd.2		NA																	0				breast(2)|ovary(1)	3						c.(67-69)GAC>TAC		folate receptor 2 precursor	Folic Acid(DB00158)						122.0	80.0	95.0					11																	71929695		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71929695G>T	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.67G>T	11.37:g.71929695G>T	ENSP00000298223:p.Asp23Tyr					FOLR2_uc009yte.2_Missense_Mutation_p.D23Y|FOLR2_uc001ose.3_Missense_Mutation_p.D23Y|FOLR2_uc009ytf.2_Missense_Mutation_p.D23Y	p.D23Y	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN			2	236	+			23					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.67G>T	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965367	0.53507	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.83;-0.73;-0.52;-0.52;-0.51;-0.52;-0.09	4.65	-1.14	0.09741	.	0.734403	0.11957	U	0.513172	T	0.63117	0.2484	L	0.43152	1.355	0.09310	N	0.999994	P	0.47762	0.9	P	0.45753	0.492	T	0.56360	-0.7992	10	0.62326	D	0.03	.	1.4243	0.02320	0.2925:0.1444:0.4158:0.1474	.	23	P14207	FOLR2_HUMAN	Y	40;23;40;69;34;38;23;36;23	ENSP00000405638:D40Y;ENSP00000298223:D23Y;ENSP00000443307:D69Y;ENSP00000441547:D34Y;ENSP00000438568:D38Y;ENSP00000444794:D23Y;ENSP00000321957:D36Y;ENSP00000440337:D23Y	ENSP00000298223:D23Y	D	+	1	0	FOLR2	71607343	0.000000	0.05858	0.010000	0.14722	0.092000	0.18411	-0.080000	0.11339	0.118000	0.18165	0.655000	0.94253	GAC		0.552	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		4	18	1	0	0.000602214	0.000602	0.000654897	4	18				
UVRAG	7405	broad.mit.edu	37	11	75852056	75852056	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:75852056G>T	ENST00000356136.3	+	15	1940	c.1699G>T	c.(1699-1701)Gat>Tat	p.D567Y	UVRAG_ENST00000539288.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000533454.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000532130.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000538870.1_Missense_Mutation_p.D123Y|UVRAG_ENST00000528420.1_Missense_Mutation_p.D466Y|UVRAG_ENST00000531818.1_Missense_Mutation_p.D195Y	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	567					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.D567Y(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AAAAGGAGAGGATCTAGTTGG	0.527																																							uc001oxc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|lung(2)	6						c.(1699-1701)GAT>TAT		UV radiation resistance associated							47.0	47.0	47.0					11																	75852056		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852056G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1699G>T	11.37:g.75852056G>T	ENSP00000348455:p.Asp567Tyr					UVRAG_uc010rrw.1_Missense_Mutation_p.D466Y|UVRAG_uc001oxd.2_Missense_Mutation_p.D195Y|UVRAG_uc010rrx.1_Missense_Mutation_p.D195Y|UVRAG_uc010rry.1_Missense_Mutation_p.D123Y	p.D567Y	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	1940	+			567					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1699G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331416	0.24167	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.47528	0.84	5.6	3.73	0.42828	.	0.617424	0.16927	N	0.193855	T	0.45458	0.1343	L	0.27053	0.805	0.20074	N	0.999933	D;D	0.59767	0.986;0.976	P;P	0.53450	0.66;0.726	T	0.29792	-1.0000	10	0.87932	D	0	-7.8341	9.6579	0.39936	0.1593:0.0:0.8407:0.0	.	123;567	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	Y	567;466;195;195;195;195;123	ENSP00000348455:D567Y	ENSP00000348455:D567Y	D	+	1	0	UVRAG	75529704	0.129000	0.22400	0.022000	0.16811	0.062000	0.15995	2.829000	0.48128	0.736000	0.32559	-0.136000	0.14681	GAT		0.527	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		8	26	1	0	0.00448238	0.004482	0.0047387	8	26				
RAB38	23682	broad.mit.edu	37	11	87883020	87883020	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:87883020T>A	ENST00000243662.6	-	2	388	c.306A>T	c.(304-306)gcA>gcT	p.A102A		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTCCACTTTGCCACTGCTT	0.453																																							uc001pcj.1		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(304-306)GCA>GCT		RAB38							201.0	203.0	203.0					11																	87883020		2201	4299	6500	SO:0001819	synonymous_variant	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87883020T>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.306A>T	11.37:g.87883020T>A							p.A102A	NM_022337	NP_071732	P57729	RAB38_HUMAN			2	353	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	102					Q53XK7	Silent	SNP	ENST00000243662.6	37	c.306A>T	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.445576	0.25987	.	.	ENSG00000123892	ENST00000526372	.	.	.	5.38	-0.127	0.13510	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.9861	9.4864	0.38933	0.0:0.0674:0.4808:0.4519	.	.	.	.	X	101	.	.	K	-	1	0	RAB38	87522668	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.483000	0.22292	0.018000	0.15052	-0.332000	0.08345	AAA		0.453	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			63	103	0	0	0	0.00361	0	63	103				
TYR	7299	broad.mit.edu	37	11	88961112	88961112	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:88961112C>G	ENST00000263321.5	+	3	1660	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	386					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATCCTATCTTCCTTCTTCACC	0.408																																							uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1156-1158)TTC>TTG		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						179.0	148.0	159.0					11																	88961112		2201	4298	6499	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88961112C>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1158C>G	11.37:g.88961112C>G	ENSP00000263321:p.Phe386Leu						p.F386L	NM_000372	NP_000363	P14679	TYRO_HUMAN			3	1240	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	386			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1158C>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973450	0.74246	.	.	ENSG00000077498	ENST00000263321	D	0.99955	-8.84	5.38	-2.23	0.06930	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	H	0.96048	3.76	0.53688	D	0.999979	D	0.63046	0.992	D	0.76071	0.987	D	0.95827	0.8855	9	.	.	.	.	13.3206	0.60430	0.0:0.6242:0.0:0.3758	.	386	P14679	TYRO_HUMAN	L	386	ENSP00000263321:F386L	.	F	+	3	2	TYR	88600760	0.994000	0.37717	0.989000	0.46669	0.976000	0.68499	0.304000	0.19228	-0.444000	0.07170	-0.302000	0.09304	TTC		0.408	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		31	35	0	0	0	0.002445	0	31	35				
FOLH1B	219595	broad.mit.edu	37	11	89402584	89402584	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:89402584G>T	ENST00000532352.1	+	0	821							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAATGGGTGGCTCAGCACCA	0.388																																							uc001pda.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7-9)GGC>GTC		folate hydrolase 1B							89.0	78.0	82.0					11																	89402584		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89402584G>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89402584G>T							p.G3V	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			3	534	+			3						Missense_Mutation	SNP	ENST00000532352.1	37	c.8G>T																																																																																					0.388	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	34	1	0	0.00136819	0.001368	0.00147234	10	34				
FAT3	120114	broad.mit.edu	37	11	92532563	92532563	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:92532563C>G	ENST00000298047.6	+	9	6401	c.6384C>G	c.(6382-6384)ggC>ggG	p.G2128G	FAT3_ENST00000525166.1_Silent_p.G1978G|FAT3_ENST00000409404.2_Silent_p.G2128G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2128	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACTATGGCCACTTTGAAA	0.438										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(6382-6384)GGC>GGG		FAT tumor suppressor homolog 3							44.0	44.0	44.0					11																	92532563		1899	4126	6025	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532563C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6384C>G	11.37:g.92532563C>G		TCGA Ovarian(4;0.039)					p.G2128G	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6401	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2128			Cadherin 19.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.6384C>G																																																																																					0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	8	0	0	0	0.004672	0	3	8				
C11orf54	28970	broad.mit.edu	37	11	93492964	93492964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:93492964G>T	ENST00000331239.4	+	8	893	c.714G>T	c.(712-714)ttG>ttT	p.L238F	C11orf54_ENST00000354421.3_Missense_Mutation_p.L238F|C11orf54_ENST00000528288.1_Missense_Mutation_p.L188F|C11orf54_ENST00000528099.1_Missense_Mutation_p.L238F|C11orf54_ENST00000540113.1_Missense_Mutation_p.L219F			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	238					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATAAATGGTTGCATTTTTATG	0.338																																							uc009ywi.2		NA																	0					0						c.(712-714)TTG>TTT		hypothetical protein LOC28970							148.0	157.0	154.0					11																	93492964		2201	4298	6499	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93492964G>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.714G>T	11.37:g.93492964G>T	ENSP00000331209:p.Leu238Phe					C11orf54_uc001pee.1_Missense_Mutation_p.L179F|C11orf54_uc001pef.2_Missense_Mutation_p.L188F|C11orf54_uc001peg.2_Missense_Mutation_p.L238F|C11orf54_uc001peh.2_Missense_Mutation_p.L238F|C11orf54_uc001pei.2_Missense_Mutation_p.L219F|C11orf54_uc001pej.2_Missense_Mutation_p.L219F|C11orf54_uc001pek.2_Missense_Mutation_p.L127F	p.L238F	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			9	1045	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	238					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.714G>T		.	.	.	.	.	.	.	.	.	.	G	14.48	2.549081	0.45383	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000533154	.	.	.	5.68	-0.69	0.11309	Domain of unknown function DUF1907 (1);	0.000000	0.64402	D	0.000001	T	0.67449	0.2894	.	.	.	0.52099	D	0.99994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.63328	-0.6662	8	0.87932	D	0	-6.7961	2.5226	0.04683	0.3909:0.1536:0.3563:0.0992	.	238;188;238	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	F	188;238;238;238;219;219;179;219;127	.	ENSP00000331209:L238F	L	+	3	2	C11orf54	93132612	0.306000	0.24490	0.048000	0.18961	0.824000	0.46624	0.372000	0.20467	-0.412000	0.07519	-0.913000	0.02753	TTG		0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		28	75	1	0	3.65163e-15	0.00632	5.65591e-15	28	75				
PGR	5241	broad.mit.edu	37	11	100998878	100998878	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:100998878G>C	ENST00000325455.5	-	1	2377	c.924C>G	c.(922-924)atC>atG	p.I308M	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I308M	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	308	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGAGAGGCAGGATAGGCACGT	0.687																																					Pancreas(124;2271 2354 21954 22882)	Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(922-924)ATC>ATG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						14.0	16.0	15.0					11																	100998878		1994	3926	5920	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998878G>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.924C>G	11.37:g.100998878G>C	ENSP00000325120:p.Ile308Met					PGR_uc001pgi.2_Missense_Mutation_p.I308M|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.I308M	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1667	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	308			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.924C>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002964	0.54254	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.14766	2.48;2.48	4.37	-0.239	0.13050	.	0.454968	0.18944	N	0.126857	T	0.19248	0.0462	M	0.72118	2.19	0.28314	N	0.922523	P;P	0.44946	0.846;0.846	P;P	0.50659	0.647;0.647	T	0.09228	-1.0684	10	0.49607	T	0.09	.	3.1402	0.06453	0.1675:0.1352:0.558:0.1392	.	308;308	Q8TDS3;P06401	.;PRGR_HUMAN	M	308	ENSP00000325120:I308M;ENSP00000263463:I308M	ENSP00000263463:I308M	I	-	3	3	PGR	100504088	0.998000	0.40836	0.975000	0.42487	0.839000	0.47603	0.300000	0.19156	-0.401000	0.07644	0.561000	0.74099	ATC		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			6	14	0	0	0	0.001984	0	6	14				
DYNC2H1	79659	broad.mit.edu	37	11	103128397	103128397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:103128397G>T	ENST00000375735.2	+	69	10666	c.10522G>T	c.(10522-10524)Gat>Tat	p.D3508Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3515Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3508					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTATTTCTGATTTGTCCAA	0.438																																							uc001pho.2		NA																	0					0						c.(10522-10524)GAT>TAT		dynein, cytoplasmic 2, heavy chain 1							138.0	129.0	132.0					11																	103128397		1869	4102	5971	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103128397G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10522G>T	11.37:g.103128397G>T	ENSP00000364887:p.Asp3508Tyr					DYNC2H1_uc001phn.1_Missense_Mutation_p.D3515Y|DYNC2H1_uc009yxe.1_Intron	p.D3508Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	69	10666	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3508					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.10522G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952806	0.92660	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.54675	0.56;0.56	6.06	6.06	0.98353	.	0.101204	0.64402	D	0.000003	T	0.80454	0.4626	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.984;0.996	T	0.83218	-0.0070	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3508;3515	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	3508;3515	ENSP00000364887:D3508Y;ENSP00000381167:D3515Y	ENSP00000364887:D3508Y	D	+	1	0	DYNC2H1	102633607	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.750000	0.98875	2.882000	0.98803	0.655000	0.94253	GAT		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	16	1	0	0.00198382	0.001984	0.00212531	7	16				
TTC12	54970	broad.mit.edu	37	11	113235745	113235745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:113235745G>T	ENST00000529221.1	+	21	2110	c.2005G>T	c.(2005-2007)Ggc>Tgc	p.G669C	TTC12_ENST00000483239.2_Missense_Mutation_p.G675C|TTC12_ENST00000314756.3_Missense_Mutation_p.G669C|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	669										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGTGAACGCAGGCATTGCTCT	0.572																																							uc001pnu.2		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2005-2007)GGC>TGC		tetratricopeptide repeat domain 12							76.0	57.0	64.0					11																	113235745		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113235745G>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.2005G>T	11.37:g.113235745G>T	ENSP00000433757:p.Gly669Cys					TTC12_uc001pnv.2_Missense_Mutation_p.G675C|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.G519C	p.G669C	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2110	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	669					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.2005G>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816188	0.90790	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.46063	0.88;0.88;0.88	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	8.865740	0.01608	N	0.022414	T	0.72326	0.3446	M	0.76574	2.34	0.48632	D	0.999681	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.55617	-0.8113	10	0.72032	D	0.01	-25.306	19.2242	0.93812	0.0:0.0:1.0:0.0	.	669;669	A8K8G6;Q9H892	.;TTC12_HUMAN	C	669;669;675	ENSP00000433757:G669C;ENSP00000315160:G669C;ENSP00000419652:G675C	ENSP00000315160:G669C	G	+	1	0	TTC12	112740955	1.000000	0.71417	0.967000	0.41034	0.950000	0.60333	6.653000	0.74382	2.651000	0.90000	0.650000	0.86243	GGC		0.572	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		8	21	1	0	0.00307968	0.00308	0.003275	8	21				
NXPE1	120400	broad.mit.edu	37	11	114393655	114393655	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:114393655G>A	ENST00000424269.1	-	4	1053	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	NXPE1_ENST00000251921.2_Silent_p.L210L|NXPE1_ENST00000536271.1_Silent_p.L68L			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	352						extracellular region (GO:0005576)											GAGTCTCCCAGGAGGTAAATG	0.353																																							uc001ppa.2		NA																	0					0						c.(628-630)CTG>TTG		hypothetical protein LOC120400							101.0	87.0	92.0					11																	114393655		2201	4296	6497	SO:0001819	synonymous_variant	120400					extracellular region		g.chr11:114393655G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1054C>T	11.37:g.114393655G>A						FAM55A_uc010rxd.1_Silent_p.L59L	p.L210L	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	5	1045	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	352					B0YJ13	Silent	SNP	ENST00000424269.1	37	c.628C>T																																																																																					0.353	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		22	26	0	0	0	0.003954	0	22	26				
VPS11	55823	broad.mit.edu	37	11	118940016	118940016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:118940016G>T	ENST00000300793.6	+	3	337	c.295G>T	c.(295-297)Gca>Tca	p.A99S	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	100					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAATATTCTGGCATCTGTTGG	0.493																																							uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-300)GCA>TCA		vacuolar protein sorting 11							83.0	78.0	80.0					11																	118940016		1901	4132	6033	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118940016G>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.295G>T	11.37:g.118940016G>T	ENSP00000475301:p.Ala99Ser					VPS11_uc010ryy.1_5'UTR	p.A100S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	3	340	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	100					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.298G>T																																																																																					0.493	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		22	44	1	0	1.64293e-13	0.00333	2.43987e-13	22	44				
ABCG4	64137	broad.mit.edu	37	11	119027100	119027100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:119027100G>A	ENST00000449422.2	+	7	936	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ABCG4_ENST00000307417.3_Missense_Mutation_p.G250S|ABCG4_ENST00000531739.1_Missense_Mutation_p.G250S	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	250	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCACAGGGGGGCCGTACCAT	0.587																																							uc001pvs.2		NA																	0				ovary(2)	2						c.(748-750)GGC>AGC		ATP-binding cassette, subfamily G, member 4							149.0	141.0	144.0					11																	119027100		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027100G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.748G>A	11.37:g.119027100G>A	ENSP00000406874:p.Gly250Ser					ABCG4_uc009zar.2_Missense_Mutation_p.G250S	p.G250S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	1084	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	250			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.748G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.758899	0.96898	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73789	-0.78;-0.78;-0.78	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.87664	0.2536	10	0.87932	D	0	-18.6683	18.4192	0.90584	0.0:0.0:1.0:0.0	.	250	Q9H172	ABCG4_HUMAN	S	250	ENSP00000304111:G250S;ENSP00000406874:G250S;ENSP00000434318:G250S	ENSP00000304111:G250S	G	+	1	0	ABCG4	118532310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.575000	0.86900	0.650000	0.86243	GGC		0.587	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		42	104	0	0	0	0.007835	0	42	104				
OR8B12	219858	broad.mit.edu	37	11	124412749	124412749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:124412749C>G	ENST00000306842.2	-	1	826	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	268						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTCCCTTGCTCGAGGGGCAGG	0.438																																							uc010sam.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(802-804)GAG>CAG		olfactory receptor, family 8, subfamily B,							88.0	84.0	85.0					11																	124412749		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412749C>G		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.802G>C	11.37:g.124412749C>G	ENSP00000307159:p.Glu268Gln						p.E268Q	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	802	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	268			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.802G>C	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942810	0.34283	.	.	ENSG00000170953	ENST00000306842	T	0.00123	8.7	3.89	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	1.017120	0.07852	N	0.964798	T	0.00144	0.0004	L	0.35487	1.065	0.09310	N	1	P	0.36647	0.563	B	0.40477	0.33	T	0.28713	-1.0035	10	0.87932	D	0	.	7.5415	0.27742	0.0:0.6133:0.0:0.3867	.	268	Q8NGG6	OR8BC_HUMAN	Q	268	ENSP00000307159:E268Q	ENSP00000307159:E268Q	E	-	1	0	OR8B12	123917959	0.006000	0.16342	0.035000	0.18076	0.770000	0.43624	-0.229000	0.09098	0.233000	0.21120	0.650000	0.86243	GAG		0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			17	46	0	0	0	0.004007	0	17	46				
PKNOX2	63876	broad.mit.edu	37	11	125300009	125300009	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:125300009G>T	ENST00000298282.9	+	12	1435	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q324H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	388					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.Q388Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGCAGCAGCAGGGCGGTGCCC	0.622																																							uc001qbu.2		NA																	1	Substitution - coding silent(1)	p.Q388Q(1)	ovary(1)	ovary(3)	3						c.(1162-1164)CAG>CAT		PBX/knotted 1 homeobox 2							45.0	51.0	49.0					11																	125300009		1933	4133	6066	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125300009G>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1164G>T	11.37:g.125300009G>T	ENSP00000298282:p.Gln388His					PKNOX2_uc010saz.1_Missense_Mutation_p.Q359H|PKNOX2_uc010sba.1_Missense_Mutation_p.Q359H|PKNOX2_uc010sbb.1_Missense_Mutation_p.Q324H|PKNOX2_uc001qbv.2_Missense_Mutation_p.Q153H	p.Q388H	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1478	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	388					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1164G>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902581	0.33628	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84730	-1.88;-1.88;-1.89;-1.87	4.82	1.9	0.25705	.	0.072062	0.56097	D	0.000033	T	0.71247	0.3317	N	0.24115	0.695	0.50171	D	0.999854	B;B;B	0.18461	0.01;0.028;0.012	B;B;B	0.11329	0.006;0.004;0.004	T	0.59553	-0.7433	10	0.25751	T	0.34	-8.998	7.7443	0.28860	0.4021:0.0:0.5979:0.0	.	324;359;388	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	H	359;359;388;324	ENSP00000434732:Q359H;ENSP00000433971:Q359H;ENSP00000298282:Q388H;ENSP00000441470:Q324H	ENSP00000298282:Q388H	Q	+	3	2	PKNOX2	124805219	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.157000	0.42320	0.581000	0.29539	0.462000	0.41574	CAG		0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			18	36	1	0	2.48551e-13	0.00499	3.65724e-13	18	36				
FOXRED1	55572	broad.mit.edu	37	11	126144846	126144846	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:126144846G>A	ENST00000263578.5	+	5	635	c.561G>A	c.(559-561)ctG>ctA	p.L187L	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Silent_p.L17L|FOXRED1_ENST00000532125.1_Silent_p.L173L	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	187						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AAGTTTCTCTGATGTCTCCTG	0.527																																							uc001qdi.2		NA																	0					0						c.(559-561)CTG>CTA		FAD-dependent oxidoreductase domain containing							159.0	139.0	146.0					11																	126144846		2201	4298	6499	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126144846G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.561G>A	11.37:g.126144846G>A						FOXRED1_uc010sbn.1_Silent_p.L17L|FOXRED1_uc010sbo.1_Intron|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_Silent_p.L54L|FOXRED1_uc001qdj.2_Intron|FOXRED1_uc010sbr.1_Silent_p.L173L|FOXRED1_uc001qdk.2_Intron	p.L187L	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	5	608	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	187					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.561G>A	CCDS8471.1																																																																																				0.527	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		5	48	0	0	0	0.001984	0	5	48				
NFRKB	4798	broad.mit.edu	37	11	129745269	129745269	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:129745269C>G	ENST00000446488.3	-	17	1940	c.1837G>C	c.(1837-1839)Gat>Cat	p.D613H	NFRKB_ENST00000524746.1_Missense_Mutation_p.D613H|NFRKB_ENST00000524794.1_Missense_Mutation_p.D638H|NFRKB_ENST00000304521.5_Missense_Mutation_p.D613H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	613					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGGTGACATCTGGTGCAAGA	0.448																																							uc001qfi.2		NA																	0				ovary(3)	3						c.(1837-1839)GAT>CAT		nuclear factor related to kappaB binding protein							108.0	77.0	87.0					11																	129745269		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129745269C>G		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1837G>C	11.37:g.129745269C>G	ENSP00000400476:p.Asp613His					NFRKB_uc001qfg.2_Missense_Mutation_p.D638H|NFRKB_uc001qfh.2_Missense_Mutation_p.D636H|NFRKB_uc010sbw.1_Missense_Mutation_p.D623H|NFRKB_uc009zcr.2_5'Flank	p.D613H	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	18	2038	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	613					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1837G>C	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832574	0.71258	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	T	0.81084	-0.1093	9	0.87932	D	0	-17.3151	19.7667	0.96346	0.0:1.0:0.0:0.0	.	623;613;613;638	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	613;613;638;613;623	.	ENSP00000303800:D613H	D	-	1	0	NFRKB	129250479	1.000000	0.71417	0.958000	0.39756	0.926000	0.56050	7.487000	0.81328	2.681000	0.91329	0.655000	0.94253	GAT		0.448	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		5	9	0	0	0	0.001168	0	5	9				
APLP2	334	broad.mit.edu	37	11	129996639	129996639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:129996639G>T	ENST00000263574.5	+	8	1207	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	APLP2_ENST00000338167.5_Nonsense_Mutation_p.E379*|APLP2_ENST00000528499.1_Nonsense_Mutation_p.E323*|APLP2_ENST00000543137.1_Nonsense_Mutation_p.E286*|APLP2_ENST00000345598.5_Nonsense_Mutation_p.E150*|APLP2_ENST00000278756.7_Nonsense_Mutation_p.E389*|APLP2_ENST00000539648.1_Nonsense_Mutation_p.E167*	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	379					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGTATTTCGAGACCTCTGC	0.483																																							uc010sby.1		NA																	0				ovary(3)	3						c.(1135-1137)GAG>TAG		amyloid beta (A4) precursor-like protein 2							198.0	184.0	188.0					11																	129996639		2201	4297	6498	SO:0001587	stop_gained	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129996639G>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1135G>T	11.37:g.129996639G>T	ENSP00000263574:p.Glu379*					APLP2_uc001qfp.2_Nonsense_Mutation_p.E379*|APLP2_uc001qfq.2_Nonsense_Mutation_p.E323*|APLP2_uc010sbz.1_Nonsense_Mutation_p.E167*|APLP2_uc001qfr.2_Nonsense_Mutation_p.E145*|APLP2_uc001qfs.2_Nonsense_Mutation_p.E150*|APLP2_uc001qfv.2_Nonsense_Mutation_p.E270*	p.E379*	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	8	1292	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	379			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Nonsense_Mutation	SNP	ENST00000263574.5	37	c.1135G>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	38	7.157613	0.98103	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.1695	18.1383	0.89630	0.0:0.0:1.0:0.0	.	.	.	.	X	323;167;379;150;379;389;286	.	ENSP00000263574:E379X	E	+	1	0	APLP2	129501849	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.415000	0.97375	2.533000	0.85409	0.561000	0.74099	GAG		0.483	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		70	151	1	0	1.74474e-33	0.00361	3.27594e-33	70	151				
SNX19	399979	broad.mit.edu	37	11	130784380	130784380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:130784380C>A	ENST00000265909.4	-	1	2024	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.K485N|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	485					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGTGAGATCCTTCTCTAAGC	0.537																																							uc001qgk.3		NA																	0				ovary(2)|lung(2)	4						c.(1453-1455)AAG>AAT		sorting nexin 19							118.0	104.0	109.0					11																	130784380		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784380C>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1455G>T	11.37:g.130784380C>A	ENSP00000265909:p.Lys485Asn					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.K485N|SNX19_uc009zcx.1_Intron	p.K485N	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	2003	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	485					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1455G>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841095	0.51057	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.22539	2.38;1.95	5.63	0.54	0.17163	.	0.520891	0.21539	N	0.072933	T	0.33294	0.0858	M	0.65975	2.015	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.56278	0.795;0.795	T	0.03910	-1.0993	10	0.48119	T	0.1	-29.3159	10.2895	0.43588	0.0:0.5292:0.0:0.4708	.	485;485	E9PKB9;Q92543	.;SNX19_HUMAN	N	485	ENSP00000265909:K485N;ENSP00000435390:K485N	ENSP00000265909:K485N	K	-	3	2	SNX19	130289590	0.958000	0.32768	0.962000	0.40283	0.731000	0.41821	0.197000	0.17197	-0.145000	0.11294	0.650000	0.86243	AAG		0.537	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		25	57	1	0	9.57634e-11	0.00333	1.30768e-10	25	57				
CCDC77	84318	broad.mit.edu	37	12	547537	547537	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:547537C>T	ENST00000239830.4	+	10	1037	c.858C>T	c.(856-858)acC>acT	p.T286T	CCDC77_ENST00000540180.1_Silent_p.T254T|CCDC77_ENST00000412006.2_Silent_p.T254T|CCDC77_ENST00000422000.1_Silent_p.T254T	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	286						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGAGAGCACCAAAGATTTTC	0.393																																							uc001qig.2		NA																	0				ovary(1)	1						c.(856-858)ACC>ACT		coiled-coil domain containing 77 isoform a							85.0	85.0	85.0					12																	547537		2203	4300	6503	SO:0001819	synonymous_variant	84318					centrosome		g.chr12:547537C>T	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.858C>T	12.37:g.547537C>T						CCDC77_uc009zdk.2_Silent_p.T254T|CCDC77_uc010sdp.1_Silent_p.T254T|CCDC77_uc010sdq.1_Silent_p.T254T	p.T286T	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		10	1038	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		286			Potential.		B4DDE8	Silent	SNP	ENST00000239830.4	37	c.858C>T	CCDS8503.1																																																																																				0.393	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		23	35	0	0	0	0.004656	0	23	35				
RAD51AP1	10635	broad.mit.edu	37	12	4657984	4657984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:4657984G>C	ENST00000544927.1	+	6	548	c.538G>C	c.(538-540)Gaa>Caa	p.E180Q	RAD51AP1_ENST00000228843.9_Missense_Mutation_p.E197Q|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.E62Q|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E197Q|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.E180Q					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TAATGACACTGAACCAGACTT	0.408																																							uc001qmw.2		NA																	0					0						c.(589-591)GAA>CAA		RAD51 associated protein 1 isoform a							169.0	171.0	170.0					12																	4657984		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4657984G>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.538G>C	12.37:g.4657984G>C	ENSP00000446296:p.Glu180Gln					RAD51AP1_uc001qmu.2_Missense_Mutation_p.E180Q|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E143Q|RAD51AP1_uc010sep.1_Missense_Mutation_p.E62Q|RAD51AP1_uc010seq.1_Missense_Mutation_p.E62Q|RAD51AP1_uc009zeg.2_5'Flank	p.E197Q	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		7	745	+			197						Missense_Mutation	SNP	ENST00000544927.1	37	c.589G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.627489|1.627489	0.28978|0.28978	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36;1.36|.	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	0.165679|.	0.52532|.	D|.	0.000076|.	T|.	0.55353|.	0.1915|.	M|M	0.72894|0.72894	2.215|2.215	0.20196|0.20196	N|N	0.999929|0.999929	P;D;D;D|.	0.61080|.	0.873;0.989;0.989;0.959|.	P;P;D;P|.	0.64776|.	0.466;0.904;0.929;0.564|.	T|.	0.49273|.	-0.8957|.	10|.	0.39692|.	T|.	0.17|.	-16.1942|-16.1942	9.5758|9.5758	0.39457|0.39457	0.0941:0.0:0.9059:0.0|0.0941:0.0:0.9059:0.0	.|.	62;197;197;180|.	B4DUS5;Q96B01;A8K313;Q96B01-2|.	.;R51A1_HUMAN;.;.|.	Q|S	197;62;197;180;180|174	ENSP00000323750:E197Q;ENSP00000439960:E62Q;ENSP00000228843:E197Q;ENSP00000309479:E180Q;ENSP00000446296:E180Q|.	ENSP00000228843:E197Q|.	E|X	+|+	1|2	0|2	RAD51AP1|RAD51AP1	4528245|4528245	0.987000|0.987000	0.35691|0.35691	0.081000|0.081000	0.20488|0.20488	0.100000|0.100000	0.18952|0.18952	3.274000|3.274000	0.51631|0.51631	1.464000|1.464000	0.47987|0.47987	0.557000|0.557000	0.71058|0.71058	GAA|TGA		0.408	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		38	50	0	0	0	0.00623	0	38	50				
GALNT8	26290	broad.mit.edu	37	12	4873214	4873214	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:4873214G>C	ENST00000252318.2	+	9	1930		c.e9+1			NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGCTCACAGGTATCTTCCAC	0.522																																					Colon(108;631 1558 7270 20097 39846)	Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.e9+1		polypeptide N-acetylgalactosaminyltransferase 8							153.0	133.0	140.0					12																	4873214		2203	4300	6503	SO:0001630	splice_region_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4873214G>C	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1593+1G>C	12.37:g.4873214G>C							p.Q531_splice	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			9	1685	+								B2RU02	Splice_Site	SNP	ENST00000252318.2	37	c.1593_splice	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956059	0.34471	.	.	ENSG00000130035	ENST00000252318;ENST00000542998;ENST00000535354	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5918	0.68371	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT8	4743475	1.000000	0.71417	0.996000	0.52242	0.290000	0.27261	8.945000	0.92985	2.292000	0.77174	0.655000	0.94253	.		0.522	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	Intron	10	46	0	0	0	0.008291	0	10	46				
GNB3	2784	broad.mit.edu	37	12	6953059	6953059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:6953059G>T	ENST00000229264.3	+	9	1021	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	GNB3_ENST00000435982.2_Missense_Mutation_p.A205S|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	206					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCCTGTGATGCCAGTGCCAA	0.582																																							uc001qrd.2		NA																	0					0						c.(616-618)GCC>TCC		guanine nucleotide-binding protein, beta-3							109.0	97.0	101.0					12																	6953059		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6953059G>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.616G>T	12.37:g.6953059G>T	ENSP00000229264:p.Ala206Ser					GNB3_uc001qrc.2_Missense_Mutation_p.A162S|GNB3_uc009zfe.2_Missense_Mutation_p.A205S	p.A206S	NM_002075	NP_002066	P16520	GBB3_HUMAN			9	1021	+			206			WD 4.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.616G>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663865	0.29515	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000435982	T;T;T	0.01258	5.09;5.09;5.09	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.149549	0.64402	D	0.000011	T	0.02012	0.0063	N	0.03999	-0.3	0.49687	D	0.999816	B;B	0.33777	0.019;0.425	B;P	0.47603	0.138;0.551	T	0.77427	-0.2592	10	0.22706	T	0.39	-16.0187	19.3249	0.94258	0.0:0.0:1.0:0.0	.	205;206	E9PCP0;P16520	.;GBB3_HUMAN	S	206;205;205	ENSP00000229264:A206S;ENSP00000442002:A205S;ENSP00000414734:A205S	ENSP00000229264:A206S	A	+	1	0	GNB3	6823320	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.074000	0.76791	2.567000	0.86603	0.561000	0.74099	GCC		0.582	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		30	50	1	0	8.88839e-20	0.002096	1.50612e-19	30	50				
CD163	9332	broad.mit.edu	37	12	7640054	7640054	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:7640054G>A	ENST00000359156.4	-	8	2153	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	CD163_ENST00000541972.1_Missense_Mutation_p.H639Y|CD163_ENST00000396620.3_Missense_Mutation_p.H684Y|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.H651Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	651	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAGTGCAGTGAAACATATGC	0.493																																							uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1951-1953)CAC>TAC		CD163 antigen isoform a							148.0	130.0	136.0					12																	7640054		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640054G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1951C>T	12.37:g.7640054G>A	ENSP00000352071:p.His651Tyr					CD163_uc001qta.3_Missense_Mutation_p.H651Y|CD163_uc009zfw.2_Missense_Mutation_p.H684Y	p.H651Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	2079	-			651			SRCR 6.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1951C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660004	0.29515	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.36	3.55	0.40652	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.069031	0.64402	N	0.000013	T	0.33147	0.0853	L	0.52759	1.655	0.30272	N	0.792188	B;B;B	0.19331	0.02;0.001;0.035	B;B;B	0.25291	0.059;0.003;0.036	T	0.33266	-0.9875	10	0.56958	D	0.05	.	10.3618	0.43998	0.162:0.0:0.838:0.0	.	684;651;651	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	651;639;684;651	ENSP00000352071:H651Y;ENSP00000444071:H639Y;ENSP00000379863:H684Y;ENSP00000403885:H651Y	ENSP00000352071:H651Y	H	-	1	0	CD163	7531321	0.000000	0.05858	0.991000	0.47740	0.977000	0.68977	-0.899000	0.04101	0.762000	0.33152	-0.137000	0.14449	CAC		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		12	67	0	0	0	0.000978	0	12	67				
DDX12P	440081	broad.mit.edu	37	12	9571526	9571526	+	IGR	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:9571526C>A								RP13-735L24.1 (21313 upstream) : SNORA75 (26127 downstream)																							ATGGCCCTGCCTGCATAGGAA	0.622																																							uc010sgs.1		NA																	0					0						c.e26-1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							9.0	14.0	13.0					12																	9571526		681	1579	2260	SO:0001628	intergenic_variant	440081							g.chr12:9571526C>A																													12.37:g.9571526C>A						DDX12_uc001qvx.3_Splice_Site_p.G68_splice|DDX12_uc001qvy.1_3'UTR	p.G846_splice	NM_004400	NP_004391					26	2732	-									Splice_Site	SNP		37	c.2537_splice																																																																																				0	0.622									12	11	1	0	4.36969e-10	0.001855	5.83435e-10	12	11				
KIAA1467	57613	broad.mit.edu	37	12	13208570	13208570	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13208570G>A	ENST00000197268.8	+	2	243	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	41						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)		TGCTTAACCTGCAGAAGAATG	0.507																																							uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(121-123)CTG>CTA		hypothetical protein LOC57613							77.0	77.0	77.0					12																	13208570		2203	4300	6503	SO:0001819	synonymous_variant	57613					integral to membrane		g.chr12:13208570G>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		ENST00000197268.8:c.123G>A	12.37:g.13208570G>A						KIAA1467_uc009zhx.1_RNA	p.L41L	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	146	+		Prostate(47;0.184)	41					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	c.123G>A	CCDS31750.1																																																																																				0.507	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		20	50	0	0	0	0.008871	0	20	50				
PIK3C2G	5288	broad.mit.edu	37	12	18650569	18650569	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:18650569G>T	ENST00000266497.5	+	20	2818	c.2780G>T	c.(2779-2781)cGt>cTt	p.R927L	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R927L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R968L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	927	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATGATCTTCGTCAGGATATG	0.363																																							uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2779-2781)CGT>CTT		phosphoinositide-3-kinase, class 2 gamma							102.0	97.0	99.0					12																	18650569		1845	4084	5929	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18650569G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2780G>T	12.37:g.18650569G>T	ENSP00000266497:p.Arg927Leu					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R968L|PIK3C2G_uc010sic.1_Missense_Mutation_p.R746L	p.R927L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			21	2896	+		Hepatocellular(102;0.194)	927			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2780G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705178	0.68615	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.87887	-2.31;-2.31;-2.31	4.04	4.04	0.47022	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.074816	0.53938	D	0.000051	D	0.95010	0.8385	M	0.94021	3.485	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.96166	0.9119	10	0.87932	D	0	-13.663	16.4701	0.84109	0.0:0.0:1.0:0.0	.	967;968;927	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	927;927;968	ENSP00000404845:R927L;ENSP00000266497:R927L;ENSP00000445381:R968L	ENSP00000266497:R927L	R	+	2	0	PIK3C2G	18541836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.507000	0.66999	2.544000	0.85801	0.563000	0.77884	CGT		0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		15	29	1	0	5.3912e-06	0.006122	6.29483e-06	15	29				
PDE3A	5139	broad.mit.edu	37	12	20807013	20807013	+	Missense_Mutation	SNP	G	G	A	rs374362204		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:20807013G>A	ENST00000359062.3	+	15	3098	c.3058G>A	c.(3058-3060)Gga>Aga	p.G1020R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1020	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGATTCAGCAGGACTAATGCC	0.507																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3058-3060)GGA>AGA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						120.0	114.0	116.0					12																	20807013		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807013G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3058G>A	12.37:g.20807013G>A	ENSP00000351957:p.Gly1020Arg						p.G1020R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3080	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1020			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3058G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390527	0.82902	.	.	ENSG00000172572	ENST00000359062	T	0.75938	-0.98	5.31	5.31	0.75309	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.770201	0.12767	N	0.440891	D	0.83972	0.5370	L	0.48218	1.51	0.51233	D	0.999916	D	0.76494	0.999	D	0.77004	0.989	T	0.82631	-0.0362	10	0.54805	T	0.06	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	1020	Q14432	PDE3A_HUMAN	R	1020	ENSP00000351957:G1020R	ENSP00000351957:G1020R	G	+	1	0	PDE3A	20698280	1.000000	0.71417	0.958000	0.39756	0.980000	0.70556	5.284000	0.65627	2.657000	0.90304	0.655000	0.94253	GGA		0.507	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			18	42	0	0	0	0.006122	0	18	42				
PPFIBP1	8496	broad.mit.edu	37	12	27787932	27787932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:27787932G>T	ENST00000318304.8	+	4	437	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	PPFIBP1_ENST00000545334.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V52L|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.V52L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	52					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTGCACCTTGTGGAAGACCT	0.448																																							uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(154-156)GTG>TTG		PTPRF interacting protein binding protein 1							110.0	112.0	111.0					12																	27787932		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27787932G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.154G>T	12.37:g.27787932G>T	ENSP00000314724:p.Val52Leu					PPFIBP1_uc001rhy.1_Missense_Mutation_p.V52L|PPFIBP1_uc001rhz.1_Missense_Mutation_p.V52L|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.V52L|PPFIBP1_uc001ria.2_Missense_Mutation_p.V52L|PPFIBP1_uc001rid.1_Intron	p.V52L	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			4	531	+	Lung SC(9;0.0873)		52					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.154G>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193496	0.22037	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	4.53	4.53	0.55603	.	0.000000	0.29522	U	0.011903	T	0.05456	0.0144	N	0.01109	-1.01	0.33183	D	0.54979	B;B;B;B;B	0.29232	0.001;0.238;0.001;0.001;0.002	B;B;B;B;B	0.27715	0.005;0.082;0.008;0.003;0.006	T	0.20438	-1.0275	10	0.24483	T	0.36	-21.6432	10.7381	0.46137	0.0885:0.0:0.9115:0.0	.	52;52;52;52;52	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	L	52;52;52;52;52;52;52;52;65	ENSP00000445822:V52L;ENSP00000314724:V52L;ENSP00000444046:V52L;ENSP00000443442:V52L;ENSP00000228425:V52L	ENSP00000228425:V52L	V	+	1	0	PPFIBP1	27679199	0.972000	0.33761	0.998000	0.56505	0.986000	0.74619	1.772000	0.38552	2.349000	0.79799	0.306000	0.20318	GTG		0.448	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		27	61	1	0	3.73148e-12	0.007291	5.32751e-12	27	61				
MRPS35	60488	broad.mit.edu	37	12	27908184	27908184	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:27908184C>T	ENST00000081029.3	+	8	844	c.773C>T	c.(772-774)tCa>tTa	p.S258L	Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AATAGCTCATCAGAAAGAAAT	0.333																																							uc001rih.2		NA																	0					0						c.(772-774)TCA>TTA		mitochondrial ribosomal protein S35 precursor							80.0	89.0	86.0					12																	27908184		2202	4299	6501	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908184C>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.773C>T	12.37:g.27908184C>T	ENSP00000081029:p.Ser258Leu					MRPS35_uc001rii.2_3'UTR	p.S258L	NM_021821	NP_068593	P82673	RT35_HUMAN			8	821	+	Lung SC(9;0.0873)		258			Potential.		B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.773C>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188849	0.78789	.	.	ENSG00000061794	ENST00000081029;ENST00000321446	T	0.54071	0.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81360	-0.0968	10	0.59425	D	0.04	-26.1436	17.4659	0.87632	0.0:1.0:0.0:0.0	.	258	P82673	RT35_HUMAN	L	258;222	ENSP00000081029:S258L	ENSP00000081029:S258L	S	+	2	0	MRPS35	27799451	1.000000	0.71417	0.937000	0.37676	0.321000	0.28281	6.706000	0.74649	2.798000	0.96311	0.643000	0.83706	TCA		0.333	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		16	90	0	0	0	0.004007	0	16	90				
OVOS2	144203	broad.mit.edu	37	12	31288990	31288990	+	IGR	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:31288990G>T								RP11-551L14.1 (18585 upstream) : FAM60A (144527 downstream)																							AGAAAGGTTGGGAGACTTCTA	0.418																																							uc010sjy.1		NA																	0					NA						c.(2329-2331)TCC>TCA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							54.0	53.0	54.0					12																	31288990		1945	4133	6078	SO:0001628	intergenic_variant	0							g.chr12:31288990G>T																													12.37:g.31288990G>T							p.S777S							17	2331	-									Silent	SNP		37	c.2331C>A																																																																																				0	0.418									6	11	1	0	5.9392e-07	0.001168	7.17882e-07	6	11				
LRRK2	120892	broad.mit.edu	37	12	40697792	40697792	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:40697792A>T	ENST00000298910.7	+	27	3691	c.3633A>T	c.(3631-3633)ctA>ctT	p.L1211L	LRRK2_ENST00000343742.2_Silent_p.L1211L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1211					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTACCTACCAGGTCCCG	0.358																																							uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3631-3633)CTA>CTT		leucine-rich repeat kinase 2							91.0	92.0	91.0					12																	40697792		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697792A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3633A>T	12.37:g.40697792A>T						LRRK2_uc001rmh.1_Silent_p.L833L|LRRK2_uc009zjw.2_Silent_p.L49L|LRRK2_uc001rmi.2_Silent_p.L44L	p.L1211L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			27	3754	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1211			LRR 9.		A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.3633A>T	CCDS31774.1																																																																																				0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		35	49	0	0	0	0.00874	0	35	49				
PDZRN4	29951	broad.mit.edu	37	12	41585260	41585260	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:41585260G>C	ENST00000402685.2	+	2	657	c.649G>C	c.(649-651)Gat>Cat	p.D217H		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	217							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTTTTCTAGGATGGAGAGCA	0.303																																							uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(52-54)GAT>CAT		PDZ domain containing RING finger 4 isoform 2							89.0	82.0	84.0					12																	41585260		1568	3578	5146	SO:0001630	splice_region_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41585260G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.649-1G>C	12.37:g.41585260G>C							p.D18H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			2	120	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	217					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.52G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652496	0.29336	.	.	ENSG00000165966	ENST00000402685	T	0.52526	0.66	4.48	4.48	0.54585	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.37598	0.1009	L	0.29908	0.895	0.80722	D	1	B	0.22480	0.07	B	0.25759	0.063	T	0.13980	-1.0489	8	.	.	.	.	16.2123	0.82170	0.0:0.0:1.0:0.0	.	217	Q6ZMN7	PZRN4_HUMAN	H	217	ENSP00000384197:D217H	.	D	+	1	0	PDZRN4	39871527	1.000000	0.71417	0.998000	0.56505	0.390000	0.30446	6.122000	0.71608	2.422000	0.82143	0.563000	0.77884	GAT		0.303	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	Missense_Mutation	9	46	0	0	0	0.006214	0	9	46				
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:43777690G>C	ENST00000389420.3	-	30	4542	c.4543C>G	c.(4543-4545)Cag>Gag	p.Q1515E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507																																							uc010skx.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4543-4545)CAG>GAG		a disintegrin-like and metalloprotease with							158.0	125.0	136.0					12																	43777690		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777690G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4543C>G	12.37:g.43777690G>C	ENSP00000374071:p.Gln1515Glu						p.Q1515E	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4543	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1515			TSP type-1 12.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4543C>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153980	0.09185	.	.	ENSG00000173157	ENST00000389420	T	0.52983	0.64	4.25	-0.0478	0.13841	.	1.405700	0.04843	N	0.440846	T	0.24470	0.0593	N	0.12502	0.225	0.09310	N	1	B	0.21147	0.052	B	0.25759	0.063	T	0.18840	-1.0324	10	0.02654	T	1	.	4.073	0.09891	0.073:0.2605:0.3982:0.2683	.	1515	P59510	ATS20_HUMAN	E	1515	ENSP00000374071:Q1515E	ENSP00000374071:Q1515E	Q	-	1	0	ADAMTS20	42063957	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	0.491000	0.22419	-0.003000	0.14444	0.655000	0.94253	CAG		0.507	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		34	66	0	0	0	0.003271	0	34	66				
ADAMTS20	80070	broad.mit.edu	37	12	43945646	43945646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:43945646G>C	ENST00000389420.3	-	1	78	c.79C>G	c.(79-81)Cac>Gac	p.H27D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H27D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	27					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCCTGGGGTGGAAGTCAACT	0.647																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(79-81)CAC>GAC		a disintegrin-like and metalloprotease with							95.0	81.0	85.0					12																	43945646		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43945646G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.79C>G	12.37:g.43945646G>C	ENSP00000374071:p.His27Asp						p.H27D	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	1	79	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	27					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.79C>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516240	0.64634	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61510	0.27;0.1	2.1	2.1	0.27182	.	.	.	.	.	T	0.58119	0.2100	L	0.34521	1.04	0.80722	D	1	D	0.59357	0.985	P	0.57152	0.814	T	0.61559	-0.7038	9	0.56958	D	0.05	.	11.7726	0.51967	0.0:0.0:1.0:0.0	.	27	P59510	ATS20_HUMAN	D	27	ENSP00000374071:H27D;ENSP00000448341:H27D	ENSP00000374068:H27D	H	-	1	0	ADAMTS20	42231913	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.450000	0.73477	1.507000	0.48752	0.467000	0.42956	CAC		0.647	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		33	38	0	0	0	0.002836	0	33	38				
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:44913879G>T	ENST00000429094.2	-	19	2813	c.2309C>A	c.(2308-2310)aCc>aAc	p.T770N	NELL2_ENST00000395487.2_Missense_Mutation_p.T769N|NELL2_ENST00000551601.1_Missense_Mutation_p.T722N|NELL2_ENST00000452445.2_Missense_Mutation_p.T770N|NELL2_ENST00000333837.4_Missense_Mutation_p.T793N|NELL2_ENST00000549027.1_Missense_Mutation_p.T769N|NELL2_ENST00000437801.2_Missense_Mutation_p.T820N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2308-2310)ACC>AAC		NEL-like protein 2 isoform b precursor							129.0	108.0	115.0					12																	44913879		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913879G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2309C>A	12.37:g.44913879G>T	ENSP00000390680:p.Thr770Asn					NELL2_uc001rof.3_Missense_Mutation_p.T769N|NELL2_uc001roh.2_Missense_Mutation_p.T770N|NELL2_uc009zkd.2_Missense_Mutation_p.T722N|NELL2_uc010skz.1_Missense_Mutation_p.T820N|NELL2_uc010sla.1_Missense_Mutation_p.T793N	p.T770N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2904	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	770			VWFC 5.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2309C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335296	0.60853	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82167	-1.52;-1.51;-1.2;-1.51;-1.52;-1.47;-1.58	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82879	0.5133	L	0.57536	1.79	0.50313	D	0.999863	P;P;P;P;P	0.49783	0.487;0.616;0.928;0.883;0.474	B;B;P;B;B	0.50659	0.248;0.347;0.647;0.327;0.131	T	0.79281	-0.1868	10	0.12103	T	0.63	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	N	769;770;722;770;769;793;820	ENSP00000378866:T769N;ENSP00000390680:T770N;ENSP00000449332:T722N;ENSP00000394612:T770N;ENSP00000447927:T769N;ENSP00000327988:T793N;ENSP00000416341:T820N	ENSP00000327988:T793N	T	-	2	0	NELL2	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC		0.532	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		12	64	1	0	3.07112e-06	0.000978	3.6122e-06	12	64				
COL2A1	1280	broad.mit.edu	37	12	48377872	48377872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:48377872C>G	ENST00000380518.3	-	29	2103	c.1939G>C	c.(1939-1941)Gct>Cct	p.A647P	COL2A1_ENST00000337299.6_Missense_Mutation_p.A578P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	647	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTACTTACAGCAGGGCCAGGG	0.582																																							uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(1939-1941)GCT>CCT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						29.0	26.0	27.0					12																	48377872		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48377872C>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1939G>C	12.37:g.48377872C>G	ENSP00000369889:p.Ala647Pro					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A578P	p.A647P	NM_001844	NP_001835	P02458	CO2A1_HUMAN			29	2120	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	647			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1939G>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160489	0.38119	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94417	-3.42;-3.42	5.18	0.759	0.18438	.	0.278296	0.32884	N	0.005527	T	0.78355	0.4270	N	0.00864	-1.135	0.29108	N	0.881059	B;B	0.26809	0.16;0.099	B;B	0.36885	0.235;0.118	T	0.74662	-0.3590	10	0.02654	T	1	.	5.1175	0.14843	0.3889:0.4426:0.0:0.1685	.	578;647	P02458-1;P02458	.;CO2A1_HUMAN	P	647;578;578	ENSP00000369889:A647P;ENSP00000338213:A578P	ENSP00000338213:A578P	A	-	1	0	COL2A1	46664139	0.001000	0.12720	0.035000	0.18076	0.695000	0.40330	0.035000	0.13797	-0.027000	0.13873	-0.181000	0.13052	GCT		0.582	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		8	20	0	0	0	0.008291	0	8	20				
WNT10B	7480	broad.mit.edu	37	12	49361734	49361734	+	Missense_Mutation	SNP	G	G	T	rs536694627		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49361734G>T	ENST00000301061.4	-	4	1054	c.706C>A	c.(706-708)Cgc>Agc	p.R236S	WNT10B_ENST00000407467.1_Silent_p.G188G|WNT10B_ENST00000403957.1_Silent_p.G170G	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	236					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R236C(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CATACCTGGCGCCCCACCCTG	0.517																																							uc001rss.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	skin(4)|lung(3)	7						c.(706-708)CGC>AGC		wingless-type MMTV integration site family,							53.0	50.0	51.0					12																	49361734		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361734G>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.706C>A	12.37:g.49361734G>T	ENSP00000301061:p.Arg236Ser					WNT10B_uc001rst.2_Silent_p.G188G	p.R236S	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	1052	-			236					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.706C>A	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407571	0.62399	.	.	ENSG00000169884	ENST00000301061	T	0.81415	-1.49	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92440	0.5961	10	0.87932	D	0	.	10.9607	0.47383	0.0:0.0:0.7085:0.2915	.	236	O00744	WN10B_HUMAN	S	236	ENSP00000301061:R236S	ENSP00000301061:R236S	R	-	1	0	WNT10B	47648001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.598000	0.46223	2.494000	0.84150	0.561000	0.74099	CGC		0.517	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		16	28	1	0	2.62699e-14	0.003163	3.97911e-14	16	28				
WNT10B	7480	broad.mit.edu	37	12	49361936	49361936	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49361936G>T	ENST00000301061.4	-	4	852	c.504C>A	c.(502-504)tcC>tcA	p.S168S	WNT10B_ENST00000407467.1_Silent_p.S168S|WNT10B_ENST00000403957.1_Intron	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	168					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCTTGCCTCGGGACAGTGCCT	0.657																																							uc001rss.2		NA																	0				skin(4)|lung(3)	7						c.(502-504)TCC>TCA		wingless-type MMTV integration site family,							42.0	39.0	40.0					12																	49361936		2203	4299	6502	SO:0001819	synonymous_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361936G>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.504C>A	12.37:g.49361936G>T						WNT10B_uc001rst.2_Silent_p.S168S	p.S168S	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	850	-			168					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.504C>A	CCDS8775.1																																																																																				0.657	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		17	30	1	0	2.35188e-11	0.006122	3.27673e-11	17	30				
DDN	23109	broad.mit.edu	37	12	49390588	49390588	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49390588C>G	ENST00000421952.2	-	2	2092	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	691	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGACCTCCTCGGTTTGGCTT	0.562											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rsv.1		NA																	0				large_intestine(1)	1						c.(2071-2073)GAG>CAG		dendrin							107.0	106.0	106.0					12																	49390588		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49390588C>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.2071G>C	12.37:g.49390588C>G	ENSP00000390590:p.Glu691Gln		OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	uc001rsw.2_5'Flank	p.E691Q	NM_015086	NP_055901	O94850	DEND_HUMAN			2	2089	-			691			Interaction with CD2AP and NPHS1 (By similarity).			Missense_Mutation	SNP	ENST00000421952.2	37	c.2071G>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793098	0.50102	.	.	ENSG00000181418	ENST00000421952	T	0.58506	0.33	4.68	2.84	0.33178	.	0.457378	0.18539	N	0.138246	T	0.50531	0.1621	L	0.27053	0.805	0.09310	N	1	D	0.56746	0.977	P	0.52217	0.693	T	0.38585	-0.9654	10	0.66056	D	0.02	-20.3515	7.1511	0.25612	0.1696:0.7412:0.0:0.0891	.	691	O94850	DEND_HUMAN	Q	691	ENSP00000390590:E691Q	ENSP00000390590:E691Q	E	-	1	0	DDN	47676855	0.283000	0.24277	0.007000	0.13788	0.002000	0.02628	1.481000	0.35476	0.700000	0.31782	-0.311000	0.09066	GAG		0.562	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			11	94	0	0	0	0.00245	0	11	94				
DDN	23109	broad.mit.edu	37	12	49390664	49390664	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49390664A>C	ENST00000421952.2	-	2	2016	c.1995T>G	c.(1993-1995)agT>agG	p.S665R	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	665	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCTCTGGCGAACTGTTTCCAA	0.607											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rsv.1		NA																	0				large_intestine(1)	1						c.(1993-1995)AGT>AGG		dendrin							53.0	48.0	50.0					12																	49390664		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49390664A>C	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1995T>G	12.37:g.49390664A>C	ENSP00000390590:p.Ser665Arg		OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	uc001rsw.2_5'Flank	p.S665R	NM_015086	NP_055901	O94850	DEND_HUMAN			2	2013	-			665			Interaction with CD2AP and NPHS1 (By similarity).			Missense_Mutation	SNP	ENST00000421952.2	37	c.1995T>G	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	A	8.649	0.897900	0.17686	.	.	ENSG00000181418	ENST00000421952	T	0.42900	0.96	2.75	0.788	0.18601	.	1.971340	0.03179	N	0.171743	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.23716	0.048	T	0.28933	-1.0028	10	0.66056	D	0.02	-21.5827	4.575	0.12228	0.3552:0.0:0.6448:0.0	.	665	O94850	DEND_HUMAN	R	665	ENSP00000390590:S665R	ENSP00000390590:S665R	S	-	3	2	DDN	47676931	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.037000	0.13840	0.038000	0.15604	-0.464000	0.05259	AGT		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			3	39	0	0	0	0.004672	0	3	39				
KCNH3	23416	broad.mit.edu	37	12	49937805	49937805	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49937805G>A	ENST00000257981.6	+	6	1191	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	311					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCTGGATGTCATCGCAGC	0.597																																							uc001ruh.1		NA																	0					0						c.(931-933)GTC>ATC		potassium voltage-gated channel, subfamily H							204.0	162.0	176.0					12																	49937805		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937805G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.931G>A	12.37:g.49937805G>A	ENSP00000257981:p.Val311Ile					KCNH3_uc010smj.1_Missense_Mutation_p.V251I	p.V311I	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			6	1191	+			311			Helical; Name=Segment S3; (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.931G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230108	0.58777	.	.	ENSG00000135519	ENST00000257981	D	0.97066	-4.23	5.19	4.23	0.50019	Ion transport (1);	0.000000	0.41500	D	0.000870	D	0.93527	0.7934	N	0.25789	0.76	0.37170	D	0.903021	B	0.09022	0.002	B	0.25759	0.063	D	0.92188	0.5757	10	0.72032	D	0.01	.	11.7475	0.51828	0.0:0.2974:0.7026:0.0	.	311	Q9ULD8	KCNH3_HUMAN	I	311	ENSP00000257981:V311I	ENSP00000257981:V311I	V	+	1	0	KCNH3	48224072	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	3.234000	0.51320	2.605000	0.88082	0.561000	0.74099	GTC		0.597	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		44	96	0	0	0	0.00361	0	44	96				
CERS5	91012	broad.mit.edu	37	12	50528463	50528463	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:50528463C>G	ENST00000317551.6	-	9	1019	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CERS5_ENST00000422340.2_Missense_Mutation_p.E241Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	299	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)										TCCCAACTCTCAAAGAGGGTC	0.512																																							uc001rwd.3		NA																	0					0						c.(895-897)GAG>CAG		LAG1 homolog, ceramide synthase 5							108.0	106.0	107.0					12																	50528463		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.chr12:50528463C>G		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.895G>C	12.37:g.50528463C>G	ENSP00000325485:p.Glu299Gln					LASS5_uc001rwc.2_Missense_Mutation_p.E218Q|LASS5_uc001rwe.3_Missense_Mutation_p.E240Q|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_Missense_Mutation_p.E155Q	p.E299Q	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN			9	912	-			299			TLC.|Cytoplasmic (Potential).		B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.895G>C	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.895605|4.895605	0.91962|0.91962	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340|ENST00000553122;ENST00000550547	D;D;D|.	0.85013|.	-1.93;-1.93;-1.93|.	5.01|5.01	5.01|5.01	0.66863|0.66863	TRAM/LAG1/CLN8 homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78904|0.78904	0.4357|0.4357	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;P;P|.	0.76494|.	0.999;0.624;0.929|.	D;B;P|.	0.75484|.	0.986;0.439;0.729|.	T|T	0.79391|0.79391	-0.1823|-0.1823	10|5	0.33141|.	T|.	0.24|.	-16.3192|-16.3192	18.9053|18.9053	0.92458|0.92458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	241;299;218|.	B4DV54;Q8N5B7;F8W0U5|.	.;CERS5_HUMAN;.|.	Q|F	218;299;241|28;100	ENSP00000447556:E218Q;ENSP00000325485:E299Q;ENSP00000389050:E241Q|.	ENSP00000325485:E299Q|.	E|L	-|-	1|3	0|2	CERS5|CERS5	48814730|48814730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.493000|7.493000	0.81493|0.81493	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.512	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		37	101	0	0	0	0.005524	0	37	101				
POU6F1	5463	broad.mit.edu	37	12	51584375	51584375	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:51584375C>A	ENST00000389243.4	-	11	1500	c.561G>T	c.(559-561)cgG>cgT	p.R187R	POU6F1_ENST00000550824.1_Splice_Site_p.R187R|POU6F1_ENST00000333640.10_Splice_Site_p.R187R			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	187	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				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						GCTTCTCGAACCTGTGGGCAA	0.582																																							uc001rxy.2		NA																	0				ovary(1)	1						c.(559-561)CGG>CGT		POU class 6 homeobox 1							88.0	84.0	85.0					12																	51584375		2203	4300	6503	SO:0001630	splice_region_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584375C>A	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.561-1G>T	12.37:g.51584375C>A						POU6F1_uc001rxz.2_Silent_p.R187R|POU6F1_uc001rya.2_Silent_p.R187R	p.R187R	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	753	-			187			POU-specific.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.561G>T	CCDS31803.1																																																																																				0.582	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702	Silent	56	64	1	0	1.0442e-30	0.00361	1.94288e-30	56	64				
SCN8A	6334	broad.mit.edu	37	12	52201157	52201157	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52201157G>A	ENST00000354534.6	+	27	6065	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K	AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.E1922K|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1963					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GCGGGCAGAGGAAGGAAGAAG	0.453																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(5887-5889)GAA>AAA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						26.0	29.0	28.0					12																	52201157		1892	4115	6007	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52201157G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5887G>A	12.37:g.52201157G>A	ENSP00000346534:p.Glu1963Lys					uc001rzb.1_5'Flank	p.E1963K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	6065	+			1963					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5887G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	1.937	-0.444483	0.04604	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.95690	-3.78;-3.76	4.93	4.93	0.64822	.	0.133822	0.56097	D	0.000026	D	0.89090	0.6616	N	0.14661	0.345	0.43761	D	0.996276	B	0.19817	0.039	B	0.12156	0.007	D	0.84332	0.0522	10	0.02654	T	1	.	18.7196	0.91688	0.0:0.0:1.0:0.0	.	1963	Q9UQD0	SCN8A_HUMAN	K	1963;1922	ENSP00000346534:E1963K;ENSP00000440360:E1922K	ENSP00000346534:E1963K	E	+	1	0	SCN8A	50487424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.164000	0.31810	2.730000	0.93505	0.655000	0.94253	GAA		0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		9	19	0	0	0	0.004482	0	9	19				
ACVRL1	94	broad.mit.edu	37	12	52309904	52309904	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52309904C>A	ENST00000388922.4	+	8	1416	c.1133C>A	c.(1132-1134)cCc>cAc	p.P378H	ACVRL1_ENST00000550683.1_Missense_Mutation_p.P392H|ACVRL1_ENST00000419526.2_Missense_Mutation_p.P204H	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in HHT2; retained in the endoplasmic reticulum).|P -> S (in HHT2). {ECO:0000269|PubMed:20414677}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TACATGGCACCCGAGGTGCTG	0.627																																							uc001rzj.2		NA																	0				lung(2)	2	GRCh37	CM023319|CM050995	ACVRL1	M		c.(1132-1134)CCC>CAC		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						103.0	89.0	94.0					12																	52309904		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309904C>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1133C>A	12.37:g.52309904C>A	ENSP00000373574:p.Pro378His					ACVRL1_uc001rzk.2_Missense_Mutation_p.P378H|ACVRL1_uc010snm.1_Missense_Mutation_p.P204H	p.P378H	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1416	+			378		P -> L (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).	Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1133C>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635422	0.67130	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.99483	-5.99;-5.99;-5.99	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000445	D	0.99832	0.9924	H	0.99847	4.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	.	18.4442	0.90678	0.0:1.0:0.0:0.0	.	204;378	E7EN07;P37023	.;ACVL1_HUMAN	H	378;378;392;204;204	ENSP00000373574:P378H;ENSP00000447884:P392H;ENSP00000392492:P204H	ENSP00000267008:P378H	P	+	2	0	ACVRL1	50596171	1.000000	0.71417	0.630000	0.29268	0.196000	0.23810	7.644000	0.83416	2.763000	0.94921	0.563000	0.77884	CCC		0.627	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			42	65	1	0	8.20599e-20	0.002852	1.3954e-19	42	65				
KRT84	3890	broad.mit.edu	37	12	52777468	52777468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52777468G>A	ENST00000257951.3	-	2	727	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	221	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCCTCCGCAGGTTGGTGATG	0.547																																							uc001sah.1		NA																	0				skin(1)	1						c.(661-663)CTG>TTG		keratin, hair, basic, 4							74.0	70.0	71.0					12																	52777468		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52777468G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.661C>T	12.37:g.52777468G>A							p.L221L	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	709	-	all_hematologic(5;0.12)		221			Rod.|Coil 1B.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.661C>T	CCDS8825.1																																																																																				0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		12	42	0	0	0	0.00632	0	12	42				
KRT82	3888	broad.mit.edu	37	12	52799947	52799947	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52799947G>T	ENST00000257974.2	-	1	192	c.115C>A	c.(115-117)Cgg>Agg	p.R39R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	39	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCCCGGGCCGGCATGGCCCC	0.657																																							uc001sai.1		NA																	0				ovary(1)|skin(1)	2						c.(115-117)CGG>AGG		keratin 82							24.0	24.0	24.0					12																	52799947		2202	4299	6501	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799947G>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.115C>A	12.37:g.52799947G>T							p.R39R	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	230	-			39			Head.			Silent	SNP	ENST00000257974.2	37	c.115C>A	CCDS8826.1																																																																																				0.657	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		12	19	1	0	1.5842e-08	0.001855	2.03602e-08	12	19				
KRT72	140807	broad.mit.edu	37	12	52985332	52985332	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52985332G>C	ENST00000537672.2	-	5	889	c.879C>G	c.(877-879)gaC>gaG	p.D293E	KRT72_ENST00000354310.4_Missense_Mutation_p.D293E|KRT72_ENST00000398066.3_Missense_Mutation_p.D105E|KRT72_ENST00000293745.2_Missense_Mutation_p.D293E	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	293	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAATGATGCTGTCCAGGTCCA	0.597																																							uc001sar.2		NA																	0				ovary(5)|pancreas(1)	6						c.(877-879)GAC>GAG		keratin 72 isoform 1							165.0	131.0	142.0					12																	52985332		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52985332G>C	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.879C>G	12.37:g.52985332G>C	ENSP00000441160:p.Asp293Glu					KRT72_uc001saq.2_Missense_Mutation_p.D293E|KRT72_uc010sns.1_Missense_Mutation_p.D293E|KRT72_uc010snt.1_Missense_Mutation_p.D105E	p.D293E	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	5	965	-			293			Linker 12.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.879C>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491022	0.44249	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	T;T;D;T	0.88664	-1.06;-1.06;-2.41;-1.06	4.33	3.44	0.39384	Filament (1);	0.108327	0.40302	N	0.001125	D	0.86222	0.5881	M	0.70108	2.13	0.29367	N	0.86426	B;B	0.32324	0.364;0.167	B;B	0.30716	0.119;0.119	D	0.83795	0.0233	10	0.72032	D	0.01	.	9.0671	0.36469	0.2376:0.0:0.7624:0.0	.	293;293	B4DEI8;Q14CN4	.;K2C72_HUMAN	E	293;293;293;105	ENSP00000441160:D293E;ENSP00000293745:D293E;ENSP00000346269:D293E;ENSP00000446151:D105E	ENSP00000293745:D293E	D	-	3	2	KRT72	51271599	0.515000	0.26210	1.000000	0.80357	0.951000	0.60555	0.835000	0.27531	1.443000	0.47586	0.655000	0.94253	GAC		0.597	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		30	46	0	0	0	0.007291	0	30	46				
KRT79	338785	broad.mit.edu	37	12	53217717	53217717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:53217717C>A	ENST00000330553.5	-	6	1134	c.1100G>T	c.(1099-1101)cGc>cTc	p.R367L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	367	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGATAGTGCGGGTGAGCTC	0.607																																							uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(1099-1101)CGC>CTC		keratin 6L							79.0	63.0	69.0					12																	53217717		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217717C>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1100G>T	12.37:g.53217717C>A	ENSP00000328358:p.Arg367Leu					KRT79_uc001sba.2_Missense_Mutation_p.R138L	p.R367L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			6	1133	-			367			Rod.|Coil 2.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1100G>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817107	0.90790	.	.	ENSG00000185640	ENST00000330553	D	0.90197	-2.63	4.03	4.03	0.46877	Filament (1);	0.000000	0.47852	D	0.000214	D	0.96414	0.8830	M	0.93150	3.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.97340	0.9956	10	0.87932	D	0	.	16.388	0.83522	0.0:1.0:0.0:0.0	.	367	Q5XKE5	K2C79_HUMAN	L	367	ENSP00000328358:R367L	ENSP00000328358:R367L	R	-	2	0	KRT79	51503984	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.031000	0.76491	2.535000	0.85469	0.549000	0.68633	CGC		0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		15	32	1	0	6.94344e-10	0.006122	9.19416e-10	15	32				
NCKAP1L	3071	broad.mit.edu	37	12	54929927	54929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:54929927G>T	ENST00000293373.6	+	28	3050	c.2971G>T	c.(2971-2973)Gag>Tag	p.E991*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.E941*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	991					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCATCTCCTGAGGAGGAATA	0.448																																							uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2971-2973)GAG>TAG		NCK-associated protein 1-like							149.0	126.0	134.0					12																	54929927		2203	4300	6503	SO:0001587	stop_gained	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54929927G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2971G>T	12.37:g.54929927G>T	ENSP00000293373:p.Glu991*					NCKAP1L_uc010sox.1_Nonsense_Mutation_p.E533*|NCKAP1L_uc010soy.1_Nonsense_Mutation_p.E941*	p.E991*	NM_005337	NP_005328	P55160	NCKPL_HUMAN			28	3050	+			991					B4DUT5|Q52LW0	Nonsense_Mutation	SNP	ENST00000293373.6	37	c.2971G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	41	8.583697	0.98872	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	.	.	.	4.31	4.31	0.51392	.	0.115830	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.6499	14.6721	0.68951	0.0:0.0:1.0:0.0	.	.	.	.	X	991;941	.	ENSP00000293373:E991X	E	+	1	0	NCKAP1L	53216194	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.791000	0.91849	2.407000	0.81776	0.655000	0.94253	GAG		0.448	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		35	53	1	0	1.07637e-12	0.004878	1.55523e-12	35	53				
OR9K2	441639	broad.mit.edu	37	12	55523708	55523708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:55523708C>A	ENST00000305377.5	+	1	244	c.156C>A	c.(154-156)ctC>ctA	p.L52L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACATTCTCCTCTTCCTGCTAT	0.448																																							uc010spe.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(154-156)CTC>CTA		olfactory receptor, family 9, subfamily K,							175.0	166.0	169.0					12																	55523708		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523708C>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.156C>A	12.37:g.55523708C>A							p.L52L	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	156	+			52			Helical; Name=1; (Potential).		B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.156C>A	CCDS31814.1																																																																																				0.448	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			74	110	1	0	5.61366e-43	0.00361	1.07502e-42	74	110				
ITGA7	3679	broad.mit.edu	37	12	56096669	56096669	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56096669C>A	ENST00000555728.1	-	3	429	c.401G>T	c.(400-402)gGg>gTg	p.G134V	ITGA7_ENST00000394229.2_Missense_Mutation_p.G134V|ITGA7_ENST00000257879.6_Missense_Mutation_p.G134V|ITGA7_ENST00000347027.6_Missense_Mutation_p.G134V|ITGA7_ENST00000257880.7_Missense_Mutation_p.G134V|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000553804.1_Missense_Mutation_p.G134V|ITGA7_ENST00000394230.2_Missense_Mutation_p.G134V			Q13683	ITA7_HUMAN	integrin, alpha 7	134					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCTTGCCCCCAGGCCCCTG	0.512																																							uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(400-402)GGG>GTG		integrin alpha 7 isoform 1 precursor							112.0	97.0	102.0					12																	56096669		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56096669C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.401G>T	12.37:g.56096669C>A	ENSP00000452387:p.Gly134Val					ITGA7_uc001shg.2_Missense_Mutation_p.G134V|ITGA7_uc010sps.1_Intron|ITGA7_uc009znx.2_Missense_Mutation_p.G21V	p.G134V	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			3	621	-			134			FG-GAP 2.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.401G>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825018	0.90955	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	D	0.93884	0.8043	M	0.92649	3.33	0.80722	D	1	D;D;D	0.67145	0.983;0.996;0.991	P;D;P	0.75020	0.883;0.985;0.801	D	0.95199	0.8315	10	0.87932	D	0	.	16.115	0.81301	0.0:1.0:0.0:0.0	.	134;134;197	Q13683;Q13683-3;Q4LE35	ITA7_HUMAN;.;.	V	134	ENSP00000452120:G134V;ENSP00000257879:G134V;ENSP00000343009:G134V;ENSP00000257880:G134V;ENSP00000377777:G134V;ENSP00000377776:G134V;ENSP00000452387:G134V	ENSP00000257879:G134V	G	-	2	0	ITGA7	54382936	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.016000	0.70798	2.478000	0.83669	0.561000	0.74099	GGG		0.512	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		25	47	1	0	1.26454e-06	0.005443	1.51703e-06	25	47				
ESYT1	23344	broad.mit.edu	37	12	56531325	56531325	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56531325G>A	ENST00000394048.5	+	18	2245	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	ESYT1_ENST00000267113.4_Missense_Mutation_p.A671T|ESYT1_ENST00000541590.1_Missense_Mutation_p.A671T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	661	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGACCTGATTGCCAAAGACCG	0.547																																							uc001sjq.2		NA																	0				ovary(4)|skin(1)	5						c.(1981-1983)GCC>ACC		extended synaptotagmin-like protein 1							167.0	170.0	169.0					12																	56531325		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531325G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1981G>A	12.37:g.56531325G>A	ENSP00000377612:p.Ala661Thr					ESYT1_uc001sjr.2_Missense_Mutation_p.A671T	p.A661T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			18	2031	+			661			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1981G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368504	0.82463	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.70282	-0.47;-0.47;-0.47	5.22	4.32	0.51571	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.054712	0.64402	D	0.000001	T	0.80984	0.4729	M	0.87682	2.9	0.51233	D	0.999919	D;P	0.55800	0.973;0.645	P;P	0.55011	0.766;0.614	T	0.80774	-0.1232	10	0.16420	T	0.52	-11.7186	15.1776	0.72927	0.0:0.1419:0.8581:0.0	.	671;661	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	T	661;615;671;671	ENSP00000377612:A661T;ENSP00000267113:A671T;ENSP00000445952:A671T	ENSP00000267113:A671T	A	+	1	0	ESYT1	54817592	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.474000	0.45154	1.312000	0.45043	0.655000	0.94253	GCC		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		56	244	0	0	0	0.00361	0	56	244				
STAT2	6773	broad.mit.edu	37	12	56748643	56748643	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56748643C>T	ENST00000314128.4	-	7	575	c.552G>A	c.(550-552)aaG>aaA	p.K184K	STAT2_ENST00000557235.1_Silent_p.K180K|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Silent_p.K180K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	184					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGAGGGTGTCTTCCCTGGAT	0.522																																							uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(550-552)AAG>AAA		signal transducer and activator of transcription							135.0	134.0	135.0					12																	56748643		2203	4300	6503	SO:0001819	synonymous_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748643C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.552G>A	12.37:g.56748643C>T						STAT2_uc001sld.2_Silent_p.K180K|STAT2_uc010sqn.1_Silent_p.K180K	p.K184K	NM_005419	NP_005410	P52630	STAT2_HUMAN			7	630	-			184					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	c.552G>A	CCDS8917.1																																																																																				0.522	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		22	144	0	0	0	0.010504	0	22	144				
STAT2	6773	broad.mit.edu	37	12	56750051	56750052	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56750051_56750052CC>AA	ENST00000314128.4	-	3	172_173	c.149_150GG>TT	c.(148-150)gGG>gTT	p.G50V	STAT2_ENST00000557235.1_Missense_Mutation_p.G50V|STAT2_ENST00000418572.2_Missense_Mutation_p.G50V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	50					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AATCATCACTCCCAAGTGCAGC	0.505																																							uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(148-150)GGG>GTT		signal transducer and activator of transcription																																				SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56750051_56750052CC>AA	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.149_150delinsAA	12.37:g.56750051_56750052delinsAA	ENSP00000315768:p.Gly50Val					STAT2_uc001sld.2_Missense_Mutation_p.G50V|STAT2_uc010sqn.1_Missense_Mutation_p.G50V	p.G50V	NM_005419	NP_005410	P52630	STAT2_HUMAN			3	227_228	-			50					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	DNP	ENST00000314128.4	37	c.149_150GG>TT	CCDS8917.1																																																																																				0.505	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		18	41	0	0	0	0.004672	0	18	41				
SLC26A10	65012	broad.mit.edu	37	12	58018936	58018936	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:58018936G>A	ENST00000320442.4	+	11	1686	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	459	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCCAATGGTTGCAGGTGAGAT	0.512																																							uc001spe.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1375-1377)GCA>ACA		solute carrier family 26, member 10							269.0	253.0	258.0					12																	58018936		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58018936G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1375G>A	12.37:g.58018936G>A	ENSP00000320217:p.Ala459Thr					SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA	p.A459T	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			11	1686	+	Melanoma(17;0.122)		459			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.1375G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	0.267	-0.995310	0.02145	.	.	ENSG00000135502	ENST00000320442	T	0.60299	0.2	4.83	-6.98	0.01611	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.31136	0.0787	N	0.20685	0.6	0.20196	N	0.999921	B	0.12013	0.005	B	0.11329	0.006	T	0.22765	-1.0207	9	0.14656	T	0.56	.	5.7024	0.17889	0.5856:0.0:0.1938:0.2206	.	459	Q8NG04	S2610_HUMAN	T	459	ENSP00000320217:A459T	ENSP00000320217:A459T	A	+	1	0	SLC26A10	56305203	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-0.120000	0.10660	-1.352000	0.02194	-0.367000	0.07326	GCA		0.512	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			87	195	0	0	0	0.00361	0	87	195				
FAM19A2	338811	broad.mit.edu	37	12	62261137	62261137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:62261137A>T	ENST00000416284.3	-	2	1654	c.70T>A	c.(70-72)Tgg>Agg	p.W24R	FAM19A2_ENST00000551449.1_Missense_Mutation_p.W24R|FAM19A2_ENST00000551619.1_Missense_Mutation_p.W24R	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	24						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACTTTCCCCCACAAGGTTACA	0.303																																							uc001sqw.2		NA																	0				ovary(1)	1						c.(70-72)TGG>AGG		family with sequence similarity 19 (chemokine							115.0	117.0	117.0					12																	62261137		2203	4299	6502	SO:0001583	missense	338811					cytoplasm		g.chr12:62261137A>T	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.70T>A	12.37:g.62261137A>T	ENSP00000393987:p.Trp24Arg					FAM19A2_uc001sqx.2_Missense_Mutation_p.W24R|FAM19A2_uc001sqy.2_RNA	p.W24R	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	2	1583	-			24					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.70T>A	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966212	0.74131	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000551449;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.29908	0.895	0.33748	D	0.620289	D	0.56968	0.978	P	0.45881	0.496	T	0.54282	-0.8317	8	.	.	.	.	16.27	0.82612	1.0:0.0:0.0:0.0	.	24	Q8N3H0	F19A2_HUMAN	R	24;24;24;25;31;25	.	.	W	-	1	0	FAM19A2	60547404	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.719000	0.74718	2.248000	0.74166	0.533000	0.62120	TGG		0.303	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		47	75	0	0	0	0.00361	0	47	75				
CAND1	55832	broad.mit.edu	37	12	67696315	67696315	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:67696315A>T	ENST00000545606.1	+	8	1650	c.1213A>T	c.(1213-1215)Act>Tct	p.T405S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	405					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTGAAGCAAACTCGTCCTGT	0.418																																							uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1213-1215)ACT>TCT		TIP120 protein							165.0	139.0	148.0					12																	67696315		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67696315A>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1213A>T	12.37:g.67696315A>T	ENSP00000442318:p.Thr405Ser					CAND1_uc001sto.2_Missense_Mutation_p.T83S	p.T405S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	8	1650	+			405			HEAT 9.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1213A>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	34	5.338521	0.95783	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.28255	1.62;1.62	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.80183	2.485	0.80722	D	1	D;P	0.56035	0.974;0.61	D;B	0.67725	0.953;0.178	T	0.60156	-0.7318	9	.	.	.	-19.0008	16.1864	0.81955	1.0:0.0:0.0:0.0	.	405;405	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	S	405;405;247;113	ENSP00000442318:T405S;ENSP00000444089:T113S	.	T	+	1	0	CAND1	65982582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.281000	0.76405	0.528000	0.53228	ACT		0.418	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		69	26	0	0	0	0.00361	0	69	26				
CCT2	10576	broad.mit.edu	37	12	69991453	69991453	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:69991453C>G	ENST00000299300.6	+	12	1326	c.1138C>G	c.(1138-1140)Caa>Gaa	p.Q380E	CCT2_ENST00000543146.2_Missense_Mutation_p.Q333E|CCT2_ENST00000544368.2_Missense_Mutation_p.Q380E	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	380					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTGCCACTCAACAAATTTT	0.393																																							uc001svb.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1138-1140)CAA>GAA		chaperonin containing TCP1, subunit 2							92.0	87.0	89.0					12																	69991453		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991453C>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1138C>G	12.37:g.69991453C>G	ENSP00000299300:p.Gln380Glu					CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.Q380E|CCT2_uc010stl.1_Missense_Mutation_p.Q333E	p.Q380E	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		12	1232	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		380					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.1138C>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	7.407	0.633997	0.14322	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76709	-1.04;-1.04;-1.04	6.17	6.17	0.99709	.	0.049752	0.85682	D	0.000000	T	0.60064	0.2240	N	0.03154	-0.405	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.002;0.007	T	0.56595	-0.7953	9	.	.	.	-14.9559	20.8794	0.99867	0.0:1.0:0.0:0.0	.	380;380	F5GWF6;P78371	.;TCPB_HUMAN	E	380;380;333	ENSP00000299300:Q380E;ENSP00000441847:Q380E;ENSP00000445471:Q333E	.	Q	+	1	0	CCT2	68277720	1.000000	0.71417	0.995000	0.50966	0.548000	0.35241	5.730000	0.68546	2.941000	0.99782	0.655000	0.94253	CAA		0.393	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		17	78	0	0	0	0.006122	0	17	78				
ZFC3H1	196441	broad.mit.edu	37	12	72013875	72013875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:72013875G>A	ENST00000378743.3	-	26	5238	c.4880C>T	c.(4879-4881)tCt>tTt	p.S1627F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1627					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1627Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCAATAAAGATTTACAAAG	0.363																																							uc001swo.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(4879-4881)TCT>TTT		proline/serine-rich coiled-coil 2							63.0	57.0	59.0					12																	72013875		1847	4099	5946	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013875G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4880C>T	12.37:g.72013875G>A	ENSP00000368017:p.Ser1627Phe						p.S1627F	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			26	5239	-			1627			TPR 3.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4880C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762819	0.31228	.	.	ENSG00000133858	ENST00000378743	T	0.35048	1.33	5.56	-4.67	0.03319	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.537042	0.20991	N	0.082030	T	0.23289	0.0563	L	0.27053	0.805	0.09310	N	1	P	0.46395	0.877	P	0.45037	0.467	T	0.27331	-1.0077	10	0.54805	T	0.06	.	9.0566	0.36410	0.0:0.2011:0.2818:0.5171	.	1627	O60293	ZC3H1_HUMAN	F	1627	ENSP00000368017:S1627F	ENSP00000368017:S1627F	S	-	2	0	ZFC3H1	70300142	0.012000	0.17670	0.014000	0.15608	0.736000	0.42039	0.555000	0.23422	-0.776000	0.04578	-0.830000	0.03078	TCT		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		22	7	0	0	0	0.002299	0	22	7				
TRHDE	29953	broad.mit.edu	37	12	72771835	72771835	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:72771835A>G	ENST00000261180.4	+	3	1210	c.1114A>G	c.(1114-1116)Ata>Gta	p.I372V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	372					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTCTCCATATAACAAAGAG	0.328																																							uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1114-1116)ATA>GTA		thyrotropin-releasing hormone degrading enzyme							67.0	71.0	69.0					12																	72771835		2203	4298	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771835A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1114A>G	12.37:g.72771835A>G	ENSP00000261180:p.Ile372Val						p.I372V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			3	1144	+			372			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1114A>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	8.438	0.850102	0.17034	.	.	ENSG00000072657	ENST00000261180	T	0.02345	4.33	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	N	0.11131	0.1	0.58432	D	0.999995	P	0.36909	0.573	P	0.47827	0.558	T	0.67492	-0.5657	10	0.20046	T	0.44	.	15.7282	0.77780	1.0:0.0:0.0:0.0	.	372	Q9UKU6	TRHDE_HUMAN	V	372	ENSP00000261180:I372V	ENSP00000261180:I372V	I	+	1	0	TRHDE	71058102	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	8.736000	0.91554	2.137000	0.66172	0.477000	0.44152	ATA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		29	46	0	0	0	0.009535	0	29	46				
KCNC2	3747	broad.mit.edu	37	12	75601717	75601717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:75601717C>A	ENST00000549446.1	-	2	727	c.47G>T	c.(46-48)gGc>gTc	p.G16V	KCNC2_ENST00000350228.2_Missense_Mutation_p.G16V|KCNC2_ENST00000550433.1_Missense_Mutation_p.G16V|KCNC2_ENST00000393288.2_Missense_Mutation_p.G16V|KCNC2_ENST00000548513.1_Missense_Mutation_p.G16V|KCNC2_ENST00000298972.1_Missense_Mutation_p.G16V|KCNC2_ENST00000341669.3_Missense_Mutation_p.G16V|KCNC2_ENST00000540018.1_Missense_Mutation_p.G16V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	16					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTGCCGGGTGCCCCCGACATT	0.602																																							uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(46-48)GGC>GTC		Shaw-related voltage-gated potassium channel							51.0	43.0	46.0					12																	75601717		1990	3939	5929	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601717C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.47G>T	12.37:g.75601717C>A	ENSP00000449253:p.Gly16Val					KCNC2_uc009zry.2_Missense_Mutation_p.G16V|KCNC2_uc001sxe.2_Missense_Mutation_p.G16V|KCNC2_uc001sxf.2_Missense_Mutation_p.G16V|KCNC2_uc010stw.1_Missense_Mutation_p.G16V	p.G16V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	591	-			16			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.47G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.125556	0.77436	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.04	4.04	0.47022	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.256133	0.27362	N	0.019719	D	0.98807	0.9598	H	0.99444	4.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	0.992;0.992;0.997;0.987;1.0	D	0.99097	1.0842	10	0.87932	D	0	.	15.1377	0.72583	0.0:1.0:0.0:0.0	.	16;16;16;16;16	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	V	16	ENSP00000448301:G16V;ENSP00000449941:G16V;ENSP00000449253:G16V;ENSP00000340121:G16V;ENSP00000298972:G16V;ENSP00000319877:G16V;ENSP00000438423:G16V;ENSP00000376966:G16V	ENSP00000298972:G16V	G	-	2	0	KCNC2	73887984	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.405000	0.80007	2.075000	0.62263	0.558000	0.71614	GGC		0.602	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		33	66	1	0	6.84511e-11	0.003271	9.38275e-11	33	66				
E2F7	144455	broad.mit.edu	37	12	77421733	77421733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:77421733C>A	ENST00000322886.7	-	11	2305	c.2070G>T	c.(2068-2070)aaG>aaT	p.K690N	E2F7_ENST00000416496.2_Missense_Mutation_p.K690N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	690					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|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 involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTTTTGAAGGCTTTTCAACAT	0.433																																							uc001sym.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(2068-2070)AAG>AAT		E2F transcription factor 7							143.0	137.0	139.0					12																	77421733		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77421733C>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2070G>T	12.37:g.77421733C>A	ENSP00000323246:p.Lys690Asn					E2F7_uc009zse.2_Missense_Mutation_p.K177N	p.K690N	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			11	2306	-			690					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2070G>T	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281688	0.59758	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.50001	0.76;0.76;0.76	5.72	1.59	0.23543	.	0.192572	0.44097	D	0.000489	T	0.33789	0.0875	L	0.60455	1.87	0.22468	N	0.999075	B;B	0.27498	0.18;0.003	B;B	0.25884	0.064;0.004	T	0.12630	-1.0540	10	0.21014	T	0.42	-12.1542	2.2229	0.03977	0.1362:0.505:0.1323:0.2264	.	690;690	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	N	690;177;690;690	ENSP00000323246:K690N;ENSP00000393639:K690N;ENSP00000448245:K690N	ENSP00000323246:K690N	K	-	3	2	E2F7	75945864	0.960000	0.32886	0.486000	0.27416	0.975000	0.68041	0.048000	0.14078	0.334000	0.23590	0.563000	0.77884	AAG		0.433	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		40	20	1	0	1.07121e-22	0.006999	1.88836e-22	40	20				
E2F7	144455	broad.mit.edu	37	12	77449844	77449844	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:77449844A>C	ENST00000322886.7	-	3	395	c.160T>G	c.(160-162)Tta>Gta	p.L54V	E2F7_ENST00000416496.2_Missense_Mutation_p.L54V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	54					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|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 involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGCTTCGATAAATCAATTGGT	0.358																																							uc001sym.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(160-162)TTA>GTA		E2F transcription factor 7							70.0	72.0	71.0					12																	77449844		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77449844A>C	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.160T>G	12.37:g.77449844A>C	ENSP00000323246:p.Leu54Val					E2F7_uc001syn.2_Missense_Mutation_p.L54V	p.L54V	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			3	396	-			54					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.160T>G	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953529	0.53293	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.7	3.02	0.34903	.	0.408988	0.25590	N	0.029633	D	0.89733	0.6800	M	0.64997	1.995	0.37045	D	0.897339	D;D	0.69078	0.997;0.996	D;P	0.63957	0.92;0.883	D	0.89532	0.3786	10	0.54805	T	0.06	-13.6892	7.8613	0.29511	0.7938:0.0:0.2062:0.0	.	54;54	F8VSE7;Q96AV8	.;E2F7_HUMAN	V	54	ENSP00000323246:L54V;ENSP00000393639:L54V;ENSP00000448245:L54V;ENSP00000449033:L54V	ENSP00000323246:L54V	L	-	1	2	E2F7	75973975	0.997000	0.39634	0.995000	0.50966	0.874000	0.50279	1.563000	0.36364	0.785000	0.33685	0.528000	0.53228	TTA		0.358	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		28	40	0	0	0	0.00632	0	28	40				
NAV3	89795	broad.mit.edu	37	12	78522533	78522533	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:78522533G>T	ENST00000397909.2	+	18	4501	c.4328G>T	c.(4327-4329)tGg>tTg	p.W1443L	NAV3_ENST00000228327.6_Missense_Mutation_p.W1443L|NAV3_ENST00000266692.7_Missense_Mutation_p.W1266L|NAV3_ENST00000536525.2_Missense_Mutation_p.W1443L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1443	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCAAAGAGTGGTTGCGTTCT	0.502										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4327-4329)TGG>TTG		neuron navigator 3							137.0	136.0	136.0					12																	78522533		1989	4161	6150	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78522533G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4328G>T	12.37:g.78522533G>T	ENSP00000381007:p.Trp1443Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.W1443L|NAV3_uc010sub.1_Missense_Mutation_p.W929L|NAV3_uc009zsf.2_Missense_Mutation_p.W274L	p.W1443L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			18	4501	+			1443			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4328G>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.885060	0.91814	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.33654	1.42;1.41;1.44;1.4;2.44	5.81	5.81	0.92471	.	0.000000	0.38272	U	0.001742	T	0.60881	0.2303	M	0.68593	2.085	0.80722	D	1	D;D;D;B	0.89917	1.0;0.996;1.0;0.421	D;D;D;B	0.85130	0.98;0.991;0.997;0.322	T	0.54296	-0.8315	10	0.36615	T	0.2	-8.0056	20.0755	0.97742	0.0:0.0:1.0:0.0	.	1443;1266;1443;1443	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1443;1443;1443;1266;64;72	ENSP00000446132:W1443L;ENSP00000381007:W1443L;ENSP00000228327:W1443L;ENSP00000266692:W1266L;ENSP00000448303:W72L	ENSP00000228327:W1443L	W	+	2	0	NAV3	77046664	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.582000	0.98214	2.749000	0.94314	0.460000	0.39030	TGG		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		39	59	1	0	1.62957e-23	0.00874	2.91544e-23	39	59				
NAV3	89795	broad.mit.edu	37	12	78579401	78579401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:78579401G>T	ENST00000397909.2	+	31	5886	c.5713G>T	c.(5713-5715)Ggt>Tgt	p.G1905C	NAV3_ENST00000228327.6_Missense_Mutation_p.G1883C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1706C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1883C|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1905						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGATGATGCTGGTGATGCAAC	0.358										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5713-5715)GGT>TGT		neuron navigator 3							131.0	119.0	123.0					12																	78579401		1881	4113	5994	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78579401G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5713G>T	12.37:g.78579401G>T	ENSP00000381007:p.Gly1905Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G1883C|NAV3_uc010sub.1_Missense_Mutation_p.G1362C|NAV3_uc009zsf.2_Missense_Mutation_p.G714C	p.G1905C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			31	5886	+			1905					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5713G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.834196|2.834196	0.50951|0.50951	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.28666|.	1.68;1.65;1.67;1.6;2.47|.	5.81|5.81	3.77|3.77	0.43336|0.43336	.|.	0.451445|.	0.15547|.	U|.	0.256624|.	T|T	0.23133|0.23133	0.0559|0.0559	L|L	0.27053|0.27053	0.805|0.805	0.18873|0.18873	N|N	0.999989|0.999989	P;P;P;P|.	0.43885|.	0.626;0.64;0.744;0.82|.	B;B;B;B|.	0.43331|.	0.289;0.325;0.293;0.416|.	T|T	0.16129|0.16129	-1.0413|-1.0413	10|5	0.51188|.	T|.	0.08|.	-7.2201|-7.2201	2.1485|2.1485	0.03794|0.03794	0.3468:0.0:0.4126:0.2406|0.3468:0.0:0.4126:0.2406	.|.	1883;1706;1905;1883|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|L	1883;1905;1883;1706;497;505|777	ENSP00000446132:G1883C;ENSP00000381007:G1905C;ENSP00000228327:G1883C;ENSP00000266692:G1706C;ENSP00000448303:G505C|.	ENSP00000228327:G1883C|.	G|W	+|+	1|2	0|0	NAV3|NAV3	77103532|77103532	0.011000|0.011000	0.17503|0.17503	0.994000|0.994000	0.49952|0.49952	0.978000|0.978000	0.69477|0.69477	1.431000|1.431000	0.34925|0.34925	1.462000|1.462000	0.47948|0.47948	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.358	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		21	15	1	0	3.28513e-13	0.003954	4.81418e-13	21	15				
SLC6A15	55117	broad.mit.edu	37	12	85260945	85260945	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85260945A>T	ENST00000266682.5	-	10	2064	c.1523T>A	c.(1522-1524)aTt>aAt	p.I508N	SLC6A15_ENST00000552192.1_Missense_Mutation_p.I401N|SLC6A15_ENST00000309283.7_Missense_Mutation_p.I216N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	508					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATCAGGCCAATACAAAATGC	0.318																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1522-1524)ATT>AAT		solute carrier family 6, member 15 isoform 1							76.0	69.0	72.0					12																	85260945		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85260945A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1523T>A	12.37:g.85260945A>T	ENSP00000266682:p.Ile508Asn					SLC6A15_uc010sul.1_Missense_Mutation_p.I401N|SLC6A15_uc001szw.1_Missense_Mutation_p.I216N|uc001szx.2_5'Flank	p.I508N	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			10	2016	-			508			Helical; Name=9; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1523T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985151	0.74474	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192	T;T;T	0.76968	-1.06;-1.06;-1.06	5.47	4.32	0.51571	.	0.150792	0.64402	D	0.000014	D	0.87233	0.6126	M	0.92604	3.325	0.80722	D	1	P;B	0.36282	0.546;0.248	P;P	0.48368	0.575;0.467	D	0.88033	0.2776	10	0.87932	D	0	.	12.6904	0.56972	0.8622:0.1378:0.0:0.0	.	216;508	F8WJN6;Q9H2J7	.;S6A15_HUMAN	N	216;508;224;401	ENSP00000311645:I216N;ENSP00000266682:I508N;ENSP00000450145:I401N	ENSP00000266682:I508N	I	-	2	0	SLC6A15	83785076	0.975000	0.34042	0.155000	0.22561	0.993000	0.82548	5.961000	0.70356	0.886000	0.36113	0.477000	0.44152	ATT		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		30	12	0	0	0	0.008361	0	30	12				
SLC6A15	55117	broad.mit.edu	37	12	85285772	85285772	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85285772C>T	ENST00000266682.5	-	2	669	c.128G>A	c.(127-129)gGc>gAc	p.G43D	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.G43D|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	43					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTCCTGGCCATCAACAAT	0.403																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(127-129)GGC>GAC		solute carrier family 6, member 15 isoform 1							231.0	211.0	217.0					12																	85285772		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285772C>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.128G>A	12.37:g.85285772C>T	ENSP00000266682:p.Gly43Asp					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.G43D	p.G43D	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	621	-			43			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.128G>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	1.271	-0.612992	0.03690	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.72725	-0.68;-0.35;0.91	5.44	1.22	0.21188	.	0.396386	0.28398	N	0.015485	T	0.30135	0.0755	N	0.01352	-0.895	0.22457	N	0.999084	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16600	-1.0397	10	0.10636	T	0.68	.	1.3391	0.02150	0.4358:0.1208:0.0954:0.348	.	43;43	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	D	43	ENSP00000266682:G43D;ENSP00000390706:G43D;ENSP00000448308:G43D	ENSP00000266682:G43D	G	-	2	0	SLC6A15	83809903	0.996000	0.38824	0.277000	0.24703	0.079000	0.17450	1.357000	0.34090	0.455000	0.26910	-0.467000	0.05162	GGC		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		54	102	0	0	0	0.00361	0	54	102				
LRRIQ1	84125	broad.mit.edu	37	12	85521787	85521787	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85521787G>T	ENST00000393217.2	+	18	4246	c.4185G>T	c.(4183-4185)agG>agT	p.R1395S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1395	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACAGAGGGAGAAGGCTG	0.308																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4183-4185)AGG>AGT		leucine-rich repeats and IQ motif containing 1							105.0	106.0	106.0					12																	85521787		1815	4079	5894	SO:0001583	missense	84125							g.chr12:85521787G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4185G>T	12.37:g.85521787G>T	ENSP00000376910:p.Arg1395Ser						p.R1395S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	18	4296	+			1395			IQ 3.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4185G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562691	0.13498	.	.	ENSG00000133640	ENST00000393217	T	0.73047	-0.71	5.36	-1.61	0.08399	.	.	.	.	.	T	0.63236	0.2494	L	0.56199	1.76	0.22066	N	0.999385	P	0.43094	0.799	B	0.37508	0.252	T	0.55088	-0.8195	9	0.62326	D	0.03	.	13.5269	0.61601	0.5425:0.0:0.4575:0.0	.	1395	Q96JM4	LRIQ1_HUMAN	S	1395	ENSP00000376910:R1395S	ENSP00000376910:R1395S	R	+	3	2	LRRIQ1	84045918	0.546000	0.26457	0.667000	0.29798	0.320000	0.28249	-0.081000	0.11321	-0.890000	0.03945	-1.936000	0.00505	AGG		0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		18	57	1	0	8.10497e-08	0.010504	1.01718e-07	18	57				
SCYL2	55681	broad.mit.edu	37	12	100731216	100731216	+	Missense_Mutation	SNP	G	G	T	rs372052086		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:100731216G>T	ENST00000360820.2	+	17	2514	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	693					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACAAGAGCAGGCACAGAAGCT	0.373																																							uc001thn.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2077-2079)GCA>TCA		SCY1-like 2 protein							123.0	122.0	122.0					12																	100731216		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100731216G>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2077G>T	12.37:g.100731216G>T	ENSP00000354061:p.Ala693Ser					SCYL2_uc001thm.1_Missense_Mutation_p.A693S	p.A693S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			17	2127	+			693			Potential.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2077G>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124357	0.77436	.	.	ENSG00000136021	ENST00000360820	T	0.32023	1.47	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.16158	-1.0412	9	.	.	.	.	19.6946	0.96021	0.0:0.0:1.0:0.0	.	693	Q6P3W7	SCYL2_HUMAN	S	693	ENSP00000354061:A693S	.	A	+	1	0	SCYL2	99255347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.291000	0.96070	2.734000	0.93682	0.585000	0.79938	GCA		0.373	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		58	29	1	0	7.92265e-33	0.00361	1.48177e-32	58	29				
STAB2	55576	broad.mit.edu	37	12	104049297	104049297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:104049297C>A	ENST00000388887.2	+	15	1876	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CATTTTTGTTCCAAATAATGA	0.438																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(1672-1674)CCA>ACA		stabilin 2 precursor							180.0	153.0	162.0					12																	104049297		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104049297C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1672C>A	12.37:g.104049297C>A	ENSP00000373539:p.Pro558Thr						p.P558T	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			15	1858	+			558			Extracellular (Potential).|FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1672C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488717	0.84962	.	.	ENSG00000136011	ENST00000388887	D	0.99880	-7.46	5.77	5.77	0.91146	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.92219	3.285	0.51012	D	0.999904	D	0.89917	1.0	D	0.91635	0.999	D	0.96458	0.9339	10	0.87932	D	0	.	19.6065	0.95583	0.0:1.0:0.0:0.0	.	558	Q8WWQ8	STAB2_HUMAN	T	558	ENSP00000373539:P558T	ENSP00000373539:P558T	P	+	1	0	STAB2	102573427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.464000	0.66719	2.744000	0.94065	0.561000	0.74099	CCA		0.438	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			17	43	1	0	6.49762e-13	0.006122	9.4072e-13	17	43				
MTERF2	80298	broad.mit.edu	37	12	107371383	107371383	+	Silent	SNP	T	T	C	rs369252376		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:107371383T>C	ENST00000552029.1	-	2	3178	c.1110A>G	c.(1108-1110)aaA>aaG	p.K370K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.K370K|MTERFD3_ENST00000240050.4_Silent_p.K370K			Q49AM1	MTEF2_HUMAN		370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGGCCTTACTTTTTTGGCCT	0.373																																							uc001tme.1		NA																	0					0						c.(1108-1110)AAA>AAG		transcription termination factor-like protein							129.0	126.0	127.0					12																	107371383		2202	4300	6502	SO:0001819	synonymous_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371383T>C																												ENST00000552029.1:c.1110A>G	12.37:g.107371383T>C						MTERFD3_uc001tmf.1_Silent_p.K370K|MTERFD3_uc001tmg.1_Silent_p.K370K|MTERFD3_uc001tmh.1_Silent_p.K370K	p.K370K	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2929	-			370					Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	c.1110A>G	CCDS9111.1																																																																																				0.373	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			11	72	0	0	0	0.001368	0	11	72				
MTERF2	80298	broad.mit.edu	37	12	107371394	107371394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:107371394G>C	ENST00000552029.1	-	2	3167	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.Q367E|MTERFD3_ENST00000240050.4_Missense_Mutation_p.Q367E			Q49AM1	MTEF2_HUMAN		367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTTTTGGCCTGAATTTTGCCA	0.373																																							uc001tme.1		NA																	0					0						c.(1099-1101)CAG>GAG		transcription termination factor-like protein							141.0	137.0	138.0					12																	107371394		2202	4300	6502	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371394G>C																												ENST00000552029.1:c.1099C>G	12.37:g.107371394G>C	ENSP00000447651:p.Gln367Glu					MTERFD3_uc001tmf.1_Missense_Mutation_p.Q367E|MTERFD3_uc001tmg.1_Missense_Mutation_p.Q367E|MTERFD3_uc001tmh.1_Missense_Mutation_p.Q367E	p.Q367E	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2918	-			367					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.1099C>G	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099678	0.56183	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.12255	2.7;2.7;2.7	5.95	5.95	0.96441	.	0.255042	0.43110	D	0.000616	T	0.27205	0.0667	L	0.59436	1.845	0.45979	D	0.998797	D	0.60575	0.988	P	0.52343	0.696	T	0.00258	-1.1871	10	0.25106	T	0.35	-4.7284	20.3747	0.98911	0.0:0.0:1.0:0.0	.	367	Q49AM1	MTER3_HUMAN	E	367	ENSP00000376575:Q367E;ENSP00000240050:Q367E;ENSP00000447651:Q367E	ENSP00000240050:Q367E	Q	-	1	0	MTERFD3	105895524	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	6.233000	0.72320	2.817000	0.96982	0.563000	0.77884	CAG		0.373	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			11	76	0	0	0	0.001368	0	11	76				
FICD	11153	broad.mit.edu	37	12	108910758	108910758	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:108910758C>A	ENST00000552695.1	+	2	244	c.9C>A	c.(7-9)ctC>ctA	p.L3L	FICD_ENST00000361549.2_Silent_p.L3L|FICD_ENST00000552758.1_Silent_p.L3L	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	3					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AGATGATGCTCATACCAATGG	0.592																																							uc001tmx.1		NA																	0					0						c.(7-9)CTC>CTA		Huntingtin interacting protein E							79.0	74.0	76.0					12																	108910758		2203	4300	6503	SO:0001819	synonymous_variant	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108910758C>A	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.9C>A	12.37:g.108910758C>A							p.L3L	NM_007076	NP_009007	Q9BVA6	FICD_HUMAN			2	155	+			3					O75406	Silent	SNP	ENST00000552695.1	37	c.9C>A	CCDS9116.1																																																																																				0.592	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		16	43	1	0	9.16793e-09	0.00499	1.18993e-08	16	43				
ACACB	32	broad.mit.edu	37	12	109613743	109613743	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:109613743A>T	ENST00000338432.7	+	8	1343	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	ACACB_ENST00000377848.3_Silent_p.T408T|ACACB_ENST00000377854.5_Silent_p.T408T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	408	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CAGGCCTGACAGTGGAGTGGA	0.502																																							uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1222-1224)ACA>ACT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						83.0	80.0	81.0					12																	109613743		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109613743A>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1224A>T	12.37:g.109613743A>T						ACACB_uc001toc.2_Silent_p.T408T	p.T408T	NM_001093	NP_001084	O00763	ACACB_HUMAN			8	1343	+			408			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1224A>T	CCDS31898.1																																																																																				0.502	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	34	0	0	0	0.00308	0	7	34				
CUX2	23316	broad.mit.edu	37	12	111746128	111746128	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:111746128C>T	ENST00000261726.6	+	13	1303	c.1149C>T	c.(1147-1149)agC>agT	p.S383S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	383					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCTGCAGCCTCCCCCAGG	0.647																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1147-1149)AGC>AGT		cut-like 2							62.0	67.0	65.0					12																	111746128		2009	4190	6199	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111746128C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1149C>T	12.37:g.111746128C>T							p.S383S	NM_015267	NP_056082	O14529	CUX2_HUMAN			13	1302	+			383					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1149C>T	CCDS41837.1																																																																																				0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		48	89	0	0	0	0.00361	0	48	89				
HECTD4	283450	broad.mit.edu	37	12	112702999	112702999	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:112702999T>G	ENST00000430131.2	-	15	2448	c.1303A>C	c.(1303-1305)Aag>Cag	p.K435Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.K723Q|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.K685Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	435					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GAAAGGAGCTTTTGAAAATCA	0.323																																							uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(1303-1305)AAG>CAG		chromosome 12 open reading frame 51							97.0	105.0	102.0					12																	112702999		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112702999T>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1303A>C	12.37:g.112702999T>G	ENSP00000404379:p.Lys435Gln					C12orf51_uc010syk.1_Missense_Mutation_p.K258Q|C12orf51_uc001tts.2_Missense_Mutation_p.K258Q|C12orf51_uc001ttt.3_Missense_Mutation_p.K258Q	p.K435Q	NM_001109662	NP_001103132					9	1321	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1303A>C		.	.	.	.	.	.	.	.	.	.	T	20.1	3.940746	0.73557	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48201	0.82;0.82;0.82	5.74	5.74	0.90152	.	0.149903	0.64402	D	0.000016	T	0.31888	0.0811	N	0.08118	0	0.33727	D	0.617793	B;B;B	0.26635	0.081;0.155;0.081	B;B;B	0.25884	0.064;0.043;0.064	T	0.47674	-0.9099	10	0.87932	D	0	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	435;435;435	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	Q	685;435;723	ENSP00000366783:K685Q;ENSP00000404379:K435Q;ENSP00000449784:K723Q	ENSP00000366783:K685Q	K	-	1	0	C12orf51	111187382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.190000	0.69967	0.460000	0.39030	AAG		0.323	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		24	41	0	0	0	0.004656	0	24	41				
OAS3	4940	broad.mit.edu	37	12	113405356	113405356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:113405356G>C	ENST00000228928.7	+	13	3002	c.2823G>C	c.(2821-2823)aaG>aaC	p.K941N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	941	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCCTACCAAGCTGAAGAGCC	0.567																																							uc001tug.2		NA																	0				central_nervous_system(1)	1						c.(2821-2823)AAG>AAC		2'-5'oligoadenylate synthetase 3							48.0	52.0	51.0					12																	113405356		2135	4265	6400	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405356G>C	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2823G>C	12.37:g.113405356G>C	ENSP00000228928:p.Lys941Asn						p.K941N	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			13	2910	+			941			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2823G>C	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.430234|2.430234	0.43122|0.43122	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|.	0.54279|.	0.58|.	4.26|4.26	3.36|3.36	0.38483|0.38483	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.000000|.	0.35495|.	U|.	0.003173|.	T|T	0.72137|0.72137	0.3423|0.3423	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.72286|0.72286	-0.4338|-0.4338	10|5	0.87932|.	D|.	0|.	.|.	7.8359|7.8359	0.29369|0.29369	0.1142:0.0:0.8858:0.0|0.1142:0.0:0.8858:0.0	.|.	941|.	Q9Y6K5|.	OAS3_HUMAN|.	N|T	941;940|113	ENSP00000228928:K941N|.	ENSP00000228928:K941N|.	K|S	+|+	3|2	2|0	OAS3|OAS3	111889739|111889739	0.431000|0.431000	0.25546|0.25546	0.995000|0.995000	0.50966|0.50966	0.336000|0.336000	0.28762|0.28762	-0.031000|-0.031000	0.12287|0.12287	1.134000|1.134000	0.42165|0.42165	0.558000|0.558000	0.71614|0.71614	AAG|AGC		0.567	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	18	0	0	0	0.007413	0	15	18				
SDS	10993	broad.mit.edu	37	12	113837397	113837397	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:113837397G>T	ENST00000257549.4	-	2	239	c.117C>A	c.(115-117)tcC>tcA	p.S39S		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	39					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GGATCTTGAAGGAGCCGGAGG	0.627																																							uc001tvg.2		NA																	0				pancreas(1)	1						c.(115-117)TCC>TCA		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						26.0	23.0	24.0					12																	113837397		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113837397G>T	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.117C>A	12.37:g.113837397G>T						SDS_uc001tvh.1_Silent_p.S39S	p.S39S	NM_006843	NP_006834	P20132	SDHL_HUMAN			2	239	-			39					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.117C>A	CCDS9169.1																																																																																				0.627	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		11	10	1	0	1.61879e-10	0.001368	2.19183e-10	11	10				
TAOK3	51347	broad.mit.edu	37	12	118639195	118639195	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:118639195C>T	ENST00000392533.3	-	12	1383	c.893G>A	c.(892-894)cGt>cAt	p.R298H	TAOK3_ENST00000419821.2_Missense_Mutation_p.R298H	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	298					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTAGCTCACGAACTGCATC	0.438																																							uc001twx.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(892-894)CGT>CAT		TAO kinase 3							136.0	121.0	126.0					12																	118639195		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639195C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.893G>A	12.37:g.118639195C>T	ENSP00000376317:p.Arg298His					TAOK3_uc001tww.2_Missense_Mutation_p.R128H|TAOK3_uc001twy.3_Missense_Mutation_p.R298H	p.R298H	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			12	1188	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		298					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.893G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645879	0.96704	.	.	ENSG00000135090	ENST00000419821;ENST00000392533	D;D	0.85339	-1.97;-1.97	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	M	0.82630	2.6	0.80722	D	1	D	0.67145	0.996	P	0.49829	0.623	D	0.91827	0.5472	10	0.87932	D	0	.	18.0158	0.89239	0.0:1.0:0.0:0.0	.	298	Q9H2K8	TAOK3_HUMAN	H	298	ENSP00000416374:R298H;ENSP00000376317:R298H	ENSP00000376317:R298H	R	-	2	0	TAOK3	117123578	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.580000	0.82523	2.489000	0.83994	0.591000	0.81541	CGT		0.438	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		16	78	0	0	0	0.004007	0	16	78				
KNTC1	9735	broad.mit.edu	37	12	123087242	123087242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:123087242C>T	ENST00000333479.7	+	46	4957	c.4780C>T	c.(4780-4782)Cac>Tac	p.H1594Y	KNTC1_ENST00000537348.1_Missense_Mutation_p.H19Y|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1594					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCCTTTTCACCTGATATT	0.363																																							uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4780-4782)CAC>TAC		Rough Deal homolog, centromere/kinetochore							106.0	98.0	100.0					12																	123087242		1884	4116	6000	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087242C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4780C>T	12.37:g.123087242C>T	ENSP00000328236:p.His1594Tyr					KNTC1_uc010taf.1_Intron	p.H1594Y	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	46	4943	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1594					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4780C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867857	0.91587	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.32988	1.43;1.43	5.82	5.82	0.92795	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.56019	-0.8048	10	0.87932	D	0	-18.9169	20.1013	0.97878	0.0:1.0:0.0:0.0	.	1594	P50748	KNTC1_HUMAN	Y	1594;19	ENSP00000328236:H1594Y;ENSP00000443622:H19Y	ENSP00000328236:H1594Y	H	+	1	0	KNTC1	121653195	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.829000	0.75314	2.748000	0.94277	0.655000	0.94253	CAC		0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			10	41	0	0	0	0.001368	0	10	41				
DNAH10	196385	broad.mit.edu	37	12	124398903	124398903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124398903G>T	ENST00000409039.3	+	60	10051	c.10026G>T	c.(10024-10026)atG>atT	p.M3342I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3342					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)		ATGAGCTGATGCACCGGCGCG	0.597																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10024-10026)ATG>ATT		dynein, axonemal, heavy chain 10							44.0	49.0	48.0					12																	124398903		2066	4215	6281	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124398903G>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.10026G>T	12.37:g.124398903G>T	ENSP00000386770:p.Met3342Ile						p.M3342I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	60	10051	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3342					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10026G>T	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.67|11.67	1.709282|1.709282	0.30322|0.30322	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000540041|ENST00000409039	.|T	.|0.74002	.|-0.8	5.28|5.28	4.39|4.39	0.52855|0.52855	.|Dynein heavy chain, coiled coil stalk (1);	.|0.152205	.|0.56097	.|D	.|0.000025	T|T	0.60143|0.60143	0.2246|0.2246	N|N	0.24115|0.24115	0.695|0.695	0.28370|0.28370	N|N	0.920064|0.920064	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.55854|0.55854	-0.8075|-0.8075	5|10	.|0.49607	.|T	.|0.09	.|.	10.8399|10.8399	0.46708|0.46708	0.1651:0.0:0.8349:0.0|0.1651:0.0:0.8349:0.0	.|.	.|3342	.|Q8IVF4	.|DYH10_HUMAN	F|I	270|3342	.|ENSP00000386770:M3342I	.|ENSP00000386770:M3342I	C|M	+|+	2|3	0|0	DNAH10|DNAH10	122964856|122964856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.496000|0.496000	0.33645|0.33645	3.175000|3.175000	0.50855|0.50855	1.207000|1.207000	0.43291|0.43291	0.561000|0.561000	0.74099|0.74099	TGC|ATG		0.597	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			29	38	1	0	5.60225e-13	0.009535	8.16829e-13	29	38				
NCOR2	9612	broad.mit.edu	37	12	124827678	124827678	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124827678G>A	ENST00000405201.1	-	33	4809	c.4809C>T	c.(4807-4809)caC>caT	p.H1603H	NCOR2_ENST00000404121.2_Silent_p.H1164H|NCOR2_ENST00000356219.3_Silent_p.H1610H|NCOR2_ENST00000404621.1_Silent_p.H1593H|NCOR2_ENST00000397355.1_Silent_p.H1594H|NCOR2_ENST00000429285.2_Silent_p.H1593H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1611					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGTGGGTGGTGCTCGGGCA	0.657																																							uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(4831-4833)CAC>CAT		nuclear receptor co-repressor 2 isoform 2							48.0	59.0	55.0					12																	124827678		2184	4257	6441	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827678G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4809C>T	12.37:g.124827678G>A						NCOR2_uc010tay.1_Silent_p.H1610H|NCOR2_uc010taz.1_Silent_p.H1594H|NCOR2_uc010tbb.1_Silent_p.H1603H|NCOR2_uc010tbc.1_Silent_p.H1593H|NCOR2_uc010tax.1_5'Flank	p.H1611H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	33	4950	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1611					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.4833C>T	CCDS41858.2																																																																																				0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		15	40	0	0	0	0.00499	0	15	40				
NCOR2	9612	broad.mit.edu	37	12	124934381	124934381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124934381C>A	ENST00000405201.1	-	7	795	c.795G>T	c.(793-795)caG>caT	p.Q265H	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q265H|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q265H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	265	Interaction with SIN3A/B. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCATGATACTGCCGGGTGT	0.612																																							uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(793-795)CAG>CAT		nuclear receptor co-repressor 2 isoform 2							57.0	68.0	64.0					12																	124934381		2133	4259	6392	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124934381C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.795G>T	12.37:g.124934381C>A	ENSP00000384018:p.Gln265His					NCOR2_uc010tay.1_Missense_Mutation_p.Q265H|NCOR2_uc010taz.1_Missense_Mutation_p.Q265H|NCOR2_uc010tbb.1_Missense_Mutation_p.Q265H|NCOR2_uc010tbc.1_Missense_Mutation_p.Q265H|NCOR2_uc001ugj.1_Missense_Mutation_p.Q265H|NCOR2_uc001ugk.1_Missense_Mutation_p.Q265H	p.Q265H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	7	912	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		265			Interaction with SIN3A/B (By similarity).		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.795G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.534949|1.534949	0.27475|0.27475	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008|ENST00000542927	T;T;T;T;T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44|.	4.63|4.63	3.73|3.73	0.42828|0.42828	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.52025|0.52025	0.1709|0.1709	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.99;0.99;0.994|.	D;D;D|.	0.75484|.	0.969;0.969;0.986|.	T|T	0.43972|0.43972	-0.9358|-0.9358	10|5	0.66056|.	D|.	0.02|.	-34.2572|-34.2572	9.374|9.374	0.38272|0.38272	0.0:0.8973:0.0:0.1027|0.0:0.8973:0.0:0.1027	.|.	265;265;265|.	C9J0Q5;C9J239;C9JFD3|.	.;.;.|.	H|I	265;265;265;265;265;265;265;265;167|188	ENSP00000384018:Q265H;ENSP00000384202:Q265H;ENSP00000348551:Q265H;ENSP00000380513:Q265H;ENSP00000400281:Q265H;ENSP00000402808:Q265H;ENSP00000405367:Q265H;ENSP00000403034:Q167H|.	ENSP00000348551:Q265H|.	Q|S	-|-	3|2	2|0	NCOR2|NCOR2	123500334|123500334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	0.793000|0.793000	0.26944|0.26944	1.054000|1.054000	0.40438|0.40438	0.313000|0.313000	0.20887|0.20887	CAG|AGT		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		12	43	1	0	1.5842e-08	0.001855	2.03602e-08	12	43				
FZD10	11211	broad.mit.edu	37	12	130648391	130648391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:130648391G>T	ENST00000229030.4	+	1	1388	c.904G>T	c.(904-906)Gag>Tag	p.E302*	FZD10_ENST00000539839.1_Missense_Mutation_p.G269V|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	302					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGTCATCCAGGAGGGACTGGA	0.647																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(904-906)GAG>TAG		frizzled 10 precursor							70.0	69.0	69.0					12																	130648391		2203	4300	6503	SO:0001587	stop_gained	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648391G>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.904G>T	12.37:g.130648391G>T	ENSP00000229030:p.Glu302*					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.E302*	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1360	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.904G>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.672445|9.672445	0.99234|0.99234	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.78007	.|0.4216	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81831	.|-0.0752	.|5	0.72032|0.87932	D|D	0.01|0	.|.	17.99|17.99	0.89165|0.89165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	302|269	.|.	ENSP00000229030:E302X|ENSP00000438460:G269V	E|G	+|+	1|2	0|0	FZD10|FZD10	129214344|129214344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.643000|9.643000	0.98464|0.98464	2.256000|2.256000	0.74724|0.74724	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				41	53	1	0	7.63091e-17	0.007835	1.224e-16	41	53				
RIMBP2	23504	broad.mit.edu	37	12	130935883	130935883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:130935883G>T	ENST00000261655.4	-	5	473	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.Q12K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.Q12K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	104					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGCTCTCCTGACCTGGCCAC	0.557																																							uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(310-312)CAG>AAG		RIM-binding protein 2							43.0	41.0	42.0					12																	130935883		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130935883G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.310C>A	12.37:g.130935883G>T	ENSP00000261655:p.Gln104Lys					RIMBP2_uc001uim.2_Missense_Mutation_p.Q12K	p.Q104K	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	474	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	104					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.310C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	2.346	-0.350049	0.05173	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.18960	2.18;3.01;3.01	3.95	3.95	0.45737	.	0.854747	0.10652	N	0.649836	T	0.16471	0.0396	L	0.36672	1.1	0.21878	N	0.999495	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.23655	-1.0182	10	0.05833	T	0.94	-4.8017	14.1942	0.65659	0.0:0.0:1.0:0.0	.	12;104	O15034-2;O15034	.;RIMB2_HUMAN	K	104;12;12;12	ENSP00000261655:Q104K;ENSP00000440347:Q12K;ENSP00000439159:Q12K	ENSP00000261655:Q104K	Q	-	1	0	RIMBP2	129501836	1.000000	0.71417	0.963000	0.40424	0.102000	0.19082	3.436000	0.52856	1.756000	0.51951	0.561000	0.74099	CAG		0.557	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		15	33	1	0	7.93312e-07	0.00245	9.56485e-07	15	33				
SFSWAP	6433	broad.mit.edu	37	12	132249067	132249067	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:132249067A>T	ENST00000261674.4	+	12	1928	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SFSWAP_ENST00000541286.1_Missense_Mutation_p.N596I	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	596					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGGAAAAAAATCGTGTTAAG	0.408																																							uc001uja.1		NA																	0					0						c.(1786-1788)AAT>ATT		splicing factor, arginine/serine-rich 8							84.0	74.0	77.0					12																	132249067		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132249067A>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1787A>T	12.37:g.132249067A>T	ENSP00000261674:p.Asn596Ile					SFRS8_uc010tbn.1_Missense_Mutation_p.N596I|SFRS8_uc001ujb.1_Missense_Mutation_p.N389I	p.N596I	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	12	1927	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		596					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1787A>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512256	0.85389	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.25414	2.81;1.8;2.77	5.39	5.39	0.77823	.	0.040994	0.85682	D	0.000000	T	0.45756	0.1358	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.942	T	0.26744	-1.0094	10	0.36615	T	0.2	-39.0741	15.6957	0.77494	1.0:0.0:0.0:0.0	.	596;596	F5H6B8;Q12872	.;SFSWA_HUMAN	I	596;533;389;596	ENSP00000261674:N596I;ENSP00000443045:N389I;ENSP00000437738:N596I	ENSP00000261674:N596I	N	+	2	0	SFSWAP	130815020	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.317000	0.89987	2.170000	0.68504	0.459000	0.35465	AAT		0.408	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		6	76	0	0	0	0.001168	0	6	76				
ANKLE2	23141	broad.mit.edu	37	12	133312078	133312078	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:133312078G>C	ENST00000357997.5	-	9	1703	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	ANKLE2_ENST00000539605.1_Silent_p.L476L|ANKLE2_ENST00000337516.5_Silent_p.L538L|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	538					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GAGTTTTCCAGAGCTTGCGAA	0.517																																							uc001ukx.2		NA																	0					0						c.(1612-1614)CTC>CTG		ankyrin repeat and LEM domain containing 2							116.0	118.0	118.0					12																	133312078		1971	4163	6134	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133312078G>C	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1614C>G	12.37:g.133312078G>C						ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.L476L	p.L538L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	9	1681	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	538					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.1614C>G	CCDS41869.1																																																																																				0.517	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			55	125	0	0	0	0.00361	0	55	125				
GOLGA3	2802	broad.mit.edu	37	12	133373220	133373220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:133373220C>A	ENST00000450791.2	-	9	2188	c.2005G>T	c.(2005-2007)Gac>Tac	p.D669Y	GOLGA3_ENST00000204726.3_Missense_Mutation_p.D669Y|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D669Y|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D669Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D669Y			Q08378	GOGA3_HUMAN	golgin A3	669	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTGAAGGTCCTCCTCCACC	0.562																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2005-2007)GAC>TAC		Golgi autoantigen, golgin subfamily a, 3							263.0	254.0	257.0					12																	133373220		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373220C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2005G>T	12.37:g.133373220C>A	ENSP00000410378:p.Asp669Tyr					GOLGA3_uc001ula.1_Missense_Mutation_p.D669Y|GOLGA3_uc001ulb.2_Missense_Mutation_p.D669Y	p.D669Y	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	10	2564	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	669			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2005G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057151	0.93846	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.35048	1.77;1.77;1.77;1.33;1.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.53408	-0.8443	10	0.72032	D	0.01	.	19.5987	0.95551	0.0:1.0:0.0:0.0	.	669;669;669	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Y	669	ENSP00000204726:D669Y;ENSP00000410378:D669Y;ENSP00000409303:D669Y;ENSP00000442143:D669Y;ENSP00000442603:D669Y	ENSP00000204726:D669Y	D	-	1	0	GOLGA3	131883293	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	GAC		0.562	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		132	292	1	0	3.19997e-73	0.00361	6.21045e-73	132	292				
LATS2	26524	broad.mit.edu	37	13	21557801	21557801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:21557801C>A	ENST00000382592.4	-	5	2449	c.2044G>T	c.(2044-2046)Gtg>Ttg	p.V682L	LATS2_ENST00000542899.1_Missense_Mutation_p.V682L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCAAGGCACACTTCTCCAAAG	0.498																																							uc009zzs.2		NA																	0				lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(2044-2046)GTG>TTG		LATS, large tumor suppressor, homolog 2							118.0	107.0	111.0					13																	21557801		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557801C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2044G>T	13.37:g.21557801C>A	ENSP00000372035:p.Val682Leu					LATS2_uc001unr.3_Missense_Mutation_p.V682L	p.V682L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2409	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	682			Protein kinase.|ATP (By similarity).			Missense_Mutation	SNP	ENST00000382592.4	37	c.2044G>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046693	0.93740	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.31247	1.5;1.5	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.71693	0.3370	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82637	-0.0359	10	0.87932	D	0	.	18.9571	0.92662	0.0:1.0:0.0:0.0	.	682	Q9NRM7	LATS2_HUMAN	L	682	ENSP00000372035:V682L;ENSP00000441817:V682L	ENSP00000372035:V682L	V	-	1	0	LATS2	20455801	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.604000	0.82830	2.709000	0.92574	0.555000	0.69702	GTG		0.498	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			26	27	1	0	3.01185e-09	0.003954	3.94467e-09	26	27				
SACS	26278	broad.mit.edu	37	13	23909383	23909383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:23909383C>A	ENST00000382292.3	-	9	8905	c.8632G>T	c.(8632-8634)Ggg>Tgg	p.G2878W	SACS_ENST00000402364.1_Missense_Mutation_p.G2128W|SACS_ENST00000382298.3_Missense_Mutation_p.G2878W			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2878					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGGCAGCCCAGTCTCCAAA	0.458																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8632-8634)GGG>TGG		sacsin							57.0	59.0	58.0					13																	23909383		2203	4298	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909383C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8632G>T	13.37:g.23909383C>A	ENSP00000371729:p.Gly2878Trp					SACS_uc001uoo.2_Missense_Mutation_p.G2731W|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G2878W	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9221	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2878					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8632G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666627	0.88251	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90324	-2.42;-2.65;-2.42	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.94833	0.8331	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	D	0.95136	0.8259	10	0.87932	D	0	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2878	Q9NZJ4	SACS_HUMAN	W	2878;2128;2878	ENSP00000371729:G2878W;ENSP00000385844:G2128W;ENSP00000371735:G2878W	ENSP00000371729:G2878W	G	-	1	0	SACS	22807383	1.000000	0.71417	0.872000	0.34217	0.969000	0.65631	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	GGG		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	31	1	0	5.18039e-06	0.00308	6.06341e-06	7	31				
TNFRSF19	55504	broad.mit.edu	37	13	24190104	24190104	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:24190104G>T	ENST00000382258.4	+	4	483	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TNFRSF19_ENST00000382263.3_Silent_p.L93L|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000248484.4_Silent_p.L93L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	93					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCTGTCTGGACTGCGCAG	0.567																																							uc001uov.1		NA																	0				kidney(1)|skin(1)	2						c.(277-279)CTG>CTT		tumor necrosis factor receptor superfamily,							109.0	100.0	103.0					13																	24190104		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24190104G>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.279G>T	13.37:g.24190104G>T						TNFRSF19_uc001uot.2_Silent_p.L93L|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Silent_p.L93L	p.L93L	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	4	343	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	93			TNFR-Cys 2.|Extracellular (Potential).		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.279G>T	CCDS9302.1																																																																																				0.567	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		33	19	1	0	8.73648e-17	0.004289	1.39667e-16	33	19				
POMP	51371	broad.mit.edu	37	13	29252222	29252222	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:29252222A>G	ENST00000380842.4	+	6	490	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	137					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		GGTGGAATATAAACTTGGTTT	0.353																																							uc001usf.2		NA																	0					0						c.(409-411)AAA>GAA		proteasome maturation protein							233.0	212.0	219.0					13																	29252222		2203	4300	6503	SO:0001583	missense	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29252222A>G	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.409A>G	13.37:g.29252222A>G	ENSP00000370222:p.Lys137Glu						p.K137E	NM_015932	NP_057016	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	6	490	+		Lung SC(185;0.0367)	137					A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	c.409A>G	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.832835	0.91036	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.7	5.7	0.88788	.	0.091468	0.64402	D	0.000001	T	0.79003	0.4373	M	0.90309	3.105	0.80722	D	1	P	0.52170	0.951	P	0.54544	0.755	D	0.83648	0.0154	9	0.66056	D	0.02	-25.7066	14.9366	0.70960	1.0:0.0:0.0:0.0	.	137	Q9Y244	POMP_HUMAN	E	137	.	ENSP00000370222:K137E	K	+	1	0	POMP	28150222	1.000000	0.71417	0.496000	0.27539	0.901000	0.52897	6.443000	0.73447	2.163000	0.67991	0.533000	0.62120	AAA		0.353	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		37	26	0	0	0	0.009718	0	37	26				
BRCA2	675	broad.mit.edu	37	13	32936676	32936676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:32936676C>T	ENST00000380152.3	+	17	8055	c.7822C>T	c.(7822-7824)Cca>Tca	p.P2608S	BRCA2_ENST00000544455.1_Missense_Mutation_p.P2608S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2608					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTGTGACACTCCAGGTGTGGA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0		p.P2608fs*40(1)		ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7822-7824)CCA>TCA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							104.0	103.0	104.0					13																	32936676		2203	4300	6503	SO:0001583	missense	675	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32936676C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7822C>T	13.37:g.32936676C>T	ENSP00000369497:p.Pro2608Ser	TCGA Ovarian(8;0.087)					p.P2608S	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8049	+		Lung SC(185;0.0262)	2608					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.7822C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435133	0.83885	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.86865	-2.18;-2.18	5.66	5.66	0.87406	DNA recombination/repair protein BRCA2, helical domain (2);	0.054453	0.85682	D	0.000000	D	0.92619	0.7655	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91897	0.5528	10	0.52906	T	0.07	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	2608	P51587	BRCA2_HUMAN	S	2608	ENSP00000369497:P2608S;ENSP00000439902:P2608S	ENSP00000369497:P2608S	P	+	1	0	BRCA2	31834676	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	4.791000	0.62460	2.826000	0.97356	0.655000	0.94253	CCA		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	19	0	0	0	0.005443	0	26	19				
SOHLH2	54937	broad.mit.edu	37	13	36748981	36748981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:36748981G>T	ENST00000379881.3	-	7	755	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	SOHLH2_ENST00000554962.1_Missense_Mutation_p.Q300K|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.Q300K	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	223	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTACGCAGCTGCTCACAGCAA	0.383																																							uc001uvj.2		NA																	0					0						c.(667-669)CAG>AAG		spermatogenesis and oogenesis specific basic							73.0	70.0	71.0					13																	36748981		2203	4300	6503	SO:0001583	missense	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36748981G>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.667C>A	13.37:g.36748981G>T	ENSP00000369210:p.Gln223Lys					SOHLH2_uc010tei.1_Missense_Mutation_p.Q300K	p.Q223K	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	7	756	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	223			Helix-loop-helix motif.		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.667C>A	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293843	0.60086	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.97731	-4.51;-4.51;-4.51	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000018	D	0.97685	0.9241	L	0.40543	1.245	0.33700	D	0.614496	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	D	0.99943	1.1432	10	0.56958	D	0.05	-4.3521	14.041	0.64674	0.0:0.0:1.0:0.0	.	300;223	B4DX90;Q9NX45	.;SOLH2_HUMAN	K	223;300;300	ENSP00000369210:Q223K;ENSP00000451542:Q300K;ENSP00000421868:Q300K	ENSP00000421868:Q300K	Q	-	1	0	CCDC169-SOHLH2;SOHLH2	35646981	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	4.800000	0.62524	2.392000	0.81423	0.650000	0.86243	CAG		0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		21	17	1	0	2.39556e-15	0.00278	3.71441e-15	21	17				
ELF1	1997	broad.mit.edu	37	13	41515310	41515310	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:41515310G>A	ENST00000239882.3	-	8	1317	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	ELF1_ENST00000442101.1_Missense_Mutation_p.P311S|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	335					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTACCCCTGGACTTGAAGAT	0.448																																							uc001uxs.2		NA																	0				ovary(1)	1						c.(1003-1005)CCA>TCA		E74-like factor 1 (ets domain transcription							132.0	134.0	133.0					13																	41515310		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41515310G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1003C>T	13.37:g.41515310G>A	ENSP00000239882:p.Pro335Ser					ELF1_uc010tfc.1_Missense_Mutation_p.P311S|ELF1_uc010acd.2_Missense_Mutation_p.P228S	p.P335S	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	8	1376	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	335					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1003C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	7.615	0.675524	0.14841	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.53423	0.62;0.62	5.47	1.18	0.20946	.	0.503265	0.21383	N	0.075437	T	0.25457	0.0619	L	0.29908	0.895	0.25173	N	0.990269	B;B	0.21309	0.025;0.054	B;B	0.18263	0.015;0.021	T	0.11817	-1.0572	10	0.11485	T	0.65	.	2.5816	0.04819	0.1588:0.0892:0.3391:0.4129	.	311;335	E9PDQ9;P32519	.;ELF1_HUMAN	S	311;77;335	ENSP00000405580:P311S;ENSP00000239882:P335S	ENSP00000239882:P335S	P	-	1	0	ELF1	40413310	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.095000	0.30964	0.305000	0.22832	0.655000	0.94253	CCA		0.448	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		11	83	0	0	0	0.00245	0	11	83				
SERPINE3	647174	broad.mit.edu	37	13	51915467	51915467	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:51915467G>A	ENST00000521255.1	+	1	300	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SERPINE3_ENST00000524365.1_Silent_p.L80L|SERPINE3_ENST00000400389.4_Silent_p.L80L	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	80					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CAGATGCCCTGGGGTACACTG	0.577																																							uc001vfh.2		NA																	0				ovary(2)	2						c.(238-240)CTG>CTA		nexin-related serine protease inhibitor							50.0	56.0	54.0					13																	51915467		2166	4265	6431	SO:0001819	synonymous_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915467G>A	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.240G>A	13.37:g.51915467G>A						SERPINE3_uc010tgp.1_Silent_p.L80L	p.L80L	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN			1	300	+			80					B1V8P3	Silent	SNP	ENST00000521255.1	37	c.240G>A	CCDS53870.1																																																																																				0.577	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	2	0	0	0	0.004672	0	3	2				
ATP7B	540	broad.mit.edu	37	13	52513223	52513223	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:52513223C>A	ENST00000242839.4	-	17	3819	c.3663G>T	c.(3661-3663)ggG>ggT	p.G1221G	ATP7B_ENST00000417240.2_Silent_p.G432G|ATP7B_ENST00000418097.2_Silent_p.G1156G|ATP7B_ENST00000400370.3_Silent_p.G791G|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000448424.2_Silent_p.G1143G|ATP7B_ENST00000344297.5_Silent_p.G1014G|ATP7B_ENST00000400366.3_Silent_p.G1110G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1221			G -> E (in WD). {ECO:0000269|PubMed:16088907}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCCGGTTGTCCCCCGTGATCA	0.532									Wilson disease																														uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3661-3663)GGG>GGT		ATPase, Cu++ transporting, beta polypeptide							108.0	114.0	112.0					13																	52513223		2125	4249	6374	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52513223C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3663G>T	13.37:g.52513223C>A						ATP7B_uc010adv.2_Silent_p.G791G|ATP7B_uc001vfx.2_Silent_p.G1014G|ATP7B_uc001vfy.2_Silent_p.G1110G|ATP7B_uc010tgt.1_Silent_p.G1156G|ATP7B_uc010tgu.1_Silent_p.G1173G|ATP7B_uc010tgv.1_Silent_p.G1143G|ATP7B_uc001vfv.2_Silent_p.G493G|ATP7B_uc010tgs.1_Silent_p.G432G	p.G1221G	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	17	3820	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1221		G -> E (in WD).	Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.3663G>T	CCDS41892.1																																																																																				0.532	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		36	24	1	0	3.78316e-11	0.00623	5.2254e-11	36	24				
KLHL1	57626	broad.mit.edu	37	13	70293684	70293684	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:70293684C>A	ENST00000377844.4	-	9	2591	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	KLHL1_ENST00000545028.1_Missense_Mutation_p.S418I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	611					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S611I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAACAGGAACTTCCATCACG	0.388																																							uc001vip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1831-1833)AGT>ATT		kelch-like 1 protein							91.0	83.0	85.0					13																	70293684		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293684C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1832G>T	13.37:g.70293684C>A	ENSP00000367075:p.Ser611Ile					KLHL1_uc010thm.1_Missense_Mutation_p.S550I	p.S611I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2626	-		Breast(118;0.000162)	611			Kelch 4.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1832G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159032	0.78226	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78246	-1.16;-1.16	5.82	4.96	0.65561	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	D	0.86493	0.5946	M	0.62209	1.925	0.51233	D	0.999919	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.992	D	0.87639	0.2521	10	0.62326	D	0.03	.	16.7869	0.85576	0.0:0.871:0.129:0.0	.	611;611	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	611;418	ENSP00000367075:S611I;ENSP00000439602:S418I	ENSP00000367075:S611I	S	-	2	0	KLHL1	69191685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.413000	0.46997	0.655000	0.94253	AGT		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		15	9	1	0	1.3612e-06	0.003163	1.62893e-06	15	9				
KLF5	688	broad.mit.edu	37	13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P210S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	301			P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512																																							uc001vje.2		NA																	1	Substitution - Missense(1)	p.P301S(1)	large_intestine(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(901-903)CCC>TCC		Kruppel-like factor 5							123.0	101.0	108.0					13																	73636638		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636638C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.901C>T	13.37:g.73636638C>T	ENSP00000366915:p.Pro301Ser					KLF5_uc001vjd.2_Missense_Mutation_p.P210S	p.P301S	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1225	+		Prostate(6;0.00187)|Breast(118;0.0735)	301		P -> S (in a colorectal cancer sample; somatic mutation).			L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.901C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991245	0.74703	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.05;2.85	5.92	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05733	-1.0867	10	0.59425	D	0.04	.	15.2891	0.73852	0.0:0.9328:0.0:0.0672	.	301	Q13887	KLF5_HUMAN	S	210;301;281	ENSP00000440407:P210S;ENSP00000366915:P301S	ENSP00000366915:P301S	P	+	1	0	KLF5	72534639	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.338000	0.79269	1.503000	0.48686	0.555000	0.69702	CCC		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			46	25	0	0	0	0.002522	0	46	25				
MYCBP2	23077	broad.mit.edu	37	13	77642954	77642954	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:77642954T>C	ENST00000544440.2	-	70	11820	c.11803A>G	c.(11803-11805)Att>Gtt	p.I3935V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.I3973V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I3935V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGGACAATATGAGCACAC	0.363																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(11803-11805)ATT>GTT		MYC binding protein 2							149.0	130.0	136.0					13																	77642954		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77642954T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11803A>G	13.37:g.77642954T>C	ENSP00000444596:p.Ile3935Val					MYCBP2_uc010aev.2_Missense_Mutation_p.I3339V|MYCBP2_uc001vke.2_Missense_Mutation_p.I552V	p.I3935V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	11894	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3935						Missense_Mutation	SNP	ENST00000544440.2	37	c.11803A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.43|17.43	3.388308|3.388308	0.61956|0.61956	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.33865|.	1.39;1.39;1.39|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69575|0.69575	0.3126|0.3126	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P|.	0.35745|.	0.518|.	P|.	0.47827|.	0.558|.	T|T	0.67597|0.67597	-0.5630|-0.5630	10|5	0.66056|.	D|.	0.02|.	.|.	15.9388|15.9388	0.79736|0.79736	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3935|.	O75592|.	MYCB2_HUMAN|.	V|C	3935;3973;3935|355	ENSP00000349892:I3935V;ENSP00000384288:I3973V;ENSP00000444596:I3935V|.	ENSP00000349892:I3935V|.	I|Y	-|-	1|2	0|0	MYCBP2|MYCBP2	76540955|76540955	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	7.651000|7.651000	0.83577|0.83577	2.162000|2.162000	0.67917|0.67917	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		17	49	0	0	0	0.006122	0	17	49				
MYCBP2	23077	broad.mit.edu	37	13	77671869	77671869	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:77671869G>C	ENST00000544440.2	-	56	9323	c.9306C>G	c.(9304-9306)acC>acG	p.T3102T	MYCBP2_ENST00000407578.2_Silent_p.T3140T|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.T3102T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCAAAAGTGGTCTCGGTTT	0.388																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9304-9306)ACC>ACG		MYC binding protein 2							129.0	113.0	118.0					13																	77671869		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671869G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9306C>G	13.37:g.77671869G>C						MYCBP2_uc010aev.2_Silent_p.T2506T|MYCBP2_uc001vkg.1_Silent_p.T625T|MYCBP2_uc010aew.2_Silent_p.T488T	p.T3102T	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	9397	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3102						Silent	SNP	ENST00000544440.2	37	c.9306C>G																																																																																					0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		15	59	0	0	0	0.003163	0	15	59				
SLITRK1	114798	broad.mit.edu	37	13	84455420	84455420	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:84455420G>C	ENST00000377084.2	-	1	1108	c.223C>G	c.(223-225)Cct>Gct	p.P75A		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	75					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTCATTAGGGAAAAGTCGA	0.463																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(223-225)CCT>GCT		slit and trk like 1 protein precursor							67.0	69.0	68.0					13																	84455420		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455420G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.223C>G	13.37:g.84455420G>C	ENSP00000366288:p.Pro75Ala						p.P75A	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1109	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	75			LRR 1.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.223C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058228	0.36277	.	.	ENSG00000178235	ENST00000377084	T	0.60171	0.21	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.58969	1.84	0.58432	D	0.999999	B	0.24721	0.11	B	0.24006	0.05	T	0.51092	-0.8749	10	0.23302	T	0.38	-5.6919	16.5743	0.84633	0.0:0.0:1.0:0.0	.	75	Q96PX8	SLIK1_HUMAN	A	75	ENSP00000366288:P75A	ENSP00000366288:P75A	P	-	1	0	SLITRK1	83353421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.477000	0.83638	0.561000	0.74099	CCT		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		32	27	0	0	0	0.002096	0	32	27				
COL4A1	1282	broad.mit.edu	37	13	110859048	110859048	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:110859048G>A	ENST00000375820.4	-	15	943	c.822C>T	c.(820-822)gtC>gtT	p.V274V	COL4A1_ENST00000543140.1_Silent_p.V274V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	274	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTCTCTCCGACCCCTGGCA	0.363																																							uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(820-822)GTC>GTT		alpha 1 type IV collagen preproprotein							83.0	91.0	88.0					13																	110859048		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110859048G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.822C>T	13.37:g.110859048G>A						COL4A1_uc010agl.2_Silent_p.V274V	p.V274V	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		15	944	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	274			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.822C>T	CCDS9511.1																																																																																				0.363	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			26	60	0	0	0	0.002096	0	26	60				
POTEG	404785	broad.mit.edu	37	14	19553759	19553759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:19553759A>T	ENST00000409832.3	+	1	395	c.343A>T	c.(343-345)Agc>Tgc	p.S115C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGCGGCAAGAGCAAAGTGGG	0.597																																							uc001vuz.1		NA																	0				ovary(1)	1						c.(343-345)AGC>TGC		POTE ankyrin domain family, member G							386.0	418.0	407.0					14																	19553759		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553759A>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.343A>T	14.37:g.19553759A>T	ENSP00000386971:p.Ser115Cys					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.S115C	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	395	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.343A>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	9.826	1.187028	0.21870	.	.	ENSG00000222036	ENST00000409832	T	0.28666	1.6	.	.	.	.	.	.	.	.	T	0.42607	0.1210	L	0.53249	1.67	0.09310	N	1	D	0.76494	0.999	D	0.65010	0.931	T	0.21245	-1.0251	7	0.56958	D	0.05	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	C	115	ENSP00000386971:S115C	ENSP00000386971:S115C	S	+	1	0	POTEG	18623759	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.307000	0.08167	0.141000	0.18875	0.139000	0.15985	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		28	406	0	0	0	0.002445	0	28	406				
OR4K2	390431	broad.mit.edu	37	14	20345054	20345054	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20345054T>A	ENST00000298642.2	+	1	664	c.628T>A	c.(628-630)Tgt>Agt	p.C210S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCGTTGTCCTGTTTTATTGT	0.398																																							uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(628-630)TGT>AGT		olfactory receptor, family 4, subfamily K,							293.0	296.0	295.0					14																	20345054		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345054T>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.628T>A	14.37:g.20345054T>A	ENSP00000298642:p.Cys210Ser						p.C210S	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	628	+	all_cancers(95;0.00108)		210			Helical; Name=5; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.628T>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.034	-1.314712	0.01331	.	.	ENSG00000165762	ENST00000298642	T	0.36157	1.27	5.0	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.265381	0.27294	N	0.020032	T	0.12774	0.0310	N	0.04063	-0.285	0.21105	N	0.999788	B	0.12630	0.006	B	0.18871	0.023	T	0.31194	-0.9952	10	0.06757	T	0.87	.	4.2932	0.10888	0.1762:0.0921:0.0:0.7317	.	210	Q8NGD2	OR4K2_HUMAN	S	210	ENSP00000298642:C210S	ENSP00000298642:C210S	C	+	1	0	OR4K2	19414894	0.000000	0.05858	0.682000	0.30024	0.017000	0.09413	0.117000	0.15583	0.907000	0.36646	0.383000	0.25322	TGT		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			16	109	0	0	0	0.006122	0	16	109				
OR4K17	390436	broad.mit.edu	37	14	20586176	20586177	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20586176_20586177TG>GT	ENST00000315543.4	+	1	611_612	c.611_612TG>GT	c.(610-612)gTG>gGT	p.V204G		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGTCCCAATGTGGTAGACAGCA	0.431																																							uc001vwo.1		NA																	0				skin(3)	3						c.(610-612)GTG>GGT		olfactory receptor, family 4, subfamily K,																																				SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586176_20586177TG>GT		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	Exception_encountered	14.37:g.20586176_20586177delinsGT	ENSP00000319197:p.Val204Gly						p.V204G	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	611_612	+	all_cancers(95;0.00108)		176			Extracellular (Potential).		Q6IF12	Missense_Mutation	DNP	ENST00000315543.4	37	c.611_612TG>GT	CCDS32030.1																																																																																				0.431	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			32	62	0	0	0	0.004672	0	32	62				
OR11G2	390439	broad.mit.edu	37	14	20666392	20666392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20666392C>A	ENST00000357366.3	+	1	898	c.898C>A	c.(898-900)Cca>Aca	p.P300T		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTATGGGAGcccaccatctaa	0.478																																							uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(898-900)CCA>ACA		olfactory receptor, family 11, subfamily G,							141.0	135.0	137.0					14																	20666392		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666392C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.898C>A	14.37:g.20666392C>A	ENSP00000349930:p.Pro300Thr						p.P300T	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	898	+	all_cancers(95;0.00108)		300			Extracellular (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.898C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	14.78	2.638991	0.47153	.	.	ENSG00000196832	ENST00000357366	T	0.00274	8.35	4.94	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.139760	0.32884	N	0.005540	T	0.00815	0.0027	M	0.94021	3.485	0.09310	N	1	D	0.59357	0.985	D	0.68039	0.955	T	0.16305	-1.0407	10	0.72032	D	0.01	.	10.3108	0.43708	0.0:0.8362:0.0:0.1638	.	300	Q8NGC1	O11G2_HUMAN	T	300	ENSP00000349930:P300T	ENSP00000349930:P300T	P	+	1	0	OR11G2	19736232	0.883000	0.30277	0.951000	0.38953	0.787000	0.44495	1.681000	0.37618	0.686000	0.31488	0.655000	0.94253	CCA		0.478	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			34	62	1	0	1.45844e-13	0.002836	2.17034e-13	34	62				
RNASE2	6036	broad.mit.edu	37	14	21423997	21423997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:21423997G>T	ENST00000304625.2	+	2	157	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	23					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGGAGGGCTCACTCCA	0.463																																							uc010aif.2		NA																	0				ovary(1)	1						c.(67-69)GGC>TGC		ribonuclease, RNase A family, 2 (liver,							76.0	79.0	78.0					14																	21423997		2203	4299	6502	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21423997G>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.67G>T	14.37:g.21423997G>T	ENSP00000303276:p.Gly23Cys					RNASE2_uc001vyl.1_Missense_Mutation_p.G23C	p.G23C	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	136	+	all_cancers(95;0.00381)		23					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.67G>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707000	0.30232	.	.	ENSG00000169385	ENST00000304625	T	0.07114	3.22	2.69	-1.41	0.08941	.	1.467970	0.05590	U	0.574442	T	0.08582	0.0213	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.54372	0.75	T	0.14227	-1.0480	10	0.37606	T	0.19	.	0.2191	0.00166	0.232:0.2444:0.277:0.2466	.	23	P10153	RNAS2_HUMAN	C	23	ENSP00000303276:G23C	ENSP00000303276:G23C	G	+	1	0	RNASE2	20493837	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.948000	0.00328	-0.274000	0.09232	0.455000	0.32223	GGC		0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			17	51	1	0	2.5808e-16	0.006122	4.08957e-16	17	51				
NDRG2	57447	broad.mit.edu	37	14	21490241	21490242	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:21490241_21490242TC>AA	ENST00000556147.1	-	5	1263_1264	c.323_324GA>TT	c.(322-324)gGA>gTT	p.G108V	NDRG2_ENST00000554104.1_Missense_Mutation_p.G21V|NDRG2_ENST00000298687.5_Missense_Mutation_p.G108V|NDRG2_ENST00000403829.3_Missense_Mutation_p.G104V|NDRG2_ENST00000397858.1_Missense_Mutation_p.G108V|NDRG2_ENST00000397851.2_Missense_Mutation_p.G108V|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000397847.2_Missense_Mutation_p.G108V|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000298684.5_Missense_Mutation_p.G94V|NDRG2_ENST00000553503.1_Missense_Mutation_p.G94V|NDRG2_ENST00000397855.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397853.3_Missense_Mutation_p.G108V|NDRG2_ENST00000555158.1_Missense_Mutation_p.G94V|NDRG2_ENST00000397856.3_Missense_Mutation_p.G94V|NDRG2_ENST00000360463.3_Missense_Mutation_p.G94V|NDRG2_ENST00000350792.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397844.2_Missense_Mutation_p.G94V|NDRG2_ENST00000554143.1_Missense_Mutation_p.G94V			Q9UN36	NDRG2_HUMAN	NDRG family member 2	108					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACACAGGGGCTCCCTCTTCCAT	0.52																																							uc001vyy.2		NA																	0				ovary(1)|breast(1)	2						c.(322-324)GGA>GTT		N-myc downstream-regulated gene 2 isoform a																																				SO:0001583	missense	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21490241_21490242TC>AA	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.323_324delinsAA	14.37:g.21490241_21490242delinsAA	ENSP00000451712:p.Gly108Val					NDRG2_uc010tll.1_Missense_Mutation_p.G104V|NDRG2_uc001vyt.2_Missense_Mutation_p.G21V|NDRG2_uc001vyu.2_Missense_Mutation_p.G94V|NDRG2_uc001vyv.2_Missense_Mutation_p.G94V|NDRG2_uc001vyw.2_Missense_Mutation_p.G94V|NDRG2_uc001vzb.2_Missense_Mutation_p.G48V|NDRG2_uc001vyx.2_Missense_Mutation_p.G108V|NDRG2_uc001vza.2_Missense_Mutation_p.G94V|NDRG2_uc001vyz.2_Missense_Mutation_p.G94V|NDRG2_uc001vzc.2_Missense_Mutation_p.G94V|NDRG2_uc001vze.2_Missense_Mutation_p.G108V|NDRG2_uc001vzd.2_Missense_Mutation_p.G108V|NDRG2_uc001vzg.2_Missense_Mutation_p.G94V|NDRG2_uc001vzf.2_Missense_Mutation_p.G94V|NDRG2_uc010aig.2_Missense_Mutation_p.G108V	p.G108V	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	6	473_474	-	all_cancers(95;0.00185)		108					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	DNP	ENST00000556147.1	37	c.323_324GA>TT	CCDS9565.1																																																																																				0.520	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			12	51	0	0	0	0.004672	0	12	51				
MYH6	4624	broad.mit.edu	37	14	23855649	23855649	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:23855649C>T	ENST00000356287.3	-	32	4863	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	MYH6_ENST00000405093.3_Missense_Mutation_p.E1612K|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1612					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCAGGACCTCGTTGCGGCTG	0.607																																							uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4834-4836)GAG>AAG		myosin heavy chain 6							164.0	152.0	156.0					14																	23855649		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855649C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4834G>A	14.37:g.23855649C>T	ENSP00000348634:p.Glu1612Lys						p.E1612K	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4901	-	all_cancers(95;2.54e-05)		1612			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4834G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	32	5.191032	0.94923	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81821	-1.54;-1.54	4.5	4.5	0.54988	Myosin tail (1);	.	.	.	.	D	0.89908	0.6851	M	0.86178	2.8	0.58432	D	0.999996	D	0.76494	0.999	D	0.64042	0.921	D	0.92071	0.5664	9	0.87932	D	0	.	17.5797	0.87963	0.0:1.0:0.0:0.0	.	1612	P13533	MYH6_HUMAN	K	1612	ENSP00000386041:E1612K;ENSP00000348634:E1612K	ENSP00000348634:E1612K	E	-	1	0	MYH6	22925489	1.000000	0.71417	0.970000	0.41538	0.960000	0.62799	7.707000	0.84623	2.203000	0.70933	0.561000	0.74099	GAG		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			83	83	0	0	0	0.00361	0	83	83				
JPH4	84502	broad.mit.edu	37	14	24041027	24041027	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24041027G>T	ENST00000397118.3	-	5	2156	c.1254C>A	c.(1252-1254)ccC>ccA	p.P418P	JPH4_ENST00000544177.1_Silent_p.P83P|JPH4_ENST00000356300.4_Silent_p.P418P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	418					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCTAGCATGGGCTGCAGGT	0.632																																							uc001wkq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1252-1254)CCC>CCA		junctophilin 4							92.0	87.0	89.0					14																	24041027		2203	4300	6503	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24041027G>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1254C>A	14.37:g.24041027G>T						JPH4_uc010tnr.1_Silent_p.P83P|JPH4_uc001wkr.2_Silent_p.P418P	p.P418P	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	2172	-	all_cancers(95;0.000251)		418			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1254C>A	CCDS9603.1																																																																																				0.632	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		61	58	1	0	1.53582e-20	0.00361	2.64279e-20	61	58				
PSME2	5721	broad.mit.edu	37	14	24614455	24614455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24614455C>A	ENST00000216802.5	-	5	898	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	RNF31_ENST00000559275.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Nonsense_Mutation_p.E76*|RNF31_ENST00000324103.6_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTCTTACCTTCTTTCTTCTCC	0.458																																							uc001wmj.2		NA																	0					0						c.(259-261)GAA>TAA		proteasome activator subunit 2							146.0	148.0	147.0					14																	24614455		2203	4300	6503	SO:0001587	stop_gained	5721				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		g.chr14:24614455C>A		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.259G>T	14.37:g.24614455C>A	ENSP00000216802:p.Glu87*					PSME2_uc001wmk.2_Nonsense_Mutation_p.E10*|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	p.E87*	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	5	324	-			87					Q15129	Nonsense_Mutation	SNP	ENST00000216802.5	37	c.259G>T	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	C	40	8.369315	0.98781	.	.	ENSG00000100911	ENST00000216802	.	.	.	5.5	5.5	0.81552	.	0.094778	0.39909	U	0.001237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-37.6851	14.8835	0.70550	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000216802:E87X	E	-	1	0	PSME2	23684295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.543000	0.53633	2.570000	0.86706	0.655000	0.94253	GAA		0.458	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		15	74	1	0	1.5739e-10	0.004007	2.13908e-10	15	74				
CIDEB	27141	broad.mit.edu	37	14	24775613	24775613	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24775613C>T	ENST00000336557.5	-	6	1605	c.303G>A	c.(301-303)gtG>gtA	p.V101V	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Silent_p.V101V|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000258807.5_Silent_p.V101V			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	101	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CAGACTGCAACACCATCAGGC	0.552																																							uc001won.2		NA																	0					0						c.(301-303)GTG>GTA		cell death-inducing DFFA-like effector b							184.0	143.0	157.0					14																	24775613		2203	4300	6503	SO:0001819	synonymous_variant	27141				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		g.chr14:24775613C>T	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.303G>A	14.37:g.24775613C>T						CIDEB_uc001woo.2_Silent_p.V101V|CIDEB_uc001wop.2_Silent_p.V101V|LTB4R2_uc001woq.1_5'Flank	p.V101V	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	427	-			101			CIDE-N.		D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	37	c.303G>A	CCDS32056.1																																																																																				0.552	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			17	110	0	0	0	0.008871	0	17	110				
KHNYN	23351	broad.mit.edu	37	14	24901093	24901093	+	Missense_Mutation	SNP	G	G	C	rs186605874		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24901093G>C	ENST00000251343.5	+	3	765	c.626G>C	c.(625-627)tGg>tCg	p.W209S	KHNYN_ENST00000556842.1_Missense_Mutation_p.W209S|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.W209S|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	209							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGCTTCTTGGGAGGGGCGG	0.642											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wph.3		NA																	0				ovary(2)|liver(1)	3						c.(625-627)TGG>TCG		hypothetical protein LOC23351							53.0	57.0	56.0					14																	24901093		2203	4298	6501	SO:0001583	missense	23351							g.chr14:24901093G>C	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.626G>C	14.37:g.24901093G>C	ENSP00000251343:p.Trp209Ser		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.W250S|KHNYN_uc010alw.2_Missense_Mutation_p.W209S|CBLN3_uc001wpg.3_5'Flank	p.W209S	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	828	+			209					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.626G>C	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	2.299	-0.360732	0.05103	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.22945	1.93;1.93;1.93	3.31	2.4	0.29515	.	1.051080	0.07470	N	0.902131	T	0.15176	0.0366	N	0.24115	0.695	0.35710	D	0.816308	B;B	0.29432	0.244;0.148	B;B	0.22386	0.039;0.027	T	0.21759	-1.0236	10	0.17832	T	0.49	.	6.9284	0.24428	0.1304:0.0:0.8696:0.0	.	250;209	D3DS77;O15037	.;KHNYN_HUMAN	S	209	ENSP00000251343:W209S;ENSP00000451106:W209S;ENSP00000450799:W209S	ENSP00000251343:W209S	W	+	2	0	KHNYN	23970933	0.029000	0.19370	0.089000	0.20774	0.214000	0.24535	0.691000	0.25467	0.949000	0.37715	0.563000	0.77884	TGG		0.642	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			26	79	0	0	0	0.005443	0	26	79				
CTSG	1511	broad.mit.edu	37	14	25042850	25042851	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:25042850_25042851GG>CT	ENST00000216336.2	-	5	796_797	c.760_761CC>AG	c.(760-762)CCc>AGc	p.P254S		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	254					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTCACAGGGGGGTCTCCATC	0.495																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(760-762)CCC>AGC		cathepsin G preproprotein																																				SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042850_25042851GG>CT	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.760_761delinsCT	14.37:g.25042850_25042851delinsCT	ENSP00000216336:p.Pro254Ser						p.P254S	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	797_798	-			254					Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	DNP	ENST00000216336.2	37	c.760_761CC>AG	CCDS9631.1																																																																																				0.495	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		124	122	0	0	0	0.004672	0	124	122				
PRKD1	5587	broad.mit.edu	37	14	30068940	30068940	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:30068940A>T	ENST00000331968.5	-	14	2218	c.1989T>A	c.(1987-1989)caT>caA	p.H663Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H671Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCATGTCTCCATGGAGTTTTT	0.378																																							uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1987-1989)CAT>CAA		protein kinase D1							112.0	110.0	111.0					14																	30068940		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068940A>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1989T>A	14.37:g.30068940A>T	ENSP00000333568:p.His663Gln						p.H663Q	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2170	-	Hepatocellular(127;0.0604)		663			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1989T>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384215	0.42308	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82344	-1.6;-1.6	5.95	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	N	0.02665	-0.54	0.54753	D	0.999982	P	0.35527	0.507	B	0.30401	0.115	T	0.60005	-0.7347	10	0.27082	T	0.32	-28.1835	10.5743	0.45219	0.867:0.0:0.133:0.0	.	663	Q15139	KPCD1_HUMAN	Q	663;671	ENSP00000333568:H663Q;ENSP00000390535:H671Q	ENSP00000333568:H663Q	H	-	3	2	PRKD1	29138691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.243000	0.51392	1.082000	0.41137	0.533000	0.62120	CAT		0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		13	113	0	0	0	0.00245	0	13	113				
AKAP6	9472	broad.mit.edu	37	14	33068651	33068651	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:33068651C>G	ENST00000280979.4	+	6	2675	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	AKAP6_ENST00000557272.1_Silent_p.L835L|AKAP6_ENST00000557354.1_Silent_p.L835L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	835					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)		ATTGTGCTCTCAAGGAAGCTG	0.393																																					Melanoma(49;821 1200 7288 13647 42351)	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.(2503-2505)CTC>CTG		A-kinase anchor protein 6							152.0	141.0	145.0					14																	33068651		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33068651C>G	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.2505C>G	14.37:g.33068651C>G						AKAP6_uc010aml.2_Silent_p.L832L	p.L835L	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)	6	2675	+	Breast(36;0.0388)|Prostate(35;0.15)		835			Spectrin 1.		A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.2505C>G	CCDS9644.1																																																																																				0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		29	84	0	0	0	0.002445	0	29	84				
SRP54	6729	broad.mit.edu	37	14	35478009	35478009	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:35478009A>T	ENST00000556994.1	+	8	854	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	SRP54_ENST00000216774.6_Missense_Mutation_p.T153S|SRP54_ENST00000555557.1_Missense_Mutation_p.T89S|SRP54_ENST00000546080.1_Missense_Mutation_p.T104S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	153	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ACAGAATGCTACCAAAGCAAG	0.279																																							uc001wso.2		NA																	0				ovary(1)	1						c.(457-459)ACC>TCC		signal recognition particle 54kDa isoform 1							59.0	64.0	62.0					14																	35478009		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35478009A>T	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.457A>T	14.37:g.35478009A>T	ENSP00000451818:p.Thr153Ser					SRP54_uc010tpp.1_Missense_Mutation_p.T104S|SRP54_uc010tpq.1_Missense_Mutation_p.T89S	p.T153S	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	7	808	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		153			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.457A>T	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825759	0.90955	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	L	0.42529	1.33	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.81914	0.995;0.925	T	0.68096	-0.5499	9	0.41790	T	0.15	-7.5046	15.0513	0.71872	1.0:0.0:0.0:0.0	.	104;153	B4DUW6;P61011	.;SRP54_HUMAN	S	153;153;104;89	.	ENSP00000216774:T153S	T	+	1	0	SRP54	34547760	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.279000	0.95777	1.994000	0.58287	0.477000	0.44152	ACC		0.279	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		46	28	0	0	0	0.00361	0	46	28				
PPP2R3C	55012	broad.mit.edu	37	14	35585916	35585916	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:35585916T>G	ENST00000261475.5	-	2	439	c.86A>C	c.(85-87)gAt>gCt	p.D29A	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.D29A	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	29					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CATTTCTTCATCTTTTAATTC	0.303																																							uc001wss.2		NA																	0				ovary(1)	1						c.(85-87)GAT>GCT		serine/threonine-protein phosphatase 2A							64.0	66.0	66.0					14																	35585916		2202	4298	6500	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35585916T>G	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.86A>C	14.37:g.35585916T>G	ENSP00000261475:p.Asp29Ala					PPP2R3C_uc001wst.2_Intron|PPP2R3C_uc010tpr.1_Intron|PPP2R3C_uc001wsu.2_Intron|PPP2R3C_uc010amn.1_Missense_Mutation_p.D29A|PPP2R3C_uc001wsw.2_Missense_Mutation_p.D29A|PPP2R3C_uc001wsx.1_Missense_Mutation_p.D29A	p.D29A	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	2	440	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		29					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.86A>C	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974543	0.34848	.	.	ENSG00000092020	ENST00000261475;ENST00000554361;ENST00000555644;ENST00000557278	T	0.46063	0.88	5.02	5.02	0.67125	.	0.154878	0.56097	D	0.000023	T	0.17365	0.0417	N	0.01482	-0.84	0.39200	D	0.963129	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.16722	0.003;0.016;0.002	T	0.15435	-1.0437	10	0.07990	T	0.79	-9.371	15.0444	0.71816	0.0:0.0:0.0:1.0	.	29;29;29	G3V2K1;Q86US5;Q969Q6	.;.;P2R3C_HUMAN	A	29	ENSP00000450716:D29A	ENSP00000261475:D29A	D	-	2	0	PPP2R3C	34655667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.085000	0.64468	1.999000	0.58509	0.459000	0.35465	GAT		0.303	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		6	41	0	0	0	0.001984	0	6	41				
RALGAPA1	253959	broad.mit.edu	37	14	36159114	36159114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:36159114C>A	ENST00000389698.3	-	17	2752	c.2362G>T	c.(2362-2364)Gag>Tag	p.E788*	RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.E835*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E788*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E788*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	788					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCTGCTCCTCATTCAAAGCA	0.428																																							uc001wti.2		NA																	0				ovary(3)|breast(1)	4						c.(2362-2364)GAG>TAG		Ral GTPase activating protein, alpha subunit 1							97.0	92.0	93.0					14																	36159114		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36159114C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2362G>T	14.37:g.36159114C>A	ENSP00000374348:p.Glu788*					RALGAPA1_uc001wtj.2_Nonsense_Mutation_p.E788*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.E788*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.E835*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.E686*	p.E788*	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			17	2753	-			788					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.2362G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	40	8.407880	0.98799	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.9	5.9	0.94986	.	0.292395	0.35838	N	0.002942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-13.52	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	788;788;788;835;788;835	.	ENSP00000258840:E835X	E	-	1	0	RALGAPA1	35228865	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.359000	0.66074	2.788000	0.95919	0.650000	0.86243	GAG		0.428	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		177	43	1	0	4.28478e-88	0.00361	8.33827e-88	177	43				
CLEC14A	161198	broad.mit.edu	37	14	38724207	38724207	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:38724207T>A	ENST00000342213.2	-	1	1367	c.1021A>T	c.(1021-1023)Aca>Tca	p.T341S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	341						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAATAGATGTTACTGAATTG	0.537																																							uc001wum.1		NA																	0				ovary(3)|skin(1)	4						c.(1021-1023)ACA>TCA		C-type lectin domain family 14, member A							103.0	85.0	91.0					14																	38724207		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724207T>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1021A>T	14.37:g.38724207T>A	ENSP00000353013:p.Thr341Ser						p.T341S	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1368	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		341			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1021A>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983117	0.34942	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.80123	-1.34	3.97	1.58	0.23477	.	1.010850	0.07956	N	0.981716	T	0.65719	0.2718	L	0.29908	0.895	0.09310	N	1	P	0.36909	0.573	B	0.30401	0.115	T	0.56117	-0.8032	10	0.51188	T	0.08	-0.1822	4.1773	0.10358	0.0:0.1124:0.2293:0.6583	.	341	Q86T13	CLC14_HUMAN	S	341;106	ENSP00000353013:T341S	ENSP00000353013:T341S	T	-	1	0	CLEC14A	37793958	0.361000	0.24972	0.009000	0.14445	0.077000	0.17291	0.186000	0.16978	0.339000	0.23719	0.460000	0.39030	ACA		0.537	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		30	215	0	0	0	0.002445	0	30	215				
PNN	5411	broad.mit.edu	37	14	39644496	39644496	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:39644496G>T	ENST00000216832.4	+	1	80	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	PNN_ENST00000553331.1_Missense_Mutation_p.V5L|PNN_ENST00000556530.1_Missense_Mutation_p.V5L|RP11-407N17.4_ENST00000556537.1_lincRNA	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	5	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGCGGTCGCCGTGAGAACTTT	0.607																																							uc001wuw.3		NA																	0				ovary(1)	1						c.(13-15)GTG>TTG		pinin, desmosome associated protein							51.0	44.0	47.0					14																	39644496		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39644496G>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.13G>T	14.37:g.39644496G>T	ENSP00000216832:p.Val5Leu						p.V5L	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	1	110	+	Hepatocellular(127;0.213)		5			Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.13G>T	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349776	0.95830	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.52526	0.66	6.06	6.06	0.98353	Pinin/SDK (2);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66143	-0.5997	10	0.52906	T	0.07	-8.7531	20.6243	0.99512	0.0:0.0:1.0:0.0	.	5	Q9H307	PININ_HUMAN	L	5	ENSP00000216832:V5L	ENSP00000216832:V5L	V	+	1	0	PNN	38714247	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.197000	0.94985	2.879000	0.98667	0.650000	0.86243	GTG		0.607	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		51	14	1	0	6.03219e-31	0.00361	1.12674e-30	51	14				
MDGA2	161357	broad.mit.edu	37	14	47530713	47530713	+	Missense_Mutation	SNP	G	G	T	rs201536918	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:47530713G>T	ENST00000399232.2	-	7	1421	c.1057C>A	c.(1057-1059)Cgt>Agt	p.R353S	MDGA2_ENST00000439988.3_Missense_Mutation_p.R422S|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124S|MDGA2_ENST00000426342.1_Missense_Mutation_p.R124S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCACCTCACGGCCAATCTGG	0.383																																							uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1057-1059)CGT>AGT		MAM domain containing 1 isoform 1							80.0	73.0	75.0					14																	47530713		1873	4091	5964	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530713G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1057C>A	14.37:g.47530713G>T	ENSP00000382178:p.Arg353Ser					MDGA2_uc001wwi.3_Missense_Mutation_p.R124S|MDGA2_uc010ani.2_5'UTR	p.R353S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1253	-			353			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1057C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984831|2.984831	0.53934|0.53934	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.|0.000000	.|0.52532	.|U	.|0.000064	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.75020	.|0.985	T|T	0.19386|0.19386	-1.0307|-1.0307	5|10	.|0.13108	.|T	.|0.6	.|.	18.9858|18.9858	0.92769|0.92769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353	.|Q7Z553	.|MDGA2_HUMAN	Q|S	127|353;124;422;124	.|ENSP00000400011:R353S;ENSP00000405456:R124S;ENSP00000382178:R422S;ENSP00000349925:R124S	.|ENSP00000349925:R124S	P|R	-|-	2|1	0|0	MDGA2|MDGA2	46600463|46600463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.807000|9.807000	0.99171|0.99171	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	36	1	0	0.00010058	0.001368	0.000112257	12	36				
PYGL	5836	broad.mit.edu	37	14	51383714	51383714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:51383714C>A	ENST00000216392.7	-	8	1297	c.965G>T	c.(964-966)gGt>gTt	p.G322V	PYGL_ENST00000532462.1_Missense_Mutation_p.G322V|PYGL_ENST00000544180.2_Missense_Mutation_p.G288V	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	322					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGTTCCTGCACCACGGGTGGA	0.498																																							uc001wyu.2		NA																	0				skin(1)	1						c.(964-966)GGT>GTT		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						106.0	97.0	100.0					14																	51383714		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51383714C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.965G>T	14.37:g.51383714C>A	ENSP00000216392:p.Gly322Val					PYGL_uc010tqq.1_Missense_Mutation_p.G288V|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.G125V	p.G322V	NM_002863	NP_002854	P06737	PYGL_HUMAN			8	1092	-	all_epithelial(31;0.00825)|Breast(41;0.148)		322					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.965G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706933	0.30232	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93712	-3.27;-3.07;-3.14	5.72	0.796	0.18648	.	0.665201	0.17827	N	0.160667	D	0.83635	0.5297	N	0.08118	0	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.72743	-0.4201	10	0.42905	T	0.14	-17.9934	10.9884	0.47534	0.0:0.6937:0.0:0.3063	.	288;322;322	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	V	322;288;322	ENSP00000431657:G322V;ENSP00000443787:G288V;ENSP00000216392:G322V	ENSP00000216392:G322V	G	-	2	0	PYGL	50453464	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.170000	0.16663	0.159000	0.19401	0.655000	0.94253	GGT		0.498	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		16	67	1	0	3.32936e-07	0.006122	4.06514e-07	16	67				
TXNDC16	57544	broad.mit.edu	37	14	52907281	52907281	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:52907281C>A	ENST00000281741.4	-	19	2375		c.e19+1		TXNDC16_ENST00000554399.1_Splice_Site	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACATACTTACAGATTTAACC	0.294																																							uc001wzs.2		NA																	0					0						c.e19+1		thioredoxin domain containing 16 isoform 1							57.0	55.0	56.0					14																	52907281		2202	4297	6499	SO:0001630	splice_region_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52907281C>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.2003+1G>T	14.37:g.52907281C>A						TXNDC16_uc010tqu.1_Splice_Site_p.L663_splice|TXNDC16_uc010aoe.2_Splice_Site	p.L668_splice	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			19	2452	-	Breast(41;0.0716)							A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37	c.2003_splice	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427557	0.62733	.	.	ENSG00000087301	ENST00000281741	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9847	0.86337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	51977031	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.887000	0.63156	2.417000	0.82017	0.591000	0.81541	.		0.294	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	5	22	1	0	1.23904e-05	0.000602	1.4328e-05	5	22				
TMEM260	54916	broad.mit.edu	37	14	57083899	57083900	+	Splice_Site	DNP	AG	AG	TA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:57083899_57083900AG>TA	ENST00000261556.6	+	9	1063		c.e9-1		TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000553335.1_Splice_Site	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											TATTTTTTGTAGGGACAGACAG	0.262																																							uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e9-1		hypothetical protein LOC54916																																				SO:0001630	splice_region_variant	54916					integral to membrane		g.chr14:57083899_57083900AG>TA	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	Exception_encountered	14.37:g.57083899_57083900delinsTA						C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_Splice_Site|C14orf101_uc001xco.2_Splice_Site	p.K314_splice	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	9	1064	+								A8KAN4|B3KPF5|Q86XE1	Splice_Site	DNP	ENST00000261556.6	37	c.942_splice	CCDS9727.2																																																																																				0.262	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	Intron	8	39	0	0	0	0.004672	0	8	39				
PRKCH	5583	broad.mit.edu	37	14	61920037	61920037	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:61920037T>G	ENST00000332981.5	+	7	1311	c.926T>G	c.(925-927)aTg>aGg	p.M309R	PRKCH_ENST00000555082.1_Missense_Mutation_p.M148R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	309					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGGCAGGGATGGGTCTCCAA	0.468																																					Melanoma(135;863 1779 8064 14443 26348)	Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(925-927)ATG>AGG		protein kinase C, eta							109.0	92.0	98.0					14																	61920037		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61920037T>G	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.926T>G	14.37:g.61920037T>G	ENSP00000329127:p.Met309Arg					PRKCH_uc010tsa.1_Missense_Mutation_p.M148R	p.M309R	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	7	1231	+			309					B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.926T>G	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	T	33	5.272670	0.95429	.	.	ENSG00000027075	ENST00000332981;ENST00000555082;ENST00000553726;ENST00000557585	T;T;D;T	0.89050	-0.33;-0.31;-2.46;-0.9	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.56916	0.809	D	0.87960	0.2729	10	0.40728	T	0.16	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	309	P24723	KPCL_HUMAN	R	309;148;40;148	ENSP00000329127:M309R;ENSP00000450981:M148R;ENSP00000451793:M40R;ENSP00000451930:M148R	ENSP00000329127:M309R	M	+	2	0	PRKCH	60989790	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATG		0.468	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		4	33	0	0	0	0.009096	0	4	33				
KCNH5	27133	broad.mit.edu	37	14	63417143	63417143	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:63417143C>T	ENST00000322893.7	-	7	1345	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KCNH5_ENST00000394964.2_Silent_p.V301V|KCNH5_ENST00000394968.1_Silent_p.V301V|KCNH5_ENST00000420622.2_Silent_p.V359V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	359					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAGTGGGCCACCAGTCCAA	0.527																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1075-1077)GTG>GTA		potassium voltage-gated channel, subfamily H,							106.0	101.0	103.0					14																	63417143		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63417143C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1077G>A	14.37:g.63417143C>T						KCNH5_uc001xfy.2_Silent_p.V359V|KCNH5_uc001xfz.1_Silent_p.V301V|KCNH5_uc001xga.2_Silent_p.V301V	p.V359V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1128	-			359			Helical; Name=Segment S5; (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.1077G>A	CCDS9756.1																																																																																				0.527	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		16	47	0	0	0	0.006122	0	16	47				
PLEKHG3	26030	broad.mit.edu	37	14	65198849	65198849	+	Missense_Mutation	SNP	C	C	T	rs142732386	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:65198849C>T	ENST00000394691.1	+	10	1309	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.H332Y			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	388	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGACTCACCACATCAAGAG	0.547																																							uc001xho.1		NA																	0				skin(1)	1						c.(1162-1164)CAC>TAC		pleckstrin homology domain containing, family G,		C	TYR/HIS	0,4406		0,0,2203	163.0	126.0	139.0		994	5.0	1.0	14	dbSNP_134	139	8,8592	5.7+/-21.5	0,8,4292	yes	missense	PLEKHG3	NM_015549.1	83	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	possibly-damaging	332/1164	65198849	8,12998	2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65198849C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1162C>T	14.37:g.65198849C>T	ENSP00000378183:p.His388Tyr					PLEKHG3_uc001xhn.1_Missense_Mutation_p.H332Y|PLEKHG3_uc001xhp.2_Missense_Mutation_p.H388Y|PLEKHG3_uc010aqh.1_5'UTR	p.H388Y	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	10	1431	+			388			PH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1162C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.580252	0.65992	0.0	9.3E-4	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.75050	-0.9;-0.9	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.177856	0.47852	D	0.000203	T	0.73369	0.3578	L	0.39566	1.225	0.80722	D	1	B;B	0.21905	0.062;0.029	B;B	0.36186	0.219;0.061	T	0.72792	-0.4186	10	0.66056	D	0.02	.	17.2246	0.86966	0.0:1.0:0.0:0.0	.	388;332	A1L390;A1L390-3	PKHG3_HUMAN;.	Y	332;388	ENSP00000247226:H332Y;ENSP00000378183:H388Y	ENSP00000247226:H332Y	H	+	1	0	PLEKHG3	64268602	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.595000	0.82710	2.351000	0.79841	0.555000	0.69702	CAC		0.547	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		11	28	0	0	0	0.000978	0	11	28				
FAM71D	161142	broad.mit.edu	37	14	67664975	67664975	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:67664975T>G	ENST00000556046.1	+	3	321	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	33						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TCAAAATATGTTGGATGGAGG	0.433																																							uc001xja.1		NA																	0				ovary(1)	1						c.(97-99)TTG>GTG		hypothetical protein LOC161142							181.0	149.0	160.0					14																	67664975		2203	4300	6503	SO:0001583	missense	161142							g.chr14:67664975T>G		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.97T>G	14.37:g.67664975T>G	ENSP00000451865:p.Leu33Val					FAM71D_uc010tsv.1_RNA|FAM71D_uc001xiz.2_RNA|FAM71D_uc010aqn.1_RNA	p.L33V	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	3	351	+		all_hematologic(31;0.0116)	33					Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	37	c.97T>G		.	.	.	.	.	.	.	.	.	.	T	14.72	2.619653	0.46736	.	.	ENSG00000172717	ENST00000524532;ENST00000530728	T;T	0.70986	-0.53;0.61	5.0	-1.62	0.08372	.	0.105167	0.35407	N	0.003232	T	0.76357	0.3976	M	0.72894	2.215	.	.	.	D	0.76494	0.999	D	0.78314	0.991	T	0.75031	-0.3461	9	0.56958	D	0.05	-6.3852	4.9358	0.13939	0.1624:0.4398:0.0:0.3979	.	33	Q8N9W8	FA71D_HUMAN	V	33	ENSP00000436280:L33V;ENSP00000433183:L33V	ENSP00000431905:L33V	L	+	1	2	FAM71D	66734728	0.325000	0.24660	0.314000	0.25224	0.693000	0.40251	-0.444000	0.06854	-0.209000	0.10156	-0.415000	0.06103	TTG		0.433	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		16	62	0	0	0	0.00499	0	16	62				
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Nonsense_Mutation	SNP	G	G	T	rs149109491	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:70515701G>T	ENST00000381269.2	-	7	2943	c.2190C>A	c.(2188-2190)taC>taA	p.Y730*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Y724*|SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.Y101*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000533541.1_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Y727*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(2188-2190)TAC>TAA		solute carrier family 8 (sodium/calcium							99.0	80.0	86.0					14																	70515701		2203	4300	6503	SO:0001587	stop_gained	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515701G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2190C>A	14.37:g.70515701G>T	ENSP00000370669:p.Tyr730*					SLC8A3_uc001xlu.2_Nonsense_Mutation_p.Y87*|SLC8A3_uc001xlv.2_Nonsense_Mutation_p.Y101*|SLC8A3_uc001xlw.2_Nonsense_Mutation_p.Y727*|SLC8A3_uc001xlx.2_Nonsense_Mutation_p.Y728*|SLC8A3_uc001xlz.2_Nonsense_Mutation_p.Y724*|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Nonsense_Mutation_p.Y87*	p.Y730*	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	2944	-			730			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Nonsense_Mutation	SNP	ENST00000381269.2	37	c.2190C>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200127	0.97371	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	.	.	.	5.37	-3.0	0.05480	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4047	0.67073	0.5144:0.0:0.4856:0.0	.	.	.	.	X	724;730;728;101;87;727;728;87	.	ENSP00000216568:Y101X	Y	-	3	2	SLC8A3	69585454	0.033000	0.19621	0.975000	0.42487	0.992000	0.81027	-0.769000	0.04710	-0.584000	0.05913	-0.263000	0.10527	TAC		0.572	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	32	1	0	3.07112e-06	0.000978	3.6122e-06	12	32				
SIPA1L1	26037	broad.mit.edu	37	14	72190593	72190593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:72190593G>A	ENST00000555818.1	+	16	4849	c.4501G>A	c.(4501-4503)Gac>Aac	p.D1501N	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1480N|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D955N|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1480N	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1501					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGATTTATGGACACGAGAAA	0.458																																							uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(4501-4503)GAC>AAC		signal-induced proliferation-associated 1 like							70.0	77.0	75.0					14																	72190593		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190593G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4501G>A	14.37:g.72190593G>A	ENSP00000450832:p.Asp1501Asn					SIPA1L1_uc001xmt.2_Missense_Mutation_p.D1480N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.D1480N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.D1501N|SIPA1L1_uc010ttm.1_Missense_Mutation_p.D955N|SIPA1L1_uc001xmw.2_Missense_Mutation_p.D266N	p.D1501N	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4849	+			1501					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4501G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849502	0.91277	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.85556	-1.15;-1.16;-1.15;-2.0	5.38	5.38	0.77491	.	0.042790	0.85682	D	0.000000	D	0.87107	0.6095	N	0.17082	0.46	0.80722	D	1	B;D;P;B;P	0.63880	0.222;0.993;0.714;0.1;0.833	B;D;B;B;P	0.72338	0.046;0.977;0.349;0.034;0.554	D	0.88346	0.2978	10	0.52906	T	0.07	-32.7648	19.4992	0.95086	0.0:0.0:1.0:0.0	.	955;1501;955;1480;1501	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	N	1480;1501;1480;955	ENSP00000370630:D1480N;ENSP00000450832:D1501N;ENSP00000351352:D1480N;ENSP00000440682:D955N	ENSP00000351352:D1501N	D	+	1	0	SIPA1L1	71260346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.689000	0.91719	0.655000	0.94253	GAC		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	53	0	0	0	0.00308	0	8	53				
LTBP2	4053	broad.mit.edu	37	14	75019645	75019645	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:75019645A>C	ENST00000261978.4	-	5	1528	c.1142T>G	c.(1141-1143)cTg>cGg	p.L381R	LTBP2_ENST00000556690.1_Missense_Mutation_p.L381R|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	381					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGCTGTACAGGGTGGTGGT	0.592																																							uc001xqa.2		NA																	0				liver(1)|skin(1)	2						c.(1141-1143)CTG>CGG		latent transforming growth factor beta binding							84.0	62.0	69.0					14																	75019645		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75019645A>C		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1142T>G	14.37:g.75019645A>C	ENSP00000261978:p.Leu381Arg						p.L381R	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	5	1529	-			381					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1142T>G	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.597772	0.87055	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.85258	-1.95;-1.96	4.83	4.83	0.62350	.	0.000000	0.33364	N	0.004992	D	0.91362	0.7275	M	0.73962	2.25	0.31965	N	0.607884	D	0.76494	0.999	D	0.87578	0.998	D	0.92430	0.5953	10	0.87932	D	0	.	13.1447	0.59454	1.0:0.0:0.0:0.0	.	381	Q14767	LTBP2_HUMAN	R	381	ENSP00000261978:L381R;ENSP00000451477:L381R	ENSP00000261978:L381R	L	-	2	0	LTBP2	74089398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.595000	0.90840	2.037000	0.60232	0.449000	0.29647	CTG		0.592	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		8	15	0	0	0	0.00308	0	8	15				
NRXN3	9369	broad.mit.edu	37	14	79933641	79933641	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:79933641C>A	ENST00000557594.1	+	2	1278	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	NRXN3_ENST00000281127.7_Silent_p.R109R|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.R741R|NRXN3_ENST00000554719.1_Silent_p.R741R|NRXN3_ENST00000428277.2_Silent_p.R109R	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R109W(1)|p.R741W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCAGCACGCGGTCTGACCG	0.577																																							uc001xun.2		NA																	2	Substitution - Missense(2)		prostate(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2221-2223)CGG>AGG		neurexin 3 isoform 1 precursor							110.0	92.0	98.0					14																	79933641		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79933641C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.325C>A	14.37:g.79933641C>A						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.R109R|NRXN3_uc010asw.2_Silent_p.R109R|NRXN3_uc001xur.3_Silent_p.R109R	p.R741R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2712	+		Renal(4;0.00876)	1114			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2221C>A																																																																																					0.577	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		22	31	1	0	1.10923e-09	0.00278	1.4661e-09	22	31				
TSHR	7253	broad.mit.edu	37	14	81610378	81610378	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:81610378C>A	ENST00000541158.2	+	11	2298	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.S659Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	659			Missing (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GTTAGCAACTCCAAAATCTTG	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1975-1977)TCC>TAC		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						176.0	174.0	175.0					14																	81610378		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610378C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1976C>A	14.37:g.81610378C>A	ENSP00000441235:p.Ser659Tyr						p.S659Y	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	2132	+			659		Missing (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas).	Extracellular (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1976C>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427710	0.62733	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.95588	-3.75;-3.75	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98766	1.0726	10	0.87932	D	0	.	18.4246	0.90605	0.0:1.0:0.0:0.0	.	659	F5GYU5	.	Y	659;306;659	ENSP00000441235:S659Y;ENSP00000298171:S659Y	ENSP00000298171:S659Y	S	+	2	0	TSHR	80680131	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.818000	0.86416	2.350000	0.79820	0.561000	0.74099	TCC		0.448	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		45	70	1	0	1.35964e-18	0.00361	2.26921e-18	45	70				
UNC79	57578	broad.mit.edu	37	14	94044226	94044226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94044226C>A	ENST00000393151.2	+	18	2250	c.2250C>A	c.(2248-2250)caC>caA	p.H750Q	UNC79_ENST00000256339.4_Missense_Mutation_p.H573Q|UNC79_ENST00000555664.1_Missense_Mutation_p.H750Q|UNC79_ENST00000553484.1_Missense_Mutation_p.H750Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	750					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTTCAGCACAATATGCTTA	0.453																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1717-1719)CAC>CAA		hypothetical protein LOC57578							254.0	231.0	239.0					14																	94044226		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044226C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2250C>A	14.37:g.94044226C>A	ENSP00000376858:p.His750Gln					KIAA1409_uc001ybs.1_Missense_Mutation_p.H573Q	p.H573Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	15	1802	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	750					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1719C>A		.	.	.	.	.	.	.	.	.	.	C	15.78	2.934067	0.52866	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.22	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	L	0.29908	0.895	0.38827	D	0.955756	D	0.71674	0.998	D	0.67725	0.953	T	0.03795	-1.1003	10	0.24483	T	0.36	-19.2138	10.1466	0.42767	0.0:0.7814:0.0:0.2186	.	750	C9JQL1	.	Q	573;750;750;750;750	ENSP00000256339:H573Q;ENSP00000450868:H750Q;ENSP00000451360:H750Q;ENSP00000376858:H750Q	ENSP00000256339:H573Q	H	+	3	2	KIAA1409	93113979	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.197000	0.43143	0.650000	0.86243	CAC		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		23	104	1	0	3.5997e-14	0.002299	5.43536e-14	23	104				
FAM181A	90050	broad.mit.edu	37	14	94395378	94395378	+	Silent	SNP	C	C	A	rs34468063|rs200855077	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94395378C>A	ENST00000267594.5	+	3	1240	c.933C>A	c.(931-933)ccC>ccA	p.P311P	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.P249P|FAM181A_ENST00000557719.1_Silent_p.P249P|FAM181A_ENST00000556222.1_Silent_p.P249P	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	311										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CAGCCTTTCCCGGGGAGCTGG	0.672																																							uc001ybz.1		NA																	0					0						c.(931-933)CCC>CCA		hypothetical protein LOC90050							29.0	32.0	31.0					14																	94395378		2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94395378C>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.933C>A	14.37:g.94395378C>A						C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.P249P|FAM181A_uc001yca.1_Silent_p.P249P	p.P311P	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	1240	+			311					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.933C>A	CCDS9914.1																																																																																				0.672	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		12	23	1	0	5.50884e-06	0.001368	6.41659e-06	12	23				
SERPINA9	327657	broad.mit.edu	37	14	94931119	94931119	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94931119C>T	ENST00000380365.3	-	4	1053	c.975G>A	c.(973-975)atG>atA	p.M325I	RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.M245I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M243I|SERPINA9_ENST00000546329.1_Missense_Mutation_p.M307I|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M194I|SERPINA9_ENST00000337425.5_Missense_Mutation_p.M343I			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	325					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTTGGATGCCCATCTTCGGGA	0.413																																							uc001ydf.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1027-1029)ATG>ATA		serine (or cysteine) proteinase inhibitor, clade							101.0	89.0	93.0					14																	94931119		1850	4097	5947	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94931119C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.975G>A	14.37:g.94931119C>T	ENSP00000369723:p.Met325Ile					SERPINA9_uc001yde.2_Missense_Mutation_p.M243I|SERPINA9_uc010avc.2_Missense_Mutation_p.M194I|SERPINA9_uc001ydg.2_Missense_Mutation_p.M307I|SERPINA9_uc001ydh.1_Missense_Mutation_p.M343I|SERPINA9_uc001ydi.1_Missense_Mutation_p.M307I	p.M343I	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	4	1190	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	325					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1029G>A		.	.	.	.	.	.	.	.	.	.	C	8.339	0.828370	0.16749	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	3.96	3.96	0.45880	Serpin domain (3);	0.228721	0.38058	N	0.001837	D	0.87771	0.6261	M	0.79693	2.465	0.39250	D	0.964026	B;B;B;P;B	0.37708	0.032;0.281;0.241;0.606;0.129	B;B;B;B;B	0.34652	0.053;0.101;0.061;0.187;0.149	D	0.89846	0.4006	10	0.62326	D	0.03	.	11.4617	0.50215	0.18:0.82:0.0:0.0	.	307;325;245;343;243	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	I	245;243;194;343;325;307	ENSP00000414092:M245I;ENSP00000298845:M243I;ENSP00000409012:M194I;ENSP00000337133:M343I;ENSP00000369723:M325I;ENSP00000445476:M307I	ENSP00000298845:M243I	M	-	3	0	SERPINA9	94000872	1.000000	0.71417	0.997000	0.53966	0.258000	0.26162	6.223000	0.72257	2.226000	0.72624	0.555000	0.69702	ATG		0.413	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		11	36	0	0	0	0.001368	0	11	36				
SERPINA12	145264	broad.mit.edu	37	14	94953696	94953696	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94953696C>G	ENST00000341228.2	-	6	1984	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E397Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	397					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTATTTTCTCGCTGTAAATC	0.522																																							uc001ydj.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1189-1191)GAG>CAG		serine (or cysteine) proteinase inhibitor, clade							129.0	110.0	117.0					14																	94953696		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953696C>G	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1189G>C	14.37:g.94953696C>G	ENSP00000342109:p.Glu397Gln						p.E397Q	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	6	1985	-			397						Missense_Mutation	SNP	ENST00000341228.2	37	c.1189G>C	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	0.637	-0.814808	0.02776	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85171	-1.95;-1.95	5.6	-0.376	0.12505	Serpin domain (3);	2.745680	0.01120	N	0.005775	T	0.77280	0.4107	N	0.25286	0.73	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.59386	-0.7464	10	0.31617	T	0.26	.	9.0326	0.36269	0.0:0.4837:0.3765:0.1398	.	397	Q8IW75	SPA12_HUMAN	Q	397	ENSP00000451738:E397Q;ENSP00000342109:E397Q	ENSP00000342109:E397Q	E	-	1	0	SERPINA12	94023449	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.999000	0.03697	-0.804000	0.04410	-3.038000	0.00071	GAG		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		9	60	0	0	0	0.000978	0	9	60				
SERPINA12	145264	broad.mit.edu	37	14	94964309	94964309	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94964309C>A	ENST00000341228.2	-	3	1221	c.426G>T	c.(424-426)caG>caT	p.Q142H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q142H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	142			Q -> K (in dbSNP:rs17090972).		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTGCAGCCTCTGGTCAATGA	0.468																																							uc001ydj.2		NA																	0		p.Q142R(1)		central_nervous_system(2)|ovary(1)|lung(1)	4						c.(424-426)CAG>CAT		serine (or cysteine) proteinase inhibitor, clade							128.0	125.0	126.0					14																	94964309		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964309C>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.426G>T	14.37:g.94964309C>A	ENSP00000342109:p.Gln142His						p.Q142H	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1222	-			142						Missense_Mutation	SNP	ENST00000341228.2	37	c.426G>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	8.424	0.847112	0.17034	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88277	-2.36;-2.36	5.49	-2.48	0.06423	Serpin domain (3);	1.613040	0.03265	N	0.183779	D	0.84056	0.5388	L	0.53780	1.695	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.65245	-0.6215	10	0.52906	T	0.07	.	2.1967	0.03913	0.1019:0.3159:0.2745:0.3078	.	142	Q8IW75	SPA12_HUMAN	H	142	ENSP00000451738:Q142H;ENSP00000342109:Q142H	ENSP00000342109:Q142H	Q	-	3	2	SERPINA12	94034062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.479000	0.00983	-0.179000	0.10654	-0.740000	0.03531	CAG		0.468	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		31	45	1	0	1.26612e-14	0.003271	1.94021e-14	31	45				
SERPINA4	5267	broad.mit.edu	37	14	95029947	95029947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:95029947G>A	ENST00000557004.1	+	2	549	c.128G>A	c.(127-129)gGt>gAt	p.G43D	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G43D|SERPINA4_ENST00000555095.1_Missense_Mutation_p.G43D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	43					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGGAGACAGGTGAGGGCTCC	0.562																																							uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(127-129)GGT>GAT		serine (or cysteine) proteinase inhibitor, clade							75.0	69.0	71.0					14																	95029947		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95029947G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.128G>A	14.37:g.95029947G>A	ENSP00000450838:p.Gly43Asp					SERPINA4_uc010avd.2_Missense_Mutation_p.G80D|SERPINA4_uc001ydl.2_Missense_Mutation_p.G43D	p.G43D	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	194	+			43					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.128G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738610	0.15642	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82081	-1.57;-1.57;-1.57	3.86	-5.16	0.02857	Serpin domain (1);	1.593780	0.04843	N	0.440880	T	0.64571	0.2610	N	0.08118	0	0.09310	N	1	P;B	0.44195	0.828;0.207	B;B	0.39339	0.297;0.106	T	0.56625	-0.7948	10	0.10377	T	0.69	.	13.7715	0.63029	0.7445:0.0:0.2555:0.0	.	43;43	B2R815;P29622	.;KAIN_HUMAN	D	43	ENSP00000450838:G43D;ENSP00000451172:G43D;ENSP00000298841:G43D	ENSP00000298841:G43D	G	+	2	0	SERPINA4	94099700	0.018000	0.18449	0.000000	0.03702	0.016000	0.09150	0.519000	0.22862	-1.217000	0.02604	-0.880000	0.02959	GGT		0.562	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		14	33	0	0	0	0.00245	0	14	33				
TCL1B	9623	broad.mit.edu	37	14	96152899	96152899	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:96152899G>T	ENST00000340722.7	+	1	146	c.95G>T	c.(94-96)tGg>tTg	p.W32L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	32										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GGGAGAACCTGGGTGACTGTG	0.647																																							uc001yez.2		NA																	0				ovary(1)	1						c.(94-96)TGG>TTG		T-cell leukemia/lymphoma 1B							100.0	92.0	95.0					14																	96152899		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96152899G>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.95G>T	14.37:g.96152899G>T	ENSP00000343223:p.Trp32Leu					TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.W32L	p.W32L	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	137	+		all_cancers(154;0.103)	32					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.95G>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680768	0.47886	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.67523	-0.27	2.78	2.78	0.32641	.	.	.	.	.	T	0.79604	0.4474	M	0.79123	2.44	0.21220	N	0.99976	D	0.89917	1.0	D	0.91635	0.999	T	0.65586	-0.6132	9	0.72032	D	0.01	.	9.2339	0.37455	0.0:0.0:1.0:0.0	.	32	O95988	TCL1B_HUMAN	L	32	ENSP00000343223:W32L	ENSP00000343223:W32L	W	+	2	0	TCL1B	95222652	0.763000	0.28462	0.363000	0.25875	0.009000	0.06853	1.471000	0.35365	1.879000	0.54435	0.455000	0.32223	TGG		0.647	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			18	17	1	0	1.67942e-08	0.006122	2.14882e-08	18	17				
OR4M2	390538	broad.mit.edu	37	15	22368785	22368785	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:22368785T>C	ENST00000332663.2	+	1	308	c.210T>C	c.(208-210)gaT>gaC	p.D70D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		CCTTCCTTGATATTTGGTACT	0.418																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(208-210)GAT>GAC		olfactory receptor, family 4, subfamily M,							454.0	390.0	412.0					15																	22368785		2203	4300	6503	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368785T>C	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.210T>C	15.37:g.22368785T>C						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.D70D	NM_001004719	NP_001004719	Q8NGB6	OR4M2_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)	1	210	+		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)	70			Helical; Name=2; (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.210T>C	CCDS32172.1																																																																																				0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			35	164	0	0	0	0.004878	0	35	164				
NPAP1	23742	broad.mit.edu	37	15	24921181	24921181	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:24921181G>T	ENST00000329468.2	+	1	641	c.167G>T	c.(166-168)cGt>cTt	p.R56L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	56					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R56L(1)									CGGAACGCCCGTCGCAGGCCT	0.751																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(166-168)CGT>CTT		hypothetical protein LOC23742							15.0	18.0	17.0					15																	24921181		2162	4241	6403	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921181G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.167G>T	15.37:g.24921181G>T	ENSP00000333735:p.Arg56Leu						p.R56L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	641	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	56						Missense_Mutation	SNP	ENST00000329468.2	37	c.167G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.79	1.743064	0.30865	.	.	ENSG00000185823	ENST00000329468	T	0.07688	3.17	1.09	-2.18	0.07037	.	.	.	.	.	T	0.03827	0.0108	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.46610	-0.9179	9	0.11485	T	0.65	.	1.6783	0.02827	0.3547:0.0:0.3499:0.2953	.	56	Q9NZP6	CO002_HUMAN	L	56	ENSP00000333735:R56L	ENSP00000333735:R56L	R	+	2	0	C15orf2	22472274	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.506000	0.06359	-0.849000	0.04158	-0.516000	0.04426	CGT		0.751	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		10	9	1	0	1.11149e-13	0.008291	1.65918e-13	10	9				
RYR3	6263	broad.mit.edu	37	15	33878306	33878306	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:33878306C>A	ENST00000389232.4	+	16	1847	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAAGCACGGGCGGAATCACAA	0.473																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1777-1779)CGG>AGG		ryanodine receptor 3							106.0	99.0	101.0					15																	33878306		1994	4156	6150	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33878306C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1777C>A	15.37:g.33878306C>A						RYR3_uc010bar.2_Silent_p.R593R	p.R593R	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	16	1847	+		all_lung(180;7.18e-09)	593			Cytoplasmic (By similarity).|B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1777C>A	CCDS45210.1																																																																																				0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	11	1	0	6.31663e-08	0.003163	7.96204e-08	14	11				
RYR3	6263	broad.mit.edu	37	15	34078113	34078113	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:34078113G>C	ENST00000389232.4	+	66	9589	c.9519G>C	c.(9517-9519)ctG>ctC	p.L3173L	RYR3_ENST00000415757.3_Silent_p.L3173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3173					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCATCCTGGGCAACATTC	0.577																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9517-9519)CTG>CTC		ryanodine receptor 3							150.0	162.0	158.0					15																	34078113		2148	4273	6421	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078113G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9519G>C	15.37:g.34078113G>C						RYR3_uc010bar.2_Silent_p.L3173L	p.L3173L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9589	+		all_lung(180;7.18e-09)	3173					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9519G>C	CCDS45210.1																																																																																				0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			25	94	0	0	0	0.003954	0	25	94				
KNSTRN	90417	broad.mit.edu	37	15	40675101	40675101	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:40675101G>A	ENST00000249776.8	+	1	180	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	KNSTRN_ENST00000416151.2_Missense_Mutation_p.C22Y|KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000448395.2_Missense_Mutation_p.C22Y	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TCTACAGAGTGCGATTCCCAC	0.572																																							uc001zll.2		NA																	0				ovary(1)|skin(1)	2						c.(64-66)TGC>TAC		TRAF4 associated factor 1 isoform a							41.0	44.0	43.0					15																	40675101		1884	4108	5992	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40675101G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.65G>A	15.37:g.40675101G>A	ENSP00000249776:p.Cys22Tyr					C15orf23_uc010ucp.1_Missense_Mutation_p.C22Y|C15orf23_uc001zlo.2_Missense_Mutation_p.C22Y|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.C22Y	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	180	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	22						Missense_Mutation	SNP	ENST00000249776.8	37	c.65G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255129	0.22965	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.22945	1.93;1.93;1.93	4.63	-1.2	0.09554	.	2.172110	0.01689	N	0.026580	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	P;P;P	0.35124	0.485;0.485;0.485	B;B;B	0.34652	0.132;0.187;0.134	T	0.18999	-1.0319	10	0.30854	T	0.27	0.2696	8.0617	0.30638	0.0:0.4273:0.2817:0.291	.	22;22;22	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	Y	22	ENSP00000249776:C22Y;ENSP00000391233:C22Y;ENSP00000393001:C22Y	ENSP00000249776:C22Y	C	+	2	0	C15orf23	38462393	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.121000	0.10643	0.000000	0.14550	-0.175000	0.13238	TGC		0.572	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		10	28	0	0	0	0.006214	0	10	28				
CASC5	57082	broad.mit.edu	37	15	40917839	40917839	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:40917839G>T	ENST00000346991.5	+	11	5844		c.e11+1		CASC5_ENST00000399668.2_Splice_Site			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5						acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATCGGGAGGTGAGCTCTGT	0.338																																							uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.e11+1		cancer susceptibility candidate 5 isoform 1							35.0	31.0	32.0					15																	40917839		1824	4084	5908	SO:0001630	splice_region_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917839G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5454+1G>T	15.37:g.40917839G>T						CASC5_uc001zme.2_Missense_Mutation_p.V1793L|CASC5_uc010bbt.1_Splice_Site_p.E1792_splice	p.E1818_splice	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5615	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)						Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Splice_Site	SNP	ENST00000346991.5	37	c.5454_splice	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874569	0.33069	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8179	0.92085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASC5	38705131	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	6.168000	0.71908	2.697000	0.92050	0.557000	0.71058	.		0.338	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	Intron	17	17	1	0	2.23348e-06	0.004007	2.64207e-06	17	17				
RMDN3	55177	broad.mit.edu	37	15	41046915	41046915	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41046915C>G	ENST00000260385.6	-	1	1134	c.67G>C	c.(67-69)Ggc>Cgc	p.G23R	RMDN3_ENST00000338376.3_Missense_Mutation_p.G23R|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	23					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AATCCAAGGCCGGCGGCGGTA	0.657																																							uc001zmo.1		NA																	0					0						c.(67-69)GGC>CGC		family with sequence similarity 82, member A2							44.0	45.0	44.0					15																	41046915		2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41046915C>G	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.67G>C	15.37:g.41046915C>G	ENSP00000260385:p.Gly23Arg					FAM82A2_uc001zmp.1_Missense_Mutation_p.G23R|FAM82A2_uc001zmq.1_Missense_Mutation_p.G23R	p.G23R	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			2	211	-			23			Helical; (Potential).		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.67G>C	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621478	0.87460	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.54071	0.59;0.59	5.59	4.66	0.58398	.	0.052509	0.85682	D	0.000000	T	0.61502	0.2352	L	0.34521	1.04	0.37718	D	0.924813	D	0.89917	1.0	D	0.75484	0.986	T	0.69113	-0.5231	10	0.87932	D	0	-17.0601	13.26	0.60101	0.1592:0.8408:0.0:0.0	.	23	Q96TC7	RMD3_HUMAN	R	23	ENSP00000260385:G23R;ENSP00000342493:G23R	ENSP00000260385:G23R	G	-	1	0	FAM82A2	38834207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.831000	0.55776	1.449000	0.47699	0.655000	0.94253	GGC		0.657	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		11	13	0	0	0	0.008291	0	11	13				
VPS18	57617	broad.mit.edu	37	15	41192839	41192839	+	Missense_Mutation	SNP	G	G	T	rs34865655	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41192839G>T	ENST00000220509.5	+	4	2162	c.1823G>T	c.(1822-1824)cGc>cTc	p.R608L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	608					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACATCCCCCGCCAGCTTGTA	0.632																																							uc001zne.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1822-1824)CGC>CTC		vacuolar protein sorting 18							74.0	74.0	74.0					15																	41192839		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192839G>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1823G>T	15.37:g.41192839G>T	ENSP00000220509:p.Arg608Leu						p.R608L	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2162	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	608					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1823G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.934406	0.34096	.	.	ENSG00000104142	ENST00000220509	T	0.20463	2.07	5.84	4.93	0.64822	.	0.169949	0.52532	D	0.000078	T	0.18467	0.0443	L	0.50333	1.59	0.80722	D	1	B	0.22541	0.071	B	0.24006	0.05	T	0.08086	-1.0739	10	0.46703	T	0.11	-26.5698	5.5243	0.16949	0.197:0.1607:0.6423:0.0	.	608	Q9P253	VPS18_HUMAN	L	608	ENSP00000220509:R608L	ENSP00000220509:R608L	R	+	2	0	VPS18	38980131	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.774000	0.55341	1.496000	0.48567	-0.215000	0.12644	CGC		0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			32	47	1	0	1.55811e-20	0.008361	2.67794e-20	32	47				
PDIA3	2923	broad.mit.edu	37	15	44058156	44058156	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:44058156A>T	ENST00000300289.5	+	7	939	c.791A>T	c.(790-792)tAc>tTc	p.Y264F	PDIA3_ENST00000538521.1_Missense_Mutation_p.Y244F	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	264					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTTATTGCTTACTATGATGTG	0.358																																							uc001zsu.2		NA																	0				ovary(1)|skin(1)	2						c.(790-792)TAC>TTC		protein disulfide-isomerase A3 precursor							105.0	103.0	103.0					15																	44058156		2198	4297	6495	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44058156A>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.791A>T	15.37:g.44058156A>T	ENSP00000300289:p.Tyr264Phe					PDIA3_uc010bdp.2_Missense_Mutation_p.Y244F|PDIA3_uc010ued.1_Missense_Mutation_p.Y38F	p.Y264F	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	7	939	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	264					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.791A>T	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060273	0.76074	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.28666	1.6;1.6	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.60845	1.875	0.80722	D	1	P;P	0.44090	0.826;0.672	B;B	0.39217	0.294;0.27	T	0.12142	-1.0559	10	0.46703	T	0.11	.	16.0476	0.80731	1.0:0.0:0.0:0.0	.	244;264	G5EA52;P30101	.;PDIA3_HUMAN	F	264;239;38;244	ENSP00000300289:Y264F;ENSP00000438260:Y244F	ENSP00000300289:Y264F	Y	+	2	0	PDIA3	41845448	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.324000	0.96373	2.190000	0.69967	0.460000	0.39030	TAC		0.358	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		29	15	0	0	0	0.007291	0	29	15				
LMAN1L	79748	broad.mit.edu	37	15	75115996	75115996	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:75115996C>A	ENST00000309664.5	+	12	1435	c.1296C>A	c.(1294-1296)ctC>ctA	p.L432L	CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Silent_p.L420L|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	432						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGGGCCTCCTGCAGGAGG	0.617																																							uc002ayt.1		NA																	0					0						c.(1294-1296)CTC>CTA		lectin, mannose-binding, 1 like precursor							53.0	53.0	53.0					15																	75115996		2197	4295	6492	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75115996C>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1296C>A	15.37:g.75115996C>A						LMAN1L_uc010bke.1_Silent_p.L420L|CPLX3_uc002ayu.1_5'Flank	p.L432L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			12	1298	+			432			Lumenal (Potential).		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1296C>A	CCDS10270.1																																																																																				0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			20	23	1	0	1.50039e-11	0.001882	2.10463e-11	20	23				
CSPG4	1464	broad.mit.edu	37	15	75981642	75981642	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:75981642C>T	ENST00000308508.5	-	3	1856	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	588	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGTGAGGCCCTCACAGGCAG	0.652																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1762-1764)GAG>GAA		chondroitin sulfate proteoglycan 4 precursor							26.0	29.0	28.0					15																	75981642		2196	4292	6488	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981642C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1764G>A	15.37:g.75981642C>T							p.E588E	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1857	-			588			Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1764G>A	CCDS10284.1																																																																																				0.652	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	23	0	0	0	0.004672	0	3	23				
WDR61	80349	broad.mit.edu	37	15	78577629	78577629	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:78577629G>A	ENST00000267973.2	-	10	1073	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	WDR61_ENST00000558311.1_Missense_Mutation_p.H268Y|WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558459.1_Missense_Mutation_p.H175Y			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	268					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AAGAAGGTGTGAACACAAGTC	0.373																																							uc002bdn.2		NA																	0				ovary(1)|skin(1)	2						c.(802-804)CAC>TAC		WD repeat domain 61							151.0	129.0	136.0					15																	78577629		2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78577629G>A		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.802C>T	15.37:g.78577629G>A	ENSP00000267973:p.His268Tyr					WDR61_uc002bdo.2_Missense_Mutation_p.H268Y	p.H268Y	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN			10	878	-			268			WD 6.		D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.802C>T	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287898	0.80803	.	.	ENSG00000140395	ENST00000267973	T	0.60299	0.2	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146921	0.64402	D	0.000008	T	0.75413	0.3846	M	0.78344	2.41	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	T	0.76664	-0.2876	10	0.56958	D	0.05	-7.3973	19.0512	0.93046	0.0:0.0:1.0:0.0	.	268	Q9GZS3	WDR61_HUMAN	Y	268	ENSP00000267973:H268Y	ENSP00000267973:H268Y	H	-	1	0	WDR61	76364684	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.650000	0.74368	2.735000	0.93741	0.655000	0.94253	CAC		0.373	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		13	31	0	0	0	0.006122	0	13	31				
IL16	3603	broad.mit.edu	37	15	81517848	81517848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:81517848C>A	ENST00000302987.4	+	1	108	c.108C>A	c.(106-108)agC>agA	p.S36R	IL16_ENST00000394660.2_Missense_Mutation_p.S36R			Q14005	IL16_HUMAN	interleukin 16	36					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGGCTCTAGCCCTGATGAGA	0.517																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(106-108)AGC>AGA		interleukin 16 isoform 2							87.0	88.0	88.0					15																	81517848		2006	4187	6193	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517848C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.108C>A	15.37:g.81517848C>A	ENSP00000302935:p.Ser36Arg					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.S36R|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S78R|IL16_uc002bgg.2_Missense_Mutation_p.S36R	p.S36R	NM_172217	NP_757366	Q14005	IL16_HUMAN			2	484	+			36					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.108C>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041679	0.35989	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.34472	1.38;1.36	4.18	2.11	0.27256	.	0.000000	0.45867	D	0.000340	T	0.53738	0.1815	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.55592	-0.8117	10	0.87932	D	0	.	8.6246	0.33881	0.0:0.7225:0.0:0.2775	.	36;36	Q14005;Q14005-2	IL16_HUMAN;.	R	36;78;36;36	ENSP00000378155:S36R;ENSP00000302935:S36R	ENSP00000302935:S36R	S	+	3	2	IL16	79304903	1.000000	0.71417	0.969000	0.41365	0.359000	0.29487	0.477000	0.22196	0.966000	0.38159	0.563000	0.77884	AGC		0.517	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	19	1	0	5.35267e-07	0.007413	6.49709e-07	18	19				
MEX3B	84206	broad.mit.edu	37	15	82336839	82336839	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:82336839C>T	ENST00000329713.4	-	2	807	c.372G>A	c.(370-372)cgG>cgA	p.R124R	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	124	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TGATCTCCCTCCGAGCCATGG	0.622																																							uc002bgq.1		NA																	0				breast(1)|kidney(1)	2						c.(370-372)CGG>CGA		mex-3 homolog B							53.0	52.0	53.0					15																	82336839		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336839C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.372G>A	15.37:g.82336839C>T							p.R124R	NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN			2	687	-			124			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.372G>A	CCDS10319.1																																																																																				0.622	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		6	19	0	0	0	0.00308	0	6	19				
ADAMTSL3	57188	broad.mit.edu	37	15	84582127	84582127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84582127G>T	ENST00000286744.5	+	16	2208	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G662*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	662						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACATGCGTGGGAGGTATTTG	0.488																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1984-1986)GGA>TGA		ADAMTS-like 3 precursor							35.0	38.0	37.0					15																	84582127		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582127G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1984G>T	15.37:g.84582127G>T	ENSP00000286744:p.Gly662*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.G662*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.G662*	p.G662*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2208	+			662					A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1984G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	42	9.591671	0.99214	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.05	5.05	0.67936	.	0.126742	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.4347	0.90640	0.0:0.0:1.0:0.0	.	.	.	.	X	662	.	ENSP00000286744:G662X	G	+	1	0	ADAMTSL3	82373131	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.776000	0.68924	2.328000	0.79073	0.563000	0.77884	GGA		0.488	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		13	13	1	0	4.3838e-07	0.001855	5.33905e-07	13	13				
ADAMTSL3	57188	broad.mit.edu	37	15	84611388	84611388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84611388G>T	ENST00000286744.5	+	18	2382	c.2158G>T	c.(2158-2160)Gga>Tga	p.G720*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G720*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	720	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTACCTGTGGAGTTGGAAT	0.542																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2158-2160)GGA>TGA		ADAMTS-like 3 precursor							94.0	95.0	94.0					15																	84611388		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611388G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2158G>T	15.37:g.84611388G>T	ENSP00000286744:p.Gly720*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.G720*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.G720*	p.G720*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2382	+			720			TSP type-1 5.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.2158G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	43	9.942953	0.99300	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	X	720	.	ENSP00000286744:G720X	G	+	1	0	ADAMTSL3	82402392	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.469000	0.90395	2.683000	0.91414	0.655000	0.94253	GGA		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		43	31	1	0	3.4345e-17	0.002852	5.53357e-17	43	31				
ADAMTSL3	57188	broad.mit.edu	37	15	84659891	84659891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84659891C>A	ENST00000286744.5	+	23	4122	c.3898C>A	c.(3898-3900)Cat>Aat	p.H1300N	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.H1300N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1300	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCACAACCATCTGTCTGT	0.468																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3898-3900)CAT>AAT		ADAMTS-like 3 precursor							257.0	236.0	243.0					15																	84659891		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84659891C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3898C>A	15.37:g.84659891C>A	ENSP00000286744:p.His1300Asn					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H1300N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H1300N	p.H1300N	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		23	4122	+			1300			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3898C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	3.799	-0.042000	0.07452	.	.	ENSG00000156218	ENST00000286744	T	0.64085	-0.08	5.34	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.527852	0.14526	N	0.314143	T	0.39253	0.1071	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.19877	-1.0292	10	0.24483	T	0.36	.	9.0022	0.36088	0.29:0.5897:0.1203:0.0	.	1300;1300	P82987-2;P82987	.;ATL3_HUMAN	N	1300	ENSP00000286744:H1300N	ENSP00000286744:H1300N	H	+	1	0	ADAMTSL3	82450895	0.784000	0.28713	0.253000	0.24343	0.240000	0.25518	2.170000	0.42443	1.222000	0.43521	-0.175000	0.13238	CAT		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		52	115	1	0	2.0833e-19	0.00361	3.50948e-19	52	115				
NTRK3	4916	broad.mit.edu	37	15	88679765	88679765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:88679765C>A	ENST00000360948.2	-	7	859	c.698G>T	c.(697-699)gGc>gTc	p.G233V	NTRK3_ENST00000357724.2_Missense_Mutation_p.G233V|NTRK3_ENST00000540489.2_Missense_Mutation_p.G233V|NTRK3_ENST00000317501.3_Missense_Mutation_p.G233V|NTRK3_ENST00000394480.2_Missense_Mutation_p.G233V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G233V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G233V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G135V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G233V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	233	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCCAGAGCCATTGCAAGT	0.562			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(697-699)GGC>GTC		neurotrophic tyrosine kinase, receptor, type 3							171.0	104.0	126.0					15																	88679765		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679765C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.698G>T	15.37:g.88679765C>A	ENSP00000354207:p.Gly233Val	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.G233V|NTRK3_uc002bmf.1_Missense_Mutation_p.G233V|NTRK3_uc010upl.1_Missense_Mutation_p.G135V|NTRK3_uc010bnh.1_Missense_Mutation_p.G233V|NTRK3_uc002bmg.2_Missense_Mutation_p.G233V	p.G233V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		7	860	-			233			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.698G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.474095	0.26423	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	N	0.10945	0.07	0.80722	D	1	D;D;B;D;D;B	0.89917	1.0;1.0;0.015;1.0;1.0;0.015	D;D;B;D;D;B	0.97110	1.0;1.0;0.086;1.0;0.999;0.086	T	0.53704	-0.8401	10	0.19147	T	0.46	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	135;233;233;233;233;233	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	V	233;233;233;233;135;233;233	ENSP00000377990:G233V;ENSP00000354207:G233V;ENSP00000350356:G233V;ENSP00000347397:G233V;ENSP00000437773:G135V;ENSP00000444673:G233V;ENSP00000318328:G233V	ENSP00000318328:G233V	G	-	2	0	NTRK3	86480769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.563000	0.67352	2.657000	0.90304	0.655000	0.94253	GGC		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				19	6	1	0	0.00887093	0.008871	0.00930319	19	6				
IFT140	9742	broad.mit.edu	37	16	1636199	1636199	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:1636199C>A	ENST00000426508.2	-	10	1450	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	363					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTGCCCTCTGCCCCGGGGCTG	0.582																																							uc002cmb.2		NA																	0		p.A363A(1)		ovary(3)|pancreas(1)|skin(1)	5						c.(1087-1089)GCA>TCA		intraflagellar transport 140							124.0	109.0	114.0					16																	1636199		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1636199C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1087G>T	16.37:g.1636199C>A	ENSP00000406012:p.Ala363Ser					IFT140_uc002clz.2_Missense_Mutation_p.A14S	p.A363S	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			10	1449	-		Hepatocellular(780;0.219)	363					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1087G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190820	0.01607	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.57595	0.39	5.13	0.341	0.15991	WD40/YVTN repeat-like-containing domain (1);	2.390590	0.01081	N	0.004999	T	0.38348	0.1037	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.05869	-1.0859	10	0.07813	T	0.8	.	0.5959	0.00736	0.2341:0.2749:0.2781:0.213	.	363	Q96RY7	IF140_HUMAN	S	363	ENSP00000406012:A363S	ENSP00000380562:A363S	A	-	1	0	IFT140	1576200	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.358000	0.07641	0.442000	0.26555	0.591000	0.81541	GCA		0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		26	67	1	0	3.01185e-09	0.003954	3.94467e-09	26	67				
ABCA3	21	broad.mit.edu	37	16	2334802	2334802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2334802C>T	ENST00000301732.5	-	24	4381	c.3681G>A	c.(3679-3681)atG>atA	p.M1227I	ABCA3_ENST00000382381.3_Missense_Mutation_p.M1169I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1227					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGATGGTGACCATCAGGAAGG	0.622																																							uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(3679-3681)ATG>ATA		ATP-binding cassette, sub-family A member 3							83.0	61.0	69.0					16																	2334802		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334802C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3681G>A	16.37:g.2334802C>T	ENSP00000301732:p.Met1227Ile					ABCA3_uc010bsk.1_Missense_Mutation_p.M1169I	p.M1227I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			24	4393	-		Ovarian(90;0.17)	1227			Helical; (Potential).		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3681G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	0.202	-1.044285	0.01997	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86164	-2.08	5.8	-3.2	0.05156	.	1.063570	0.07097	N	0.839767	T	0.58061	0.2096	N	0.01454	-0.855	0.47584	D	0.999466	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.59016	-0.7533	10	0.07990	T	0.79	.	0.3949	0.00417	0.3022:0.1877:0.2806:0.2295	.	1231;1227	Q4LE27;Q99758	.;ABCA3_HUMAN	I	1227;1231	ENSP00000301732:M1227I	ENSP00000301732:M1227I	M	-	3	0	ABCA3	2274803	0.012000	0.17670	0.177000	0.23020	0.948000	0.59901	-1.137000	0.03219	-0.383000	0.07858	-0.119000	0.15052	ATG		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	19	0	0	0	0.006214	0	10	19				
CCNF	899	broad.mit.edu	37	16	2489405	2489405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2489405C>T	ENST00000397066.4	+	7	734	c.646C>T	c.(646-648)Cag>Tag	p.Q216*		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	216					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGCTCATCAGGGATGTCT	0.522																																							uc002cqd.1		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(646-648)CAG>TAG		cyclin F							57.0	57.0	57.0					16																	2489405		2198	4300	6498	SO:0001587	stop_gained	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2489405C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.646C>T	16.37:g.2489405C>T	ENSP00000380256:p.Gln216*					CCNF_uc002cqe.1_5'UTR	p.Q216*	NM_001761	NP_001752	P41002	CCNF_HUMAN			7	734	+		Ovarian(90;0.17)	216					B2R8H3|Q96EG9	Nonsense_Mutation	SNP	ENST00000397066.4	37	c.646C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653820	0.67472	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	.	.	.	5.61	3.6	0.41247	.	0.300009	0.38436	N	0.001684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-21.6987	14.9922	0.71396	0.0:0.7293:0.2707:0.0	.	.	.	.	X	216;131	.	ENSP00000293968:Q131X	Q	+	1	0	CCNF	2429406	0.998000	0.40836	0.629000	0.29254	0.058000	0.15608	3.454000	0.52986	0.698000	0.31739	0.655000	0.94253	CAG		0.522	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		6	9	0	0	0	0.001984	0	6	9				
PRSS22	64063	broad.mit.edu	37	16	2906129	2906129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2906129G>C	ENST00000161006.3	-	3	300	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	PRSS22_ENST00000574768.1_Intron|LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGGTGAGCAGAGAACCTGCG	0.612																																							uc002cry.1		NA																	0				central_nervous_system(1)	1						c.(235-237)CTG>GTG		protease, serine, 22 precursor							66.0	65.0	65.0					16																	2906129		2198	4300	6498	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2906129G>C	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.235C>G	16.37:g.2906129G>C	ENSP00000161006:p.Leu79Val					PRSS22_uc002crz.1_Intron	p.L79V	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			3	301	-			79			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.235C>G	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900638	0.33535	.	.	ENSG00000005001	ENST00000161006	D	0.90385	-2.66	4.86	1.76	0.24704	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41500	D	0.000879	D	0.93064	0.7792	M	0.71920	2.185	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.90551	0.4509	10	0.62326	D	0.03	.	7.1924	0.25832	0.3708:0.0:0.6292:0.0	.	79	Q9GZN4	BSSP4_HUMAN	V	79	ENSP00000161006:L79V	ENSP00000161006:L79V	L	-	1	2	PRSS22	2846130	0.998000	0.40836	0.998000	0.56505	0.812000	0.45895	0.350000	0.20079	0.118000	0.18165	0.456000	0.33151	CTG		0.612	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		8	28	0	0	0	0.006214	0	8	28				
FLYWCH1	84256	broad.mit.edu	37	16	2980841	2980841	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2980841G>T	ENST00000253928.9	+	4	1161	c.756G>T	c.(754-756)ctG>ctT	p.L252L	FLYWCH1_ENST00000416288.2_Silent_p.L251L|FLYWCH1_ENST00000399667.2_Silent_p.L252L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	252						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCCTGTCACTGCTGAGCCTGC	0.706																																							uc002csd.2		NA																	0					0						c.(754-756)CTG>CTT		FLYWCH-type zinc finger 1 isoform a							8.0	10.0	9.0					16																	2980841		2010	4162	6172	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2980841G>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.756G>T	16.37:g.2980841G>T						FLYWCH1_uc002csb.2_Silent_p.L251L|FLYWCH1_uc002csc.2_Silent_p.L251L|FLYWCH1_uc010bsv.2_5'Flank	p.L252L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			4	1119	+			252					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.756G>T																																																																																					0.706	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		6	8	1	0	0.00198382	0.001984	0.00212531	6	8				
CREBBP	1387	broad.mit.edu	37	16	3777847	3777847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:3777847C>A	ENST00000262367.5	-	31	8010	c.7201G>T	c.(7201-7203)Ggg>Tgg	p.G2401W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G2363W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2401					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGGGTTCCCCAAGTGTCCC	0.652			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(7201-7203)GGG>TGG		CREB binding protein isoform a							86.0	82.0	83.0					16																	3777847		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777847C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7201G>T	16.37:g.3777847C>A	ENSP00000262367:p.Gly2401Trp					CREBBP_uc002cvw.2_Missense_Mutation_p.G2363W	p.G2401W	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7405	-		Ovarian(90;0.0266)	2401					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.7201G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	9.078	0.998606	0.19121	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.84800	-1.9;-1.82	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.90772	0.7103	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.66716	0.946;0.946	D	0.91401	0.5143	10	0.87932	D	0	-14.044	18.4233	0.90598	0.0:1.0:0.0:0.0	.	2431;2401	Q4LE28;Q92793	.;CBP_HUMAN	W	2401;2431;2363;936	ENSP00000262367:G2401W;ENSP00000371502:G2363W	ENSP00000262367:G2401W	G	-	1	0	CREBBP	3717848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.970000	0.70431	2.668000	0.90789	0.655000	0.94253	GGG		0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		32	53	1	0	9.78306e-22	0.009535	1.70377e-21	32	53				
SNX29	92017	broad.mit.edu	37	16	12492348	12492348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:12492348G>T	ENST00000566228.1	+	17	2014	c.1945G>T	c.(1945-1947)Gat>Tat	p.D649Y	SNX29_ENST00000323433.4_Missense_Mutation_p.D264Y|SNX29_ENST00000306030.3_Missense_Mutation_p.D264Y	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	649						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGTTTGTCGGATTTTGAAAT	0.488																																							uc002dby.3		NA																	0				ovary(1)	1						c.(790-792)GAT>TAT		sorting nexin 29							142.0	137.0	139.0					16																	12492348		1868	4115	5983	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12492348G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1945G>T	16.37:g.12492348G>T	ENSP00000456480:p.Asp649Tyr						p.D264Y	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN			10	846	+			264					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.790G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085590	0.76642	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.29908	0.895	0.34084	D	0.659889	.	.	.	.	.	.	T	0.66826	-0.5825	7	0.62326	D	0.03	-25.8209	17.1552	0.86790	0.0:0.0:1.0:0.0	.	.	.	.	Y	264	.	ENSP00000306940:D264Y	D	+	1	0	SNX29	12399849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.835000	0.75344	2.633000	0.89246	0.655000	0.94253	GAT		0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			24	51	1	0	1.32181e-22	0.007291	2.32729e-22	24	51				
MYH11	4629	broad.mit.edu	37	16	15797965	15797965	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:15797965G>T	ENST00000300036.5	-	41	5911	c.5802C>A	c.(5800-5802)acC>acA	p.T1934T	MYH11_ENST00000452625.2_3'UTR|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_3'UTR|MYH11_ENST00000573908.1_5'UTR|MYH11_ENST00000396324.3_Silent_p.T1941T|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1934					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAACGAAAGAGGTCTCGTTTC	0.393			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5800-5802)ACC>ACA		smooth muscle myosin heavy chain 11 isoform							150.0	141.0	144.0					16																	15797965		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15797965G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5802C>A	16.37:g.15797965G>T						MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Silent_p.T1941T|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	p.T1934T	NM_002474	NP_002465	P35749	MYH11_HUMAN			41	5909	-			1934			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.5802C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913227	0.17907	.	.	ENSG00000133392	ENST00000396320	.	.	.	5.43	-0.74	0.11115	.	.	.	.	.	T	0.37237	0.0996	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22208	-1.0223	5	0.26408	T	0.33	.	0.4966	0.00573	0.3027:0.129:0.3309:0.2374	.	.	.	.	H	1954	.	ENSP00000379613:P1954H	P	-	2	0	MYH11	15705466	0.952000	0.32445	0.930000	0.37139	0.981000	0.71138	0.338000	0.19858	-0.003000	0.14444	0.561000	0.74099	CCT		0.393	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		32	61	1	0	7.11191e-15	0.002836	1.09216e-14	32	61				
ABCC6	368	broad.mit.edu	37	16	16297269	16297269	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:16297269G>A	ENST00000205557.7	-	8	1025	c.996C>T	c.(994-996)ctC>ctT	p.L332L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	332	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGACTCACCTGAGCAGCTTGG	0.577																																							uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(994-996)CTC>CTT		ATP-binding cassette, sub-family C, member 6							59.0	55.0	56.0					16																	16297269		2197	4299	6496	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16297269G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.996C>T	16.37:g.16297269G>A						ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.L344L	p.L332L	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	8	1033	-			332			Extracellular (By similarity).|ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.996C>T	CCDS10568.1																																																																																				0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			10	25	0	0	0	0.000978	0	10	25				
ACSM5	54988	broad.mit.edu	37	16	20435317	20435317	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:20435317T>A	ENST00000331849.4	+	6	994	c.847T>A	c.(847-849)Ttc>Atc	p.F283I		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	283					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGACTCTCTTCTCTGCCTG	0.498																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(847-849)TTC>ATC		acyl-CoA synthetase medium-chain family member 5							175.0	151.0	159.0					16																	20435317		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20435317T>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.847T>A	16.37:g.20435317T>A	ENSP00000327916:p.Phe283Ile						p.F283I	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			6	994	+			283					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.847T>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777404	0.90195	.	.	ENSG00000183549	ENST00000331849	T	0.43688	0.94	4.56	4.56	0.56223	AMP-dependent synthetase/ligase (1);	0.094996	0.46442	D	0.000290	T	0.59362	0.2188	M	0.63428	1.95	0.42499	D	0.992926	D	0.63046	0.992	D	0.67900	0.954	T	0.63395	-0.6647	10	0.59425	D	0.04	-19.2936	13.7392	0.62838	0.0:0.0:0.0:1.0	.	283	Q6NUN0	ACSM5_HUMAN	I	283	ENSP00000327916:F283I	ENSP00000327916:F283I	F	+	1	0	ACSM5	20342818	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.691000	0.47010	1.894000	0.54839	0.533000	0.62120	TTC		0.498	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		16	103	0	0	0	0.004007	0	16	103				
DNAH3	55567	broad.mit.edu	37	16	21033322	21033322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:21033322G>C	ENST00000261383.3	-	40	5746	c.5747C>G	c.(5746-5748)tCa>tGa	p.S1916*	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1916					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTCATCATTGAGAAGGCAAG	0.458																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5746-5748)TCA>TGA		dynein, axonemal, heavy chain 3							118.0	98.0	105.0					16																	21033322		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033322G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5747C>G	16.37:g.21033322G>C	ENSP00000261383:p.Ser1916*						p.S1916*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	40	5747	-			1916					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.5747C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	45	11.434621	0.99560	.	.	ENSG00000158486	ENST00000261383	.	.	.	4.92	3.97	0.46021	.	0.441952	0.19303	N	0.117599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.1665	0.37054	0.082:0.2612:0.6567:0.0	.	.	.	.	X	1916	.	ENSP00000261383:S1916X	S	-	2	0	DNAH3	20940823	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.319000	0.51983	1.063000	0.40649	0.462000	0.41574	TCA		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		12	44	0	0	0	0.001368	0	12	44				
DNAH3	55567	broad.mit.edu	37	16	21098179	21098179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:21098179G>T	ENST00000261383.3	-	19	2867	c.2868C>A	c.(2866-2868)caC>caA	p.H956Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.H956Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	956	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGCTGCCAGTGTCGGTCTT	0.527																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2866-2868)CAC>CAA		dynein, axonemal, heavy chain 3							171.0	162.0	165.0					16																	21098179		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21098179G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2868C>A	16.37:g.21098179G>T	ENSP00000261383:p.His956Gln						p.H956Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2868	-			956			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2868C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569193	0.65765	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.75589	-0.95;-0.95	5.58	3.63	0.41609	Dynein heavy chain, domain-2 (1);	0.130176	0.49916	D	0.000121	D	0.88194	0.6371	H	0.94734	3.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89276	0.3608	10	0.87932	D	0	.	9.1687	0.37067	0.279:0.0:0.721:0.0	.	956	Q8TD57	DYH3_HUMAN	Q	956	ENSP00000261383:H956Q;ENSP00000394245:H956Q	ENSP00000261383:H956Q	H	-	3	2	DNAH3	21005680	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.668000	0.25127	1.368000	0.46115	-0.137000	0.14449	CAC		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		63	71	1	0	9.21137e-24	0.00361	1.65415e-23	63	71				
EEF2K	29904	broad.mit.edu	37	16	22256000	22256000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:22256000G>T	ENST00000263026.5	+	3	770	c.296G>T	c.(295-297)tGg>tTg	p.W99L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	99					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCCGACCCCTGGGCTGAGTTC	0.587																																					NSCLC(195;1411 2157 20319 27471 51856)	NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	0				large_intestine(1)	1						c.(295-297)TGG>TTG		elongation factor-2 kinase							105.0	84.0	91.0					16																	22256000		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22256000G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.296G>T	16.37:g.22256000G>T	ENSP00000263026:p.Trp99Leu					EEF2K_uc002dkh.2_RNA	p.W99L	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	3	781	+			99					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.296G>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960641	0.92791	.	.	ENSG00000103319	ENST00000263026	T	0.05081	3.5	4.42	4.42	0.53409	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05954	-1.0854	10	0.87932	D	0	-19.2789	17.4012	0.87460	0.0:0.0:1.0:0.0	.	99	O00418	EF2K_HUMAN	L	99	ENSP00000263026:W99L	ENSP00000263026:W99L	W	+	2	0	EEF2K	22163501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.412000	0.97347	2.171000	0.68590	0.655000	0.94253	TGG		0.587	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		35	45	1	0	2.59497e-14	0.007835	3.9472e-14	35	45				
ERN2	10595	broad.mit.edu	37	16	23718359	23718359	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:23718359G>C	ENST00000457008.2	-	5	386	c.348C>G	c.(346-348)ccC>ccG	p.P116P	ERN2_ENST00000256797.4_Silent_p.P164P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCTGCGGCAGGGAGAGGCAT	0.547																																							uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(490-492)CCC>CCG		endoplasmic reticulum to nucleus signalling 2							83.0	76.0	78.0					16																	23718359		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718359G>C	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.348C>G	16.37:g.23718359G>C						ERN2_uc010bxp.2_Silent_p.P164P|ERN2_uc010bxq.1_5'UTR	p.P164P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	661	-			116			Lumenal (Potential).			Silent	SNP	ENST00000457008.2	37	c.492C>G																																																																																					0.547	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			10	46	0	0	0	0.008291	0	10	46				
IL21R	50615	broad.mit.edu	37	16	27455949	27455949	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:27455949G>A	ENST00000337929.3	+	6	1067	c.594G>A	c.(592-594)ctG>ctA	p.L198L	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Silent_p.L198L|IL21R_ENST00000395754.4_Silent_p.L198L|IL21R_ENST00000564089.1_Silent_p.L198L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTATGAGCTGCAGGTGCGGG	0.592			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(592-594)CTG>CTA		interleukin 21 receptor precursor							86.0	81.0	83.0					16																	27455949		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455949G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.594G>A	16.37:g.27455949G>A						IL21R_uc002dor.1_Silent_p.L198L|IL21R_uc002dos.1_Silent_p.L198L	p.L198L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			6	827	+			198			Extracellular (Potential).|Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.594G>A	CCDS10630.1																																																																																				0.592	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		51	35	0	0	0	0.00361	0	51	35				
KIAA0556	23247	broad.mit.edu	37	16	27751537	27751537	+	Missense_Mutation	SNP	G	G	T	rs547713946		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:27751537G>T	ENST00000261588.4	+	15	1938	c.1919G>T	c.(1918-1920)aGc>aTc	p.S640I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	640						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCGGAAGAAAGCAAAGGCACC	0.562																																							uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1918-1920)AGC>ATC		hypothetical protein LOC23247							72.0	68.0	69.0					16																	27751537		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751537G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1919G>T	16.37:g.27751537G>T	ENSP00000261588:p.Ser640Ile						p.S640I	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1943	+			640			Potential.		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1919G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149248	0.57151	.	.	ENSG00000047578	ENST00000261588	T	0.10573	2.86	5.27	5.27	0.74061	.	0.388362	0.31450	N	0.007624	T	0.22898	0.0553	M	0.62723	1.935	0.09310	N	1	D	0.53151	0.958	P	0.56700	0.804	T	0.05484	-1.0882	10	0.48119	T	0.1	-0.4887	11.2188	0.48842	0.0856:0.0:0.9144:0.0	.	640	O60303	K0556_HUMAN	I	640	ENSP00000261588:S640I	ENSP00000261588:S640I	S	+	2	0	KIAA0556	27659038	0.000000	0.05858	0.038000	0.18304	0.002000	0.02628	0.392000	0.20801	2.459000	0.83118	0.655000	0.94253	AGC		0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		34	35	1	0	1.56442e-22	0.002445	2.74774e-22	34	35				
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:28880417G>T	ENST00000322610.8	+	6	1571	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	SH2B1_ENST00000359285.5_Splice_Site_p.G378*|SH2B1_ENST00000337120.5_Splice_Site_p.G378*|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Splice_Site_p.G378*|SH2B1_ENST00000545570.1_Splice_Site_p.G68*|SH2B1_ENST00000538342.1_Splice_Site_p.G42*			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562																																							uc002dri.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1132-1134)GGA>TGA		SH2B adaptor protein 1 isoform 1							118.0	103.0	108.0					16																	28880417		2197	4300	6497	SO:0001630	splice_region_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28880417G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1133+1G>T	16.37:g.28880417G>T						uc010vct.1_Intron|SH2B1_uc010vdc.1_Nonsense_Mutation_p.G68*|SH2B1_uc002drj.2_Nonsense_Mutation_p.G378*|SH2B1_uc002drk.2_Nonsense_Mutation_p.G378*|SH2B1_uc002drl.2_Nonsense_Mutation_p.G378*|SH2B1_uc010vdd.1_Nonsense_Mutation_p.G42*|SH2B1_uc010vde.1_Nonsense_Mutation_p.G378*|SH2B1_uc002drm.2_Nonsense_Mutation_p.G378*	p.G378*	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			6	1571	+			378			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Nonsense_Mutation	SNP	ENST00000322610.8	37	c.1132G>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	41	8.824987	0.98968	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	.	.	.	4.83	4.83	0.62350	.	0.000000	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-25.0824	16.8433	0.85973	0.0:0.0:1.0:0.0	.	.	.	.	X	378;68;378;42;378;378	.	ENSP00000321221:G378X	G	+	1	0	SH2B1	28787918	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.630000	0.54273	2.504000	0.84457	0.467000	0.42956	GGA		0.562	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	Nonsense_Mutation	32	31	1	0	1.39806e-14	0.008361	2.13785e-14	32	31				
SPNS1	83985	broad.mit.edu	37	16	28993752	28993752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:28993752C>G	ENST00000311008.11	+	8	1418	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	SPNS1_ENST00000323081.8_Silent_p.L274L|SPNS1_ENST00000334536.8_Silent_p.L295L|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000352260.7_Silent_p.L273L|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000565975.1_Silent_p.L392L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	347					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCGCCGGCTCCGCCACTCCA	0.657																																							uc010vdi.1		NA																	0					0						c.(1039-1041)CTC>CTG		spinster homolog 1 isoform 1							63.0	65.0	65.0					16																	28993752		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28993752C>G	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1041C>G	16.37:g.28993752C>G						uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.L274L|SPNS1_uc002dsa.2_Silent_p.L347L|SPNS1_uc002drz.2_Silent_p.L295L|SPNS1_uc010byp.2_Silent_p.L273L|SPNS1_uc010byq.1_Silent_p.L279L|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	p.L347L	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			9	1181	+			347					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1041C>G	CCDS10646.1																																																																																				0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		25	65	0	0	0	0.007291	0	25	65				
TAOK2	9344	broad.mit.edu	37	16	29996620	29996620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:29996620G>T	ENST00000308893.4	+	14	2552	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q503H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q503H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q330H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	503					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACAGCACCAGAAGCAGCTGC	0.662																																							uc002dva.1		NA																	0				ovary(1)	1						c.(1507-1509)CAG>CAT		TAO kinase 2 isoform 2							39.0	41.0	40.0					16																	29996620		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996620G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1509G>T	16.37:g.29996620G>T	ENSP00000310094:p.Gln503His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Q503H|TAOK2_uc002dvc.1_Missense_Mutation_p.Q503H|TAOK2_uc010bzm.1_Missense_Mutation_p.Q510H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q330H	p.Q503H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			14	2292	+			503			Potential.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1509G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002498	0.74932	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.41758	0.99;0.99;0.99	5.62	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.86953	2.85	0.58432	D	0.999996	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.998;0.996	D;D;D;D;D	0.91635	0.986;0.997;0.999;0.997;0.995	T	0.72110	-0.4389	9	.	.	.	.	13.799	0.63188	0.0766:0.0:0.9234:0.0	.	694;330;503;503;503	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	H	503	ENSP00000310094:Q503H;ENSP00000440336:Q503H;ENSP00000279394:Q503H	.	Q	+	3	2	TAOK2	29904121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.481000	0.53179	2.651000	0.90000	0.563000	0.77884	CAG		0.662	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		17	44	1	0	3.45872e-05	0.004007	3.95204e-05	17	44				
TAOK2	9344	broad.mit.edu	37	16	29997038	29997038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:29997038G>T	ENST00000308893.4	+	15	2891	c.1848G>T	c.(1846-1848)caG>caT	p.Q616H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q616H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q616H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q443H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	616					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCTGCGGCAGAAGGAGCAGC	0.662																																							uc002dva.1		NA																	0				ovary(1)	1						c.(1846-1848)CAG>CAT		TAO kinase 2 isoform 2							13.0	15.0	14.0					16																	29997038		2191	4293	6484	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997038G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1848G>T	16.37:g.29997038G>T	ENSP00000310094:p.Gln616His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Q616H|TAOK2_uc002dvc.1_Missense_Mutation_p.Q616H|TAOK2_uc010bzm.1_Missense_Mutation_p.Q623H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q443H	p.Q616H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			15	2631	+			616					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1848G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004155	0.74932	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.37915	1.17;1.55;1.17	4.93	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.987;0.978;0.995	D;D;D;P;D	0.85130	0.986;0.997;0.917;0.828;0.931	T	0.46414	-0.9193	9	.	.	.	.	12.6129	0.56560	0.0834:0.0:0.9166:0.0	.	807;443;616;616;616	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	H	616	ENSP00000310094:Q616H;ENSP00000440336:Q616H;ENSP00000279394:Q616H	.	Q	+	3	2	TAOK2	29904539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.786000	0.75094	1.053000	0.40415	0.467000	0.42956	CAG		0.662	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		3	9	1	0	0.00909568	0.009096	0.00949057	3	9				
SRCAP	10847	broad.mit.edu	37	16	30735460	30735460	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30735460T>C	ENST00000262518.4	+	25	5100	c.4715T>C	c.(4714-4716)cTt>cCt	p.L1572P	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1414P|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1510P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1572	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCTTCCCTTCTGGCTCCA	0.602																																							uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(4714-4716)CTT>CCT		Snf2-related CBP activator protein							89.0	80.0	83.0					16																	30735460		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735460T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4715T>C	16.37:g.30735460T>C	ENSP00000262518:p.Leu1572Pro					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L1367P|SRCAP_uc010bzz.1_Missense_Mutation_p.L1142P	p.L1572P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5100	+			1572			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4715T>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	8.734	0.917248	0.17982	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92199	-2.99;-2.9;-2.82	5.65	5.65	0.86999	.	0.139126	0.33496	N	0.004855	D	0.88377	0.6420	N	0.19112	0.55	0.48975	D	0.999739	P;P;P	0.52692	0.892;0.955;0.828	P;P;B	0.47251	0.542;0.542;0.34	D	0.90160	0.4227	10	0.87932	D	0	-10.7553	13.8378	0.63419	0.0:0.0:0.0:1.0	.	1414;1510;1572	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	P	1572;1510;1414	ENSP00000262518:L1572P;ENSP00000378499:L1510P;ENSP00000343042:L1414P	ENSP00000262518:L1572P	L	+	2	0	SRCAP	30642961	0.002000	0.14202	1.000000	0.80357	0.976000	0.68499	1.028000	0.30128	2.154000	0.67381	0.377000	0.23210	CTT		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		46	42	0	0	0	0.00361	0	46	42				
SETD1A	9739	broad.mit.edu	37	16	30975431	30975431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30975431G>T	ENST00000262519.8	+	6	1342	c.656G>T	c.(655-657)cGc>cTc	p.R219L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	219					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGCCGCCGCTCTTCCTCT	0.622																																							uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(655-657)CGC>CTC		SET domain containing 1A							66.0	68.0	67.0					16																	30975431		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975431G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.656G>T	16.37:g.30975431G>T	ENSP00000262519:p.Arg219Leu					SETD1A_uc002eae.1_Missense_Mutation_p.R219L	p.R219L	NM_014712	NP_055527	O15047	SET1A_HUMAN			6	1342	+			219					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.656G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562713	0.65538	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	D	0.96104	-3.91	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	L	0.46157	1.445	0.53688	D	0.999974	D	0.69078	0.997	P	0.57101	0.813	D	0.95208	0.8323	10	0.40728	T	0.16	.	18.561	0.91100	0.0:0.0:1.0:0.0	.	219	O15047	SET1A_HUMAN	L	219	ENSP00000262519:R219L	ENSP00000262519:R219L	R	+	2	0	SETD1A	30882932	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.202000	0.65169	2.675000	0.91044	0.561000	0.74099	CGC		0.622	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		26	47	1	0	1.5548e-18	0.005443	2.57113e-18	26	47				
SETD1A	9739	broad.mit.edu	37	16	30975533	30975533	+	Missense_Mutation	SNP	G	G	T	rs148087764		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30975533G>T	ENST00000262519.8	+	6	1444	c.758G>T	c.(757-759)cGa>cTa	p.R253L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	253	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAGCAGCCGACAAGATACC	0.622																																							uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(757-759)CGA>CTA		SET domain containing 1A							109.0	90.0	96.0					16																	30975533		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975533G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.758G>T	16.37:g.30975533G>T	ENSP00000262519:p.Arg253Leu					SETD1A_uc002eae.1_Missense_Mutation_p.R253L	p.R253L	NM_014712	NP_055527	O15047	SET1A_HUMAN			6	1444	+			253			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.758G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453153	0.84209	.	.	ENSG00000099381	ENST00000262519	D	0.96011	-3.88	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000002	D	0.96128	0.8738	L	0.57536	1.79	0.43994	D	0.996696	D	0.63046	0.992	P	0.54759	0.76	D	0.96155	0.9111	10	0.62326	D	0.03	.	16.7063	0.85373	0.0:0.0:1.0:0.0	.	253	O15047	SET1A_HUMAN	L	253	ENSP00000262519:R253L	ENSP00000262519:R253L	R	+	2	0	SETD1A	30883034	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.533000	0.81994	2.675000	0.91044	0.561000	0.74099	CGA		0.622	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		43	46	1	0	3.54561e-26	0.009718	6.49652e-26	43	46				
ITGAX	3687	broad.mit.edu	37	16	31374645	31374645	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:31374645T>A	ENST00000268296.4	+	14	1781	c.1660T>A	c.(1660-1662)Tac>Aac	p.Y554N	ITGAX_ENST00000562522.1_Missense_Mutation_p.Y554N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	554					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGTGCTGTCTACCTGTTTCA	0.612																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1660-1662)TAC>AAC		integrin alpha X precursor							111.0	114.0	113.0					16																	31374645		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374645T>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1660T>A	16.37:g.31374645T>A	ENSP00000268296:p.Tyr554Asn					ITGAX_uc002ebt.2_Missense_Mutation_p.Y554N|ITGAX_uc010vfk.1_Missense_Mutation_p.Y204N	p.Y554N	NM_000887	NP_000878	P20702	ITAX_HUMAN			14	1727	+			554			Extracellular (Potential).|FG-GAP 6.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1660T>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914782	0.52546	.	.	ENSG00000140678	ENST00000268296	T	0.74002	-0.8	4.14	4.14	0.48551	.	.	.	.	.	D	0.89375	0.6697	H	0.96015	3.755	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.91468	0.5194	9	0.87932	D	0	.	10.9761	0.47467	0.0:0.0:0.0:1.0	.	554	P20702	ITAX_HUMAN	N	554	ENSP00000268296:Y554N	ENSP00000268296:Y554N	Y	+	1	0	ITGAX	31282146	1.000000	0.71417	0.997000	0.53966	0.228000	0.25075	4.796000	0.62496	1.637000	0.50538	0.377000	0.23210	TAC		0.612	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		31	108	0	0	0	0.002096	0	31	108				
SLC5A2	6524	broad.mit.edu	37	16	31499727	31499727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:31499727G>C	ENST00000330498.3	+	9	1064	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	349					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CGTGGTGCCTGAGGTGTGCAG	0.682																																							uc002ecf.3		NA																	0				ovary(1)	1						c.(1045-1047)GAG>CAG		solute carrier family 5 (sodium/glucose							36.0	36.0	36.0					16																	31499727		2196	4299	6495	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499727G>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1045G>C	16.37:g.31499727G>C	ENSP00000327943:p.Glu349Gln					SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.E349Q	NM_003041	NP_003032	P31639	SC5A2_HUMAN			9	1064	+			349			Extracellular (Potential).		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1045G>C	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761512	0.49468	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.87491	-2.26;-2.08	4.7	4.7	0.59300	.	0.303220	0.34314	N	0.004076	D	0.90239	0.6948	M	0.68593	2.085	0.37752	D	0.926025	D	0.62365	0.991	P	0.62089	0.898	D	0.90971	0.4820	10	0.54805	T	0.06	.	8.7152	0.34408	0.1002:0.0:0.8998:0.0	.	349	P31639	SC5A2_HUMAN	Q	349	ENSP00000327943:E349Q;ENSP00000410601:E349Q	ENSP00000327943:E349Q	E	+	1	0	SLC5A2	31407228	1.000000	0.71417	0.945000	0.38365	0.029000	0.11900	5.358000	0.66064	2.453000	0.82957	0.561000	0.74099	GAG		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			7	12	0	0	0	0.000978	0	7	12				
SLC6A10P	386757	broad.mit.edu	37	16	32890601	32890601	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:32890601C>A	ENST00000330048.5	-	0	3197					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CCTCACCCCACCACGGGTACA	0.592																																							uc002edh.1		NA																	0					0						c.(283-285)TGG>TGT		RecName: Full=Transporter;																																						386757							g.chr16:32890601C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890601C>A						SLC6A10P_uc002edi.1_RNA	p.W95C							5	461	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.285G>T																																																																																					0.592	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	15	1	0	0.00909568	0.009096	0.00949057	3	15				
SLC6A10P	386757	broad.mit.edu	37	16	32890630	32890630	+	RNA	SNP	C	C	A	rs561652306		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:32890630C>A	ENST00000330048.5	-	0	3168					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		TTTTTGTAGACCAGCGGCTTG	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		12511	0.0		0.0	False		,,,				2504	0.001						uc002edh.1		NA																	0					0						c.(256-258)GTC>TTC		RecName: Full=Transporter;																																						386757							g.chr16:32890630C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890630C>A						SLC6A10P_uc002edi.1_RNA	p.V86F							5	432	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.256G>T																																																																																					0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			12	13	1	0	4.3838e-07	0.001855	5.33905e-07	12	13				
Unknown	0	broad.mit.edu	37	16	33784722	33784722	+	IGR	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:33784722G>T								RP11-812E19.3 (6978 upstream) : AC136932.2 (161226 downstream)																							TGTACCCGTGGTGGGGTGAGG	0.602																																							uc010vgb.1		NA																	0					NA						c.(109-111)TGG>TGT		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784722G>T																													16.37:g.33784722G>T							p.W37C							2	131	+									Missense_Mutation	SNP		37	c.111G>T		.	.	.	.	.	.	.	.	.	.	.	2.609	-0.291252	0.05568	.	.	ENSG00000198555	ENST00000359871	.	.	.	2.12	1.04	0.20106	.	0.000000	0.64402	U	0.000003	T	0.63686	0.2532	.	.	.	.	.	.	D	0.71674	0.998	D	0.65573	0.936	T	0.69866	-0.5029	6	.	.	.	.	8.2161	0.31511	0.0:0.251:0.749:0.0	.	89	F8WED4	.	C	89	.	.	W	+	3	0	AC133561.1	33692223	0.997000	0.39634	0.998000	0.56505	0.183000	0.23260	1.168000	0.31859	0.388000	0.25054	0.194000	0.17425	TGG	0	0.602									12	14	1	0	1.3612e-06	0.003163	1.62893e-06	12	14				
ABCC12	94160	broad.mit.edu	37	16	48167679	48167679	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:48167679C>T	ENST00000311303.3	-	7	1392	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	ABCC12_ENST00000416054.1_Silent_p.L349L|ABCC12_ENST00000448542.1_Silent_p.L349L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	349	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGATGGGGGCCAGGGCAGAGT	0.498																																							uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(1045-1047)CTG>CTA		ATP-binding cassette protein C12							122.0	119.0	120.0					16																	48167679		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48167679C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1047G>A	16.37:g.48167679C>T						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.L349L|ABCC12_uc010vgj.1_RNA	p.L349L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			7	1393	-		all_cancers(37;0.0474)|all_lung(18;0.047)	349			ABC transmembrane type-1 1.|Helical; (Potential).		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.1047G>A	CCDS10730.1																																																																																				0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		13	24	0	0	0	0.003163	0	13	24				
CES5A	221223	broad.mit.edu	37	16	55886934	55886934	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:55886934G>C	ENST00000290567.9	-	10	1253	c.1132C>G	c.(1132-1134)Ccg>Gcg	p.P378A	CES5A_ENST00000518005.1_Missense_Mutation_p.P272A|CES5A_ENST00000319165.9_Missense_Mutation_p.P378A|CES5A_ENST00000521992.1_Missense_Mutation_p.P407A|CES5A_ENST00000520435.1_Missense_Mutation_p.P348A|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	378						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TACTGAGGCGGGATGTGCTGT	0.453																																							uc002eip.2		NA																	0					0						c.(1132-1134)CCG>GCG		carboxylesterase 7 isoform 1							101.0	94.0	97.0					16																	55886934		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886934G>C	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1132C>G	16.37:g.55886934G>C	ENSP00000290567:p.Pro378Ala					CES7_uc002eio.2_Missense_Mutation_p.P378A|CES7_uc002eiq.2_Missense_Mutation_p.P139A|CES7_uc002eir.2_Missense_Mutation_p.P272A	p.P378A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	10	1281	-			378					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.1132C>G	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234080	0.39498	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.41	2.42	0.29668	Carboxylesterase, type B (1);	.	.	.	.	T	0.17916	0.0430	L	0.54863	1.705	0.09310	N	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.832	T	0.13124	-1.0521	9	0.34782	T	0.22	.	3.6356	0.08147	0.2693:0.0:0.5563:0.1744	.	378;378	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	A	407;378;272;378;348;158	ENSP00000428864:P407A;ENSP00000324271:P378A;ENSP00000428571:P272A;ENSP00000290567:P378A;ENSP00000428887:P348A	ENSP00000290567:P378A	P	-	1	0	CES5A	54444435	0.835000	0.29415	0.010000	0.14722	0.007000	0.05969	1.630000	0.37081	0.680000	0.31366	0.449000	0.29647	CCG		0.453	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		14	34	0	0	0	0.001855	0	14	34				
BBS2	583	broad.mit.edu	37	16	56536584	56536584	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:56536584C>A	ENST00000245157.5	-	8	1361		c.e8+1		BBS2_ENST00000561951.1_Splice_Site|BBS2_ENST00000568104.1_Splice_Site	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2						adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCCCAATTTACTTTCCCCATC	0.403									Bardet-Biedl syndrome																														uc002ejd.2		NA																	0				ovary(1)	1						c.e8+1		Bardet-Biedl syndrome 2 protein							128.0	123.0	124.0					16																	56536584		2198	4300	6498	SO:0001630	splice_region_variant	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536584C>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.940+1G>T	16.37:g.56536584C>A						BBS2_uc010ccg.2_Missense_Mutation_p.S314I	p.I314_splice	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			8	1174	-								Q96CM0|Q96SN9	Splice_Site	SNP	ENST00000245157.5	37	c.940_splice	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996009	0.74703	.	.	ENSG00000125124	ENST00000245157	.	.	.	5.92	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0846	0.72142	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	BBS2	55094085	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.768000	0.85345	1.522000	0.49001	0.561000	0.74099	.		0.403	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	Intron	33	85	1	0	1.60099e-16	0.004878	2.54253e-16	33	85				
NLRC5	84166	broad.mit.edu	37	16	57104528	57104528	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:57104528G>C	ENST00000262510.6	+	38	4890	c.4665G>C	c.(4663-4665)ctG>ctC	p.L1555L	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.L1526L|NLRC5_ENST00000539144.1_Silent_p.L1526L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1555					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TAAAGAGGCTGGAGTAAGTAG	0.527																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(4663-4665)CTG>CTC		nucleotide-binding oligomerization domains 27							145.0	108.0	120.0					16																	57104528		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57104528G>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4665G>C	16.37:g.57104528G>C						NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.L97L|NLRC5_uc002ekr.1_Silent_p.L442L	p.L1555L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			38	4890	+		all_neural(199;0.225)	1555			LRR 18.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.4665G>C	CCDS10773.1																																																																																				0.527	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		27	49	0	0	0	0.007291	0	27	49				
DRC7	84229	broad.mit.edu	37	16	57765153	57765153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:57765153C>T	ENST00000360716.3	+	19	2829	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	CCDC135_ENST00000336825.8_Nonsense_Mutation_p.Q805*|CCDC135_ENST00000394337.4_Nonsense_Mutation_p.Q870*			Q8IY82	CC135_HUMAN		870					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGGAGCTCCAGAAAATATT	0.567																																							uc002emi.2		NA																	0				central_nervous_system(1)	1						c.(2608-2610)CAG>TAG		coiled-coil domain containing 135							52.0	63.0	59.0					16																	57765153		2197	4300	6497	SO:0001587	stop_gained	84229					cytoplasm		g.chr16:57765153C>T																												ENST00000360716.3:c.2608C>T	16.37:g.57765153C>T	ENSP00000353942:p.Gln870*					CCDC135_uc002emj.2_Nonsense_Mutation_p.Q870*|CCDC135_uc002emk.2_Nonsense_Mutation_p.Q805*	p.Q870*	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			18	2697	+			870					A8K943|Q8NAA0|Q9H080	Nonsense_Mutation	SNP	ENST00000360716.3	37	c.2608C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.62	1.992854	0.35131	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	.	.	.	5.28	1.87	0.25490	.	0.667575	0.13851	N	0.358375	.	.	.	.	.	.	0.27523	N	0.951343	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.4783	8.2368	0.31631	0.281:0.5138:0.2051:0.0	.	.	.	.	X	870;805;870	.	ENSP00000338938:Q805X	Q	+	1	0	CCDC135	56322654	0.002000	0.14202	0.002000	0.10522	0.096000	0.18686	0.273000	0.18662	0.108000	0.17862	0.592000	0.82586	CAG		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			14	26	0	0	0	0.00499	0	14	26				
CDH8	1006	broad.mit.edu	37	16	61687943	61687943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:61687943C>A	ENST00000577390.1	-	12	2923	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	CDH8_ENST00000299345.6_Missense_Mutation_p.D657Y|CDH8_ENST00000577730.1_Missense_Mutation_p.D657Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	657					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACGTCTTCATCATCTTTGATA	0.403																																							uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(1969-1971)GAT>TAT		cadherin 8, type 2 preproprotein							93.0	89.0	90.0					16																	61687943		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687943C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1969G>T	16.37:g.61687943C>A	ENSP00000462701:p.Asp657Tyr						p.D657Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2221	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	657			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1969G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208911	0.95069	.	.	ENSG00000150394	ENST00000299345	T	0.78003	-1.14	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	M	0.64170	1.965	0.80722	D	1	D	0.60575	0.988	P	0.60236	0.871	D	0.86558	0.1839	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	657	P55286	CADH8_HUMAN	Y	657	ENSP00000299345:D657Y	ENSP00000299345:D657Y	D	-	1	0	CDH8	60245444	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	GAT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		25	60	1	0	1.96895e-08	0.00278	2.51481e-08	25	60				
DDX28	55794	broad.mit.edu	37	16	68055793	68055794	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:68055793_68055794CC>AA	ENST00000332395.5	-	1	1976_1977	c.1312_1313GG>TT	c.(1312-1314)GGa>TTa	p.G438L	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	438	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTGGAAGATTCCTACCCTCATC	0.515																																							uc002evh.1		NA																	0				skin(1)	1						c.(1312-1314)GGA>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28																																				SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055793_68055794CC>AA	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1312_1313delinsAA	16.37:g.68055793_68055794delinsAA	ENSP00000332340:p.Gly438Leu					DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	p.G438L	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	2166_2167	-		Ovarian(137;0.0563)	438			Helicase C-terminal.			Missense_Mutation	DNP	ENST00000332395.5	37	c.1312_1313GG>TT	CCDS10858.1																																																																																				0.515	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		15	30	0	0	0	0.004672	0	15	30				
ZFP90	146198	broad.mit.edu	37	16	68598371	68598371	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:68598371G>A	ENST00000570495.1	+	5	1973	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ZFP90_ENST00000563169.2_Missense_Mutation_p.A561T|ZFP90_ENST00000398253.2_Missense_Mutation_p.A561T			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	561					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTGTGGGAAAGCCTTTAGTCA	0.433																																							uc010cff.2		NA																	0				ovary(1)	1						c.(1681-1683)GCC>ACC		zinc finger protein 90							82.0	94.0	90.0					16																	68598371		2193	4299	6492	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598371G>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1681G>A	16.37:g.68598371G>A	ENSP00000460547:p.Ala561Thr					ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.A561T|ZFP90_uc002ewe.2_Missense_Mutation_p.A561T	p.A561T	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1973	+		Ovarian(137;0.192)	561			C2H2-type 11.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1681G>A	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797171	0.31777	.	.	ENSG00000184939	ENST00000398253	T	0.13778	2.56	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11965	0.0291	N	0.01464	-0.85	0.26892	N	0.967295	D	0.69078	0.997	D	0.64595	0.927	T	0.35895	-0.9770	9	0.33141	T	0.24	-6.076	10.5678	0.45184	0.0875:0.0:0.9125:0.0	.	561	Q8TF47	ZFP90_HUMAN	T	561	ENSP00000381304:A561T	ENSP00000381304:A561T	A	+	1	0	ZFP90	67155872	0.004000	0.15560	1.000000	0.80357	0.982000	0.71751	0.450000	0.21762	2.639000	0.89480	0.561000	0.74099	GCC		0.433	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		25	61	0	0	0	0.005443	0	25	61				
HYDIN	54768	broad.mit.edu	37	16	70871670	70871670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:70871670G>C	ENST00000393567.2	-	77	13315	c.13165C>G	c.(13165-13167)Caa>Gaa	p.Q4389E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4389					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGTTCTTGATAGTTGATA	0.438																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(13162-13164)CAA>GAA		hydrocephalus inducing isoform a							27.0	29.0	28.0					16																	70871670		1793	4053	5846	SO:0001583	missense	54768							g.chr16:70871670G>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13165C>G	16.37:g.70871670G>C	ENSP00000377197:p.Gln4389Glu					HYDIN_uc010cfy.2_RNA	p.Q4388E	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			77	13290	-		Ovarian(137;0.0654)	4389					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13162C>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019610	0.19355	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00753	5.74	5.04	1.73	0.24493	.	0.828605	0.09507	U	0.792900	T	0.00724	0.0024	N	0.22421	0.69	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.45527	-0.9255	10	0.02654	T	1	.	14.144	0.65339	0.0:0.0:0.614:0.386	.	4388	F8WD23	.	E	4389;4388	ENSP00000377197:Q4389E	ENSP00000313052:Q4388E	Q	-	1	0	HYDIN	69429171	1.000000	0.71417	0.474000	0.27266	0.391000	0.30476	2.995000	0.49441	0.623000	0.30267	-0.285000	0.09966	CAA		0.438	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			11	22	0	0	0	0.001855	0	11	22				
HYDIN	54768	broad.mit.edu	37	16	71025201	71025201	+	Intron	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:71025201C>A	ENST00000393567.2	-	25	4015					NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTACCCTCCCCATGGAAAGG	0.483																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(3883-3885)GGG>GTG		hydrocephalus inducing isoform a							68.0	65.0	66.0					16																	71025201		1861	4098	5959	SO:0001627	intron_variant	54768							g.chr16:71025201C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3864+19G>T	16.37:g.71025201C>A							p.G1295V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			25	4012	-		Ovarian(137;0.0654)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3884G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	6.016	0.371304	0.11409	.	.	ENSG00000157423	ENST00000316490	.	.	.	3.11	-0.0893	0.13669	.	1.089610	0.07445	U	0.898013	T	0.21145	0.0509	N	0.22421	0.69	0.09310	N	1	P	0.36183	0.542	B	0.34452	0.183	T	0.20009	-1.0288	9	0.28530	T	0.3	.	5.1885	0.15197	0.0:0.4605:0.4156:0.1238	.	1295	F8WD23	.	V	1295	.	ENSP00000313052:G1295V	G	-	2	0	HYDIN	69582702	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.214000	0.09292	0.023000	0.15187	-0.662000	0.03851	GGG		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			20	43	1	0	8.10497e-08	0.010504	1.01718e-07	20	43				
HYDIN	54768	broad.mit.edu	37	16	71212912	71212912	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:71212912G>A	ENST00000393567.2	-	4	450	c.300C>T	c.(298-300)ccC>ccT	p.P100P	HYDIN_ENST00000448691.1_Silent_p.P100P|HYDIN_ENST00000448089.2_Silent_p.P100P|HYDIN_ENST00000393550.2_Silent_p.P100P|HYDIN_ENST00000541601.1_Silent_p.P117P|HYDIN_ENST00000538248.1_Silent_p.P127P|HYDIN_ENST00000288168.10_Silent_p.P117P|HYDIN_ENST00000321489.5_Silent_p.P100P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	100					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGATGGAAAGGGCTGGAATA	0.378																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(298-300)CCC>CCT		hydrocephalus inducing isoform a							94.0	94.0	94.0					16																	71212912		2198	4300	6498	SO:0001819	synonymous_variant	54768							g.chr16:71212912G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.300C>T	16.37:g.71212912G>A						HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.P100P|HYDIN_uc010vmc.1_Silent_p.P117P|HYDIN_uc010vmd.1_Silent_p.P127P|HYDIN_uc002ezw.3_Silent_p.P117P	p.P100P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			4	428	-		Ovarian(137;0.0654)	100					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.300C>T	CCDS59269.1																																																																																				0.378	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			13	42	0	0	0	0.001855	0	13	42				
NPIPB15	440348	broad.mit.edu	37	16	74425527	74425527	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:74425527T>G	ENST00000429990.1	+	7	977	c.881T>G	c.(880-882)gTg>gGg	p.V294G				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	294	Pro-rich.					extracellular region (GO:0005576)											CCACCCTCAGTGGATGATAAT	0.507																																							uc010vmt.1		NA																	0					NA						c.(697-699)GTG>GGG		RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;							191.0	185.0	187.0					16																	74425527		2181	4287	6468	SO:0001583	missense	0							g.chr16:74425527T>G	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.881T>G	16.37:g.74425527T>G	ENSP00000411140:p.Val294Gly						p.V233G							6	699	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.698T>G		.	.	.	.	.	.	.	.	.	.	-	10.04	1.242591	0.22796	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.46819	0.86	.	.	.	.	.	.	.	.	T	0.25494	0.0620	N	0.14661	0.345	0.09310	N	1	P	0.52061	0.95	B	0.39119	0.291	T	0.07654	-1.0761	6	0.39692	T	0.17	.	.	.	.	.	233	A6NHN6	NPPL2_HUMAN	G	172;294	ENSP00000411140:V294G	ENSP00000411140:V294G	V	+	2	0	NPIPL2	72983028	0.014000	0.17966	.	.	.	.	-2.049000	0.01405	.	.	.	.	GTG		0.507	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		11	129	0	0	0	0.00333	0	11	129				
CLEC18B	497190	broad.mit.edu	37	16	74455116	74455116	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:74455116A>C	ENST00000339953.5	-	1	174	c.53T>G	c.(52-54)cTg>cGg	p.L18R	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	18						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGAGGGCCAGGAGCACAGC	0.682																																							uc002fct.2		NA																	0					0						c.(52-54)CTG>CGG		C-type lectin domain family 18, member B							68.0	81.0	77.0					16																	74455116		2196	4300	6496	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74455116A>C	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.53T>G	16.37:g.74455116A>C	ENSP00000341051:p.Leu18Arg					CLEC18B_uc002fcu.2_Missense_Mutation_p.L18R|CLEC18B_uc010vmu.1_Missense_Mutation_p.L18R|CLEC18B_uc010vmw.1_Missense_Mutation_p.L18R	p.L18R	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			1	253	-			18					B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.53T>G	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	15.59	2.878560	0.51801	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.12147	2.71	2.68	1.55	0.23275	.	0.703358	0.12278	N	0.483163	T	0.20536	0.0494	L	0.32530	0.975	0.23798	N	0.996817	D;D;D	0.71674	0.998;0.998;0.998	P;D;D	0.77557	0.887;0.99;0.99	T	0.12218	-1.0556	10	0.42905	T	0.14	.	4.5097	0.11905	0.8331:0.0:0.1669:0.0	.	18;18;18	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	R	18	ENSP00000341051:L18R	ENSP00000268492:L18R	L	-	2	0	CLEC18B	73012617	0.998000	0.40836	0.943000	0.38184	0.215000	0.24574	1.705000	0.37867	0.263000	0.21812	0.347000	0.21830	CTG		0.682	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		20	18	0	0	0	0.001882	0	20	18				
CHST6	4166	broad.mit.edu	37	16	75513075	75513075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75513075G>T	ENST00000332272.4	-	3	831	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	CHST6_ENST00000390664.2_Missense_Mutation_p.L218M|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	218					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCACGCGCCAGAGCCTTGGCT	0.721																																							uc002fef.2		NA																	0					0						c.(652-654)CTG>ATG		carbohydrate (N-acetylglucosamine 6-O)							21.0	23.0	22.0					16																	75513075		2196	4287	6483	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513075G>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.652C>A	16.37:g.75513075G>T	ENSP00000328983:p.Leu218Met					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.L218M	p.L218M	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	832	-			218			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.652C>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951254	0.53186	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.82344	-1.6;-1.6	4.68	2.67	0.31697	Sulfotransferase domain (1);	0.158747	0.44285	D	0.000468	D	0.88976	0.6584	M	0.81239	2.535	0.45452	D	0.998423	D	0.89917	1.0	D	0.91635	0.999	D	0.87364	0.2346	10	0.54805	T	0.06	.	7.1979	0.25864	0.2902:0.0:0.7098:0.0	.	218	Q9GZX3	CHST6_HUMAN	M	218	ENSP00000328983:L218M;ENSP00000375079:L218M	ENSP00000328983:L218M	L	-	1	2	CHST6	74070576	0.961000	0.32948	0.991000	0.47740	0.776000	0.43924	1.701000	0.37825	0.954000	0.37851	0.591000	0.81541	CTG		0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		12	19	1	0	7.03913e-09	0.001368	9.16103e-09	12	19				
KARS	3735	broad.mit.edu	37	16	75668121	75668121	+	Nonsense_Mutation	SNP	C	C	A	rs368330279		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75668121C>A	ENST00000302445.3	-	7	904	c.865G>T	c.(865-867)Gag>Tag	p.E289*	KARS_ENST00000319410.5_Nonsense_Mutation_p.E317*|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	289					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTCCAGCTCGTTGTGATAA	0.428																																							uc002feq.2		NA																	0				ovary(2)	2						c.(865-867)GAG>TAG		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						132.0	129.0	130.0					16																	75668121		2198	4300	6498	SO:0001587	stop_gained	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75668121C>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.865G>T	16.37:g.75668121C>A	ENSP00000303043:p.Glu289*					KARS_uc002fer.2_Nonsense_Mutation_p.E317*|KARS_uc002fes.2_Nonsense_Mutation_p.E133*|KARS_uc010cgz.2_Nonsense_Mutation_p.E133*	p.E289*	NM_005548	NP_005539	Q15046	SYK_HUMAN			7	913	-			289					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Nonsense_Mutation	SNP	ENST00000302445.3	37	c.865G>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835241	0.97003	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	.	.	.	5.7	5.7	0.88788	.	0.089402	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.1446	18.4169	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	X	317;289	.	ENSP00000303043:E289X	E	-	1	0	KARS	74225622	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GAG		0.428	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		41	71	1	0	2.59497e-14	0.007835	3.9472e-14	41	71				
KARS	3735	broad.mit.edu	37	16	75668151	75668151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75668151C>T	ENST00000302445.3	-	7	874	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	KARS_ENST00000319410.5_Missense_Mutation_p.V307M|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	279					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCTTGGCCACGGCTCCCCCT	0.448																																							uc002feq.2		NA																	0				ovary(2)	2						c.(835-837)GTG>ATG		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						95.0	92.0	93.0					16																	75668151		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75668151C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.835G>A	16.37:g.75668151C>T	ENSP00000303043:p.Val279Met					KARS_uc002fer.2_Missense_Mutation_p.V307M|KARS_uc002fes.2_Missense_Mutation_p.V123M|KARS_uc010cgz.2_Missense_Mutation_p.V123M	p.V279M	NM_005548	NP_005539	Q15046	SYK_HUMAN			7	883	-			279					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.835G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123688	0.77436	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84589	-1.87;-1.87	5.7	5.7	0.88788	Lysyl-tRNA synthetase, class II, C-terminal (1);Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.051892	0.85682	D	0.000000	T	0.80171	0.4574	L	0.37697	1.125	0.80722	D	1	B;B;B	0.30870	0.265;0.037;0.298	B;B;B	0.22753	0.041;0.009;0.035	T	0.79300	-0.1860	10	0.72032	D	0.01	-13.7457	18.4169	0.90574	0.0:1.0:0.0:0.0	.	149;307;279	E9PDU1;Q15046-2;Q15046	.;.;SYK_HUMAN	M	307;279	ENSP00000325448:V307M;ENSP00000303043:V279M	ENSP00000303043:V279M	V	-	1	0	KARS	74225652	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.010000	0.70753	2.695000	0.91970	0.561000	0.74099	GTG		0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		32	55	0	0	0	0.008361	0	32	55				
CDH13	1012	broad.mit.edu	37	16	83065760	83065760	+	Silent	SNP	C	C	A	rs571729482		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:83065760C>A	ENST00000566620.1	+	3	593	c.303C>A	c.(301-303)ccC>ccA	p.P101P	CDH13_ENST00000431540.3_Silent_p.P101P|CDH13_ENST00000565636.1_Silent_p.P101P|CDH13_ENST00000268613.10_Silent_p.P148P|CDH13_ENST00000428848.3_Silent_p.P101P|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Silent_p.P101P	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	101					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACGGACCCCCCATGCGGAAG	0.517																																							uc002fgx.2		NA																	0				large_intestine(1)	1						c.(301-303)CCC>CCA		cadherin 13 preproprotein							63.0	63.0	63.0					16																	83065760		1940	4131	6071	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83065760C>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.303C>A	16.37:g.83065760C>A						CDH13_uc010chh.2_Silent_p.P101P|CDH13_uc010vns.1_Silent_p.P148P|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Silent_p.P101P	p.P101P	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	3	423	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	101					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.303C>A	CCDS58486.1																																																																																				0.517	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	17	1	0	0.000442599	0.006214	0.000483873	10	17				
SLC38A8	146167	broad.mit.edu	37	16	84050766	84050766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:84050766G>A	ENST00000299709.3	-	7	931	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	311					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.P311R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCACGATGGGGTAGACAGT	0.547																																							uc002fhg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CCC>CTC		solute carrier family 38, member 8							103.0	81.0	88.0					16																	84050766		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050766G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.932C>T	16.37:g.84050766G>A	ENSP00000299709:p.Pro311Leu						p.P311L	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			7	932	-			311			Helical; (Potential).			Missense_Mutation	SNP	ENST00000299709.3	37	c.932C>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607479	0.87157	.	.	ENSG00000166558	ENST00000299709	T	0.03242	4.0	4.75	4.75	0.60458	.	0.057587	0.64402	D	0.000001	T	0.21590	0.0520	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01966	-1.1238	10	0.87932	D	0	-23.3369	16.5211	0.84317	0.0:0.0:1.0:0.0	.	311	A6NNN8	S38A8_HUMAN	L	311	ENSP00000299709:P311L	ENSP00000299709:P311L	P	-	2	0	SLC38A8	82608267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.875000	0.92372	2.184000	0.69523	0.478000	0.44815	CCC		0.547	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		12	18	0	0	0	0.001368	0	12	18				
DNAAF1	123872	broad.mit.edu	37	16	84199407	84199407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:84199407G>T	ENST00000378553.5	+	7	1006	c.882G>T	c.(880-882)tgG>tgT	p.W294C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.W294C|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	294	LRRCT.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGGAGGCCTGGGCTAGGGGAG	0.483																																							uc002fhl.3		NA																	0					0						c.(880-882)TGG>TGT		leucine rich repeat containing 50							121.0	126.0	125.0					16																	84199407		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199407G>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.882G>T	16.37:g.84199407G>T	ENSP00000367815:p.Trp294Cys					LRRC50_uc010vnw.1_Missense_Mutation_p.W42C	p.W294C	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1063	+			294			LRRCT.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.882G>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145573	0.77888	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22336	1.96;1.96	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.70981	-0.4724	10	0.87932	D	0	-11.174	19.113	0.93326	0.0:0.0:1.0:0.0	.	42;294	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	C	294	ENSP00000334593:W294C;ENSP00000367815:W294C	ENSP00000334593:W294C	W	+	3	0	DNAAF1	82756908	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.819000	0.86621	2.615000	0.88500	0.650000	0.86243	TGG		0.483	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		27	66	1	0	5.60225e-13	0.009535	8.16829e-13	27	66				
FOXC2	2303	broad.mit.edu	37	16	86602192	86602192	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:86602192C>G	ENST00000320354.4	+	1	1336	c.1251C>G	c.(1249-1251)gcC>gcG	p.A417A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	417					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccggggccgccgcggcGCAGG	0.761									Late-onset Hereditary Lymphedema																														uc002fjq.2		NA																	0					0						c.(1249-1251)GCC>GCG		forkhead box C2							6.0	7.0	7.0					16																	86602192		1978	3917	5895	SO:0001819	synonymous_variant	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602192C>G	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1251C>G	16.37:g.86602192C>G							p.A417A	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	1336	+			417			Ala/Pro-rich.|Poly-Ala.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1251C>G	CCDS10958.1																																																																																				0.761	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		4	9	0	0	0	0.009096	0	4	9				
TCF25	22980	broad.mit.edu	37	16	89967134	89967134	+	Missense_Mutation	SNP	G	G	T	rs201329641		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:89967134G>T	ENST00000263346.8	+	12	1369	c.1313G>T	c.(1312-1314)tGt>tTt	p.C438F	TCF25_ENST00000263347.7_Missense_Mutation_p.C203F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	438					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTCCCTGAGTGTGAGCAGAGC	0.592																																							uc002fpb.2		NA																	0					0						c.(1312-1314)TGT>TTT		NULP1							96.0	88.0	91.0					16																	89967134		2197	4300	6497	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89967134G>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1313G>T	16.37:g.89967134G>T	ENSP00000263346:p.Cys438Phe					TCF25_uc002fpc.2_Missense_Mutation_p.C203F	p.C438F	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	12	1395	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	438					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1313G>T	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	4.478	0.088611	0.08583	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.52	-1.22	0.09494	.	1.230630	0.05293	N	0.521543	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.17107	-1.0380	9	0.09843	T	0.71	.	1.1815	0.01846	0.4818:0.2072:0.1581:0.1528	.	203;438	Q9H384;Q9BQ70	.;TCF25_HUMAN	F	438;203	.	ENSP00000263346:C438F	C	+	2	0	TCF25	88494635	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.691000	0.25467	0.038000	0.15604	-0.414000	0.06135	TGT		0.592	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		20	22	1	0	6.33239e-15	0.010504	9.73486e-15	20	22				
SPNS2	124976	broad.mit.edu	37	17	4436619	4436619	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:4436619G>A	ENST00000329078.3	+	8	1380	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	390					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GGTGCCGCCTGAAGACCCAGC	0.637																																							uc002fxx.2		NA																	0					0						c.(1168-1170)CTG>CTA		spinster homolog 2							36.0	37.0	37.0					17																	4436619		1568	3582	5150	SO:0001819	synonymous_variant	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436619G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1170G>A	17.37:g.4436619G>A							p.L390L	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN			8	1384	+			390					B9A1T3	Silent	SNP	ENST00000329078.3	37	c.1170G>A	CCDS42237.1																																																																																				0.637	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			5	24	0	0	0	0.001168	0	5	24				
GP1BA	2811	broad.mit.edu	37	17	4836761	4836761	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:4836761G>A	ENST00000329125.5	+	2	937	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	288					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGATGAAGGTGACACAGACCT	0.517																																							uc010vsq.1		NA																	0					0						c.(862-864)GAC>AAC		platelet glycoprotein Ib alpha polypeptide							122.0	115.0	117.0					17																	4836761		2006	4167	6173	SO:0001583	missense	2811							g.chr17:4836761G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.862G>A	17.37:g.4836761G>A	ENSP00000329380:p.Asp288Asn					uc002fzn.1_RNA	p.D288N	NM_000173	NP_000164	P07359	GP1BA_HUMAN			2	937	+			288					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.862G>A	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975034	0.34848	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.53640	0.61	4.24	0.367	0.16140	.	0.807710	0.10426	N	0.676062	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.15052	0.012	T	0.16129	-1.0413	10	0.41790	T	0.15	-1.6642	4.2979	0.10910	0.246:0.0:0.5634:0.1906	.	288	A5CKE2	.	N	288	ENSP00000329380:D288N	ENSP00000329380:D288N	D	+	1	0	GP1BA	4777541	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.164000	0.16542	0.228000	0.21019	0.313000	0.20887	GAC		0.517	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			20	51	0	0	0	0.001882	0	20	51				
C17orf74	201243	broad.mit.edu	37	17	7330190	7330190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:7330190C>A	ENST00000333870.3	+	3	954	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	294						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCTTGGGTCCCCGTGGGGCA	0.677																																							uc002ggw.2		NA																	0					0						c.(880-882)CCC>ACC		hypothetical protein LOC201243							28.0	30.0	30.0					17																	7330190		2003	4168	6171	SO:0001583	missense	201243					integral to membrane		g.chr17:7330190C>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.880C>A	17.37:g.7330190C>A	ENSP00000328061:p.Pro294Thr					FGF11_uc010vtw.1_Intron	p.P294T	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	953	+		Prostate(122;0.157)	294						Missense_Mutation	SNP	ENST00000333870.3	37	c.880C>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.409933	0.01145	.	.	ENSG00000184560	ENST00000333870	T	0.34667	1.35	4.58	1.35	0.21983	.	0.312835	0.22644	N	0.057405	T	0.16896	0.0406	N	0.14661	0.345	0.21740	N	0.999566	B	0.10296	0.003	B	0.14578	0.011	T	0.20773	-1.0265	10	0.19590	T	0.45	-5.1319	5.4863	0.16751	0.3651:0.5375:0.0:0.0974	.	294	Q0P670	CQ074_HUMAN	T	294	ENSP00000328061:P294T	ENSP00000328061:P294T	P	+	1	0	C17orf74	7270914	0.000000	0.05858	0.035000	0.18076	0.004000	0.04260	-0.218000	0.09240	0.096000	0.17463	-0.335000	0.08231	CCC		0.677	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		19	15	1	0	1.64113e-05	0.010504	1.89019e-05	19	15				
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		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)	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		29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(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	CM012663	TP53	M	rs121912664	c.(1009-1011)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7574017C>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.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	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_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L	p.R337L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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.1010G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	11	1	0	7.03913e-09	0.001368	9.16103e-09	11	11				
MYH2	4620	broad.mit.edu	37	17	10433043	10433043	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:10433043T>C	ENST00000245503.5	-	24	3339	c.2955A>G	c.(2953-2955)acA>acG	p.T985T	MYH2_ENST00000397183.2_Silent_p.T985T|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	985					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCATCTCTTCTGTGAGGTTTT	0.478																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2953-2955)ACA>ACG		myosin heavy chain IIa							183.0	184.0	183.0					17																	10433043		2202	4300	6502	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433043T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2955A>G	17.37:g.10433043T>C						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T985T|MYH2_uc010coj.2_Intron	p.T985T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			24	3083	-			985			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2955A>G	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		23	120	0	0	0	0.00278	0	23	120				
DNAH9	1770	broad.mit.edu	37	17	11513774	11513774	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:11513774T>A	ENST00000262442.4	+	3	744	c.676T>A	c.(676-678)Tac>Aac	p.Y226N	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y226N|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y226N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	226	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)		CAAATGGAGCTACCAAGTCCA	0.443																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(676-678)TAC>AAC		dynein, axonemal, heavy chain 9 isoform 2							92.0	86.0	88.0					17																	11513774		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.chr17:11513774T>A	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.676T>A	17.37:g.11513774T>A	ENSP00000262442:p.Tyr226Asn					DNAH9_uc002gnd.1_Missense_Mutation_p.Y226N	p.Y226N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	3	744	+		Breast(5;0.0122)|all_epithelial(5;0.131)	226			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.676T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.265816	0.40095	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53640	0.61;0.61	5.71	4.75	0.60458	Dynein heavy chain, domain-1 (1);	0.313169	0.29218	N	0.012788	T	0.32912	0.0845	L	0.27053	0.805	0.80722	D	1	B;B	0.17465	0.003;0.022	B;B	0.18263	0.009;0.021	T	0.09574	-1.0668	10	0.17369	T	0.5	.	11.4817	0.50328	0.0:0.8508:0.0:0.1492	.	226;226	Q9NYC9;E7EP17	DYH9_HUMAN;.	N	226	ENSP00000262442:Y226N;ENSP00000414874:Y226N	ENSP00000262442:Y226N	Y	+	1	0	DNAH9	11454499	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.504000	0.45416	1.431000	0.47355	-0.231000	0.12243	TAC		0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	30	0	0	0	0.000602	0	5	30				
TEKT3	64518	broad.mit.edu	37	17	15212006	15212006	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:15212006A>C	ENST00000395930.1	-	8	1417	c.1231T>G	c.(1231-1233)Ttg>Gtg	p.L411V	TEKT3_ENST00000462175.1_5'Flank|RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Missense_Mutation_p.L411V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	411					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTCGGCACAACTCAATGTTC	0.572																																							uc002gon.2		NA																	0				ovary(2)	2						c.(1231-1233)TTG>GTG		tektin 3							182.0	142.0	156.0					17																	15212006		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15212006A>C	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1231T>G	17.37:g.15212006A>C	ENSP00000379263:p.Leu411Val						p.L411V	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	8	1418	-			411					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1231T>G	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	A	9.424	1.083694	0.20309	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.04194	3.68;3.68	5.31	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.45056	-0.9287	10	0.66056	D	0.02	-11.2003	13.2561	0.60079	0.0778:0.0:0.9222:0.0	.	411	Q9BXF9	TEKT3_HUMAN	V	411	ENSP00000379263:L411V;ENSP00000343995:L411V	ENSP00000343995:L411V	L	-	1	2	TEKT3	15152731	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	6.273000	0.72581	1.366000	0.46076	-0.177000	0.13119	TTG		0.572	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		10	56	0	0	0	0.008291	0	10	56				
MPRIP	23164	broad.mit.edu	37	17	17062136	17062136	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:17062136G>T	ENST00000341712.4	+	14	1866	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	MPRIP_ENST00000444976.1_Silent_p.L584L|MPRIP_ENST00000395804.3_Silent_p.L622L|MPRIP_ENST00000395811.5_Silent_p.L622L			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	622	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCCAGGGCTGCCTATGAGCG	0.647																																							uc002gqu.1		NA																	0					0						c.(1864-1866)CTG>CTT		myosin phosphatase-Rho interacting protein							44.0	47.0	46.0					17																	17062136		2198	4292	6490	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17062136G>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1866G>T	17.37:g.17062136G>T						MPRIP_uc002gqv.1_Silent_p.L622L|MPRIP_uc002gqw.1_Silent_p.L377L	p.L622L	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			14	1922	+			622			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.1866G>T	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388978	0.04932	.	.	ENSG00000133030	ENST00000423885	.	.	.	5.22	0.337	0.15966	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	5.3793	0.16181	0.2907:0.0:0.5672:0.1421	.	.	.	.	F	109	.	.	C	+	2	0	MPRIP	17002861	1.000000	0.71417	0.948000	0.38648	0.286000	0.27126	0.918000	0.28678	0.196000	0.20367	-0.448000	0.05591	TGC		0.647	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		17	34	1	0	1.15088e-07	0.004007	1.43066e-07	17	34				
ALKBH5	54890	broad.mit.edu	37	17	18110155	18110155	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:18110155A>T	ENST00000399138.4	+	3	883	c.878A>T	c.(877-879)gAa>gTa	p.E293V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	293					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCCCGGTTGGAAACAAAGTCC	0.552																																					Ovarian(166;154 1953 40235 46283 46309)	Ovarian(166;154 1953 40235 46283 46309)	uc010cpw.2		NA																	0					0						c.(877-879)GAA>GTA		alkB, alkylation repair homolog 5							195.0	206.0	202.0					17																	18110155		1949	4134	6083	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18110155A>T	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.878A>T	17.37:g.18110155A>T	ENSP00000382091:p.Glu293Val					ALKBH5_uc010cpx.2_RNA	p.E293V	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN			3	1569	+	all_neural(463;0.228)		293					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.878A>T	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532678	0.85812	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.046420	0.85682	D	0.000000	T	0.45577	0.1349	N	0.14661	0.345	0.53005	D	0.999967	D	0.60160	0.987	P	0.49361	0.608	T	0.49418	-0.8942	9	0.46703	T	0.11	.	15.7046	0.77569	1.0:0.0:0.0:0.0	.	293	Q6P6C2-2	.	V	293;282;293	.	ENSP00000261650:E293V	E	+	2	0	ALKBH5	18050880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.864000	0.69575	2.115000	0.64714	0.533000	0.62120	GAA		0.552	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		51	143	0	0	0	0.00361	0	51	143				
TOP3A	7156	broad.mit.edu	37	17	18205586	18205586	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:18205586C>T	ENST00000321105.5	-	7	1020	c.806G>A	c.(805-807)aGa>aAa	p.R269K	TOP3A_ENST00000540524.1_5'Flank|TOP3A_ENST00000542570.1_Missense_Mutation_p.R174K	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	269					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						ACCTTTAATTCTGTGGAAGAT	0.507																																							uc002gsx.1		NA																	0				skin(3)	3						c.(805-807)AGA>AAA		topoisomerase (DNA) III alpha							39.0	42.0	41.0					17																	18205586		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18205586C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.806G>A	17.37:g.18205586C>T	ENSP00000321636:p.Arg269Lys					TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.R167K|TOP3A_uc010cqa.1_RNA	p.R269K	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			7	1035	-			269					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.806G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893680	0.33442	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.20598	2.06;2.06	6.07	-6.66	0.01789	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);	0.215482	0.56097	N	0.000039	T	0.04452	0.0122	N	0.00771	-1.2	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.41928	-0.9481	10	0.02654	T	1	-4.2296	16.3196	0.82941	0.0:0.1666:0.0:0.8334	.	174;269	B4DK80;Q13472	.;TOP3A_HUMAN	K	269;174	ENSP00000321636:R269K;ENSP00000442336:R174K	ENSP00000321636:R269K	R	-	2	0	TOP3A	18146311	1.000000	0.71417	0.199000	0.23439	0.376000	0.30014	2.217000	0.42880	-1.069000	0.03153	0.655000	0.94253	AGA		0.507	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			5	23	0	0	0	0.001168	0	5	23				
ALDH3A2	224	broad.mit.edu	37	17	19575133	19575133	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:19575133A>T	ENST00000176643.6	+	9	1753	c.1307A>T	c.(1306-1308)aAc>aTc	p.N436I	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N436I|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N436I|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000571163.1_Intron			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	436					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GAAGGTGCTAACAAACTCAGA	0.408																																							uc002gwb.1		NA																	0				ovary(2)	2						c.(1306-1308)AAC>ATC		aldehyde dehydrogenase 3A2 isoform 2	NADH(DB00157)						110.0	120.0	116.0					17																	19575133		2203	4300	6503	SO:0001583	missense	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19575133A>T	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1307A>T	17.37:g.19575133A>T	ENSP00000176643:p.Asn436Ile					ALDH3A2_uc002gwa.1_Missense_Mutation_p.N436I|ALDH3A2_uc010cqr.1_Missense_Mutation_p.N243I|ALDH3A2_uc002gwc.1_Missense_Mutation_p.N436I|ALDH3A2_uc002gwd.1_Missense_Mutation_p.N243I	p.N436I	NM_000382	NP_000373	P51648	AL3A2_HUMAN			9	1528	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		436			Cytoplasmic.		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.1307A>T	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913451	0.92178	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.81499	-1.5;-1.5;-1.5	6.06	6.06	0.98353	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	L	0.27053	0.805	0.80722	D	1	D;D	0.58620	0.983;0.982	P;P	0.62649	0.862;0.905	T	0.78957	-0.1999	10	0.22109	T	0.4	-34.0664	15.7938	0.78394	1.0:0.0:0.0:0.0	.	436;436	P51648;P51648-2	AL3A2_HUMAN;.	I	436	ENSP00000176643:N436I;ENSP00000378942:N436I;ENSP00000345774:N436I	ENSP00000176643:N436I	N	+	2	0	ALDH3A2	19515725	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.854000	0.62918	2.322000	0.78497	0.528000	0.53228	AAC		0.408	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			57	38	0	0	0	0.00361	0	57	38				
MAP2K3	5606	broad.mit.edu	37	17	21206509	21206509	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:21206509G>T	ENST00000342679.4	+	7	780	c.531G>T	c.(529-531)ctG>ctT	p.L177L	MAP2K3_ENST00000361818.5_Silent_p.L148L|MAP2K3_ENST00000316920.6_Silent_p.L148L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGCGGGCCCTGGAGCATCTGC	0.627																																							uc002gys.2		NA																	0					0						c.(529-531)CTG>CTT		mitogen-activated protein kinase kinase 3							50.0	42.0	45.0					17																	21206509		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21206509G>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.531G>T	17.37:g.21206509G>T						MAP2K3_uc002gyt.2_Silent_p.L148L|MAP2K3_uc002gyu.2_Silent_p.L148L	p.L177L	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	7	796	+			177			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.531G>T	CCDS11217.1																																																																																				0.627	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		10	19	1	0	1.41608e-15	0.001855	2.21233e-15	10	19				
KSR1	8844	broad.mit.edu	37	17	25909746	25909746	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:25909746G>T	ENST00000319524.6	+	4	595	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	KSR1_ENST00000268763.6_Missense_Mutation_p.D62Y|KSR1_ENST00000509603.2_Missense_Mutation_p.D199Y|KSR1_ENST00000398988.3_Missense_Mutation_p.D62Y			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	199					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCTTCCACGGACACCCTCTC	0.662																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	0				lung(3)|central_nervous_system(1)	4						c.(184-186)GAC>TAC		kinase suppressor of ras							36.0	42.0	40.0					17																	25909746		2040	4210	6250	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909746G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.595G>T	17.37:g.25909746G>T	ENSP00000323178:p.Asp199Tyr					KSR1_uc002gzj.1_Intron	p.D62Y	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	629	+	Lung NSC(42;0.00836)		197					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.184G>T		.	.	.	.	.	.	.	.	.	.	G	13.63	2.295802	0.40594	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	.	0.209962	0.50627	D	0.000103	T	0.00637	0.0021	L	0.54323	1.7	0.43555	D	0.995865	D	0.57899	0.981	P	0.50231	0.635	T	0.77965	-0.2389	10	0.66056	D	0.02	.	9.4375	0.38648	0.0752:0.0:0.7797:0.1451	.	197	Q8IVT5	KSR1_HUMAN	Y	199;199;62;62	ENSP00000323178:D199Y;ENSP00000438795:D199Y;ENSP00000268763:D62Y	ENSP00000268763:D62Y	D	+	1	0	KSR1	22933873	1.000000	0.71417	0.115000	0.21578	0.029000	0.11900	4.250000	0.58772	2.695000	0.91970	0.455000	0.32223	GAC		0.662	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		18	41	1	0	2.37509e-13	0.010504	3.5127e-13	18	41				
SPAG5	10615	broad.mit.edu	37	17	26907094	26907094	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:26907094G>T	ENST00000321765.5	-	16	3062	c.2730C>A	c.(2728-2730)acC>acA	p.T910T	ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	910					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GGTGTTCCTGGGTGGGAGGAC	0.517																																							uc002hbq.2		NA																	0				central_nervous_system(1)	1						c.(2728-2730)ACC>ACA		sperm associated antigen 5							92.0	73.0	80.0					17																	26907094		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26907094G>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2730C>A	17.37:g.26907094G>T						SGK494_uc010waq.1_Silent_p.T315T	p.T910T	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			16	2822	-	Lung NSC(42;0.00431)		910					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.2730C>A	CCDS32594.1																																																																																				0.517	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		20	35	1	0	4.47668e-21	0.003954	7.77756e-21	20	35				
SDF2	6388	broad.mit.edu	37	17	26982305	26982305	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:26982305C>A	ENST00000247020.4	-	2	646	c.348G>T	c.(346-348)caG>caT	p.Q116H	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	116	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GCCACCTCACCTGGTTTCCAG	0.483																																							uc002hbw.2		NA																	0					0						c.(346-348)CAG>CAT		stromal cell-derived factor 2 precursor							117.0	103.0	108.0					17																	26982305		2203	4300	6503	SO:0001630	splice_region_variant	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26982305C>A	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.348+1G>T	17.37:g.26982305C>A						SDF2_uc002hbx.2_RNA	p.Q116H	NM_006923	NP_008854	Q99470	SDF2_HUMAN			2	387	-	Lung NSC(42;0.00431)		116			MIR 2.		Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.348G>T	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040228	0.93630	.	.	ENSG00000132581	ENST00000247020	D	0.84730	-1.89	5.72	5.72	0.89469	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93155	0.6553	9	.	.	.	-15.3624	19.8651	0.96802	0.0:1.0:0.0:0.0	.	116	Q99470	SDF2_HUMAN	H	116	ENSP00000247020:Q116H	.	Q	-	3	2	SDF2	24006432	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.752000	0.68728	2.700000	0.92200	0.561000	0.74099	CAG		0.483	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923	Missense_Mutation	16	62	1	0	1.15088e-07	0.004007	1.43066e-07	16	62				
SLFN11	91607	broad.mit.edu	37	17	33690515	33690515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:33690515G>T	ENST00000394566.1	-	4	584	c.312C>A	c.(310-312)taC>taA	p.Y104*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.Y104*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	104					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAACAAAAATGTAAAAACACC	0.448																																							uc010ctp.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(310-312)TAC>TAA		schlafen family member 11							73.0	70.0	71.0					17																	33690515		2203	4300	6503	SO:0001587	stop_gained	91607					nucleus	ATP binding	g.chr17:33690515G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.312C>A	17.37:g.33690515G>T	ENSP00000378067:p.Tyr104*					SLFN11_uc010ctq.2_Nonsense_Mutation_p.Y104*|SLFN11_uc002hjh.3_Nonsense_Mutation_p.Y104*|SLFN11_uc002hjg.3_Nonsense_Mutation_p.Y104*|SLFN11_uc010ctr.2_Nonsense_Mutation_p.Y104*	p.Y104*	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	754	-		Ovarian(249;0.17)	104					E1P643|Q8N3S8|Q8N762|Q8TEE0	Nonsense_Mutation	SNP	ENST00000394566.1	37	c.312C>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799025	0.50208	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	.	.	.	4.18	1.04	0.20106	.	0.230687	0.22448	N	0.059933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	4.0846	0.09942	0.2181:0.1953:0.5867:0.0	.	.	.	.	X	104	.	ENSP00000312402:Y104X	Y	-	3	2	SLFN11	30714628	0.014000	0.17966	0.005000	0.12908	0.187000	0.23431	-0.036000	0.12185	0.083000	0.17047	-0.140000	0.14226	TAC		0.448	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		33	44	1	0	8.16721e-17	0.002096	1.30712e-16	33	44				
STARD3	10948	broad.mit.edu	37	17	37818598	37818598	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:37818598G>T	ENST00000336308.5	+	14	1451		c.e14+1		STARD3_ENST00000544210.2_Splice_Site|STARD3_ENST00000394250.4_Splice_Site|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000580611.1_Missense_Mutation_p.V386L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3						cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATCTCAAGGTGGGGTGCTG	0.592																																							uc002hsd.2		NA																	0					0						c.e14+1		StAR-related lipid transfer (START) domain							31.0	33.0	32.0					17																	37818598		2203	4300	6503	SO:0001630	splice_region_variant	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37818598G>T		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1233+1G>T	17.37:g.37818598G>T						STARD3_uc010weh.1_Splice_Site|STARD3_uc002hse.2_Splice_Site_p.K393_splice|STARD3_uc010wei.1_Splice_Site_p.K411_splice|STARD3_uc002hsf.2_Splice_Site_p.K277_splice|STARD3_uc002hsg.2_Splice_Site_p.K244_splice	p.K411_splice	NM_006804	NP_006795	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		14	1357	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)							A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Splice_Site	SNP	ENST00000336308.5	37	c.1233_splice	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558227	0.86231	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.43010	D	0.994541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.695	0.96022	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STARD3	35072124	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.075000	0.94004	2.750000	0.94351	0.549000	0.68633	.		0.592	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		Intron	3	12	1	0	0.00024832	0.009096	0.00027355	3	12				
KRT27	342574	broad.mit.edu	37	17	38937451	38937451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:38937451G>T	ENST00000301656.3	-	2	556	c.516C>A	c.(514-516)gaC>gaA	p.D172E		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTAGTCTGAAGTCATCAGCTG	0.333																																							uc002hvg.2		NA																	0					0						c.(514-516)GAC>GAA		keratin 27							92.0	80.0	84.0					17																	38937451		2203	4299	6502	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38937451G>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.516C>A	17.37:g.38937451G>T	ENSP00000301656:p.Asp172Glu						p.D172E	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			2	557	-		Breast(137;0.000812)	172			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000301656.3	37	c.516C>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312247	0.81358	.	.	ENSG00000171446	ENST00000301656	T	0.79352	-1.26	5.58	5.58	0.84498	Filament (1);	0.000000	0.64402	D	0.000001	D	0.88618	0.6485	M	0.86343	2.81	0.44515	D	0.997468	D	0.89917	1.0	D	0.78314	0.991	D	0.89745	0.3936	10	0.87932	D	0	.	12.4841	0.55861	0.0798:0.0:0.9202:0.0	.	172	Q7Z3Y8	K1C27_HUMAN	E	172	ENSP00000301656:D172E	ENSP00000301656:D172E	D	-	3	2	KRT27	36190977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.491000	0.45303	2.785000	0.95823	0.650000	0.86243	GAC		0.333	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		8	14	1	0	5.4927e-09	0.004482	7.17435e-09	8	14				
KRTAP9-2	83899	broad.mit.edu	37	17	39383169	39383169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:39383169C>A	ENST00000377721.3	+	1	270	c.263C>A	c.(262-264)cCc>cAc	p.P88H	KRTAP9-2_ENST00000455970.2_Splice_Site_p.P72H	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	88	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGCCAGCCCACCTGCTGT	0.617																																							uc002hwf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(262-264)CCC>CAC		keratin associated protein 9.2							40.0	41.0	40.0					17																	39383169		2203	4295	6498	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39383169C>A	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.263C>A	17.37:g.39383169C>A	ENSP00000366950:p.Pro88His						p.P88H	NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	270	+		Breast(137;0.000496)	88			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|11.		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.263C>A	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	14.13	2.443577	0.43429	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.02258	4.37;4.37	3.45	3.45	0.39498	.	.	.	.	.	T	0.14830	0.0358	M	0.91510	3.215	0.09310	N	0.999995	D	0.76494	0.999	D	0.63703	0.917	T	0.02901	-1.1096	9	0.66056	D	0.02	.	13.2733	0.60175	0.0:1.0:0.0:0.0	.	88	Q9BYQ4	KRA92_HUMAN	H	88;72	ENSP00000366950:P88H;ENSP00000398325:P72H	ENSP00000366950:P88H	P	+	2	0	KRTAP9-2	36636695	0.005000	0.15991	0.774000	0.31636	0.541000	0.35023	1.380000	0.34351	1.878000	0.54408	0.552000	0.68991	CCC		0.617	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			41	48	1	0	4.64027e-19	0.00361	7.79867e-19	41	48				
EFTUD2	9343	broad.mit.edu	37	17	42953336	42953336	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:42953336G>A	ENST00000426333.2	-	10	1132	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R279C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R269C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R244C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	279	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACAATGTGGCGCAGCTTGTAA	0.512																																					Ovarian(10;65 485 10258 29980 30707)	Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NA																	0				ovary(1)	1						c.(835-837)CGC>TGC		elongation factor Tu GTP binding domain							197.0	183.0	188.0					17																	42953336		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953336G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.835C>T	17.37:g.42953336G>A	ENSP00000392094:p.Arg279Cys					EFTUD2_uc010wje.1_Missense_Mutation_p.R244C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R269C	p.R279C	NM_004247	NP_004238	Q15029	U5S1_HUMAN			10	1096	-		Prostate(33;0.109)	279					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.835C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534242	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77750	-1.12;-1.12	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65140	0.932;0.932	D	0.85331	0.1090	10	0.59425	D	0.04	-10.7074	14.8502	0.70292	0.0:0.0:0.8561:0.1438	.	269;279	B4DMC0;Q15029	.;U5S1_HUMAN	C	279;269;244	ENSP00000392094:R279C;ENSP00000385873:R244C	ENSP00000262414:R269C	R	-	1	0	EFTUD2	40308862	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.300000	0.59079	2.589000	0.87451	0.591000	0.81541	CGC		0.512	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		47	177	0	0	0	0.002852	0	47	177				
NMT1	4836	broad.mit.edu	37	17	43175843	43175843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:43175843G>T	ENST00000592782.1	+	8	938	c.807G>T	c.(805-807)agG>agT	p.R269S	NMT1_ENST00000258960.2_Missense_Mutation_p.R269S			P30419	NMT1_HUMAN	N-myristoyltransferase 1	269					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGATCACCAGGCGGGTTCACC	0.527																																							uc002ihz.2		NA																	0					0						c.(805-807)AGG>AGT		N-myristoyltransferase 1							113.0	109.0	110.0					17																	43175843		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43175843G>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.807G>T	17.37:g.43175843G>T	ENSP00000468424:p.Arg269Ser					NMT1_uc002iia.2_RNA	p.R269S	NM_021079	NP_066565	P30419	NMT1_HUMAN			7	825	+		Prostate(33;0.155)	269					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.807G>T	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691576	0.68271	.	.	ENSG00000136448	ENST00000258960	T	0.63913	-0.07	5.49	2.48	0.30137	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	H	0.94582	3.555	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.77487	-0.2569	10	0.87932	D	0	-19.777	4.7932	0.13259	0.2888:0.0:0.5717:0.1394	.	269	P30419	NMT1_HUMAN	S	269	ENSP00000258960:R269S	ENSP00000258960:R269S	R	+	3	2	NMT1	40531369	0.775000	0.28604	0.994000	0.49952	0.870000	0.49936	0.993000	0.29680	0.453000	0.26858	-0.140000	0.14226	AGG		0.527	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		52	80	1	0	1.00221e-16	0.00361	1.60043e-16	52	80				
ACBD4	79777	broad.mit.edu	37	17	43213951	43213951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:43213951G>T	ENST00000376955.4	+	3	470	c.173G>T	c.(172-174)cGg>cTg	p.R58L	ACBD4_ENST00000431281.1_Missense_Mutation_p.R58L|ACBD4_ENST00000586346.1_Missense_Mutation_p.R58L|ACBD4_ENST00000321854.8_Missense_Mutation_p.R58L|ACBD4_ENST00000398322.3_Missense_Mutation_p.R58L|ACBD4_ENST00000591859.1_Missense_Mutation_p.R58L|ACBD4_ENST00000592162.1_Missense_Mutation_p.R58L|ACBD4_ENST00000591136.1_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	58	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CTGGTCCCCCGGCCCGGGTTC	0.607																																							uc002iid.2		NA																	0				ovary(1)|kidney(1)	2						c.(172-174)CGG>CTG		acyl-Coenzyme A binding domain containing 4							49.0	56.0	54.0					17																	43213951		1859	4086	5945	SO:0001583	missense	79777						fatty-acyl-CoA binding	g.chr17:43213951G>T	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.173G>T	17.37:g.43213951G>T	ENSP00000366154:p.Arg58Leu					ACBD4_uc010wjj.1_Missense_Mutation_p.R58L|ACBD4_uc002iie.2_Missense_Mutation_p.R58L|ACBD4_uc002iif.2_Missense_Mutation_p.R58L|ACBD4_uc002iic.2_Missense_Mutation_p.R58L|ACBD4_uc010dae.2_5'UTR	p.R58L	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			3	517	+			58			ACB.		D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.173G>T	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988622	0.93106	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.15	4.12	0.48240	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.070788	0.56097	D	0.000033	T	0.50051	0.1593	M	0.92833	3.35	0.43058	D	0.994679	P;P;D	0.53885	0.931;0.679;0.963	P;B;P	0.53549	0.722;0.284;0.729	T	0.62599	-0.6820	10	0.87932	D	0	.	11.0234	0.47730	0.0953:0.0:0.9047:0.0	.	58;58;58	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	L	58	ENSP00000405969:R58L;ENSP00000314440:R58L;ENSP00000381367:R58L;ENSP00000366154:R58L	ENSP00000314440:R58L	R	+	2	0	ACBD4	40569477	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	7.147000	0.77382	1.291000	0.44653	0.561000	0.74099	CGG		0.607	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		23	87	1	0	3.85864e-22	0.00278	6.76083e-22	23	87				
MRPL45P2	653479	broad.mit.edu	37	17	45560458	45560458	+	RNA	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:45560458T>C	ENST00000575291.1	-	0	507									mitochondrial ribosomal protein L45 pseudogene 2																		CTCCGGATTCTGTAAAATTAA	0.348																																							uc002ilp.1		NA																	0					NA						c.e4-1		Homo sapiens cDNA clone IMAGE:5266250, containing frame-shift errors.																																						0							g.chr17:45560458T>C			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45560458T>C						uc002ilq.2_Splice_Site								4		-									Splice_Site	SNP	ENST00000575291.1	37	c.397_splice																																																																																					0.348	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441112.1	NR_033934		24	37	0	0	0	0.00361	0	24	37				
HOXB5	3215	broad.mit.edu	37	17	46670529	46670529	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:46670529C>G	ENST00000239151.5	-	1	794	c.516G>C	c.(514-516)caG>caC	p.Q172H	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000460160.1_5'Flank	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	172					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						TTTGCGGAGTCTGCCCCTCGG	0.597																																							uc002inr.2		NA																	0					0						c.(514-516)CAG>CAC		homeobox B5							39.0	44.0	42.0					17																	46670529		2203	4299	6502	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670529C>G		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.516G>C	17.37:g.46670529C>G	ENSP00000239151:p.Gln172His					HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	p.Q172H	NM_002147	NP_002138	P09067	HXB5_HUMAN			1	575	-			172					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.516G>C	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594694	0.28445	.	.	ENSG00000120075	ENST00000239151	D	0.92348	-3.02	5.09	5.09	0.68999	.	0.057045	0.64402	D	0.000001	D	0.93716	0.7992	M	0.76838	2.35	0.47737	D	0.999502	D	0.61697	0.99	P	0.49922	0.626	D	0.92922	0.6356	10	0.32370	T	0.25	.	18.1016	0.89507	0.0:1.0:0.0:0.0	.	172	P09067	HXB5_HUMAN	H	172	ENSP00000239151:Q172H	ENSP00000239151:Q172H	Q	-	3	2	HOXB5	44025528	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.686000	0.37669	2.362000	0.80069	0.455000	0.32223	CAG		0.597	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			32	46	0	0	0	0.004878	0	32	46				
ABI3	51225	broad.mit.edu	37	17	47297531	47297531	+	Splice_Site	SNP	C	C	T	rs147987389		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:47297531C>T	ENST00000225941.1	+	6	1143	c.645C>T	c.(643-645)ggC>ggT	p.G215G	ABI3_ENST00000419580.2_Splice_Site_p.G209G	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	215					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGGTGTTCAGCAGCGCCGAAG	0.682										HNSCC(55;0.14)																													uc002iop.1		NA																	0					0						c.(643-645)GGC>GGT		NESH protein isoform 1		C	,	1,4405	2.1+/-5.4	0,1,2202	31.0	34.0	33.0		627,645	2.4	1.0	17	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ABI3	NM_001135186.1,NM_016428.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	209/361,215/367	47297531	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47297531C>T	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.645-1C>T	17.37:g.47297531C>T		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.G209G	p.G215G	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		6	1143	+			215					C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.645C>T	CCDS11546.1																																																																																				0.682	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428	Silent	5	34	0	0	0	0.001984	0	5	34				
MYCBPAP	84073	broad.mit.edu	37	17	48603308	48603308	+	Missense_Mutation	SNP	G	G	T	rs199636857		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:48603308G>T	ENST00000323776.5	+	14	2140	c.1978G>T	c.(1978-1980)Gcc>Tcc	p.A660S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A623S	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACCCTGCCCGCCAAGGCTGA	0.597																																							uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(1978-1980)GCC>TCC		Myc-binding protein-associated protein							92.0	79.0	83.0					17																	48603308		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48603308G>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1978G>T	17.37:g.48603308G>T	ENSP00000323184:p.Ala660Ser					MYCBPAP_uc002iqz.2_RNA	p.A660S	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		14	2140	+	Breast(11;1.23e-18)		623						Missense_Mutation	SNP	ENST00000323776.5	37	c.1978G>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365945	0.11352	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.22945	1.94;1.93	5.38	-10.8	0.00216	.	0.975439	0.08446	N	0.944748	T	0.08802	0.0218	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22487	-1.0215	10	0.16420	T	0.52	0.7091	0.2481	0.00201	0.2404:0.2393:0.2389:0.2813	.	623	Q8TBZ2	MYBPP_HUMAN	S	660;623	ENSP00000323184:A660S;ENSP00000397209:A623S	ENSP00000323184:A660S	A	+	1	0	MYCBPAP	45958307	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.346000	0.02634	-1.751000	0.01326	-1.894000	0.00533	GCC		0.597	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		48	121	1	0	1.61004e-24	0.00361	2.90573e-24	48	121				
KIF2B	84643	broad.mit.edu	37	17	51902405	51902405	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:51902405A>T	ENST00000268919.4	+	1	2167	c.2011A>T	c.(2011-2013)Aag>Tag	p.K671*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	671					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAAGAGCAAGGTAGAGTG	0.438																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(2011-2013)AAG>TAG		kinesin family member 2B							48.0	47.0	47.0					17																	51902405		2203	4300	6503	SO:0001587	stop_gained	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902405A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.2011A>T	17.37:g.51902405A>T	ENSP00000268919:p.Lys671*					uc010wna.1_RNA	p.K671*	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2167	+			671					Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	c.2011A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430947	0.62844	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.43	0.258	0.15578	.	1.284960	0.05834	N	0.618095	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.7969	0.18392	0.4915:0.3473:0.1611:0.0	.	.	.	.	X	671;559	.	ENSP00000268919:K671X	K	+	1	0	KIF2B	49257404	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.796000	0.26986	0.427000	0.26145	0.533000	0.62120	AAG		0.438	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		4	19	0	0	0	0.000602	0	4	19				
MTMR4	9110	broad.mit.edu	37	17	56572926	56572926	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:56572926C>A	ENST00000323456.5	-	16	2701	c.2577G>T	c.(2575-2577)ggG>ggT	p.G859G	MTMR4_ENST00000579925.1_Silent_p.G802G	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	859					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTTCCTCCCCATGGGTCA	0.478																																							uc002iwj.2		NA																	0				skin(1)	1						c.(2575-2577)GGG>GGT		myotubularin related protein 4							59.0	64.0	62.0					17																	56572926		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572926C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2577G>T	17.37:g.56572926C>A							p.G859G	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			16	2687	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		859					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2577G>T	CCDS11608.1																																																																																				0.478	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		13	63	1	0	0.000151284	0.001855	0.000168068	13	63				
MTMR4	9110	broad.mit.edu	37	17	56586171	56586171	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:56586171C>T	ENST00000323456.5	-	6	449	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E109K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	109					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAGCCACTCTTGGCACTGC	0.587																																							uc002iwj.2		NA																	0				skin(1)	1						c.(325-327)GAG>AAG		myotubularin related protein 4							52.0	45.0	47.0					17																	56586171		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56586171C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.325G>A	17.37:g.56586171C>T	ENSP00000325285:p.Glu109Lys						p.E109K	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			6	435	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		109					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.325G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655464	0.67586	.	.	ENSG00000108389	ENST00000323456	D	0.82711	-1.64	5.91	5.91	0.95273	.	0.047018	0.85682	D	0.000000	D	0.88142	0.6357	M	0.72479	2.2	0.80722	D	1	P	0.51147	0.942	P	0.51945	0.685	D	0.88733	0.3238	10	0.72032	D	0.01	.	18.8601	0.92268	0.0:1.0:0.0:0.0	.	109	Q9NYA4	MTMR4_HUMAN	K	109	ENSP00000325285:E109K	ENSP00000325285:E109K	E	-	1	0	MTMR4	53941170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.813000	0.96785	0.655000	0.94253	GAG		0.587	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		9	43	0	0	0	0.008291	0	9	43				
MED13	9969	broad.mit.edu	37	17	60062082	60062082	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:60062082G>C	ENST00000397786.2	-	14	2697	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	874					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTATACTAGAACTATTTCC	0.338																																							uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2620-2622)TCT>TGT		mediator complex subunit 13							93.0	85.0	87.0					17																	60062082		1814	4068	5882	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062082G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2621C>G	17.37:g.60062082G>C	ENSP00000380888:p.Ser874Cys						p.S874C	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			14	2698	-			874					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2621C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025099	0.35701	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75704	-0.96	6.06	5.09	0.68999	.	0.104264	0.64402	N	0.000002	T	0.67335	0.2882	L	0.50333	1.59	0.46678	D	0.999151	B	0.11235	0.004	B	0.08055	0.003	T	0.63310	-0.6666	10	0.39692	T	0.17	-12.1211	10.7253	0.46064	0.0678:0.1326:0.7996:0.0	.	874	Q9UHV7	MED13_HUMAN	C	874;873	ENSP00000380888:S874C	ENSP00000262436:S873C	S	-	2	0	MED13	57416864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.369000	0.66138	1.545000	0.49373	0.650000	0.86243	TCT		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		9	58	0	0	0	0.006214	0	9	58				
ABCA10	10349	broad.mit.edu	37	17	67215830	67215830	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:67215830C>A	ENST00000269081.4	-	7	1295	c.386G>T	c.(385-387)gGa>gTa	p.G129V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G129V|ABCA10_ENST00000432313.2_Missense_Mutation_p.G129V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	129					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATAATTTCTCCCTTAGAAAT	0.313																																							uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(385-387)GGA>GTA		ATP-binding cassette, sub-family A, member 10							69.0	73.0	72.0					17																	67215830		2202	4295	6497	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67215830C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.386G>T	17.37:g.67215830C>A	ENSP00000269081:p.Gly129Val					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Missense_Mutation_p.G21V	p.G129V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			7	1265	-	Breast(10;6.95e-12)		129					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.386G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	3.035	-0.198809	0.06219	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.86769	-2.17;-2.17;-2.17	3.73	-6.99	0.01605	.	1.671920	0.04299	U	0.346943	T	0.81254	0.4784	L	0.55990	1.75	0.18873	N	0.999988	B;B	0.24721	0.066;0.11	B;B	0.32980	0.142;0.156	T	0.65969	-0.6039	10	0.34782	T	0.22	.	1.8747	0.03216	0.1218:0.1911:0.2413:0.4458	.	129;129	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	V	129	ENSP00000269081:G129V;ENSP00000407772:G129V;ENSP00000387674:G129V	ENSP00000269081:G129V	G	-	2	0	ABCA10	64727425	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.768000	0.00371	-1.901000	0.01096	-1.031000	0.02408	GGA		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		23	61	1	0	4.26978e-12	0.00333	6.0541e-12	23	61				
TTYH2	94015	broad.mit.edu	37	17	72227059	72227059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:72227059G>T	ENST00000269346.4	+	3	409	c.335G>T	c.(334-336)aGc>aTc	p.S112I	TTYH2_ENST00000529107.1_Missense_Mutation_p.S91I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	112						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TATGGAAACAGCGAGACCAAC	0.507																																							uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(334-336)AGC>ATC		tweety 2 isoform 1							194.0	151.0	166.0					17																	72227059		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72227059G>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.335G>T	17.37:g.72227059G>T	ENSP00000269346:p.Ser112Ile					TTYH2_uc010wqw.1_Missense_Mutation_p.S91I	p.S112I	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			3	366	+			112			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.335G>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928386	0.92389	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.14022	2.54;2.54	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.52260	-0.8599	10	0.87932	D	0	-39.4492	17.8392	0.88710	0.0:0.0:1.0:0.0	.	91;112	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	I	112;91	ENSP00000269346:S112I;ENSP00000433089:S91I	ENSP00000269346:S112I	S	+	2	0	TTYH2	69738654	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.147000	0.94646	2.506000	0.84524	0.655000	0.94253	AGC		0.507	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			26	52	1	0	8.24728e-16	0.004656	1.29832e-15	26	52				
TNRC6C	57690	broad.mit.edu	37	17	76047273	76047273	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:76047273G>T	ENST00000588061.1	+	5	2857	c.2130G>T	c.(2128-2130)tgG>tgT	p.W710C	TNRC6C_ENST00000544502.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000335749.4_Missense_Mutation_p.W710C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.W710C|TNRC6C_ENST00000588847.1_Missense_Mutation_p.W710C			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	710	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACTGGCTGGGAAGAACCCT	0.522																																							uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2128-2130)TGG>TGT		trinucleotide repeat containing 6C isoform 2							27.0	29.0	29.0					17																	76047273		1950	4138	6088	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047273G>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2130G>T	17.37:g.76047273G>T	ENSP00000468647:p.Trp710Cys					TNRC6C_uc002juf.2_Missense_Mutation_p.W710C|TNRC6C_uc002jue.2_Missense_Mutation_p.W710C	p.W710C	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	2730	+			710			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.2130G>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707927	0.68615	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.76839	-1.05;-0.97;-0.97;-1.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89539	0.6744	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89443	0.3725	10	0.87932	D	0	-6.2226	20.6634	0.99662	0.0:0.0:1.0:0.0	.	710;710;710	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	C	710	ENSP00000336783:W710C;ENSP00000301624:W710C;ENSP00000440310:W710C;ENSP00000442421:W710C	ENSP00000301624:W710C	W	+	3	0	TNRC6C	73558868	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.787000	0.99055	2.894000	0.99253	0.655000	0.94253	TGG		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		7	7	1	0	0.000274275	0.004482	0.000300993	7	7				
CCDC40	55036	broad.mit.edu	37	17	78055541	78055541	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:78055541A>G	ENST00000397545.4	+	11	1786	c.1759A>G	c.(1759-1761)Agg>Ggg	p.R587G	CCDC40_ENST00000374877.3_Missense_Mutation_p.R587G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	587					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAATACCTACAGGCTCACCCT	0.642																																							uc010dht.2		NA																	0				ovary(3)	3						c.(1759-1761)AGG>GGG		coiled-coil domain containing 40							32.0	37.0	35.0					17																	78055541		2094	4204	6298	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055541A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1759A>G	17.37:g.78055541A>G	ENSP00000380679:p.Arg587Gly					CCDC40_uc002jxm.3_Missense_Mutation_p.R370G|CCDC40_uc002jxn.3_5'UTR	p.R587G	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		11	1786	+	all_neural(118;0.167)		587			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1759A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	2.286	-0.363676	0.05103	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.87	5.25	0.246	0.15516	.	.	.	.	.	T	0.41050	0.1142	L	0.57536	1.79	0.09310	N	1	B;B	0.29341	0.242;0.161	B;B	0.26094	0.066;0.063	T	0.21827	-1.0234	9	0.33141	T	0.24	-12.1405	10.4579	0.44561	0.3506:0.5785:0.0709:0.0	.	587;370	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	G	587	ENSP00000364011:R587G;ENSP00000380679:R587G	ENSP00000364011:R587G	R	+	1	2	CCDC40	75670136	0.000000	0.05858	0.014000	0.15608	0.017000	0.09413	-0.314000	0.08092	-0.242000	0.09667	0.533000	0.62120	AGG		0.642	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	18	0	0	0	0.001984	0	6	18				
RPTOR	57521	broad.mit.edu	37	17	78681641	78681641	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:78681641G>T	ENST00000306801.3	+	4	711	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	RPTOR_ENST00000544334.2_Splice_Site_p.A117S|RPTOR_ENST00000570891.1_Splice_Site_p.A117S|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	117					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGCAACAGGCCCGGTACAA	0.512																																							uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(349-351)GCC>TCC		raptor isoform 1							52.0	46.0	48.0					17																	78681641		2203	4300	6503	SO:0001630	splice_region_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78681641G>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.349-1G>T	17.37:g.78681641G>T						RPTOR_uc002jys.2_Missense_Mutation_p.A117S|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.A117S	p.A117S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			4	1154	+			117					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.349G>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687105	0.88639	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48201	0.82;0.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.98;0.999	T	0.75139	-0.3423	9	.	.	.	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	117;117	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	117	ENSP00000307272:A117S;ENSP00000442479:A117S	.	A	+	1	0	RPTOR	76296236	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	GCC		0.512	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	Missense_Mutation	6	33	1	0	2.0095e-06	0.001984	2.38297e-06	6	33				
TEX19	400629	broad.mit.edu	37	17	80320452	80320452	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:80320452C>T	ENST00000333437.4	+	2	736	c.426C>T	c.(424-426)acC>acT	p.T142T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	142					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.T142T(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CTGACTGGACCCAGGGTCTTC	0.582																																							uc002keq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)ACC>ACT		testis expressed 19							58.0	58.0	58.0					17																	80320452		2203	4298	6501	SO:0001819	synonymous_variant	400629					nucleus		g.chr17:80320452C>T	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.426C>T	17.37:g.80320452C>T							p.T142T	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN			2	735	+			142						Silent	SNP	ENST00000333437.4	37	c.426C>T	CCDS11809.1																																																																																				0.582	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		35	98	0	0	0	0.002836	0	35	98				
LAMA1	284217	broad.mit.edu	37	18	7017304	7017304	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:7017304C>A	ENST00000389658.3	-	20	2874	c.2781G>T	c.(2779-2781)gtG>gtT	p.V927V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	927	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGTCCAGTCACGTTTGGTT	0.498																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2779-2781)GTG>GTT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						172.0	126.0	142.0					18																	7017304		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7017304C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2781G>T	18.37:g.7017304C>A						LAMA1_uc010wzj.1_Silent_p.V403V	p.V927V	NM_005559	NP_005550	P25391	LAMA1_HUMAN			20	2875	-		Colorectal(10;0.172)	927			Laminin EGF-like 9.			Silent	SNP	ENST00000389658.3	37	c.2781G>T	CCDS32787.1																																																																																				0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	45	1	0	0.00448238	0.004482	0.0047387	7	45				
LAMA1	284217	broad.mit.edu	37	18	7034485	7034485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:7034485G>T	ENST00000389658.3	-	14	2137	c.2044C>A	c.(2044-2046)Ctt>Att	p.L682I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	682	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TACCTGTAAAGAGCCATTTTT	0.363																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2044-2046)CTT>ATT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85.0	86.0	86.0					18																	7034485		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034485G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2044C>A	18.37:g.7034485G>T	ENSP00000374309:p.Leu682Ile					LAMA1_uc010wzj.1_Missense_Mutation_p.L158I	p.L682I	NM_005559	NP_005550	P25391	LAMA1_HUMAN			14	2138	-		Colorectal(10;0.172)	682			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2044C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	7.653	0.683376	0.14907	.	.	ENSG00000101680	ENST00000389658	T	0.36520	1.25	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.250049	0.33610	N	0.004734	T	0.18173	0.0436	N	0.10874	0.06	0.44995	D	0.998014	P	0.45957	0.869	B	0.36766	0.232	T	0.08472	-1.0720	10	0.15499	T	0.54	.	14.0421	0.64681	0.0:0.1942:0.8058:0.0	.	682	P25391	LAMA1_HUMAN	I	682	ENSP00000374309:L682I	ENSP00000374309:L682I	L	-	1	0	LAMA1	7024485	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.792000	0.38754	2.797000	0.96272	0.655000	0.94253	CTT		0.363	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		41	9	1	0	3.4597e-24	0.00361	6.23611e-24	41	9				
CTAGE1	64693	broad.mit.edu	37	18	19996204	19996204	+	5'Flank	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:19996204C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.G524E			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCTTCCTCCTCCCCGTGG	0.512																																							uc002ktv.1		NA																	0				ovary(1)	1						c.(1570-1572)GGA>GAA		cutaneous T-cell lymphoma-associated antigen 1							94.0	96.0	95.0					18																	19996204		2200	4300	6500	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996204C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996204C>T	Exception_encountered						p.G524E	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1675	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		524					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1571G>A		.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768569	0.02974	.	.	ENSG00000212710	ENST00000391403	T	0.08896	3.04	0.614	0.614	0.17603	.	.	.	.	.	T	0.05914	0.0154	L	0.31476	0.935	0.23816	N	0.996767	B	0.27286	0.174	B	0.26770	0.073	T	0.42189	-0.9466	7	.	.	.	.	.	.	.	.	524	Q96RT6	CTGE2_HUMAN	E	524	ENSP00000375220:G524E	.	G	-	2	0	CTAGE1	18250202	1.000000	0.71417	0.232000	0.24009	0.078000	0.17371	2.634000	0.46528	0.581000	0.29539	0.298000	0.19748	GGA		0.512	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		15	83	0	0	0	0.007413	0	15	83				
ZNF521	25925	broad.mit.edu	37	18	22807555	22807555	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:22807555C>A	ENST00000361524.3	-	4	475	c.327G>T	c.(325-327)gaG>gaT	p.E109D	ZNF521_ENST00000538137.2_Missense_Mutation_p.E109D|ZNF521_ENST00000584787.1_De_novo_Start_OutOfFrame|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCTTCTTCCTCTCCAAAAT	0.517			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(325-327)GAG>GAT		zinc finger protein 521							81.0	75.0	77.0					18																	22807555		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807555C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.327G>T	18.37:g.22807555C>A	ENSP00000354794:p.Glu109Asp					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E109D|ZNF521_uc002kvl.2_Translation_Start_Site	p.E109D	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	574	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		109					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.327G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234619	0.22626	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10005	2.92;2.93	6.07	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	N	0.24115	0.695	0.29769	N	0.834892	D	0.71674	0.998	D	0.77557	0.99	T	0.03933	-1.0991	10	0.11794	T	0.64	-37.2702	11.7404	0.51790	0.0:0.7487:0.0:0.2513	.	109	Q96K83	ZN521_HUMAN	D	109;143;109	ENSP00000354794:E109D;ENSP00000382352:E109D	ENSP00000354794:E109D	E	-	3	2	ZNF521	21061553	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.099000	0.31013	1.485000	0.48380	-0.345000	0.07892	GAG		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		48	39	1	0	1.81118e-26	0.00361	3.32704e-26	48	39				
DSC2	1824	broad.mit.edu	37	18	28667691	28667691	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:28667691T>A	ENST00000280904.6	-	6	1159	c.716A>T	c.(715-717)aAc>aTc	p.N239I	DSC2_ENST00000251081.6_Missense_Mutation_p.N239I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	239	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATTGGGTAGTTATCATTTTC	0.343																																							uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(715-717)AAC>ATC		desmocollin 2 isoform Dsc2a preproprotein							97.0	100.0	99.0					18																	28667691		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28667691T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.716A>T	18.37:g.28667691T>A	ENSP00000280904:p.Asn239Ile					DSC2_uc002kwk.3_Missense_Mutation_p.N239I	p.N239I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		6	1170	-			239			Cadherin 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000280904.6	37	c.716A>T	CCDS11892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.07|17.07	3.296215|3.296215	0.60086|0.60086	.|.	.|.	ENSG00000134755|ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347|ENST00000438199	T;T|.	0.66099|.	-0.19;-0.19|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);|.	0.000000|.	0.35040|.	N|.	0.003497|.	D|D	0.87067|0.87067	0.6085|0.6085	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.89732|0.89732	0.3927|0.3927	10|6	0.87932|0.38643	D|T	0|0.18	.|.	13.8816|13.8816	0.63686|0.63686	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	239;239|.	Q02487;Q02487-2|.	DSC2_HUMAN;.|.	I|S	239;239;252|5	ENSP00000251081:N239I;ENSP00000280904:N239I|.	ENSP00000251081:N239I|ENSP00000416247:T5S	N|T	-|-	2|1	0|0	DSC2|DSC2	26921689|26921689	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.420000|0.420000	0.31355|0.31355	5.787000|5.787000	0.69013|0.69013	2.112000|2.112000	0.64535|0.64535	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		29	61	0	0	0	0.00632	0	29	61				
DSG4	147409	broad.mit.edu	37	18	28991352	28991352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:28991352C>A	ENST00000308128.4	+	15	2431	c.2296C>A	c.(2296-2298)Ctg>Atg	p.L766M	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L785M	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	766					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGGGAACCCTGCGGGACTA	0.577																																							uc002kwq.2		NA																	0				central_nervous_system(5)|ovary(3)	8						c.(2296-2298)CTG>ATG		desmoglein 4 isoform 2 preproprotein							58.0	56.0	56.0					18																	28991352		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991352C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2296C>A	18.37:g.28991352C>A	ENSP00000311859:p.Leu766Met					DSG4_uc002kwr.2_Missense_Mutation_p.L785M	p.L766M	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2431	+			766			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2296C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646888	0.47258	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54071	0.59;0.59	5.97	4.19	0.49359	.	0.380273	0.15256	N	0.272021	T	0.30166	0.0756	N	0.11427	0.14	0.26183	N	0.979695	B;B	0.19073	0.011;0.033	B;B	0.23150	0.031;0.044	T	0.11179	-1.0598	10	0.33940	T	0.23	.	5.2067	0.15295	0.2085:0.6277:0.0:0.1638	.	785;766	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	M	766;785	ENSP00000311859:L766M;ENSP00000352785:L785M	ENSP00000311859:L766M	L	+	1	2	DSG4	27245350	0.003000	0.15002	0.943000	0.38184	0.649000	0.38597	0.397000	0.20883	1.528000	0.49103	0.655000	0.94253	CTG		0.577	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		12	51	1	0	3.07112e-06	0.000978	3.6122e-06	12	51				
ASXL3	80816	broad.mit.edu	37	18	31319240	31319240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:31319240C>A	ENST00000269197.5	+	11	1872	c.1872C>A	c.(1870-1872)agC>agA	p.S624R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	624	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGTACCAGCCTGCCTTCTC	0.483																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1870-1872)AGC>AGA		additional sex combs like 3							46.0	48.0	47.0					18																	31319240		1895	4107	6002	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319240C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1872C>A	18.37:g.31319240C>A	ENSP00000269197:p.Ser624Arg					ASXL3_uc002kxq.2_Missense_Mutation_p.S331R	p.S624R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1927	+			624			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1872C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658635	0.29515	.	.	ENSG00000141431	ENST00000269197	T	0.17528	2.27	5.46	1.22	0.21188	.	0.871737	0.10279	N	0.693772	T	0.22975	0.0555	L	0.54323	1.7	0.33116	D	0.541138	D	0.53885	0.963	P	0.48425	0.577	T	0.39781	-0.9597	10	0.62326	D	0.03	.	9.5298	0.39187	0.0:0.5261:0.0:0.4739	.	624	Q9C0F0	ASXL3_HUMAN	R	624	ENSP00000269197:S624R	ENSP00000269197:S624R	S	+	3	2	ASXL3	29573238	0.999000	0.42202	0.997000	0.53966	0.978000	0.69477	0.752000	0.26362	0.241000	0.21283	0.460000	0.39030	AGC		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			21	14	1	0	6.44725e-10	0.002299	8.56861e-10	21	14				
ASXL3	80816	broad.mit.edu	37	18	31326557	31326557	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:31326557T>C	ENST00000269197.5	+	12	6745	c.6745T>C	c.(6745-6747)Taa>Caa	p.*2249Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGTTGTACGATAAGAGCTGAG	0.453																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6745-6747)TAA>CAA		additional sex combs like 3							106.0	102.0	103.0					18																	31326557		1991	4173	6164	SO:0001578	stop_lost	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326557T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6745T>C	18.37:g.31326557T>C	ENSP00000269197:p.*2249Glnext*17					ASXL3_uc002kxq.2_Nonstop_Mutation_p.*1956Q	p.*2249Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6800	+			2249					Q6ZMX6|Q96MU3|Q9UFC5	Nonstop_Mutation	SNP	ENST00000269197.5	37	c.6745T>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.136778	0.56936	.	.	ENSG00000141431	ENST00000269197	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	Q	2249	.	.	X	+	1	0	ASXL3	29580555	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.698000	0.84413	2.302000	0.77476	0.533000	0.62120	TAA		0.453	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			18	66	0	0	0	0.00278	0	18	66				
DTNA	1837	broad.mit.edu	37	18	32335943	32335943	+	Start_Codon_SNP	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:32335943G>C	ENST00000399113.3	+	1	3	c.3G>C	c.(1-3)atG>atC	p.M1I	DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Start_Codon_SNP_p.M1I|DTNA_ENST00000554864.3_Start_Codon_SNP_p.M1I|DTNA_ENST00000283365.9_Start_Codon_SNP_p.M1I|DTNA_ENST00000399121.5_Start_Codon_SNP_p.M1I|DTNA_ENST00000444659.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000315456.6_Start_Codon_SNP_p.M1I|DTNA_ENST00000598774.1_Start_Codon_SNP_p.M1I|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000598142.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000597599.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000595022.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000596745.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000269191.6_Start_Codon_SNP_p.M1I|DTNA_ENST00000348997.5_Start_Codon_SNP_p.M1I|DTNA_ENST00000598334.1_Start_Codon_SNP_p.M1I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	1	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCATAGAATGATTGAAGATA	0.378																																							uc010dmn.1		NA																	0					0						c.(1-3)ATG>ATC		dystrobrevin alpha isoform 1							111.0	100.0	104.0					18																	32335943		2203	4300	6503	SO:0001582	initiator_codon_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32335943G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.3G>C	18.37:g.32335943G>C	ENSP00000382064:p.Met1Ile					DTNA_uc002kxu.2_Missense_Mutation_p.M1I|DTNA_uc010xbx.1_Missense_Mutation_p.M1I|DTNA_uc002kxv.3_Missense_Mutation_p.M1I|DTNA_uc002kxw.2_Missense_Mutation_p.M1I|DTNA_uc002kxx.2_Missense_Mutation_p.M1I|DTNA_uc010dmj.2_Missense_Mutation_p.M1I|DTNA_uc002kxz.2_Missense_Mutation_p.M1I|DTNA_uc002kxy.2_Missense_Mutation_p.M1I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M1I|DTNA_uc002kyb.3_Missense_Mutation_p.M1I|DTNA_uc010dmm.2_Missense_Mutation_p.M1I	p.M1I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			1	4	+			1			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.3G>C	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758562	0.89843	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.19938	2.24;2.16;2.11;2.16;2.24;2.11;2.15;2.11	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	.	.	.	0.80722	D	1	P;D;D;P;P;D;P;P;D;P;P;D	0.61080	0.525;0.958;0.975;0.896;0.86;0.975;0.781;0.781;0.98;0.929;0.656;0.989	B;D;D;P;P;D;P;P;D;P;P;D	0.75484	0.38;0.943;0.974;0.459;0.661;0.974;0.459;0.459;0.968;0.729;0.584;0.986	T	0.50074	-0.8870	9	0.87932	D	0	-19.1472	18.3185	0.90229	0.0:0.0:1.0:0.0	.	1;1;1;1;1;1;1;12;1;1;1;1	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	I	1	ENSP00000283365:M1I;ENSP00000322519:M1I;ENSP00000269190:M1I;ENSP00000336682:M1I;ENSP00000382072:M1I;ENSP00000405819:M1I;ENSP00000269191:M1I;ENSP00000382064:M1I	ENSP00000269190:M1I	M	+	3	0	DTNA	30589941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.797000	0.91882	2.779000	0.95612	0.655000	0.94253	ATG		0.378	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	Missense_Mutation	16	34	0	0	0	0.007413	0	16	34				
C18orf25	147339	broad.mit.edu	37	18	43796201	43796201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:43796201C>G	ENST00000282059.6	+	2	729	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	C18orf25_ENST00000321319.6_Missense_Mutation_p.Q119E	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	119										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGAACCCTCTCAGGCAGAAAC	0.522																																							uc002lbw.2		NA																	0				central_nervous_system(2)	2						c.(355-357)CAG>GAG		ARKadia-like 1 isoform a							93.0	95.0	94.0					18																	43796201		1908	4131	6039	SO:0001583	missense	147339							g.chr18:43796201C>G	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.355C>G	18.37:g.43796201C>G	ENSP00000282059:p.Gln119Glu					C18orf25_uc002lbx.2_Missense_Mutation_p.Q119E	p.Q119E	NM_145055	NP_659492	Q96B23	CR025_HUMAN			2	734	+			119					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.355C>G	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047657	0.36085	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	5.95	0.96441	.	0.244444	0.39475	N	0.001341	T	0.47135	0.1429	N	0.19112	0.55	0.46701	D	0.999169	B;P	0.36837	0.091;0.571	B;B	0.36464	0.032;0.225	T	0.35699	-0.9778	9	0.28530	T	0.3	-9.9778	20.3967	0.98985	0.0:1.0:0.0:0.0	.	119;119	Q96B23-2;Q96B23	.;CR025_HUMAN	E	119	.	ENSP00000282059:Q119E	Q	+	1	0	C18orf25	42050199	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	3.534000	0.53568	2.829000	0.97493	0.655000	0.94253	CAG		0.522	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		35	59	0	0	0	0.004878	0	35	59				
C18orf25	147339	broad.mit.edu	37	18	43820131	43820131	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:43820131A>G	ENST00000282059.6	+	3	1250	c.876A>G	c.(874-876)ctA>ctG	p.L292L	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	292										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GCGGGCTTCTAGAGGAGCTGA	0.522																																							uc002lbw.2		NA																	0				central_nervous_system(2)	2						c.(874-876)CTA>CTG		ARKadia-like 1 isoform a							41.0	42.0	42.0					18																	43820131		1956	4157	6113	SO:0001819	synonymous_variant	147339							g.chr18:43820131A>G	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.876A>G	18.37:g.43820131A>G						C18orf25_uc002lbx.2_Intron	p.L292L	NM_145055	NP_659492	Q96B23	CR025_HUMAN			3	1255	+			292					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.876A>G	CCDS42430.1																																																																																				0.522	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		18	20	0	0	0	0.006122	0	18	20				
CFAP53	220136	broad.mit.edu	37	18	47753781	47753781	+	Silent	SNP	G	G	A	rs370574673		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:47753781G>A	ENST00000398545.4	-	8	1632	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GGCATGCCTTGCGCATGGGAT	0.443																																							uc002lee.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1513-1515)CGC>CGT		coiled-coil domain containing 11							167.0	171.0	170.0					18																	47753781		2031	4170	6201	SO:0001819	synonymous_variant	220136							g.chr18:47753781G>A																												ENST00000398545.4:c.1515C>T	18.37:g.47753781G>A							p.R505R	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1606	-			505						Silent	SNP	ENST00000398545.4	37	c.1515C>T	CCDS11940.2																																																																																				0.443	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			12	38	0	0	0	0.000978	0	12	38				
DCC	1630	broad.mit.edu	37	18	50976902	50976902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:50976902G>T	ENST00000442544.2	+	23	3878	c.3262G>T	c.(3262-3264)Ggc>Tgc	p.G1088C	DCC_ENST00000581580.1_Missense_Mutation_p.G723C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1088					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCCCCGCATGGCAGTGTCAC	0.498																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3262-3264)GGC>TGC		netrin receptor DCC precursor							114.0	95.0	101.0					18																	50976902		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50976902G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3262G>T	18.37:g.50976902G>T	ENSP00000389140:p.Gly1088Cys					DCC_uc010dpf.1_Missense_Mutation_p.G723C	p.G1088C	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3849	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1088			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3262G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	7.850	0.723861	0.15439	.	.	ENSG00000187323	ENST00000442544	T	0.53857	0.6	5.67	5.67	0.87782	.	0.065999	0.64402	D	0.000015	T	0.70020	0.3176	L	0.59436	1.845	0.49687	D	0.999813	D	0.89917	1.0	D	0.91635	0.999	T	0.66559	-0.5893	10	0.38643	T	0.18	-9.4362	18.5478	0.91053	0.0:0.0:1.0:0.0	.	1088	P43146	DCC_HUMAN	C	1088	ENSP00000389140:G1088C	ENSP00000389140:G1088C	G	+	1	0	DCC	49230900	1.000000	0.71417	0.976000	0.42696	0.083000	0.17756	7.383000	0.79741	2.684000	0.91462	0.650000	0.86243	GGC		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		19	35	1	0	1.56452e-12	0.007413	2.2493e-12	19	35				
TCF4	6925	broad.mit.edu	37	18	52896251	52896251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:52896251C>T	ENST00000356073.4	-	18	2305	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	TCF4_ENST00000566279.1_Missense_Mutation_p.R509Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R541Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R405Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R545Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R523Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R435Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R562Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R435Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R498Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R569Q|TCF4_ENST00000354452.3_Missense_Mutation_p.R569Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R545Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R494Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R671Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R405Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R575Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R409Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R435Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R565Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R540Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R505Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	565	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> W (in PTHS). {ECO:0000269|PubMed:22045651}.		DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCATCCTCCGCTCCTTCTC	0.552																																							uc002lfz.2		NA																	0				ovary(1)|lung(1)	2						c.(1693-1695)CGG>CAG		transcription factor 4 isoform b							193.0	168.0	177.0					18																	52896251		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896251C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1694G>A	18.37:g.52896251C>T	ENSP00000348374:p.Arg565Gln					TCF4_uc002lfw.3_Missense_Mutation_p.R409Q|TCF4_uc010xdu.1_Missense_Mutation_p.R435Q|TCF4_uc010xdv.1_Missense_Mutation_p.R435Q|TCF4_uc002lfx.2_Missense_Mutation_p.R498Q|TCF4_uc010xdw.1_Missense_Mutation_p.R435Q|TCF4_uc002lfy.2_Missense_Mutation_p.R523Q|TCF4_uc010xdx.1_Missense_Mutation_p.R541Q|TCF4_uc010dph.1_Missense_Mutation_p.R569Q|TCF4_uc010xdy.1_Missense_Mutation_p.R545Q|TCF4_uc002lga.2_Missense_Mutation_p.R671Q|TCF4_uc002lgb.1_Missense_Mutation_p.R405Q|TCF4_uc010dpi.2_Missense_Mutation_p.R575Q|TCF4_uc002lfv.2_Missense_Mutation_p.R348Q	p.R565Q	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2306	-			565			Basic motif.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1694G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	36	5.939604	0.97128	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77	5.88	5.88	0.94601	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.987;0.987;0.992;0.979;0.996;0.997;0.964;0.987	D	0.99874	1.1101	10	0.87932	D	0	-4.2769	19.0127	0.92881	0.0:1.0:0.0:0.0	.	545;569;405;671;565;523;498;409;562	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	Q	569;409;565;523;541;545;498;435;671	ENSP00000346440:R569Q;ENSP00000409447:R409Q;ENSP00000348374:R565Q;ENSP00000439656:R523Q;ENSP00000445202:R541Q;ENSP00000440731:R545Q;ENSP00000441562:R498Q;ENSP00000439827:R435Q;ENSP00000381382:R671Q	ENSP00000346440:R569Q	R	-	2	0	TCF4	51047249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.815000	0.86186	2.793000	0.96121	0.558000	0.71614	CGG		0.552	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		34	84	0	0	0	0.003214	0	34	84				
ST8SIA3	51046	broad.mit.edu	37	18	55024672	55024672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:55024672G>T	ENST00000324000.3	+	3	2865	c.831G>T	c.(829-831)tgG>tgT	p.W277C		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	277					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTGGCTTGGCCGGGAAATA	0.403																																							uc002lgn.2		NA																	0				breast(1)|skin(1)	2						c.(829-831)TGG>TGT		ST8 alpha-N-acetyl-neuraminide							64.0	70.0	68.0					18																	55024672		1993	3762	5755	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024672G>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.831G>T	18.37:g.55024672G>T	ENSP00000320431:p.Trp277Cys						p.W277C	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	1188	+			277			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.831G>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601126	0.66332	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29397	1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.62129	-0.6919	10	0.45353	T	0.12	-18.7041	19.7585	0.96304	0.0:0.0:1.0:0.0	.	277	O43173	SIA8C_HUMAN	C	384;277	ENSP00000320431:W277C	ENSP00000320431:W277C	W	+	3	0	ST8SIA3	53175670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.773000	0.95371	0.655000	0.94253	TGG		0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		31	76	1	0	2.47316e-13	0.003271	3.65399e-13	31	76				
ALPK2	115701	broad.mit.edu	37	18	56204009	56204009	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:56204009A>C	ENST00000361673.3	-	5	3623	c.3410T>G	c.(3409-3411)gTc>gGc	p.V1137G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1137						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCTGCTGGACCCCCTGCTT	0.483																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3409-3411)GTC>GGC		heart alpha-kinase							131.0	141.0	137.0					18																	56204009		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204009A>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3410T>G	18.37:g.56204009A>C	ENSP00000354991:p.Val1137Gly					ALPK2_uc002lhk.1_Missense_Mutation_p.V468G	p.V1137G	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3624	-			1137					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3410T>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	9.301	1.053129	0.19907	.	.	ENSG00000198796	ENST00000361673	T	0.50001	0.76	4.89	-3.62	0.04543	.	6.500190	0.00166	N	0.000000	T	0.28896	0.0717	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09773	-1.0659	10	0.52906	T	0.07	9.9773	1.1491	0.01782	0.2937:0.2896:0.2756:0.141	.	1132;1137	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	G	1137	ENSP00000354991:V1137G	ENSP00000354991:V1137G	V	-	2	0	ALPK2	54354989	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.660000	0.05317	-0.886000	0.03966	-0.408000	0.06270	GTC		0.483	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		46	92	0	0	0	0.003214	0	46	92				
ALPK2	115701	broad.mit.edu	37	18	56204016	56204016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:56204016G>T	ENST00000361673.3	-	5	3616	c.3403C>A	c.(3403-3405)Cag>Aag	p.Q1135K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1135						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGACCCCCTGCTTTGTTTCA	0.478																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3403-3405)CAG>AAG		heart alpha-kinase							136.0	148.0	144.0					18																	56204016		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204016G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3403C>A	18.37:g.56204016G>T	ENSP00000354991:p.Gln1135Lys					ALPK2_uc002lhk.1_Missense_Mutation_p.Q466K	p.Q1135K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3617	-			1135					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3403C>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788670	0.31685	.	.	ENSG00000198796	ENST00000361673	T	0.44881	0.91	5.63	-1.17	0.09648	.	3.642030	0.00357	N	0.000028	T	0.33702	0.0872	L	0.52573	1.65	0.09310	N	1	P;B	0.35844	0.524;0.142	B;B	0.33846	0.171;0.03	T	0.14254	-1.0479	10	0.48119	T	0.1	2.3871	0.9594	0.01392	0.1732:0.272:0.2769:0.2779	.	1130;1135	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	K	1135	ENSP00000354991:Q1135K	ENSP00000354991:Q1135K	Q	-	1	0	ALPK2	54354996	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.374000	0.20501	-0.218000	0.10018	-0.169000	0.13324	CAG		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		48	101	1	0	1.02067e-35	0.00361	1.9315e-35	48	101				
TNFRSF11A	8792	broad.mit.edu	37	18	60036668	60036668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:60036668G>T	ENST00000586569.1	+	9	1556	c.1518G>T	c.(1516-1518)agG>agT	p.R506S	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	506					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCAGCGAGGGCAGGTGCCG	0.627																																							uc002lin.2		NA																	0				breast(2)|lung(1)	3						c.(1516-1518)AGG>AGT		tumor necrosis factor receptor superfamily,							36.0	41.0	39.0					18																	60036668		1862	3650	5512	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60036668G>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1518G>T	18.37:g.60036668G>T	ENSP00000465500:p.Arg506Ser					TNFRSF11A_uc010dpv.2_Intron	p.R506S	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			9	1556	+		Colorectal(73;0.188)	506			Cytoplasmic (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1518G>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434767	0.62955	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.03	3.95	0.45737	.	1.385570	0.04363	N	0.357816	T	0.51770	0.1694	M	0.62723	1.935	0.27226	N	0.959543	D	0.59767	0.986	P	0.50970	0.655	T	0.38520	-0.9657	8	.	.	.	-19.6457	7.0538	0.25087	0.1997:0.0:0.8003:0.0	.	506	Q9Y6Q6	TNR11_HUMAN	S	506	.	.	R	+	3	2	TNFRSF11A	58187648	0.982000	0.34865	0.735000	0.30896	0.012000	0.07955	0.589000	0.23939	2.335000	0.79485	0.563000	0.77884	AGG		0.627	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			13	30	1	0	1.49906e-05	0.00245	1.72931e-05	13	30				
BCL2	596	broad.mit.edu	37	18	60985850	60985850	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:60985850T>A	ENST00000398117.1	-	1	1511	c.50A>T	c.(49-51)aAg>aTg	p.K17M	BCL2_ENST00000589955.1_Missense_Mutation_p.K17M|BCL2_ENST00000444484.1_Missense_Mutation_p.K17M|BCL2_ENST00000333681.4_Missense_Mutation_p.K17M	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	17					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATGGATGTACTTCATCACTAT	0.647			T	IGH@	"""NHL, CLL"""																																		uc002lit.1		NA		Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		0				central_nervous_system(1)	1						c.(49-51)AAG>ATG		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						72.0	80.0	78.0					18																	60985850		1984	4117	6101	SO:0001583	missense	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985850T>A	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.50A>T	18.37:g.60985850T>A	ENSP00000381185:p.Lys17Met					BCL2_uc002liu.1_Missense_Mutation_p.K17M|BCL2_uc002liv.1_Missense_Mutation_p.K17M	p.K17M	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	543	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	17			BH4.		C9JHD5|P10416|Q13842|Q16197	Missense_Mutation	SNP	ENST00000398117.1	37	c.50A>T	CCDS11981.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848077	0.71603	.	.	ENSG00000171791	ENST00000398117;ENST00000333681;ENST00000444484	T;T;T	0.04862	3.54;3.54;3.54	4.48	4.48	0.54585	Apoptosis regulator, Bcl-2 protein, BH4 (3);Apoptosis regulator, Bcl-2, BH4 motif, conserved site (1);	0.112194	0.64402	D	0.000017	T	0.14917	0.0360	L	0.39898	1.24	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	T	0.00795	-1.1563	10	0.62326	D	0.03	-17.4911	9.3516	0.38142	0.0:0.0851:0.0:0.9149	.	17;17	C9JHD5;P10415	.;BCL2_HUMAN	M	17	ENSP00000381185:K17M;ENSP00000329623:K17M;ENSP00000404214:K17M	ENSP00000329623:K17M	K	-	2	0	BCL2	59136830	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.678000	0.61641	1.879000	0.54435	0.482000	0.46254	AAG		0.647	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		26	58	0	0	0	0.00632	0	26	58				
CNDP2	55748	broad.mit.edu	37	18	72173175	72173175	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:72173175A>G	ENST00000324262.4	+	4	612	c.296A>G	c.(295-297)cAc>cGc	p.H99R	CNDP2_ENST00000579847.1_Missense_Mutation_p.H99R|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	99					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATTTACGGGCACCTGGATGTG	0.662																																							uc002llm.1		NA																	0				ovary(2)|skin(1)	3						c.(295-297)CAC>CGC		CNDP dipeptidase 2							59.0	58.0	58.0					18																	72173175		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72173175A>G	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.296A>G	18.37:g.72173175A>G	ENSP00000325548:p.His99Arg					CNDP2_uc002lln.1_Intron|CNDP2_uc002llo.2_Missense_Mutation_p.H99R|CNDP2_uc002llp.1_5'Flank	p.H99R	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	4	458	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	99				Manganese 2 (By similarity).	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.296A>G	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518259	0.27211	.	.	ENSG00000133313	ENST00000324262	T	0.54279	0.58	5.39	4.23	0.50019	.	0.050501	0.85682	D	0.000000	D	0.83622	0.5294	H	0.99815	4.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	D	0.87757	0.2596	10	0.87932	D	0	-7.1181	10.8247	0.46625	0.9254:0.0:0.0746:0.0	.	99;99	B4DV28;Q96KP4	.;CNDP2_HUMAN	R	99	ENSP00000325548:H99R	ENSP00000325548:H99R	H	+	2	0	CNDP2	70324155	1.000000	0.71417	0.851000	0.33527	0.400000	0.30750	9.233000	0.95337	0.892000	0.36259	-0.379000	0.06801	CAC		0.662	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		11	38	0	0	0	0.001368	0	11	38				
ZNF407	55628	broad.mit.edu	37	18	72344865	72344865	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:72344865G>T	ENST00000299687.5	+	1	1890	c.1890G>T	c.(1888-1890)gtG>gtT	p.V630V	ZNF407_ENST00000577538.1_Silent_p.V630V|ZNF407_ENST00000309902.6_Silent_p.V630V|ZNF407_ENST00000582337.1_Silent_p.V630V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGATGTGGAAGAACACA	0.358																																							uc002llw.2		NA																	0				ovary(2)	2						c.(1888-1890)GTG>GTT		zinc finger protein 407 isoform 1							91.0	91.0	91.0					18																	72344865		1863	4090	5953	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344865G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1890G>T	18.37:g.72344865G>T						ZNF407_uc010xfc.1_Silent_p.V630V|ZNF407_uc010dqu.1_Silent_p.V630V|ZNF407_uc002llu.2_Silent_p.V629V	p.V630V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1947	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	630			C2H2-type 6.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.1890G>T	CCDS45885.1																																																																																				0.358	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		22	61	1	0	2.89027e-11	0.002299	3.99594e-11	22	61				
THEG	51298	broad.mit.edu	37	19	375944	375944	+	Silent	SNP	G	G	T	rs376639063		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:375944G>T	ENST00000342640.4	-	1	69	c.27C>A	c.(25-27)ctC>ctA	p.L9L	THEG_ENST00000346878.2_Silent_p.L9L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	9					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTTCCCGAGTGACCTTC	0.687																																							uc002lol.2		NA																	0				ovary(1)	1						c.(25-27)CTC>CTA		Theg homolog isoform 1							34.0	33.0	33.0					19																	375944		2201	4298	6499	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375944G>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.27C>A	19.37:g.375944G>T						THEG_uc002lom.2_Silent_p.L9L	p.L9L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	66	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	9					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.27C>A	CCDS12025.1																																																																																				0.687	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			10	15	1	0	3.86212e-05	0.008291	4.37828e-05	10	15				
CDC34	997	broad.mit.edu	37	19	537015	537015	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:537015C>T	ENST00000215574.4	+	4	583	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	122					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGGACCATTCTCCTG	0.647																																							uc002lov.2		NA																	0					0						c.(364-366)ACC>ATC		ubiquitin-conjugating enzyme Cdc34							115.0	93.0	100.0					19																	537015		2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537015C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.365C>T	19.37:g.537015C>T	ENSP00000215574:p.Thr122Ile						p.T122I	NM_004359	NP_004350	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	564	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	122					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.365C>T	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029450	0.54790	.	.	ENSG00000099804	ENST00000215574	T	0.39406	1.08	5.05	4.01	0.46588	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.89353	3.025	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.73965	-0.3816	10	0.87932	D	0	-17.4462	12.335	0.55062	0.0:0.9181:0.0:0.0819	.	122	P49427	UB2R1_HUMAN	I	122	ENSP00000215574:T122I	ENSP00000215574:T122I	T	+	2	0	CDC34	488015	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	5.910000	0.69931	1.113000	0.41760	0.591000	0.81541	ACC		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		20	39	0	0	0	0.007413	0	20	39				
APC2	10297	broad.mit.edu	37	19	1453291	1453291	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:1453291G>T	ENST00000535453.1	+	2	1900	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	APC2_ENST00000238483.4_Missense_Mutation_p.V63L|APC2_ENST00000233607.2_Missense_Mutation_p.V63L			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0	Lipoprotein lipase cofactor.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCCGAGTGCTGGTGTC	0.687																																							uc002lsr.1		NA																	0				breast(3)|pancreas(1)	4						c.(187-189)GTG>TTG		adenomatosis polyposis coli 2							20.0	21.0	21.0					19																	1453291		2177	4276	6453	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453291G>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.187G>T	19.37:g.1453291G>T	ENSP00000442954:p.Val63Leu					APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.V63L|APC2_uc002lsu.1_Missense_Mutation_p.V63L	p.V63L	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	395	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	63					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.187G>T	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408090	0.42715	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.13420	2.59;2.59;2.59	4.86	2.73	0.32206	.	0.145674	0.46145	D	0.000311	T	0.06508	0.0167	N	0.14661	0.345	0.20307	N	0.999911	B;B	0.29432	0.244;0.158	B;B	0.21151	0.033;0.014	T	0.29610	-1.0006	10	0.39692	T	0.17	-31.0566	6.5433	0.22392	0.2172:0.0:0.7828:0.0	.	63;63	O95996-3;O95996	.;APC2_HUMAN	L	63	ENSP00000233607:V63L;ENSP00000238483:V63L;ENSP00000442954:V63L	ENSP00000233607:V63L	V	+	1	0	APC2	1404291	0.905000	0.30787	0.783000	0.31826	0.876000	0.50452	3.003000	0.49505	1.046000	0.40249	0.462000	0.41574	GTG		0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		2	0	1	0	0.00024832	0.009096	0.00027355	2	0				
ATP8B3	148229	broad.mit.edu	37	19	1795942	1795942	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:1795942C>G	ENST00000310127.6	-	18	2225	c.1987G>C	c.(1987-1989)Gac>Cac	p.D663H	ATP8B3_ENST00000539485.1_Missense_Mutation_p.D663H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D616H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	663					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACCGTGTCGGCGCCCTTG	0.627											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002ltw.2		NA																	0					0						c.(1987-1989)GAC>CAC		ATPase, class I, type 8B, member 3							76.0	82.0	80.0					19																	1795942		1993	4161	6154	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1795942C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1987G>C	19.37:g.1795942C>G	ENSP00000311336:p.Asp663His		OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	ATP8B3_uc002ltv.2_Missense_Mutation_p.D616H|ATP8B3_uc002ltx.2_RNA	p.D663H	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2221	-		Hepatocellular(1079;0.137)	663			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1987G>C	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187333	0.78789	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.70045	-0.45;-0.45;-0.45	4.81	4.81	0.61882	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	H	0.97874	4.095	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93192	0.6584	10	0.87932	D	0	.	16.9213	0.86165	0.0:1.0:0.0:0.0	.	663;616	O60423;Q7Z485	AT8B3_HUMAN;.	H	663;663;616	ENSP00000311336:D663H;ENSP00000443574:D663H;ENSP00000437115:D616H	ENSP00000311336:D663H	D	-	1	0	ATP8B3	1746942	1.000000	0.71417	0.766000	0.31476	0.497000	0.33675	4.789000	0.62446	2.240000	0.73641	0.555000	0.69702	GAC		0.627	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		23	14	0	0	0	0.004656	0	23	14				
VAV1	7409	broad.mit.edu	37	19	6773018	6773018	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:6773018C>A	ENST00000602142.1	+	1	282	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	VAV1_ENST00000539284.1_Missense_Mutation_p.S2Y|VAV1_ENST00000304076.2_Missense_Mutation_p.S67Y|VAV1_ENST00000596764.1_Missense_Mutation_p.S67Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	67	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCCAGATGTCCCAGGTGAGC	0.667																																							uc002mfu.1		NA																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(199-201)TCC>TAC		vav 1 guanine nucleotide exchange factor							94.0	74.0	81.0					19																	6773018		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6773018C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.200C>A	19.37:g.6773018C>A	ENSP00000472929:p.Ser67Tyr					VAV1_uc010xjh.1_Missense_Mutation_p.S67Y|VAV1_uc010dva.1_Missense_Mutation_p.S67Y	p.S67Y	NM_005428	NP_005419	P15498	VAV_HUMAN			1	297	+			67			Leu-rich.|CH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.200C>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447821	0.84101	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.62232	0.04;0.04	4.33	4.33	0.51752	Calponin homology domain (5);	0.000000	0.64402	U	0.000008	T	0.81819	0.4903	M	0.91920	3.255	0.80722	D	1	P;D;D	0.64830	0.897;0.99;0.994	P;P;D	0.68192	0.79;0.85;0.956	D	0.85843	0.1399	10	0.56958	D	0.05	.	14.3318	0.66561	0.0:1.0:0.0:0.0	.	2;67;67	F5H5P4;B2R8B5;P15498	.;.;VAV_HUMAN	Y	67;2	ENSP00000302269:S67Y;ENSP00000443242:S2Y	ENSP00000302269:S67Y	S	+	2	0	VAV1	6724018	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.355000	0.66046	1.957000	0.56846	0.313000	0.20887	TCC		0.667	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			33	23	1	0	1.69901e-12	0.005524	2.44021e-12	33	23				
MUC16	94025	broad.mit.edu	37	19	9059308	9059308	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:9059308C>A	ENST00000397910.4	-	3	28341	c.28138G>T	c.(28138-28140)Ggt>Tgt	p.G9380C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9382	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGGTACCCTGCGAGGTA	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28138-28140)GGT>TGT		mucin 16							140.0	140.0	140.0					19																	9059308		1987	4151	6138	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059308C>A	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.28138G>T	19.37:g.9059308C>A	ENSP00000381008:p.Gly9380Cys						p.G9380C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28342	-			9382			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28138G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.403	0.074451	0.08485	.	.	ENSG00000181143	ENST00000397910	T	0.25085	1.82	1.94	1.94	0.25998	.	.	.	.	.	T	0.34774	0.0909	L	0.32530	0.975	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.44513	-0.9323	8	0.87932	D	0	.	7.3977	0.26946	0.0:1.0:0.0:0.0	.	9380	B5ME49	.	C	9380	ENSP00000381008:G9380C	ENSP00000381008:G9380C	G	-	1	0	MUC16	8920308	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.497000	0.22514	1.410000	0.46936	0.306000	0.20318	GGT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	24	1	0	6.3237e-29	0.00361	1.17208e-28	54	24				
MUC16	94025	broad.mit.edu	37	19	9082425	9082425	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:9082425G>T	ENST00000397910.4	-	1	9593	c.9390C>A	c.(9388-9390)ccC>ccA	p.P3130P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3131	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						TGGGTTCTGTGGGAGAAGAGA	0.488																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9388-9390)CCC>CCA		mucin 16							207.0	215.0	212.0					19																	9082425		1950	4143	6093	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082425G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9390C>A	19.37:g.9082425G>T							p.P3130P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9594	-			3131			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9390C>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	57	1	0	3.01185e-09	0.003954	3.94467e-09	27	57				
RDH8	50700	broad.mit.edu	37	19	10132014	10132014	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:10132014G>A	ENST00000171214.1	+	5	869	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RDH8_ENST00000591589.1_Missense_Mutation_p.G227D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	207					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAGTTCCCAGGCACTGACCCT	0.612																																							uc002mmr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(619-621)GGC>GAC		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						93.0	88.0	90.0					19																	10132014		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132014G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.620G>A	19.37:g.10132014G>A	ENSP00000171214:p.Gly207Asp						p.G207D	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		5	869	+			207					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	G	12.04	1.818444	0.32145	.	.	ENSG00000080511	ENST00000171214	D	0.92805	-3.11	5.17	1.79	0.24919	NAD(P)-binding domain (1);	0.219314	0.47093	N	0.000253	D	0.83580	0.5285	L	0.31926	0.97	0.42787	D	0.993885	B	0.10296	0.003	B	0.14023	0.01	T	0.69386	-0.5159	10	0.11485	T	0.65	.	7.586	0.27993	0.3048:0.0:0.6952:0.0	.	207	Q9NYR8	RDH8_HUMAN	D	207	ENSP00000171214:G207D	ENSP00000171214:G207D	G	+	2	0	RDH8	9993014	0.790000	0.28787	0.684000	0.30055	0.935000	0.57460	1.677000	0.37576	0.158000	0.19367	0.462000	0.41574	GGC		0.612	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				57	23	0	0	0	0.00361	0	57	23				
S1PR5	53637	broad.mit.edu	37	19	10625538	10625538	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:10625538G>A	ENST00000439028.3	-	2	275	c.150C>T	c.(148-150)atC>atT	p.I50I	S1PR5_ENST00000333430.4_Silent_p.I50I	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	50					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	TCTCTAGCACGATGAAGGCGC	0.662																																							uc002mot.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(148-150)ATC>ATT		endothelial differentiation, sphingolipid							36.0	29.0	32.0					19																	10625538		2196	4296	6492	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625538G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.150C>T	19.37:g.10625538G>A						S1PR5_uc002mou.1_Silent_p.I50I	p.I50I	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	207	-			50			Helical; Name=1; (By similarity).		Q6NW11	Silent	SNP	ENST00000439028.3	37	c.150C>T	CCDS12240.1																																																																																				0.662	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		11	6	0	0	0	0.008291	0	11	6				
DOCK6	57572	broad.mit.edu	37	19	11363464	11363464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11363464C>A	ENST00000294618.7	-	3	314	c.303G>T	c.(301-303)aaG>aaT	p.K101N		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	101					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCACTCATCCTTGGGGATCC	0.642																																							uc002mqs.3		NA																	0				ovary(2)|skin(1)	3						c.(301-303)AAG>AAT		dedicator of cytokinesis 6							23.0	26.0	25.0					19																	11363464		1971	4149	6120	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11363464C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.303G>T	19.37:g.11363464C>A	ENSP00000294618:p.Lys101Asn						p.K101N	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			3	344	-			101					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.303G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	9.145	1.014855	0.19355	.	.	ENSG00000130158	ENST00000294618	T	0.47528	0.84	4.35	2.16	0.27623	.	0.411418	0.22917	N	0.054079	T	0.30885	0.0779	N	0.19112	0.55	0.80722	D	1	B	0.14805	0.011	B	0.25759	0.063	T	0.08638	-1.0712	10	0.41790	T	0.15	-13.3983	8.3817	0.32474	0.0:0.7281:0.0:0.2719	.	101	Q96HP0	DOCK6_HUMAN	N	101	ENSP00000294618:K101N	ENSP00000294618:K101N	K	-	3	2	DOCK6	11224464	0.930000	0.31532	0.866000	0.34008	0.415000	0.31203	-0.031000	0.12287	0.831000	0.34780	0.561000	0.74099	AAG		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		23	8	1	0	4.22769e-11	0.00632	5.82824e-11	23	8				
SWSAP1	126074	broad.mit.edu	37	19	11486600	11486600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11486600C>T	ENST00000312423.2	+	2	657	c.598C>T	c.(598-600)Cga>Tga	p.R200*	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	200					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										GGTGACTTTCCGATCAGATGG	0.642																																							uc002mrg.1		NA																	0					0						c.(598-600)CGA>TGA		hypothetical protein LOC126074							23.0	26.0	25.0					19																	11486600		2203	4300	6503	SO:0001587	stop_gained	126074							g.chr19:11486600C>T	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.598C>T	19.37:g.11486600C>T	ENSP00000310008:p.Arg200*						p.R200*	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			2	635	+			200					Q8NAM1	Nonsense_Mutation	SNP	ENST00000312423.2	37	c.598C>T	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048724	0.75846	.	.	ENSG00000173928	ENST00000312423	.	.	.	5.43	-3.78	0.04333	.	2.163850	0.02070	N	0.051509	.	.	.	.	.	.	0.46609	D	0.999128	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	5.2989	7.9779	0.30166	0.1042:0.17:0.6377:0.0881	.	.	.	.	X	200	.	ENSP00000310008:R200X	R	+	1	2	C19orf39	11347600	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-0.121000	0.10643	-0.307000	0.08804	0.655000	0.94253	CGA		0.642	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		5	13	0	0	0	0.000602	0	5	13				
ZNF653	115950	broad.mit.edu	37	19	11597835	11597835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11597835G>A	ENST00000293771.5	-	5	1446	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATAGATGATGGCTGACATGTC	0.677																																					Pancreas(83;980 1446 4542 6441 43352)	Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NA																	0					0						c.(1309-1311)GCC>GTC		zinc finger protein 653							46.0	49.0	48.0					19																	11597835		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11597835G>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1310C>T	19.37:g.11597835G>A	ENSP00000293771:p.Ala437Val						p.A437V	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			5	1363	-			437					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1310C>T	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028590	0.35797	.	.	ENSG00000161914	ENST00000293771	T	0.11821	2.74	4.36	4.36	0.52297	.	0.682932	0.14193	N	0.335192	T	0.08891	0.0220	N	0.14661	0.345	0.31783	N	0.63064	B	0.29432	0.244	B	0.29785	0.107	T	0.09185	-1.0686	10	0.12430	T	0.62	-26.8458	14.2263	0.65860	0.0:0.0:1.0:0.0	.	437	Q96CK0	ZN653_HUMAN	V	437	ENSP00000293771:A437V	ENSP00000293771:A437V	A	-	2	0	ZNF653	11458835	0.999000	0.42202	0.983000	0.44433	0.653000	0.38743	3.749000	0.55150	2.157000	0.67596	0.561000	0.74099	GCC		0.677	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		14	23	0	0	0	0.00245	0	14	23				
COLGALT1	79709	broad.mit.edu	37	19	17688833	17688833	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:17688833C>G	ENST00000252599.4	+	9	1321	c.1201C>G	c.(1201-1203)Cac>Gac	p.H401D		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	401					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GGACCCCTACCACGGCCGGCC	0.632																																							uc002nhc.1		NA																	0					0						c.(1201-1203)CAC>GAC		glycosyltransferase 25 domain containing 1							44.0	43.0	43.0					19																	17688833		2203	4300	6503	SO:0001583	missense	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17688833C>G	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1201C>G	19.37:g.17688833C>G	ENSP00000252599:p.His401Asp					GLT25D1_uc010eax.1_Missense_Mutation_p.H129D|GLT25D1_uc010eay.1_5'Flank	p.H401D	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			9	1213	+			401					Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1201C>G	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378240	0.61735	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.77620	-1.11	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.85777	2.775	0.80722	D	1	P;P	0.47191	0.866;0.891	P;P	0.52424	0.689;0.698	D	0.87106	0.2182	10	0.48119	T	0.1	-19.7728	15.8498	0.78921	0.0:1.0:0.0:0.0	.	129;401	E9PC06;Q8NBJ5	.;GT251_HUMAN	D	129;401	ENSP00000252599:H401D	ENSP00000252599:H401D	H	+	1	0	GLT25D1	17549833	0.985000	0.35326	1.000000	0.80357	0.556000	0.35491	2.061000	0.41403	2.347000	0.79759	0.313000	0.20887	CAC		0.632	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		18	16	0	0	0	0.010504	0	18	16				
ZNF99	7652	broad.mit.edu	37	19	22939922	22939922	+	IGR	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:22939922T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.K803K|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTCCACATTTGTAGGGCT	0.388																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2407-2409)AAA>AAG		zinc finger protein 99							81.0	96.0	91.0					19																	22939922		2138	4265	6403	SO:0001628	intergenic_variant	7652							g.chr19:22939922T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939922T>C							p.K803K	NM_001080409	NP_001073878					6	2409	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2409A>G	CCDS59369.1																																																																																				0.388	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	58	0	0	0	0.009096	0	4	58				
ZNF91	7644	broad.mit.edu	37	19	23545248	23545248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:23545248C>T	ENST00000300619.7	-	4	738	c.533G>A	c.(532-534)gGa>gAa	p.G178E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G146E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	178					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCATTTCTTTCCAGTATGTCT	0.318																																							uc002nre.2		NA																	0					0						c.(532-534)GGA>GAA		zinc finger protein 91							69.0	68.0	68.0					19																	23545248		2032	4222	6254	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545248C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.533G>A	19.37:g.23545248C>T	ENSP00000300619:p.Gly178Glu					ZNF91_uc010xrj.1_Missense_Mutation_p.G146E	p.G178E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	646	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	178					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.533G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	5.284	0.237775	0.10023	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.20069	2.1;2.1	0.792	-1.58	0.08479	.	.	.	.	.	T	0.32224	0.0822	L	0.57130	1.785	0.22710	N	0.998828	P;D	0.64830	0.949;0.994	B;D	0.65010	0.276;0.931	T	0.18618	-1.0331	9	0.30078	T	0.28	.	6.4066	0.21668	0.0:0.6012:0.3988:0.0	.	146;178	Q05481-2;Q05481	.;ZNF91_HUMAN	E	178;146	ENSP00000300619:G178E;ENSP00000380272:G146E	ENSP00000300619:G178E	G	-	2	0	ZNF91	23337088	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.432000	0.21461	-1.551000	0.01706	-1.565000	0.00878	GGA		0.318	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		14	7	0	0	0	0.004007	0	14	7				
ZNF675	171392	broad.mit.edu	37	19	23837472	23837472	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:23837472T>A	ENST00000359788.4	-	4	431	c.263A>T	c.(262-264)gAg>gTg	p.E88V	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	88					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGTTCTGCTCTGGCCAAAA	0.308																																							uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(262-264)GAG>GTG		zinc finger protein 675							32.0	34.0	33.0					19																	23837472		2198	4289	6487	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837472T>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.263A>T	19.37:g.23837472T>A	ENSP00000352836:p.Glu88Val						p.E88V	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	445	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	88					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.263A>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192874	0.21954	.	.	ENSG00000197372	ENST00000359788	T	0.08282	3.11	0.225	0.225	0.15325	.	.	.	.	.	T	0.09468	0.0233	L	0.60012	1.86	0.26066	N	0.981283	B	0.23854	0.092	B	0.27170	0.077	T	0.29397	-1.0013	8	0.48119	T	0.1	.	.	.	.	.	88	Q8TD23	ZN675_HUMAN	V	88	ENSP00000352836:E88V	ENSP00000352836:E88V	E	-	2	0	ZNF675	23629312	0.022000	0.18835	0.572000	0.28498	0.573000	0.36030	-0.098000	0.11024	0.257000	0.21650	0.254000	0.18369	GAG		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		10	23	0	0	0	0.008291	0	10	23				
ZNF536	9745	broad.mit.edu	37	19	30934697	30934697	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:30934697C>A	ENST00000355537.3	+	2	375	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	76					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)					GCGGCCAGCCCATGGGCAGTC	0.682																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(226-228)CCC>CCA		zinc finger protein 536							27.0	30.0	29.0					19																	30934697		2203	4299	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934697C>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.228C>A	19.37:g.30934697C>A						ZNF536_uc010edd.1_Silent_p.P76P	p.P76P	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	366	+	Esophageal squamous(110;0.0834)		76					A2RU18	Silent	SNP	ENST00000355537.3	37	c.228C>A	CCDS32984.1																																																																																				0.682	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		9	23	1	0	0.00448238	0.004482	0.0047387	9	23				
ZNF536	9745	broad.mit.edu	37	19	30936096	30936096	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:30936096C>G	ENST00000355537.3	+	2	1774	c.1627C>G	c.(1627-1629)Ccg>Gcg	p.P543A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	543					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)					TAAAGAGCATCCGCTGCAGCG	0.572																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1627-1629)CCG>GCG		zinc finger protein 536							71.0	77.0	75.0					19																	30936096		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936096C>G		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.1627C>G	19.37:g.30936096C>G	ENSP00000347730:p.Pro543Ala					ZNF536_uc010edd.1_Missense_Mutation_p.P543A	p.P543A	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1765	+	Esophageal squamous(110;0.0834)		543					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1627C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	2.207	-0.381622	0.04966	.	.	ENSG00000198597	ENST00000355537	T	0.39997	1.05	5.53	5.53	0.82687	.	0.497904	0.23836	N	0.044096	T	0.31949	0.0813	N	0.14661	0.345	0.36381	D	0.861929	B;B	0.15141	0.012;0.012	B;B	0.15870	0.014;0.014	T	0.21930	-1.0231	10	0.49607	T	0.09	-11.7659	19.4573	0.94900	0.0:1.0:0.0:0.0	.	543;543	A7E228;O15090	.;ZN536_HUMAN	A	543	ENSP00000347730:P543A	ENSP00000347730:P543A	P	+	1	0	ZNF536	35627936	1.000000	0.71417	0.962000	0.40283	0.458000	0.32498	7.124000	0.77185	2.582000	0.87167	0.655000	0.94253	CCG		0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	49	0	0	0	0.00333	0	26	49				
TSHZ3	57616	broad.mit.edu	37	19	31767730	31767730	+	Missense_Mutation	SNP	G	G	C	rs201926359		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:31767730G>C	ENST00000240587.4	-	2	3296	c.2969C>G	c.(2968-2970)aCg>aGg	p.T990R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	990					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATGTACGTGGAAGGAGT	0.483																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2968-2970)ACG>AGG		zinc finger protein 537																																				SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767730G>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2969C>G	19.37:g.31767730G>C	ENSP00000240587:p.Thr990Arg						p.T990R	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	3034	-	Esophageal squamous(110;0.226)		990			C2H2-type 4.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2969C>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237998	0.79800	.	.	ENSG00000121297	ENST00000240587	T	0.14766	2.48	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.048920	0.85682	D	0.000000	T	0.33411	0.0862	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00956	-1.1501	10	0.87932	D	0	-24.8423	20.1434	0.98067	0.0:0.0:1.0:0.0	.	990	Q63HK5	TSH3_HUMAN	R	990	ENSP00000240587:T990R	ENSP00000240587:T990R	T	-	2	0	TSHZ3	36459570	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	9.441000	0.97557	2.760000	0.94817	0.591000	0.81541	ACG		0.483	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		13	33	0	0	0	0.001368	0	13	33				
TSHZ3	57616	broad.mit.edu	37	19	31769005	31769005	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:31769005C>G	ENST00000240587.4	-	2	2021	c.1694G>C	c.(1693-1695)gGc>gCc	p.G565A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	565					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCCCGACGAGCCCAGGGACAA	0.587																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1693-1695)GGC>GCC		zinc finger protein 537							105.0	107.0	106.0					19																	31769005		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769005C>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1694G>C	19.37:g.31769005C>G	ENSP00000240587:p.Gly565Ala						p.G565A	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1759	-	Esophageal squamous(110;0.226)		565					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1694G>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	5.095	0.203157	0.09704	.	.	ENSG00000121297	ENST00000240587	T	0.50548	0.74	5.4	5.4	0.78164	.	0.050336	0.85682	D	0.000000	T	0.40791	0.1131	L	0.29908	0.895	0.80722	D	1	P	0.46784	0.884	B	0.43838	0.433	T	0.13229	-1.0517	10	0.12766	T	0.61	-37.9055	19.1896	0.93660	0.0:1.0:0.0:0.0	.	565	Q63HK5	TSH3_HUMAN	A	565	ENSP00000240587:G565A	ENSP00000240587:G565A	G	-	2	0	TSHZ3	36460845	1.000000	0.71417	0.985000	0.45067	0.080000	0.17528	7.461000	0.80834	2.519000	0.84933	0.655000	0.94253	GGC		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		35	57	0	0	0	0.003271	0	35	57				
SLC7A9	11136	broad.mit.edu	37	19	33353074	33353074	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:33353074C>A	ENST00000023064.4	-	6	845	c.654G>T	c.(652-654)gtG>gtT	p.V218V	SLC7A9_ENST00000590341.1_Silent_p.V218V|SLC7A9_ENST00000587772.1_Silent_p.V218V|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	218					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGATGGCTCCCACAGACAGCT	0.542																																					GBM(181;1335 2108 9644 44178 46689)	GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NA																	0				skin(1)	1						c.(652-654)GTG>GTT		solute carrier family 7, member 9	L-Cystine(DB00138)						94.0	91.0	92.0					19																	33353074		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33353074C>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.654G>T	19.37:g.33353074C>A						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.V218V|SLC7A9_uc002ntw.3_Intron	p.V218V	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			6	771	-	Esophageal squamous(110;0.137)		218			Helical; (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.654G>T	CCDS12425.1																																																																																				0.542	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			16	50	1	0	4.14922e-12	0.004007	5.89475e-12	16	50				
ZNF565	147929	broad.mit.edu	37	19	36673763	36673763	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:36673763C>A	ENST00000355114.5	-	5	1951	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	ZNF565_ENST00000304116.5_Missense_Mutation_p.G369W|ZNF565_ENST00000392173.2_Missense_Mutation_p.G369W			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	409					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAGGCCTTCCCACATTCCTTA	0.488																																							uc002odn.2		NA																	0				ovary(1)|skin(1)	2						c.(1105-1107)GGG>TGG		zinc finger protein 565							131.0	109.0	116.0					19																	36673763		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673763C>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1225G>T	19.37:g.36673763C>A	ENSP00000347234:p.Gly409Trp					ZNF565_uc010ees.2_Missense_Mutation_p.G304W|ZNF565_uc002odo.2_Missense_Mutation_p.G369W	p.G369W	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1213	-	Esophageal squamous(110;0.162)		369			C2H2-type 8.		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1105G>T		.	.	.	.	.	.	.	.	.	.	c	13.44	2.237750	0.39598	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.08008	3.14;3.14;3.14	4.7	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001020	T	0.32164	0.0820	M	0.92268	3.29	0.36530	D	0.87067	D	0.67145	0.996	P	0.62560	0.904	T	0.53899	-0.8373	10	0.87932	D	0	.	11.34	0.49527	0.0:0.9091:0.0:0.0909	.	369	Q8N9K5	ZN565_HUMAN	W	369;369;409	ENSP00000376013:G369W;ENSP00000306869:G369W;ENSP00000347234:G409W	ENSP00000306869:G369W	G	-	1	0	ZNF565	41365603	1.000000	0.71417	0.995000	0.50966	0.021000	0.10359	4.523000	0.60545	1.308000	0.44962	0.650000	0.86243	GGG		0.488	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		20	48	1	0	5.26018e-13	0.001882	7.68508e-13	20	48				
ZNF607	84775	broad.mit.edu	37	19	38189824	38189824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:38189824C>A	ENST00000355202.4	-	5	1803	c.1208G>T	c.(1207-1209)aGg>aTg	p.R403M	ZNF607_ENST00000395835.3_Missense_Mutation_p.R402M|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	403					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTGAGCCTAAAGGACTT	0.423																																							uc002ohc.1		NA																	0					0						c.(1207-1209)AGG>ATG		zinc finger protein 607							92.0	93.0	93.0					19																	38189824		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189824C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1208G>T	19.37:g.38189824C>A	ENSP00000347338:p.Arg403Met					ZNF607_uc002ohb.1_Missense_Mutation_p.R402M	p.R403M	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1804	-			403			C2H2-type 10.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1208G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973381	0.18736	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07114	3.22;3.22	2.2	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.48935	1.535	0.09310	N	1	P;P	0.48694	0.898;0.914	P;P	0.49502	0.477;0.613	T	0.19063	-1.0317	9	0.49607	T	0.09	.	5.5291	0.16974	0.2089:0.3793:0.4118:0.0	.	403;402	Q96SK3;F5H141	ZN607_HUMAN;.	M	403;402	ENSP00000347338:R403M;ENSP00000438015:R402M	ENSP00000347338:R403M	R	-	2	0	ZNF607	42881664	0.000000	0.05858	0.174000	0.22961	0.548000	0.35241	-6.133000	0.00079	0.237000	0.21200	-0.304000	0.09214	AGG		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		26	59	1	0	8.24728e-16	0.004656	1.29832e-15	26	59				
RASGRP4	115727	broad.mit.edu	37	19	38910548	38910548	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:38910548C>T	ENST00000587738.1	-	6	685	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RASGRP4_ENST00000454404.2_Silent_p.L205L|RASGRP4_ENST00000433821.2_Silent_p.L205L|RASGRP4_ENST00000586305.1_Silent_p.L191L|RASGRP4_ENST00000587753.1_Silent_p.L205L|RASGRP4_ENST00000293062.9_Silent_p.L205L|RASGRP4_ENST00000426920.2_Silent_p.L205L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	205	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCTGAGCCAGCTCCCCCG	0.647																																							uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(613-615)CTG>CTA		RAS guanyl releasing protein 4 isoform a							31.0	33.0	32.0					19																	38910548		1961	4142	6103	SO:0001819	synonymous_variant	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38910548C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.615G>A	19.37:g.38910548C>T						RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Silent_p.L205L|RASGRP4_uc010xub.1_Silent_p.L205L|RASGRP4_uc010xuc.1_Silent_p.L205L|RASGRP4_uc010xud.1_Silent_p.L205L|RASGRP4_uc010xue.1_Silent_p.L205L|RASGRP4_uc010egb.2_Silent_p.L191L	p.L205L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	829	-	all_cancers(60;4.21e-06)		205			Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	c.615G>A	CCDS46068.1																																																																																				0.647	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		6	5	0	0	0	0.001168	0	6	5				
FBL	2091	broad.mit.edu	37	19	40331129	40331129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:40331129G>C	ENST00000221801.3	-	3	321	c.208C>G	c.(208-210)Cgg>Ggg	p.R70G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	70	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCACGACCCCGGTTGCCACCA	0.592																																							uc002omn.2		NA																	0				ovary(1)	1						c.(208-210)CGG>GGG		fibrillarin							196.0	178.0	184.0					19																	40331129		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331129G>C	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.208C>G	19.37:g.40331129G>C	ENSP00000221801:p.Arg70Gly					FBL_uc002omm.1_5'UTR|FBL_uc002omo.2_Missense_Mutation_p.R69G|FBL_uc010egr.2_Missense_Mutation_p.R70G	p.R70G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	322	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	70			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.208C>G	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490307	0.44249	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.79	3.73	0.42828	.	0.472963	0.15543	U	0.256835	T	0.36663	0.0975	N	0.19112	0.55	0.50039	D	0.999847	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.08146	-1.0736	9	0.11485	T	0.65	-13.633	8.0649	0.30654	0.0:0.1753:0.6434:0.1812	.	70;9;70	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	G	70	.	ENSP00000221801:R70G	R	-	1	2	FBL	45022969	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	4.270000	0.58896	0.968000	0.38212	0.511000	0.50034	CGG		0.592	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		70	157	0	0	0	0.00361	0	70	157				
FCGBP	8857	broad.mit.edu	37	19	40395889	40395889	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:40395889T>C	ENST00000221347.6	-	15	7515	c.7508A>G	c.(7507-7509)aAt>aGt	p.N2503S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2503	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			GACTCGCCCATTACCCCAGGC	0.622																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(7507-7509)AAT>AGT		Fc fragment of IgG binding protein precursor							119.0	104.0	110.0					19																	40395889		2166	3921	6087	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395889T>C	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.7508A>G	19.37:g.40395889T>C	ENSP00000221347:p.Asn2503Ser						p.N2503S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7516	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2503			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7508A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657310	0.29425	.	.	ENSG00000090920	ENST00000221347	T	0.58060	0.36	1.97	1.97	0.26223	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.37237	0.0996	N	0.11000	0.08	0.09310	N	1	P	0.41102	0.738	P	0.48795	0.59	T	0.19484	-1.0304	9	0.09590	T	0.72	.	9.234	0.37455	0.0:0.0:0.0:1.0	.	2503	Q9Y6R7	FCGBP_HUMAN	S	2503	ENSP00000221347:N2503S	ENSP00000221347:N2503S	N	-	2	0	FCGBP	45087729	0.000000	0.05858	0.282000	0.24776	0.703000	0.40648	-0.005000	0.12855	1.158000	0.42547	0.248000	0.18094	AAT		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		31	25	0	0	0	0.00361	0	31	25				
FCGBP	8857	broad.mit.edu	37	19	40433917	40433917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:40433917C>A	ENST00000221347.6	-	2	359	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	118	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				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)			AGTGCCTGCACAGAGATGGCA	0.577																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(352-354)GTG>TTG		Fc fragment of IgG binding protein precursor							108.0	84.0	92.0					19																	40433917		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433917C>A	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.352G>T	19.37:g.40433917C>A	ENSP00000221347:p.Val118Leu						p.V118L	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	360	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		118			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.352G>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102354	0.37145	.	.	ENSG00000090920	ENST00000221347	T	0.32023	1.47	4.71	4.71	0.59529	.	0.098018	0.38436	N	0.001698	T	0.41834	0.1176	L	0.35644	1.08	0.30811	N	0.7388	D	0.67145	0.996	P	0.58210	0.835	T	0.41288	-0.9517	10	0.62326	D	0.03	.	17.2878	0.87146	0.0:1.0:0.0:0.0	.	118	Q9Y6R7	FCGBP_HUMAN	L	118	ENSP00000221347:V118L	ENSP00000221347:V118L	V	-	1	0	FCGBP	45125757	0.611000	0.26992	0.999000	0.59377	0.114000	0.19823	2.355000	0.44107	2.552000	0.86080	0.655000	0.94253	GTG		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	25	1	0	1.61879e-10	0.001368	2.19183e-10	12	25				
CYP2B6	1555	broad.mit.edu	37	19	41515938	41515938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:41515938C>A	ENST00000324071.4	+	6	869	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	288					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCACCAGAACCTCAACCTCAA	0.552																																							uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.(862-864)CTC>ATC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						172.0	122.0	139.0					19																	41515938		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515938C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.862C>A	19.37:g.41515938C>A	ENSP00000324648:p.Leu288Ile					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.L288I	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	869	+			288					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.862C>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	16.96	3.267143	0.59540	.	.	ENSG00000197408	ENST00000324071	T	0.68331	-0.32	4.58	4.58	0.56647	.	0.271740	0.31335	N	0.007838	T	0.75953	0.3920	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.76058	-0.3098	10	0.51188	T	0.08	.	8.5509	0.33451	0.0:0.8968:0.0:0.1032	.	288	P20813	CP2B6_HUMAN	I	288	ENSP00000324648:L288I	ENSP00000324648:L288I	L	+	1	0	CYP2B6	46207778	0.960000	0.32886	0.878000	0.34440	0.025000	0.11179	0.003000	0.13083	2.394000	0.81467	0.550000	0.68814	CTC		0.552	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		14	40	1	0	3.45872e-05	0.004007	3.95204e-05	14	40				
HNRNPUL1	11100	broad.mit.edu	37	19	41774165	41774165	+	Nonsense_Mutation	SNP	C	C	A	rs374312400		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:41774165C>A	ENST00000392006.3	+	2	506	c.333C>A	c.(331-333)taC>taA	p.Y111*	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Y22*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Y68*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Y111*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Y11*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	111					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y111Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCAATTCTACGATACCCAAG	0.453																																							uc002oqb.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(331-333)TAC>TAA		heterogeneous nuclear ribonucleoprotein U-like 1							119.0	96.0	104.0					19																	41774165		2203	4300	6503	SO:0001587	stop_gained	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41774165C>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.333C>A	19.37:g.41774165C>A	ENSP00000375863:p.Tyr111*					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc002oqa.3_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc010ehm.2_Nonsense_Mutation_p.Y111*|HNRNPUL1_uc002oqc.3_Nonsense_Mutation_p.Y68*|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc010ehn.2_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc010eho.2_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc010xvy.1_Nonsense_Mutation_p.Y11*|HNRNPUL1_uc010ehl.1_Nonsense_Mutation_p.Y11*	p.Y111*	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			2	622	+			111					B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Nonsense_Mutation	SNP	ENST00000392006.3	37	c.333C>A	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.904179	0.97087	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	.	.	.	5.11	0.321	0.15883	.	0.509248	0.21573	N	0.072364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7249	8.067	0.30667	0.0:0.5578:0.0:0.4422	.	.	.	.	X	11;111;68;22	.	ENSP00000263367:Y22X	Y	+	3	2	HNRNPUL1	46466005	0.761000	0.28439	0.996000	0.52242	0.991000	0.79684	-0.840000	0.04363	-0.034000	0.13713	-0.302000	0.09304	TAC		0.453	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		13	29	1	0	0.00244969	0.00245	0.00261664	13	29				
GRIK5	2901	broad.mit.edu	37	19	42510043	42510043	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:42510043T>G	ENST00000262895.3	-	16	2094	c.2095A>C	c.(2095-2097)Agc>Cgc	p.S699R	GRIK5_ENST00000301218.4_Missense_Mutation_p.S699R|GRIK5_ENST00000593562.1_Missense_Mutation_p.S699R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	699					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ACGAACACGCTGGGCTGCTTC	0.577																																							uc002osj.1		NA																	0					0						c.(2095-2097)AGC>CGC		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						123.0	89.0	101.0					19																	42510043		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510043T>G		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2095A>C	19.37:g.42510043T>G	ENSP00000262895:p.Ser699Arg					GRIK5_uc002osi.1_Missense_Mutation_p.S271R	p.S699R	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			16	2130	-		Prostate(69;0.059)	699			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.2095A>C	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.251413|4.251413	0.80135|0.80135	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.11385	.|2.78;2.78	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Ionotropic glutamate receptor (2);	.|0.057226	.|0.64402	.|D	.|0.000003	T|T	0.32556|0.32556	0.0833|0.0833	M|M	0.74389|0.74389	2.26|2.26	0.52501|0.52501	D|D	0.999957|0.999957	.|D	.|0.71674	.|0.998	.|D	.|0.76071	.|0.987	T|T	0.07462|0.07462	-1.0771|-1.0771	5|10	.|0.87932	.|D	.|0	.|.	13.5937|13.5937	0.61975|0.61975	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|699	.|Q16478	.|GRIK5_HUMAN	P|R	75|699	.|ENSP00000262895:S699R;ENSP00000301218:S699R	.|ENSP00000262895:S699R	Q|S	-|-	2|1	0|0	GRIK5|GRIK5	47201883|47201883	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	6.254000|6.254000	0.72460|0.72460	1.872000|1.872000	0.54250|0.54250	0.460000|0.460000	0.39030|0.39030	CAG|AGC		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	10	0	0	0	0.001984	0	6	10				
PSG2	5670	broad.mit.edu	37	19	43585324	43585324	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:43585324C>T	ENST00000406487.1	-	2	237	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	47	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCTTCCCCTCGGAAACTTTT	0.483																																							uc002ovi.2		NA																	0				ovary(1)|skin(1)	2						c.(139-141)GAG>AAG		SubName: Full=Putative uncharacterized protein PSG6;							153.0	152.0	152.0					19																	43585324		2203	4298	6501	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585324C>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.139G>A	19.37:g.43585324C>T	ENSP00000385706:p.Glu47Lys					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.E47K|PSG2_uc002ovq.3_Missense_Mutation_p.E47K|PSG2_uc010eiq.1_Missense_Mutation_p.E47K|PSG2_uc002ovs.3_Missense_Mutation_p.E47K|PSG2_uc002ovt.3_Missense_Mutation_p.E47K	p.E47K			Q00889	PSG6_HUMAN			2	232	-		Prostate(69;0.00899)	47			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.139G>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	7.866	0.727191	0.15439	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.69306	-0.39	0.569	-0.745	0.11098	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69441	0.3111	M	0.81614	2.55	0.09310	N	1	P;B	0.39964	0.697;0.303	P;B	0.46685	0.524;0.311	T	0.61623	-0.7025	8	0.56958	D	0.05	.	.	.	.	.	47;47	B5MCM8;P11465	.;PSG2_HUMAN	K	47	ENSP00000385706:E47K	ENSP00000332984:E47K	E	-	1	0	PSG2	48277164	0.001000	0.12720	0.004000	0.12327	0.094000	0.18550	0.122000	0.15687	-0.292000	0.08999	0.184000	0.17185	GAG		0.483	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		55	128	0	0	0	0.00361	0	55	128				
PSG4	5672	broad.mit.edu	37	19	43702187	43702187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:43702187C>T	ENST00000405312.3	-	3	908	c.671G>A	c.(670-672)aGt>aAt	p.S224N	PSG4_ENST00000244295.9_Missense_Mutation_p.S224N|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	224	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCGGCTGGCACTCACTGGGTT	0.517																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(670-672)AGT>AAT		pregnancy specific beta-1-glycoprotein 4 isoform							55.0	69.0	64.0					19																	43702187		2118	4264	6382	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702187C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.671G>A	19.37:g.43702187C>T	ENSP00000384770:p.Ser224Asn					PSG6_uc010xwk.1_Missense_Mutation_p.S63N|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.S224N	p.S224N	NM_002780	NP_002771	Q00888	PSG4_HUMAN			3	773	-		Prostate(69;0.00682)	224			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.671G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	8.907	0.957836	0.18507	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.12465	2.68;2.68;2.68	1.96	0.829	0.18847	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18045	0.0433	M	0.68952	2.095	0.09310	N	1	B;B;B	0.18310	0.027;0.02;0.014	B;B;B	0.35688	0.208;0.133;0.05	T	0.40421	-0.9564	9	0.56958	D	0.05	.	4.5443	0.12073	0.0:0.7859:0.0:0.2141	.	240;224;224	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	N	224;224;240	ENSP00000244295:S224N;ENSP00000384770:S224N;ENSP00000388134:S240N	ENSP00000244295:S224N	S	-	2	0	PSG4	48394027	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.147000	0.16202	0.172000	0.19760	0.416000	0.27883	AGT		0.517	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		67	136	0	0	0	0.00361	0	67	136				
IRGC	56269	broad.mit.edu	37	19	44223494	44223494	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44223494A>G	ENST00000244314.5	+	2	983	c.784A>G	c.(784-786)Atg>Gtg	p.M262V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	262						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GAAGAAGGCCATGCTTCAAGA	0.662																																					Colon(189;350 2037 11447 13433 38914)	Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(784-786)ATG>GTG		immunity-related GTPase family, cinema							44.0	41.0	42.0					19																	44223494		2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223494A>G	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.784A>G	19.37:g.44223494A>G	ENSP00000244314:p.Met262Val						p.M262V	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	931	+		Prostate(69;0.0435)	262					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.784A>G	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509766	0.27036	.	.	ENSG00000124449	ENST00000244314	T	0.19669	2.13	5.23	3.14	0.36123	.	0.152597	0.48286	D	0.000189	T	0.12135	0.0295	L	0.29908	0.895	0.29771	N	0.834808	B	0.15930	0.015	B	0.17979	0.02	T	0.11891	-1.0569	10	0.16896	T	0.51	.	5.9439	0.19207	0.7537:0.0:0.2463:0.0	.	262	Q6NXR0	IIGP5_HUMAN	V	262	ENSP00000244314:M262V	ENSP00000244314:M262V	M	+	1	0	IRGC	48915334	0.694000	0.27738	1.000000	0.80357	0.928000	0.56348	0.396000	0.20867	1.975000	0.57531	0.533000	0.62120	ATG		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		10	18	0	0	0	0.006214	0	10	18				
ZNF222	7673	broad.mit.edu	37	19	44536757	44536757	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44536757G>C	ENST00000187879.8	+	4	1092	c.930G>C	c.(928-930)caG>caC	p.Q310H	ZNF222_ENST00000391960.3_Missense_Mutation_p.Q350H|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATATGGGACAGAAACCATATA	0.393																																							uc002oyc.2		NA																	0				ovary(3)	3						c.(928-930)CAG>CAC		zinc finger protein 222 isoform 2							117.0	117.0	117.0					19																	44536757		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536757G>C	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.930G>C	19.37:g.44536757G>C	ENSP00000187879:p.Gln310His					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.Q350H|ZNF222_uc002oyd.2_Missense_Mutation_p.Q256H	p.Q310H	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1113	+		Prostate(69;0.0435)	310					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.930G>C	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292379	0.59976	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.19250	2.16;2.16	2.72	-1.42	0.08913	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20129	0.0484	N	0.24115	0.695	0.25074	N	0.990978	P;P	0.49358	0.897;0.923	P;P	0.52881	0.712;0.637	T	0.21965	-1.0230	9	0.87932	D	0	.	7.5995	0.28067	0.4345:0.0:0.5655:0.0	.	350;310	G5E9B9;Q9UK12	.;ZN222_HUMAN	H	350;310;256	ENSP00000375822:Q350H;ENSP00000187879:Q310H	ENSP00000187879:Q310H	Q	+	3	2	ZNF222	49228597	0.995000	0.38212	0.039000	0.18376	0.694000	0.40290	0.213000	0.17521	-0.324000	0.08589	0.205000	0.17691	CAG		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			13	190	0	0	0	0.001855	0	13	190				
ZNF226	7769	broad.mit.edu	37	19	44679853	44679853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44679853G>T	ENST00000590089.1	+	7	805	c.438G>T	c.(436-438)gaG>gaT	p.E146D	ZNF226_ENST00000337433.5_Missense_Mutation_p.E146D|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E146D			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	146					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)						Prostate(69;0.0352)|all_neural(266;0.202)				CTGAAGATGAGAACTATATAG	0.398																																					Pancreas(115;581 1665 13228 19278 50070)	Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NA																	0					0						c.(436-438)GAG>GAT		zinc finger protein 226 isoform a							47.0	43.0	44.0					19																	44679853		1821	4077	5898	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44679853G>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.438G>T	19.37:g.44679853G>T	ENSP00000465121:p.Glu146Asp					ZNF226_uc002oyq.2_Missense_Mutation_p.E29D|ZNF226_uc002oyr.2_Missense_Mutation_p.E29D|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.E146D|ZNF226_uc002oyt.2_Missense_Mutation_p.E146D	p.E146D	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	582	+		Prostate(69;0.0352)|all_neural(266;0.202)	146					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.438G>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091252	0.20471	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08282	3.11;3.11	4.37	-4.28	0.03732	.	.	.	.	.	T	0.03739	0.0106	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.44772	-0.9306	9	0.24483	T	0.36	.	2.7015	0.05149	0.5386:0.134:0.1919:0.1355	.	146	Q9NYT6	ZN226_HUMAN	D	146	ENSP00000336719:E146D;ENSP00000393265:E146D	ENSP00000336719:E146D	E	+	3	2	ZNF226	49371693	0.002000	0.14202	0.148000	0.22405	0.010000	0.07245	-0.057000	0.11768	-0.542000	0.06249	-0.868000	0.02995	GAG		0.398	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			7	37	1	0	8.12818e-05	0.001984	9.09297e-05	7	37				
NKPD1	284353	broad.mit.edu	37	19	45655644	45655644	+	Missense_Mutation	SNP	G	G	T	rs370029755		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45655644G>T	ENST00000438936.2	-	3	1596	c.1385C>A	c.(1384-1386)cCc>cAc	p.P462H	NKPD1_ENST00000589776.1_Missense_Mutation_p.P462H|NKPD1_ENST00000317951.4_Missense_Mutation_p.P684H|NKPD1_ENST00000429338.1_Missense_Mutation_p.P462H|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	462						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		gcggccctcgggcgcgccccc	0.726																																							uc010xxi.1		NA																	0					0						c.(2050-2052)CCC>CAC		NTPase, KAP family P-loop domain containing 1							5.0	6.0	6.0					19																	45655644		1827	4013	5840	SO:0001583	missense	284353							g.chr19:45655644G>T	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1385C>A	19.37:g.45655644G>T	ENSP00000401739:p.Pro462His						p.P684H	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	2051	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.2051C>A		.	.	.	.	.	.	.	.	.	.	G	10.93	1.488903	0.26686	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.46063	0.88;0.89;0.88	5.31	4.26	0.50523	.	0.210376	0.29972	N	0.010735	T	0.33177	0.0854	L	0.54323	1.7	0.23277	N	0.997992	B	0.22146	0.065	B	0.25506	0.061	T	0.23619	-1.0183	10	0.13108	T	0.6	-11.339	6.8145	0.23822	0.089:0.0:0.7339:0.1771	.	462	Q17RQ9	NKPD1_HUMAN	H	684;462;462	ENSP00000321976:P684H;ENSP00000401739:P462H;ENSP00000404706:P462H	ENSP00000321976:P684H	P	-	2	0	NKPD1	50347484	0.815000	0.29118	0.842000	0.33263	0.749000	0.42624	1.309000	0.33539	1.206000	0.43276	0.561000	0.74099	CCC		0.726	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		7	2	1	0	0.00307968	0.00308	0.003275	7	2				
BLOC1S3	388552	broad.mit.edu	37	19	45683049	45683049	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45683049G>T	ENST00000433642.2	+	2	591	c.495G>T	c.(493-495)ggG>ggT	p.G165G	BLOC1S3_ENST00000587722.1_Silent_p.G165G|TRAPPC6A_ENST00000585934.1_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000588062.1_5'Flank|TRAPPC6A_ENST00000592647.1_5'Flank|TRAPPC6A_ENST00000006275.4_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	165					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGGCGCGCGGGGACCTTTGTG	0.761									Hermansky-Pudlak syndrome																														uc002pax.3		NA																	0					0						c.(493-495)GGG>GGT		biogenesis of lysosomal organelles complex-1,							6.0	7.0	7.0					19																	45683049		1693	3373	5066	SO:0001819	synonymous_variant	388552	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	g.chr19:45683049G>T	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20914	protein-coding gene	gene with protein product	"""BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"""	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.495G>T	19.37:g.45683049G>T						TRAPPC6A_uc002pav.2_5'Flank|TRAPPC6A_uc002paw.2_5'Flank	p.G165G	NM_212550	NP_997715	Q6QNY0	BL1S3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	2	591	+		Ovarian(192;0.0728)|all_neural(266;0.112)	165					B2RXB8	Silent	SNP	ENST00000433642.2	37	c.495G>T	CCDS12656.1																																																																																				0.761	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		11	5	1	0	3.86212e-05	0.008291	4.37828e-05	11	5				
ERCC2	2068	broad.mit.edu	37	19	45858052	45858052	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45858052C>T	ENST00000391945.4	-	17	1678	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	ERCC2_ENST00000391944.3_Missense_Mutation_p.G456D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	534	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCACGATGCCATCAGGGAC	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002pbj.2		NA	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(1600-1602)GGC>GAC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							182.0	148.0	160.0					19																	45858052		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858052C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1601G>A	19.37:g.45858052C>T	ENSP00000375809:p.Gly534Asp					ERCC2_uc002pbh.2_Missense_Mutation_p.G97D|ERCC2_uc002pbi.2_Missense_Mutation_p.G227D|ERCC2_uc010ejz.2_Missense_Mutation_p.G456D|ERCC2_uc002pbk.2_Missense_Mutation_p.G510D	p.G534D	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1648	-		Ovarian(192;0.0728)|all_neural(266;0.112)	534			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1601G>A	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099361	0.94197	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;T	0.70399	-0.48;-0.48	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	H	0.99659	4.685	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.993	D	0.95266	0.8373	10	0.87932	D	0	-42.5611	16.553	0.84477	0.0:1.0:0.0:0.0	.	456;534;227	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	D	484;510;534;456	ENSP00000375809:G534D;ENSP00000375808:G456D	ENSP00000375805:G484D	G	-	2	0	ERCC2	50549892	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.101000	0.76997	2.507000	0.84556	0.561000	0.74099	GGC		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		93	53	0	0	0	0.00361	0	93	53				
MYPOP	339344	broad.mit.edu	37	19	46404961	46404961	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:46404961T>G	ENST00000322217.5	-	2	157	c.71A>C	c.(70-72)gAg>gCg	p.E24A		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	24	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.					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)			large_intestine(2)|lung(1)|skin(1)	4						GATCTGGTTCTCTTCGAATGA	0.726																																							uc002pdt.2		NA																	0					0						c.(70-72)GAG>GCG		Myb protein P42POP							10.0	11.0	11.0					19																	46404961		2190	4275	6465	SO:0001583	missense	339344					nucleus	DNA binding	g.chr19:46404961T>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.71A>C	19.37:g.46404961T>G	ENSP00000325402:p.Glu24Ala						p.E24A	NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN			2	158	-			24			Myb-like.			Missense_Mutation	SNP	ENST00000322217.5	37	c.71A>C	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738557	0.69304	.	.	ENSG00000176182	ENST00000322217	T	0.80393	-1.37	4.13	4.13	0.48395	SANT domain, DNA binding (1);Homeodomain-related (1);MYB-like (1);	0.000000	0.46758	D	0.000273	D	0.87172	0.6111	M	0.72118	2.19	0.41257	D	0.986751	D	0.65815	0.995	D	0.68943	0.961	D	0.88336	0.2971	10	0.87932	D	0	-19.8694	11.1055	0.48201	0.0:0.0:0.0:1.0	.	24	Q86VE0	MYPOP_HUMAN	A	24	ENSP00000325402:E24A	ENSP00000325402:E24A	E	-	2	0	MYPOP	51096801	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.646000	0.61411	1.510000	0.48803	0.459000	0.35465	GAG		0.726	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		10	3	0	0	0	0.008291	0	10	3				
CRX	1406	broad.mit.edu	37	19	48343050	48343050	+	Silent	SNP	G	G	T	rs371406142		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:48343050G>T	ENST00000221996.7	+	4	932	c.726G>T	c.(724-726)gtG>gtT	p.V242V	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.V242V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	242			V -> M (in CORD2). {ECO:0000269|PubMed:9427255}.		circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCCCCTCCGTGGGACCTTCCC	0.652																																					Pancreas(57;461 1196 22201 40716 47188)	Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(724-726)GTG>GTT		cone-rod homeobox protein							83.0	97.0	92.0					19																	48343050		2203	4300	6503	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343050G>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.726G>T	19.37:g.48343050G>T							p.V242V	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	930	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	242		V -> M (in CORD2).			Q0QD45	Silent	SNP	ENST00000221996.7	37	c.726G>T	CCDS12706.1																																																																																				0.652	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		53	102	1	0	2.17126e-26	0.00361	3.9834e-26	53	102				
PRR12	57479	broad.mit.edu	37	19	50098208	50098208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50098208G>T	ENST00000418929.2	+	4	628	c.616G>T	c.(616-618)Gag>Tag	p.E206*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						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)		ACTGGGCTTCGAGCGCCTGGC	0.701																																							uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(616-618)GAG>TAG		proline rich 12							12.0	14.0	13.0					19																	50098208		1908	4087	5995	SO:0001587	stop_gained	57479						DNA binding	g.chr19:50098208G>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.616G>T	19.37:g.50098208G>T	ENSP00000394510:p.Glu206*						p.E206*	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	616	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Nonsense_Mutation	SNP	ENST00000418929.2	37	c.616G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765143	0.90020	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.319	0.66473	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000394510:E206X	E	+	1	0	PRR12	54790020	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	8.996000	0.93539	1.986000	0.57962	0.563000	0.77884	GAG		0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	2	1	0	1.23904e-05	0.000602	1.4328e-05	4	2				
TBC1D17	79735	broad.mit.edu	37	19	50387984	50387984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50387984G>T	ENST00000221543.5	+	13	1712	c.1413G>T	c.(1411-1413)agG>agT	p.R471S	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R438S	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	471	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGCTCCTGAGGGTGCTGGACC	0.607																																							uc002pqo.2		NA																	0					0						c.(1411-1413)AGG>AGT		TBC1 domain family, member 17							52.0	51.0	51.0					19																	50387984		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387984G>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1413G>T	19.37:g.50387984G>T	ENSP00000221543:p.Arg471Ser					TBC1D17_uc010ybg.1_Missense_Mutation_p.R438S|TBC1D17_uc002pqp.2_Missense_Mutation_p.R122S|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.R122S|TBC1D17_uc002pqs.2_RNA	p.R471S	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	13	1565	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	471			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1413G>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180793	0.38511	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.24538	1.85;1.85	4.23	0.94	0.19513	Rab-GAP/TBC domain (5);	0.191562	0.41396	D	0.000894	T	0.19604	0.0471	L	0.33792	1.035	0.44092	D	0.996854	P;B	0.44521	0.837;0.051	P;B	0.47864	0.559;0.063	T	0.04065	-1.0980	10	0.39692	T	0.17	-23.0986	3.1204	0.06388	0.3099:0.0:0.5006:0.1895	.	438;471	F5H1W7;Q9HA65	.;TBC17_HUMAN	S	471;438	ENSP00000221543:R471S;ENSP00000446323:R438S	ENSP00000221543:R471S	R	+	3	2	TBC1D17	55079796	0.890000	0.30428	0.985000	0.45067	0.962000	0.63368	0.111000	0.15458	0.537000	0.28751	0.655000	0.94253	AGG		0.607	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		14	26	1	0	8.28177e-16	0.007413	1.30232e-15	14	26				
SIGLEC11	114132	broad.mit.edu	37	19	50453299	50453299	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50453299T>A	ENST00000447370.2	-	11	2115	c.2025A>T	c.(2023-2025)acA>acT	p.T675T	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Silent_p.T579T|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	675					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGCTGTCCTGTGTGGATCT	0.607																																							uc010ybh.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2023-2025)ACA>ACT		sialic acid binding Ig-like lectin 11 isoform 1							40.0	38.0	39.0					19																	50453299		2202	4300	6502	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453299T>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2025A>T	19.37:g.50453299T>A						SIGLEC11_uc010ybi.1_Silent_p.T579T	p.T675T	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2116	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	675			Cytoplasmic (Potential).			Silent	SNP	ENST00000447370.2	37	c.2025A>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	3.628	-0.076225	0.07184	.	.	ENSG00000161640	ENST00000426971	.	.	.	2.34	-1.47	0.08772	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	.	6.9236	0.24401	0.0:0.4759:0.0:0.5241	.	.	.	.	L	569	.	.	Q	-	2	0	SIGLEC11	55145111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.982000	0.03762	-0.691000	0.05135	-0.119000	0.15052	CAG		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		7	19	0	0	0	0.004482	0	7	19				
LRRC4B	94030	broad.mit.edu	37	19	51051798	51051798	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:51051798C>G	ENST00000599957.1	-	2	495		c.e2+1		LRRC4B_ENST00000389201.3_Splice_Site			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B						positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCGCATACCTGGATGCCG	0.672																																							uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.e2+1		leucine rich repeat containing 4B precursor							15.0	17.0	16.0					19																	51051798		2078	4196	6274	SO:0001630	splice_region_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51051798C>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.297+1G>C	19.37:g.51051798C>G							p.Q99_splice	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	2	434	-		all_neural(266;0.131)						Q3ZCQ4|Q58F20	Splice_Site	SNP	ENST00000599957.1	37	c.297_splice	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361404	0.41801	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1662	0.25691	0.0:0.8762:0.0:0.1238	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC4B	55743610	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.053000	0.41326	2.042000	0.60477	0.544000	0.68410	.		0.672	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	Intron	2	2	0	0	0	0.004672	0	2	2				
SIGLEC12	89858	broad.mit.edu	37	19	52004799	52004799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:52004799C>A	ENST00000291707.3	-	1	244	c.189G>T	c.(187-189)tgG>tgT	p.W63C	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	63	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCCCGGAACCAGTAGCCAT	0.592																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(187-189)TGG>TGT		sialic acid binding immunoglobulin-like							83.0	70.0	74.0					19																	52004799		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004799C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.189G>T	19.37:g.52004799C>A	ENSP00000291707:p.Trp63Cys					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.W63C	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	245	-		all_neural(266;0.0199)	63			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.189G>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183619	0.38609	.	.	ENSG00000254521	ENST00000291707	D	0.94376	-3.41	2.11	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.640040	0.00714	U	0.000842	D	0.97848	0.9293	H	0.96269	3.795	0.38336	D	0.943938	D	0.89917	1.0	D	0.83275	0.996	D	0.88520	0.3095	10	0.87932	D	0	.	7.3758	0.26827	0.0:1.0:0.0:0.0	.	63	Q96PQ1	SIG12_HUMAN	C	63	ENSP00000291707:W63C	ENSP00000291707:W63C	W	-	3	0	SIGLEC12	56696611	0.982000	0.34865	0.211000	0.23655	0.238000	0.25445	1.317000	0.33631	0.994000	0.38892	0.395000	0.25975	TGG		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		13	17	1	0	3.45872e-05	0.004007	3.95204e-05	13	17				
LILRA1	11024	broad.mit.edu	37	19	55107848	55107848	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:55107848A>T	ENST00000251372.3	+	7	1335	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	385	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ATTCCCTATGAGTCCTGTGAC	0.567																																							uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(1153-1155)AGT>TGT		leukocyte immunoglobulin-like receptor,							149.0	141.0	144.0					19																	55107848		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107848A>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1153A>T	19.37:g.55107848A>T	ENSP00000251372:p.Ser385Cys					LILRA2_uc010yfg.1_Missense_Mutation_p.S383C|LILRA1_uc010yfh.1_Missense_Mutation_p.S385C	p.S385C	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1335	+			385			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1153A>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585678	0.28268	.	.	ENSG00000104974	ENST00000251372	T	0.04049	3.72	1.8	-0.441	0.12257	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.537020	0.04093	N	0.311574	T	0.22742	0.0549	M	0.88512	2.96	0.09310	N	1	D	0.65815	0.995	D	0.71184	0.972	T	0.08617	-1.0713	10	0.87932	D	0	.	4.3159	0.10993	0.6064:0.0:0.3936:0.0	.	385	O75019	LIRA1_HUMAN	C	385	ENSP00000251372:S385C	ENSP00000251372:S385C	S	+	1	0	LILRA1	59799660	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.368000	0.02580	-0.193000	0.10415	-1.134000	0.01955	AGT		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		39	80	0	0	0	0.007835	0	39	80				
TNNT1	7138	broad.mit.edu	37	19	55653268	55653268	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:55653268A>T	ENST00000588981.1	-	7	353	c.149T>A	c.(148-150)tTg>tAg	p.L50*	TNNT1_ENST00000536926.1_Nonsense_Mutation_p.L39*|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000356783.5_Nonsense_Mutation_p.L39*|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Nonsense_Mutation_p.L50*|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000587758.1_Nonsense_Mutation_p.L39*	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	50					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TGGCGGGATCAAAGGAGGCAC	0.602																																							uc002qjb.3		NA																	0				ovary(1)	1						c.(148-150)TTG>TAG		troponin T1, skeletal, slow isoform a							93.0	98.0	96.0					19																	55653268		2203	4300	6503	SO:0001587	stop_gained	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55653268A>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.149T>A	19.37:g.55653268A>T	ENSP00000467176:p.Leu50*					TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Nonsense_Mutation_p.L50*|TNNT1_uc002qje.3_Nonsense_Mutation_p.L39*|TNNT1_uc002qjd.3_Nonsense_Mutation_p.L39*|TNNT1_uc002qjf.2_Nonsense_Mutation_p.L46*	p.L50*	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	7	238	-			50					O95472|Q16061|Q5U0E1	Nonsense_Mutation	SNP	ENST00000588981.1	37	c.149T>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	A	31	5.066235	0.93898	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000429737	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1203	10.9216	0.47167	1.0:0.0:0.0:0.0	.	.	.	.	X	50;39;39;65	.	ENSP00000291901:L50X	L	-	2	0	TNNT1	60345080	0.998000	0.40836	0.768000	0.31515	0.606000	0.37113	5.023000	0.64084	1.517000	0.48917	0.379000	0.24179	TTG		0.602	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		42	61	0	0	0	0.003214	0	42	61				
USP29	57663	broad.mit.edu	37	19	57640451	57640451	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57640451C>A	ENST00000254181.4	+	4	862	c.408C>A	c.(406-408)agC>agA	p.S136R	USP29_ENST00000598197.1_Missense_Mutation_p.S136R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	136					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTTTACAGCATTTGTAACA	0.373																																							uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(406-408)AGC>AGA		ubiquitin specific peptidase 29							70.0	66.0	67.0					19																	57640451		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640451C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.408C>A	19.37:g.57640451C>A	ENSP00000254181:p.Ser136Arg						p.S136R	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	764	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	136						Missense_Mutation	SNP	ENST00000254181.4	37	c.408C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	3.895	-0.023142	0.07634	.	.	ENSG00000131864	ENST00000254181	T	0.51071	0.72	2.72	-5.45	0.02616	.	.	.	.	.	T	0.16854	0.0405	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10132	-1.0643	9	0.44086	T	0.13	1.118	0.2375	0.00188	0.2746:0.2652:0.235:0.2252	.	136	Q9HBJ7	UBP29_HUMAN	R	136	ENSP00000254181:S136R	ENSP00000254181:S136R	S	+	3	2	USP29	62332263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.502000	0.02279	-1.783000	0.01274	-1.484000	0.00983	AGC		0.373	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			13	38	1	0	4.3838e-07	0.001855	5.33905e-07	13	38				
USP29	57663	broad.mit.edu	37	19	57640799	57640799	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57640799T>C	ENST00000254181.4	+	4	1210	c.756T>C	c.(754-756)aaT>aaC	p.N252N	USP29_ENST00000598197.1_Silent_p.N252N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	252					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGCCAAAAATGGTTTGACAT	0.468																																							uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(754-756)AAT>AAC		ubiquitin specific peptidase 29							87.0	90.0	89.0					19																	57640799		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640799T>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.756T>C	19.37:g.57640799T>C							p.N252N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1112	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	252						Silent	SNP	ENST00000254181.4	37	c.756T>C	CCDS33124.1																																																																																				0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			11	52	0	0	0	0.008291	0	11	52				
ZNF548	147694	broad.mit.edu	37	19	57909965	57909966	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57909965_57909966GG>TT	ENST00000366197.5	+	3	560_561	c.310_311GG>TT	c.(310-312)GGa>TTa	p.G104L	ZNF548_ENST00000597400.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.G116L|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGCACAATGGAATTCATCCT	0.47																																							uc002qom.2		NA																	0				breast(1)	1						c.(310-312)GGA>TTA		zinc finger protein 548																																				SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909965_57909966GG>TT	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		Exception_encountered	19.37:g.57909965_57909966delinsTT	ENSP00000379482:p.Gly104Leu					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.G107L	p.G104L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	560_561	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	104					Q96M05	Missense_Mutation	DNP	ENST00000366197.5	37	c.310_311GG>TT	CCDS46209.1																																																																																				0.470	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		24	45	0	0	0	0.004672	0	24	45				
ZSCAN1	284312	broad.mit.edu	37	19	58563973	58563973	+	Missense_Mutation	SNP	C	C	A	rs144488549		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:58563973C>A	ENST00000282326.1	+	5	828	c.581C>A	c.(580-582)gCg>gAg	p.A194E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	194					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGGCCGAAGCGCCCCGCGCC	0.602																																							uc002qrc.1		NA																	0				ovary(2)	2						c.(580-582)GCG>GAG		zinc finger and SCAN domain containing 1							28.0	32.0	31.0					19																	58563973		2203	4296	6499	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58563973C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.581C>A	19.37:g.58563973C>A	ENSP00000282326:p.Ala194Glu						p.A194E	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	828	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	194					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.581C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.354828	0.01256	.	.	ENSG00000152467	ENST00000282326	T	0.04156	3.69	1.91	-3.2	0.05156	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	P	0.38110	0.618	B	0.34931	0.192	T	0.36065	-0.9763	9	0.02654	T	1	.	3.2189	0.06708	0.0:0.4462:0.2241:0.3296	.	194	Q8NBB4	ZSCA1_HUMAN	E	194	ENSP00000282326:A194E	ENSP00000282326:A194E	A	+	2	0	ZSCAN1	63255785	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.771000	0.01789	-0.834000	0.04239	-0.320000	0.08662	GCG		0.602	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		11	31	1	0	2.27111e-07	0.001368	2.78718e-07	11	31				
MYT1L	23040	broad.mit.edu	37	2	1893222	1893222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:1893222C>G	ENST00000399161.2	-	16	3058	c.2311G>C	c.(2311-2313)Ggg>Cgg	p.G771R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G769R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	771					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCAGGGTCCCGTTCTCATCC	0.597																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2311-2313)GGG>CGG		myelin transcription factor 1-like							59.0	61.0	60.0					2																	1893222		2055	4194	6249	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893222C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2311G>C	2.37:g.1893222C>G	ENSP00000382114:p.Gly771Arg					MYT1L_uc002qxd.2_Missense_Mutation_p.G769R|MYT1L_uc010ewl.1_RNA	p.G771R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3138	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	771					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2311G>C		.	.	.	.	.	.	.	.	.	.	C	22.2	4.260572	0.80246	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.66638	-0.22;-0.22	4.78	4.78	0.61160	Myelin transcription factor 1 (1);	0.049012	0.85682	D	0.000000	T	0.80363	0.4609	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82014	-0.0667	10	0.59425	D	0.04	-37.2412	18.1739	0.89756	0.0:1.0:0.0:0.0	.	771;769	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	771;717;769	ENSP00000382114:G771R;ENSP00000396103:G769R	ENSP00000295067:G717R	G	-	1	0	MYT1L	1872229	1.000000	0.71417	0.724000	0.30704	0.878000	0.50629	5.953000	0.70290	2.368000	0.80403	0.591000	0.81541	GGG		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		38	28	0	0	0	0.002522	0	38	28				
LPIN1	23175	broad.mit.edu	37	2	11964914	11964914	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:11964914G>T	ENST00000256720.2	+	20	2763	c.2670G>T	c.(2668-2670)gcG>gcT	p.A890A	LPIN1_ENST00000396099.1_Silent_p.A932A|LPIN1_ENST00000449576.2_Silent_p.A975A|LPIN1_ENST00000396097.1_Silent_p.A620A|LPIN1_ENST00000425416.2_Silent_p.A896A|LPIN1_ENST00000404113.2_Silent_p.A391A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	890					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGCCTCAGCGTAAAATGTCC	0.517																																							uc010yjn.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2668-2670)GCG>GCT		lipin 1							78.0	80.0	79.0					2																	11964914		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11964914G>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2670G>T	2.37:g.11964914G>T						LPIN1_uc010yjm.1_Silent_p.A975A|LPIN1_uc002rbt.2_Silent_p.A890A|LPIN1_uc010yjo.1_Silent_p.A391A	p.A890A	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	21	2944	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		890					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.2670G>T	CCDS1682.1																																																																																				0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		4	34	1	0	2.56e-06	0.009096	3.02584e-06	4	34				
NBAS	51594	broad.mit.edu	37	2	15496434	15496434	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:15496434C>T	ENST00000281513.5	-	33	3949	c.3924G>A	c.(3922-3924)atG>atA	p.M1308I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1188I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1308					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACCTGTGGCCATCAGCTCCT	0.448																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(3922-3924)ATG>ATA		neuroblastoma-amplified protein							153.0	141.0	145.0					2																	15496434		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15496434C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3924G>A	2.37:g.15496434C>T	ENSP00000281513:p.Met1308Ile					NBAS_uc010exl.1_Missense_Mutation_p.M380I|NBAS_uc002rcd.1_RNA	p.M1308I	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			33	3950	-			1308					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3924G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.384078|3.384078	0.61845|0.61845	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.16743|.	2.32;2.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69700|.	0.3140|.	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999996|0.999996	P;D|.	0.54397|.	0.824;0.966|.	B;P|.	0.55577|.	0.284;0.779|.	T|.	0.65117|.	-0.6246|.	10|.	0.87932|.	D|.	0|.	.|.	17.2663|17.2663	0.87087|0.87087	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1188;1308|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	I|X	1188;1308|356	ENSP00000413201:M1188I;ENSP00000281513:M1308I|.	ENSP00000281513:M1308I|.	M|W	-|-	3|2	0|0	NBAS|NBAS	15413885|15413885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.837000|4.837000	0.62796|0.62796	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	ATG|TGG		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	51	0	0	0	0.003163	0	14	51				
NBAS	51594	broad.mit.edu	37	2	15514742	15514742	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:15514742C>A	ENST00000281513.5	-	31	3718	c.3693G>T	c.(3691-3693)ctG>ctT	p.L1231L	NBAS_ENST00000441750.1_Silent_p.L1111L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1231					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTGCAAAGGCAGGATCTTTA	0.378																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(3691-3693)CTG>CTT		neuroblastoma-amplified protein							143.0	150.0	147.0					2																	15514742		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15514742C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3693G>T	2.37:g.15514742C>A						NBAS_uc010exl.1_Silent_p.L303L|NBAS_uc002rcd.1_RNA	p.L1231L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			31	3719	-			1231					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3693G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863902	0.17250	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.73	-7.93	0.01156	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44513	-0.9323	4	.	.	.	.	0.3319	0.00320	0.2305:0.2506:0.2289:0.29	.	.	.	.	F	279	.	.	C	-	2	0	NBAS	15432193	0.665000	0.27466	0.891000	0.34965	0.987000	0.75469	-0.276000	0.08514	-0.984000	0.03507	-0.880000	0.02959	TGC		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		77	67	1	0	2.05912e-35	0.00361	3.89155e-35	77	67				
APOB	338	broad.mit.edu	37	2	21229397	21229397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:21229397G>T	ENST00000233242.1	-	26	10470	c.10343C>A	c.(10342-10344)aCc>aAc	p.T3448N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3448	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3448N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTGACTTGGTATTTCCATT	0.378																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10342-10344)ACC>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						159.0	163.0	162.0					2																	21229397		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229397G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10343C>A	2.37:g.21229397G>T	ENSP00000233242:p.Thr3448Asn						p.T3448N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10471	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3448			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10343C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353416	0.61293	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80824	-1.42	5.74	4.86	0.63082	.	0.000000	0.64402	D	0.000010	D	0.88945	0.6575	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88749	0.3249	10	0.48119	T	0.1	.	15.0463	0.71830	0.069:0.0:0.931:0.0	.	3448	P04114	APOB_HUMAN	N	3448	ENSP00000233242:T3448N	ENSP00000233242:T3448N	T	-	2	0	APOB	21082902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.004000	0.57068	2.703000	0.92315	0.655000	0.94253	ACC		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	136	1	0	1.01871e-10	0.008871	1.38714e-10	19	136				
APOB	338	broad.mit.edu	37	2	21229575	21229575	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:21229575T>C	ENST00000233242.1	-	26	10292	c.10165A>G	c.(10165-10167)Aga>Gga	p.R3389G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3389	Basic (possible receptor binding region).|Heparin-binding.|LDL receptor binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTTTTTCTTGTCAATCTT	0.403																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10165-10167)AGA>GGA		apolipoprotein B precursor	Atorvastatin(DB01076)						134.0	131.0	132.0					2																	21229575		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229575T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10165A>G	2.37:g.21229575T>C	ENSP00000233242:p.Arg3389Gly						p.R3389G	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10293	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3389			Basic (possible receptor binding region).|LDL receptor binding.|Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10165A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108083	0.37242	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39592	1.07	5.63	4.46	0.54185	.	0.081367	0.52532	D	0.000070	T	0.61714	0.2369	M	0.91818	3.245	0.31695	N	0.641375	P	0.45672	0.864	P	0.50791	0.65	T	0.73914	-0.3832	10	0.72032	D	0.01	.	11.534	0.50626	0.0:0.0:0.2967:0.7033	.	3389	P04114	APOB_HUMAN	G	3389	ENSP00000233242:R3389G	ENSP00000233242:R3389G	R	-	1	2	APOB	21083080	0.749000	0.28305	0.452000	0.26994	0.667000	0.39255	4.126000	0.57937	0.932000	0.37266	0.533000	0.62120	AGA		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			21	112	0	0	0	0.010504	0	21	112				
UBXN2A	165324	broad.mit.edu	37	2	24205808	24205808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:24205808G>T	ENST00000309033.4	+	5	574	c.330G>T	c.(328-330)gaG>gaT	p.E110D	UBXN2A_ENST00000404924.1_Missense_Mutation_p.E110D|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E110D	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	110	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						ATAAAGAAGAGGTGGACGTTA	0.358																																							uc010exy.2		NA																	0					0						c.(328-330)GAG>GAT		UBX domain containing 4							99.0	106.0	104.0					2																	24205808		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24205808G>T	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.330G>T	2.37:g.24205808G>T	ENSP00000312107:p.Glu110Asp					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E110D|UBXN2A_uc010ykj.1_Missense_Mutation_p.E110D	p.E110D	NM_181713	NP_859064	P68543	UBX2A_HUMAN			6	798	+			110			SEP.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.330G>T	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573978	0.65765	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.48201	0.83;0.83;0.82	5.13	1.25	0.21368	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	L	0.48362	1.52	0.47862	D	0.999538	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45498	-0.9257	10	0.20519	T	0.43	-22.3027	9.5617	0.39373	0.3845:0.0:0.6155:0.0	.	110;110	B7ZKP8;P68543	.;UBX2A_HUMAN	D	110	ENSP00000385525:E110D;ENSP00000312107:E110D;ENSP00000440533:E110D	ENSP00000312107:E110D	E	+	3	2	UBXN2A	24059312	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	0.694000	0.25512	0.283000	0.22279	0.563000	0.77884	GAG		0.358	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		14	49	1	0	3.27435e-08	0.00245	4.14541e-08	14	49				
HADHA	3030	broad.mit.edu	37	2	26457193	26457193	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:26457193T>C	ENST00000380649.3	-	5	474	c.345A>G	c.(343-345)gaA>gaG	p.E115E	HADHA_ENST00000457468.2_Silent_p.E28E|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	115					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTGTTACTTCTTGAAGGG	0.388																																							uc002rgy.2		NA																	0				ovary(1)	1						c.(343-345)GAA>GAG		mitochondrial trifunctional protein, alpha	NADH(DB00157)						119.0	111.0	114.0					2																	26457193		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457193T>C	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.345A>G	2.37:g.26457193T>C						HADHA_uc010yks.1_Silent_p.E28E|HADHA_uc010ykt.1_Silent_p.E28E	p.E115E	NM_000182	NP_000173	P40939	ECHA_HUMAN			5	475	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		115					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.345A>G	CCDS1721.1																																																																																				0.388	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		25	69	0	0	0	0.007291	0	25	69				
PRR30	339779	broad.mit.edu	37	2	27361043	27361043	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:27361043G>C	ENST00000335524.3	-	3	680	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		52	Pro-rich.							p.S52C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGTGGAAGAGAACGGTGG	0.582																																							uc002rjb.2		NA																	1	Substitution - Missense(1)		cervix(1)		0						c.(154-156)TCT>TGT		hypothetical protein LOC339779							104.0	94.0	97.0					2																	27361043		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27361043G>C																												ENST00000335524.3:c.155C>G	2.37:g.27361043G>C	ENSP00000335017:p.Ser52Cys						p.S52C	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	735	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		52			Pro-rich.		Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.155C>G	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862390	0.17178	.	.	ENSG00000186143	ENST00000335524	T	0.34472	1.36	3.77	2.88	0.33553	.	.	.	.	.	T	0.27134	0.0665	N	0.14661	0.345	0.09310	N	1	P	0.40250	0.709	P	0.45195	0.473	T	0.11012	-1.0605	9	0.44086	T	0.13	9.0E-4	9.1277	0.36826	0.2081:0.0:0.7919:0.0	.	52	Q53SZ7	CB053_HUMAN	C	52	ENSP00000335017:S52C	ENSP00000335017:S52C	S	-	2	0	C2orf53	27214547	0.022000	0.18835	0.003000	0.11579	0.009000	0.06853	1.745000	0.38278	0.194000	0.20326	-1.134000	0.01955	TCT		0.582	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			4	25	0	0	0	0.009096	0	4	25				
IFT172	26160	broad.mit.edu	37	2	27677520	27677520	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:27677520C>T	ENST00000260570.3	-	31	3482	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1127					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AACGCAAATTCAAAGGAGCTG	0.443																																							uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3379-3381)GAA>AAA		selective LIM binding factor homolog							56.0	57.0	56.0					2																	27677520		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27677520C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3379G>A	2.37:g.27677520C>T	ENSP00000260570:p.Glu1127Lys					IFT172_uc010ezb.2_5'Flank	p.E1127K	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			31	3430	-	Acute lymphoblastic leukemia(172;0.155)		1127					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3379G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935996	0.73442	.	.	ENSG00000138002	ENST00000260570	T	0.54675	0.56	5.47	5.47	0.80525	.	0.194652	0.51477	D	0.000090	T	0.53690	0.1812	L	0.54323	1.7	0.80722	D	1	P	0.41929	0.765	B	0.41299	0.353	T	0.59311	-0.7478	10	0.66056	D	0.02	-17.4903	17.8942	0.88881	0.0:1.0:0.0:0.0	.	1127	Q9UG01	IF172_HUMAN	K	1127	ENSP00000260570:E1127K	ENSP00000260570:E1127K	E	-	1	0	IFT172	27531024	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.536000	0.67180	2.577000	0.86979	0.655000	0.94253	GAA		0.443	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		10	38	0	0	0	0.008291	0	10	38				
ALK	238	broad.mit.edu	37	2	29551294	29551294	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:29551294C>T	ENST00000389048.3	-	6	2242	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	446	LDL-receptor class A.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGGACTGTCCCATTCCAACAA	0.582			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1336-1338)GGG>AGG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						83.0	73.0	76.0					2																	29551294		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551294C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1336G>A	2.37:g.29551294C>T	ENSP00000373700:p.Gly446Arg						p.G446R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			6	2243	-	Acute lymphoblastic leukemia(172;0.155)		446			LDL-receptor class A.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1336G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.366340	0.82463	.	.	ENSG00000171094	ENST00000389048	D	0.96200	-3.94	5.27	5.27	0.74061	.	0.000000	0.48286	U	0.000196	D	0.95843	0.8647	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94929	0.8080	9	.	.	.	.	14.4139	0.67135	0.0:1.0:0.0:0.0	.	446	Q9UM73	ALK_HUMAN	R	446	ENSP00000373700:G446R	.	G	-	1	0	ALK	29404798	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	4.679000	0.61649	2.480000	0.83734	0.450000	0.29827	GGG		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	72	0	0	0	0.009096	0	4	72				
CAPN13	92291	broad.mit.edu	37	2	30974119	30974119	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:30974119T>A	ENST00000295055.8	-	11	1264		c.e11-2		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGTCCTCCTGCATCAGAAA	0.522																																							uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.e11-1		calpain 13							73.0	69.0	71.0					2																	30974119		2008	4161	6169	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30974119T>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1088-2A>T	2.37:g.30974119T>A						CAPN13_uc002rnp.1_Intron	p.G363_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			11	1264	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37	c.1088_splice	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508484	0.27036	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3933	0.44185	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30827623	0.865000	0.29922	0.555000	0.28281	0.020000	0.10135	3.462000	0.53042	1.761000	0.52028	0.459000	0.35465	.		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	18	15	0	0	0	0.010504	0	18	15				
LTBP1	4052	broad.mit.edu	37	2	33518259	33518259	+	Missense_Mutation	SNP	G	G	T	rs200895398		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:33518259G>T	ENST00000404816.2	+	20	3498	c.3145G>T	c.(3145-3147)Gca>Tca	p.A1049S	LTBP1_ENST00000404525.1_Missense_Mutation_p.A670S|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.A723S|LTBP1_ENST00000402934.1_Missense_Mutation_p.A670S|LTBP1_ENST00000390003.4_Missense_Mutation_p.A724S|LTBP1_ENST00000418533.2_Missense_Mutation_p.A723S|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1050S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1049	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAACGTCTGCGCAAATGGTGA	0.423																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3148-3150)GCA>TCA		latent transforming growth factor beta binding							104.0	93.0	97.0					2																	33518259		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33518259G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3145G>T	2.37:g.33518259G>T	ENSP00000386043:p.Ala1049Ser					LTBP1_uc002rot.2_Missense_Mutation_p.A724S|LTBP1_uc002rou.2_Missense_Mutation_p.A723S|LTBP1_uc002rov.2_Missense_Mutation_p.A670S|LTBP1_uc010ymz.1_Missense_Mutation_p.A723S|LTBP1_uc010yna.1_Missense_Mutation_p.A670S|LTBP1_uc010ynb.1_5'UTR	p.A1050S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			20	3148	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1049			EGF-like 8; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3148G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235229	0.22626	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.66	-2.9	0.05648	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78387	0.4275	N	0.11023	0.085	0.35178	D	0.772198	B;B;B;B;B;B	0.12013	0.005;0.0;0.003;0.0;0.001;0.004	B;B;B;B;B;B	0.13407	0.009;0.004;0.005;0.003;0.003;0.005	T	0.61739	-0.7001	9	0.16420	T	0.52	.	6.2336	0.20750	0.2802:0.0:0.4544:0.2653	.	1049;723;670;723;724;1050	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	S	1049;1050;724;723;670;670;723	ENSP00000386043:A1049S;ENSP00000346467:A1050S;ENSP00000374653:A724S;ENSP00000393057:A723S;ENSP00000384373:A670S;ENSP00000385359:A670S;ENSP00000384091:A723S	ENSP00000346467:A1050S	A	+	1	0	LTBP1	33371763	0.001000	0.12720	0.087000	0.20705	0.989000	0.77384	-0.351000	0.07711	-0.734000	0.04843	-0.381000	0.06696	GCA		0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		14	21	1	0	0.00244969	0.00245	0.00261664	14	21				
HEATR5B	54497	broad.mit.edu	37	2	37283695	37283695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:37283695G>A	ENST00000233099.5	-	16	2382	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R763C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	763						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGGTATGCGTAAATAAATA	0.463																																							uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2287-2289)CGC>TGC		HEAT repeat containing 5B							92.0	98.0	96.0					2																	37283695		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37283695G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2287C>T	2.37:g.37283695G>A	ENSP00000233099:p.Arg763Cys						p.R763C	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			16	2383	-		all_hematologic(82;0.21)	763					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2287C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436463	0.83885	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.47528	0.84;0.84	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	P	0.59703	0.862	T	0.51980	-0.8636	10	0.36615	T	0.2	-12.5615	19.5903	0.95508	0.0:0.0:1.0:0.0	.	763	Q9P2D3	HTR5B_HUMAN	C	763	ENSP00000233099:R763C;ENSP00000346531:R763C	ENSP00000233099:R763C	R	-	1	0	HEATR5B	37137199	1.000000	0.71417	0.940000	0.37924	0.319000	0.28217	9.812000	0.99227	2.629000	0.89072	0.655000	0.94253	CGC		0.463	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		13	112	0	0	0	0.001368	0	13	112				
SLC8A1	6546	broad.mit.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	G	C	rs370199920		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:40656328G>C	ENST00000403092.1	-	2	1126	c.1093C>G	c.(1093-1095)Cgc>Ggc	p.R365G	SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	365					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1093-1095)CGC>GGC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						165.0	157.0	160.0					2																	40656328		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656328G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1093C>G	2.37:g.40656328G>C	ENSP00000384763:p.Arg365Gly					SLC8A1_uc002rry.2_Missense_Mutation_p.R365G|SLC8A1_uc002rrz.2_Missense_Mutation_p.R365G|SLC8A1_uc002rsa.2_Missense_Mutation_p.R365G|SLC8A1_uc002rsd.3_Missense_Mutation_p.R365G|SLC8A1_uc002rsb.1_Missense_Mutation_p.R365G|SLC8A1_uc010fan.1_Missense_Mutation_p.R365G|SLC8A1_uc002rsc.1_Missense_Mutation_p.R365G	p.R365G	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1117	-			365			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1093C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208636	0.58343	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.54279	0.63;0.66;0.65;0.66;0.63;0.63;0.65;0.58;0.63;0.62	6.17	5.29	0.74685	Heat shock protein DnaJ, N-terminal (1);	0.049164	0.85682	D	0.000000	T	0.78233	0.4251	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;0.997;1.0	D	0.83814	0.0243	10	0.87932	D	0	.	14.9877	0.71362	0.0:0.0:0.857:0.143	.	365;365;365;365;365	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	G	365	ENSP00000383886:R365G;ENSP00000440727:R365G;ENSP00000384763:R365G;ENSP00000385678:R365G;ENSP00000385188:R365G;ENSP00000385535:R365G;ENSP00000332931:R365G;ENSP00000384908:R365G;ENSP00000385811:R365G;ENSP00000443515:R365G	ENSP00000332931:R365G	R	-	1	0	SLC8A1	40509832	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.812000	0.86109	1.600000	0.50102	0.655000	0.94253	CGC		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		12	66	0	0	0	0.00245	0	12	66				
ABCG8	64241	broad.mit.edu	37	2	44079810	44079810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44079810C>T	ENST00000272286.2	+	6	857	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	256	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGACCTTGTCCAGGCTGGCC	0.572																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(766-768)TCC>TTC		ATP-binding cassette sub-family G member 8							79.0	72.0	74.0					2																	44079810		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079810C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.767C>T	2.37:g.44079810C>T	ENSP00000272286:p.Ser256Phe					ABCG8_uc010yoa.1_Missense_Mutation_p.S256F	p.S256F	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	857	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	256			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.767C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493554	0.26774	.	.	ENSG00000143921	ENST00000272286	T	0.42513	0.97	5.06	3.22	0.36961	ABC transporter-like (1);	0.275441	0.42682	D	0.000665	T	0.47948	0.1473	L	0.46157	1.445	0.48288	D	0.999621	D;D	0.61080	0.989;0.982	P;P	0.59643	0.861;0.729	T	0.26467	-1.0102	10	0.23302	T	0.38	.	10.203	0.43097	0.1356:0.7926:0.0:0.0718	.	256;256	Q9H221-2;Q9H221	.;ABCG8_HUMAN	F	256	ENSP00000272286:S256F	ENSP00000272286:S256F	S	+	2	0	ABCG8	43933314	1.000000	0.71417	0.196000	0.23383	0.801000	0.45260	2.939000	0.48995	0.498000	0.27948	0.561000	0.74099	TCC		0.572	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		41	25	0	0	0	0.006999	0	41	25				
ABCG8	64241	broad.mit.edu	37	2	44079825	44079825	+	Missense_Mutation	SNP	G	G	T	rs367993259		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44079825G>T	ENST00000272286.2	+	6	872	c.782G>T	c.(781-783)gGc>gTc	p.G261V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	261	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCAAAGGCAACCGGCTG	0.562																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(781-783)GGC>GTC		ATP-binding cassette sub-family G member 8		G	VAL/GLY	0,4406		0,0,2203	71.0	66.0	68.0		782	5.1	1.0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG8	NM_022437.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	261/674	44079825	1,13005	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079825G>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.782G>T	2.37:g.44079825G>T	ENSP00000272286:p.Gly261Val					ABCG8_uc010yoa.1_Missense_Mutation_p.G261V	p.G261V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	872	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	261			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.782G>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600829	0.87055	0.0	1.16E-4	ENSG00000143921	ENST00000272286	D	0.92965	-3.14	5.06	5.06	0.68205	ABC transporter-like (1);	0.049786	0.85682	D	0.000000	D	0.93275	0.7857	L	0.31578	0.945	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.67382	0.951;0.92	D	0.94127	0.7385	10	0.59425	D	0.04	.	18.4497	0.90699	0.0:0.0:1.0:0.0	.	261;261	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	261	ENSP00000272286:G261V	ENSP00000272286:G261V	G	+	2	0	ABCG8	43933329	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.383000	0.97214	2.342000	0.79632	0.561000	0.74099	GGC		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		34	25	1	0	3.67414e-24	0.002445	6.61437e-24	34	25				
PREPL	9581	broad.mit.edu	37	2	44565657	44565657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44565657C>T	ENST00000409936.1	-	8	1425	c.988G>A	c.(988-990)Gat>Aat	p.D330N	PREPL_ENST00000409957.1_Missense_Mutation_p.D241N|PREPL_ENST00000378520.3_Missense_Mutation_p.D330N|PREPL_ENST00000410081.1_Missense_Mutation_p.D330N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000409411.1_Missense_Mutation_p.D241N|PREPL_ENST00000409272.1_Missense_Mutation_p.D330N|PREPL_ENST00000260648.6_Missense_Mutation_p.D330N|PREPL_ENST00000541738.1_Missense_Mutation_p.D241N	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	330						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGGGTATCAGCCGCTGTT	0.378																																							uc002ruf.2		NA																	0				ovary(1)	1						c.(988-990)GAT>AAT		prolyl endopeptidase-like isoform C							70.0	69.0	69.0					2																	44565657		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44565657C>T	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.988G>A	2.37:g.44565657C>T	ENSP00000386543:p.Asp330Asn					PREPL_uc002rug.2_Missense_Mutation_p.D330N|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Missense_Mutation_p.D330N|PREPL_uc002rui.3_Missense_Mutation_p.D241N|PREPL_uc002ruj.1_Missense_Mutation_p.D241N|PREPL_uc002ruk.1_Missense_Mutation_p.D330N	p.D330N	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			7	1023	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	330					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.988G>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795224	0.50208	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.35	4.28	0.50868	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.220809	0.46145	D	0.000310	T	0.22742	0.0549	N	0.04959	-0.14	0.21915	N	0.999476	B;B	0.23650	0.089;0.087	B;B	0.24155	0.013;0.051	T	0.09185	-1.0686	10	0.18710	T	0.47	-23.5174	14.9082	0.70735	0.0:0.9193:0.0:0.0807	.	330;330	Q4J6C6-2;Q4J6C6	.;PPCEL_HUMAN	N	241;241;241;330;330;330;330;330	ENSP00000439626:D241N;ENSP00000387095:D241N;ENSP00000387241:D241N;ENSP00000386543:D330N;ENSP00000260648:D330N;ENSP00000386909:D330N;ENSP00000386509:D330N;ENSP00000367781:D330N	ENSP00000260648:D330N	D	-	1	0	PREPL	44419161	0.947000	0.32204	1.000000	0.80357	0.952000	0.60782	1.599000	0.36751	2.496000	0.84212	0.655000	0.94253	GAT		0.378	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		8	50	0	0	0	0.00308	0	8	50				
PPP1R21	129285	broad.mit.edu	37	2	48725686	48725686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:48725686A>G	ENST00000294952.8	+	17	1904	c.1747A>G	c.(1747-1749)Atg>Gtg	p.M583V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.M583V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.M552V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	583						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						AGAACATTGGATGTTGGAAGC	0.398																																							uc002rwm.2		NA																	0				ovary(1)	1						c.(1747-1749)ATG>GTG		KLRAQ motif containing 1 isoform 1							94.0	92.0	92.0					2																	48725686		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48725686A>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1747A>G	2.37:g.48725686A>G	ENSP00000294952:p.Met583Val					KLRAQ1_uc002rwl.2_Missense_Mutation_p.M537V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.M583V|KLRAQ1_uc010yok.1_Missense_Mutation_p.M552V	p.M583V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			17	1932	+			583			Potential.		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1747A>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829528	0.50845	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	5.87	0.94306	.	0.038782	0.85682	D	0.000000	T	0.74366	0.3707	L	0.59436	1.845	0.48632	D	0.999689	P;D;B	0.59357	0.509;0.985;0.225	B;D;B	0.72338	0.127;0.977;0.078	T	0.69569	-0.5110	9	0.17832	T	0.49	-25.2221	16.2806	0.82678	1.0:0.0:0.0:0.0	.	552;583;583	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	V	583;583;552	.	ENSP00000281394:M583V	M	+	1	0	KLRAQ1	48579190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.656000	0.67988	2.248000	0.74166	0.533000	0.62120	ATG		0.398	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		8	35	0	0	0	0.00308	0	8	35				
TSPYL6	388951	broad.mit.edu	37	2	54482321	54482321	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:54482321G>T	ENST00000317802.7	-	1	1088	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	323					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						AGTGGAAAAAGACACCACTTG	0.468																																							uc002rxr.2		NA																	0					0						c.(967-969)TCT>TAT		TSPY-like 6							83.0	85.0	84.0					2																	54482321		2096	4252	6348	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54482321G>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.968C>A	2.37:g.54482321G>T	ENSP00000417919:p.Ser323Tyr					ACYP2_uc002rxq.3_Intron	p.S323Y	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			1	1089	-			323					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.968C>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292712	0.40594	.	.	ENSG00000178021	ENST00000317802	T	0.29397	1.57	1.67	0.741	0.18336	.	.	.	.	.	T	0.46946	0.1419	M	0.62016	1.91	0.28474	N	0.915263	D	0.89917	1.0	D	0.91635	0.999	T	0.31998	-0.9923	9	0.87932	D	0	.	6.4888	0.22103	0.173:0.0:0.827:0.0	.	323	Q8N831	TSYL6_HUMAN	Y	323	ENSP00000417919:S323Y	ENSP00000417919:S323Y	S	-	2	0	TSPYL6	54335825	0.683000	0.27633	0.011000	0.14972	0.119000	0.20118	0.943000	0.29030	0.253000	0.21552	0.467000	0.42956	TCT		0.468	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		28	57	1	0	8.58068e-18	0.007291	1.40287e-17	28	57				
RTN4	57142	broad.mit.edu	37	2	55253785	55253785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:55253785C>A	ENST00000337526.6	-	3	1693	c.1450G>T	c.(1450-1452)Gga>Tga	p.G484*	RTN4_ENST00000354474.6_Nonsense_Mutation_p.G252*|RTN4_ENST00000394611.2_Nonsense_Mutation_p.G278*|RTN4_ENST00000405240.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Nonsense_Mutation_p.G278*	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	484					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTAGGATCTCCTAACAAAGGA	0.388																																							uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1450-1452)GGA>TGA		reticulon 4 isoform A							102.0	100.0	101.0					2																	55253785		2203	4300	6503	SO:0001587	stop_gained	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253785C>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1450G>T	2.37:g.55253785C>A	ENSP00000337838:p.Gly484*					RTN4_uc002ryd.2_Nonsense_Mutation_p.G278*|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.G484*	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1748	-			484			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Nonsense_Mutation	SNP	ENST00000337526.6	37	c.1450G>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378418	0.95945	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	.	.	.	6.06	6.06	0.98353	.	0.385249	0.30142	N	0.010316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.8445	13.774	0.63041	0.0:0.9304:0.0:0.0696	.	.	.	.	X	278;278;484;278;278;252	.	ENSP00000337838:G484X	G	-	1	0	RTN4	55107289	0.993000	0.37304	0.994000	0.49952	0.992000	0.81027	3.318000	0.51975	2.879000	0.98667	0.650000	0.86243	GGA		0.388	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			44	88	1	0	2.26627e-22	0.007835	3.97563e-22	44	88				
PLEK	5341	broad.mit.edu	37	2	68622925	68622925	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:68622925A>C	ENST00000234313.7	+	9	1209	c.1030A>C	c.(1030-1032)Atg>Ctg	p.M344L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	344	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGCCATCCAGATGGCCTCCCG	0.542																																							uc002sen.3		NA																	0				ovary(1)	1						c.(1030-1032)ATG>CTG		pleckstrin							101.0	98.0	99.0					2																	68622925		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622925A>C	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.1030A>C	2.37:g.68622925A>C	ENSP00000234313:p.Met344Leu					PLEK_uc010fde.2_3'UTR	p.M344L	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1192	+		Ovarian(717;0.0129)	344			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.1030A>C	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	a	12.98	2.099972	0.37048	.	.	ENSG00000115956	ENST00000234313	T	0.74842	-0.88	5.65	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.632219	0.16716	N	0.202442	T	0.48132	0.1483	N	0.04090	-0.28	0.19575	N	0.999965	B	0.02656	0.0	B	0.06405	0.002	T	0.26985	-1.0087	10	0.27785	T	0.31	.	4.8347	0.13458	0.2241:0.0:0.6229:0.153	.	344	P08567	PLEK_HUMAN	L	344	ENSP00000234313:M344L	ENSP00000234313:M344L	M	+	1	0	PLEK	68476429	0.081000	0.21417	1.000000	0.80357	0.974000	0.67602	0.343000	0.19944	1.402000	0.46780	-0.252000	0.11476	ATG		0.542	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		4	52	0	0	0	0.009096	0	4	52				
FIGLA	344018	broad.mit.edu	37	2	71012617	71012617	+	Missense_Mutation	SNP	C	C	A	rs371010099		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:71012617C>A	ENST00000332372.6	-	3	543	c.539G>T	c.(538-540)gGt>gTt	p.G180V		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	180					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						TGCTGGCTCACCACTGCCACC	0.483																																							uc002she.1		NA																	0					0						c.(538-540)GGT>GTT		factor in the germline alpha							253.0	254.0	254.0					2																	71012617		2108	4223	6331	SO:0001583	missense	344018				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding	g.chr2:71012617C>A	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.539G>T	2.37:g.71012617C>A	ENSP00000333097:p.Gly180Val						p.G180V	NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN			3	544	-			180						Missense_Mutation	SNP	ENST00000332372.6	37	c.539G>T	CCDS46320.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131862	0.56828	.	.	ENSG00000183733	ENST00000332372	D	0.96041	-3.89	4.12	4.12	0.48240	.	0.543026	0.16850	N	0.196982	D	0.96018	0.8703	L	0.55481	1.735	0.46356	D	0.999007	D	0.76494	0.999	D	0.63597	0.916	D	0.94008	0.7281	10	0.33141	T	0.24	.	12.1887	0.54254	0.0:1.0:0.0:0.0	.	180	Q6QHK4	FIGLA_HUMAN	V	180	ENSP00000333097:G180V	ENSP00000333097:G180V	G	-	2	0	FIGLA	70866125	0.981000	0.34729	0.993000	0.49108	0.800000	0.45204	1.702000	0.37836	2.576000	0.86940	0.650000	0.86243	GGT		0.483	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		101	351	1	0	7.15876e-41	0.00361	1.36728e-40	101	351				
MCEE	84693	broad.mit.edu	37	2	71337190	71337190	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:71337190T>A	ENST00000244217.5	-	3	458	c.441A>T	c.(439-441)gaA>gaT	p.E147D	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	147					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTGACCTCTTCACTTAGAC	0.373																																							uc002shs.2		NA																	0				ovary(1)	1						c.(439-441)GAA>GAT		methylmalonyl CoA epimerase precursor							147.0	140.0	143.0					2																	71337190		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71337190T>A	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.441A>T	2.37:g.71337190T>A	ENSP00000244217:p.Glu147Asp						p.E147D	NM_032601	NP_115990	Q96PE7	MCEE_HUMAN			3	486	-			147					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.441A>T	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	T	7.372	0.627006	0.14257	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	D;T	0.83419	-1.72;0.63	5.84	-1.52	0.08637	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.155980	0.56097	N	0.000028	T	0.62073	0.2398	N	0.25094	0.71	0.37402	D	0.912868	B	0.02656	0.0	B	0.04013	0.001	T	0.38972	-0.9636	10	0.13108	T	0.6	-18.1507	3.9412	0.09328	0.1197:0.071:0.3503:0.459	.	147	Q96PE7	MCEE_HUMAN	D	49;147	ENSP00000391140:E49D;ENSP00000244217:E147D	ENSP00000244217:E147D	E	-	3	2	MCEE	71190698	1.000000	0.71417	0.972000	0.41901	0.913000	0.54294	1.039000	0.30266	-0.069000	0.12931	0.528000	0.53228	GAA		0.373	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		10	97	0	0	0	0.001368	0	10	97				
ACTG2	72	broad.mit.edu	37	2	74143844	74143844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:74143844G>T	ENST00000409624.1	+	9	1582	c.939G>T	c.(937-939)agG>agT	p.R313S	ACTG2_ENST00000345517.3_Missense_Mutation_p.R313S|ACTG2_ENST00000409731.3_Missense_Mutation_p.R270S			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	313					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TTGCTGACAGGATGCAGAAGG	0.498																																							uc002sjw.2		NA																	0					0						c.(937-939)AGG>AGT		actin, gamma 2 propeptide							106.0	91.0	96.0					2																	74143844		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74143844G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.939G>T	2.37:g.74143844G>T	ENSP00000386857:p.Arg313Ser					ACTG2_uc010fey.2_Missense_Mutation_p.R313S|ACTG2_uc010yrn.1_Missense_Mutation_p.R270S	p.R313S	NM_001615	NP_001606	P63267	ACTH_HUMAN			8	1061	+			313					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.939G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210747	0.39102	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.99338	-5.76;-5.76;-5.76	4.1	3.19	0.36642	.	0.000000	0.64402	D	0.000001	D	0.99606	0.9857	H	0.99752	4.75	0.37300	D	0.908659	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97920	1.0314	10	0.87932	D	0	.	4.1116	0.10062	0.2214:0.1946:0.584:0.0	.	270;313	E9PG30;P63267	.;ACTH_HUMAN	S	270;313;313	ENSP00000386929:R270S;ENSP00000295137:R313S;ENSP00000386857:R313S	ENSP00000295137:R313S	R	+	3	2	ACTG2	73997352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.985000	0.29578	1.044000	0.40200	0.467000	0.42956	AGG		0.498	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		54	40	1	0	2.25088e-17	0.00361	3.64694e-17	54	40				
CTNNA2	1496	broad.mit.edu	37	2	80085192	80085192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80085192G>T	ENST00000402739.4	+	3	357	c.352G>T	c.(352-354)Gta>Tta	p.V118L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V152L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V118L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	118					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTGCTCGTCGGTAAAGCGCGG	0.577																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(352-354)GTA>TTA		catenin, alpha 2 isoform 1							98.0	96.0	96.0					2																	80085192		2060	4192	6252	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085192G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.352G>T	2.37:g.80085192G>T	ENSP00000384638:p.Val118Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.V118L|CTNNA2_uc010ysf.1_Missense_Mutation_p.V118L|CTNNA2_uc010ysg.1_Missense_Mutation_p.V118L	p.V118L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	357	+			118					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.352G>T		.	.	.	.	.	.	.	.	.	.	G	17.70	3.453239	0.63290	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.67	5.67	0.87782	.	0.150425	0.44285	D	0.000461	T	0.31136	0.0787	L	0.28400	0.85	0.58432	D	0.999997	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.03784	-1.1004	10	0.27785	T	0.31	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	118;118;118	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	118;118;152;118;118;118	ENSP00000418191:V118L;ENSP00000419295:V118L;ENSP00000355398:V152L;ENSP00000384638:V118L;ENSP00000444675:V118L;ENSP00000441705:V118L	ENSP00000355398:V152L	V	+	1	0	CTNNA2	79938700	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	6.812000	0.75226	2.677000	0.91161	0.655000	0.94253	GTA		0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	90	1	0	1.06961e-07	0.00308	1.33771e-07	8	90				
CTNNA2	1496	broad.mit.edu	37	2	80101463	80101463	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80101463T>G	ENST00000402739.4	+	5	852	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V	CTNNA2_ENST00000361291.4_Missense_Mutation_p.F317V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.F283V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	283					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTTAATGAGTTTGACGTAAG	0.527																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(847-849)TTT>GTT		catenin, alpha 2 isoform 1							39.0	42.0	41.0					2																	80101463		1993	4163	6156	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101463T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.847T>G	2.37:g.80101463T>G	ENSP00000384638:p.Phe283Val					CTNNA2_uc010yse.1_Missense_Mutation_p.F283V|CTNNA2_uc010ysf.1_Missense_Mutation_p.F283V|CTNNA2_uc010ysg.1_Missense_Mutation_p.F283V	p.F283V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	852	+			283					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.847T>G		.	.	.	.	.	.	.	.	.	.	T	16.54	3.152213	0.57259	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.88031	2.925	0.80722	D	1	D;P;B	0.59357	0.985;0.576;0.359	D;B;B	0.65773	0.938;0.167;0.167	T	0.74996	-0.3473	10	0.56958	D	0.05	.	15.9971	0.80260	0.0:0.0:0.0:1.0	.	283;283;283	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	283;283;317;283;283;283	ENSP00000418191:F283V;ENSP00000419295:F283V;ENSP00000355398:F317V;ENSP00000384638:F283V;ENSP00000444675:F283V;ENSP00000441705:F283V	ENSP00000355398:F317V	F	+	1	0	CTNNA2	79954971	1.000000	0.71417	0.994000	0.49952	0.458000	0.32498	8.040000	0.89188	2.175000	0.68902	0.528000	0.53228	TTT		0.527	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		12	39	0	0	0	0.003163	0	12	39				
CTNNA2	1496	broad.mit.edu	37	2	80816542	80816542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80816542C>A	ENST00000402739.4	+	14	2126	c.2121C>A	c.(2119-2121)agC>agA	p.S707R	CTNNA2_ENST00000343114.3_Missense_Mutation_p.S386R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S741R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	707					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G708G(1)|p.S707R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGGACGACAGCGGCAATGATA	0.478																																							uc010ysh.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2119-2121)AGC>AGA		catenin, alpha 2 isoform 1							130.0	140.0	136.0					2																	80816542		2200	4300	6500	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816542C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2121C>A	2.37:g.80816542C>A	ENSP00000384638:p.Ser707Arg					CTNNA2_uc010yse.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysf.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysg.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysi.1_Missense_Mutation_p.S339R|CTNNA2_uc010ysj.1_Missense_Mutation_p.S36R	p.S707R	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2126	+			707					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2121C>A		.	.	.	.	.	.	.	.	.	.	C	14.73	2.621465	0.46736	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.97	-0.603	0.11630	.	0.090300	0.85682	D	0.000000	T	0.55481	0.1923	M	0.76574	2.34	0.48696	D	0.999697	B;P;B;B	0.46064	0.015;0.872;0.16;0.401	B;P;B;B	0.46510	0.029;0.519;0.201;0.385	T	0.60058	-0.7337	9	.	.	.	.	13.3528	0.60611	0.0:0.6126:0.0:0.3874	.	339;707;707;707	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	R	707;707;741;707;707;707;386	ENSP00000418191:S707R;ENSP00000419295:S707R;ENSP00000355398:S741R;ENSP00000384638:S707R;ENSP00000444675:S707R;ENSP00000441705:S707R;ENSP00000341500:S386R	.	S	+	3	2	CTNNA2	80670053	0.575000	0.26692	0.996000	0.52242	0.999000	0.98932	-0.197000	0.09518	-0.097000	0.12307	0.655000	0.94253	AGC		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		18	58	1	0	3.32936e-07	0.006122	4.06514e-07	18	58				
FABP1	2168	broad.mit.edu	37	2	88425740	88425740	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:88425740C>T	ENST00000295834.3	-	2	293	c.195G>A	c.(193-195)gtG>gtA	p.V65V	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.V65V	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	65					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ATTCCTCCCCCACCGTGAATT	0.532																																							uc002sst.1		NA																	0					0						c.(193-195)GTG>GTA		fatty acid binding protein 1, liver							312.0	265.0	280.0					2																	88425740		2203	4300	6503	SO:0001819	synonymous_variant	2168				organ morphogenesis			g.chr2:88425740C>T	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.195G>A	2.37:g.88425740C>T						FABP1_uc002ssu.2_Silent_p.V65V	p.V65V	NM_001443	NP_001434	P07148	FABPL_HUMAN			2	237	-			65						Silent	SNP	ENST00000295834.3	37	c.195G>A	CCDS2001.1																																																																																				0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		80	205	0	0	0	0.00361	0	80	205				
ZNF514	84874	broad.mit.edu	37	2	95818903	95818903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:95818903C>A	ENST00000295208.2	-	3	558	c.96G>T	c.(94-96)gaG>gaT	p.E32D	ZNF514_ENST00000411425.1_Missense_Mutation_p.E32D	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCCTGAAGTTCTCCAGCATCA	0.527																																							uc002sue.1		NA																	0					0						c.(94-96)GAG>GAT		zinc finger protein 514							99.0	93.0	95.0					2																	95818903		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818903C>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.96G>T	2.37:g.95818903C>A	ENSP00000295208:p.Glu32Asp					ZNF514_uc002sud.1_Missense_Mutation_p.E105D	p.E32D	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			3	470	-			32			KRAB.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.96G>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669639	0.67814	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000447814	T;T;T	0.03920	3.76;3.76;3.76	2.96	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.16557	0.0398	M	0.69523	2.12	0.22961	N	0.998501	D	0.62365	0.991	D	0.76071	0.987	T	0.02683	-1.1124	9	0.66056	D	0.02	.	7.6546	0.28369	0.0:0.861:0.0:0.139	.	32	Q96K75	ZN514_HUMAN	D	32;32;48	ENSP00000295208:E32D;ENSP00000405509:E32D;ENSP00000399647:E48D	ENSP00000295208:E32D	E	-	3	2	ZNF514	95182630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.167000	0.31847	1.663000	0.50791	0.655000	0.94253	GAG		0.527	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		39	39	1	0	1.04594e-18	0.00623	1.74768e-18	39	39				
VWA3B	200403	broad.mit.edu	37	2	98928447	98928447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:98928447C>A	ENST00000477737.1	+	27	3891	c.3687C>A	c.(3685-3687)caC>caA	p.H1229Q	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1229										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTCCTCCCACGGCATCAGCT	0.637																																							uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(3685-3687)CAC>CAA		von Willebrand factor A domain containing 3B							11.0	15.0	14.0					2																	98928447		1881	4087	5968	SO:0001583	missense	200403							g.chr2:98928447C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3687C>A	2.37:g.98928447C>A	ENSP00000417955:p.His1229Gln					VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.H886Q|VWA3B_uc002syp.1_Missense_Mutation_p.H621Q|VWA3B_uc002syq.1_Missense_Mutation_p.H505Q|VWA3B_uc002syr.1_Missense_Mutation_p.H546Q|VWA3B_uc002sys.2_RNA	p.H1229Q	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			27	3951	+			1229					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3687C>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	7.605	0.673660	0.14841	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.06768	3.26	4.1	-2.91	0.05631	.	.	.	.	.	T	0.04272	0.0118	N	0.22421	0.69	0.09310	N	1	B;B	0.21147	0.052;0.017	B;B	0.12156	0.007;0.003	T	0.45891	-0.9230	9	0.18276	T	0.48	.	4.4756	0.11733	0.1691:0.426:0.0:0.4049	.	621;1229	Q502W6-5;Q502W6	.;VWA3B_HUMAN	Q	1229;351	ENSP00000417955:H1229Q	ENSP00000351009:H351Q	H	+	3	2	VWA3B	98294879	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.385000	0.07379	-0.514000	0.06488	-0.339000	0.08088	CAC		0.637	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	8	1	0	0.00198382	0.001984	0.00212531	5	8				
LYG1	129530	broad.mit.edu	37	2	99901279	99901279	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:99901279G>T	ENST00000409448.1	-	7	654	c.338C>A	c.(337-339)cCt>cAt	p.P113H	LYG1_ENST00000308528.4_Missense_Mutation_p.P113H			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	113					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TTGAGAGCCAGGGTCCTGCAG	0.517																																							uc002szy.2		NA																	0					0						c.(337-339)CCT>CAT		lysozyme g-like protein 1 precursor							61.0	66.0	64.0					2																	99901279		2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99901279G>T	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.338C>A	2.37:g.99901279G>T	ENSP00000386923:p.Pro113His					MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.P113H	p.P113H	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN			6	588	-			113					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.338C>A	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412771	0.42817	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.55	3.63	0.41609	Lysozyme-like domain (1);	1.657580	0.03278	N	0.185800	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	P	0.42620	0.785	P	0.50378	0.639	T	0.42616	-0.9441	8	.	.	.	-1.1213	10.5536	0.45103	0.0:0.1951:0.8049:0.0	.	113	Q8N1E2	LYG1_HUMAN	H	113	.	.	P	-	2	0	LYG1	99267711	0.000000	0.05858	0.023000	0.16930	0.011000	0.07611	0.190000	0.17057	2.370000	0.80446	0.561000	0.74099	CCT		0.517	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		23	25	1	0	9.95505e-16	0.002299	1.55696e-15	23	25				
TBC1D8	11138	broad.mit.edu	37	2	101644861	101644861	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:101644861T>C	ENST00000376840.4	-	13	2210	c.2211A>G	c.(2209-2211)ccA>ccG	p.P737P	TBC1D8_ENST00000409318.1_Silent_p.P752P			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	737					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGGGGCCCTGGGCTGTCCT	0.557																																							uc010fiv.2		NA																	0				ovary(3)	3						c.(2209-2211)CCA>CCG		TBC1 domain family, member 8							80.0	90.0	87.0					2																	101644861		1981	4151	6132	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101644861T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2211A>G	2.37:g.101644861T>C						TBC1D8_uc002tau.3_Silent_p.P494P	p.P737P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			13	2342	-			737					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.2211A>G	CCDS46375.1																																																																																				0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		54	35	0	0	0	0.00361	0	54	35				
IL18RAP	8807	broad.mit.edu	37	2	103040797	103040797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:103040797G>T	ENST00000264260.2	+	5	1091	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G26W	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	168	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						cctacttcttgggagcactgg	0.443																																							uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(502-504)GGG>TGG		interleukin 18 receptor accessory protein							108.0	103.0	105.0					2																	103040797		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040797G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.502G>T	2.37:g.103040797G>T	ENSP00000264260:p.Gly168Trp					IL18RAP_uc010fiz.2_Missense_Mutation_p.G26W	p.G168W	NM_003853	NP_003844	O95256	I18RA_HUMAN			5	986	+			168			Ig-like C2-type 1.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.502G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323456	0.60634	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	D;D	0.85629	-2.01;-2.01	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.079510	0.53938	D	0.000047	D	0.91355	0.7273	M	0.69823	2.125	0.20563	N	0.999888	D	0.89917	1.0	D	0.91635	0.999	D	0.85149	0.0985	10	0.87932	D	0	.	14.6281	0.68638	0.0:0.0:1.0:0.0	.	168	O95256	I18RA_HUMAN	W	168;26	ENSP00000264260:G168W;ENSP00000387201:G26W	ENSP00000264260:G168W	G	+	1	0	IL18RAP	102407229	0.967000	0.33354	0.035000	0.18076	0.014000	0.08584	4.385000	0.59613	2.584000	0.87258	0.655000	0.94253	GGG		0.443	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		39	37	1	0	3.09479e-21	0.006999	5.38321e-21	39	37				
RGPD3	653489	broad.mit.edu	37	2	107073431	107073431	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:107073431A>T	ENST00000409886.3	-	4	488	c.401T>A	c.(400-402)cTa>cAa	p.L134Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.L134Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	134					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTTACCTTTAGTTTATAAAT	0.338																																							uc010ywi.1		NA																	0				ovary(1)	1						c.(400-402)CTA>CAA		RANBP2-like and GRIP domain containing 3							9.0	19.0	16.0					2																	107073431		618	1454	2072	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107073431A>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.401T>A	2.37:g.107073431A>T	ENSP00000386588:p.Leu134Gln						p.L134Q	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			4	458	-			134					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.401T>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.202908	0.38905	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.38887	1.11;1.11	2.59	2.59	0.31030	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.59770	0.2218	M	0.71581	2.175	0.30068	N	0.810327	D	0.71674	0.998	D	0.83275	0.996	T	0.56529	-0.7964	9	0.87932	D	0	-3.6422	8.687	0.34243	1.0:0.0:0.0:0.0	.	134	A6NKT7	RGPD3_HUMAN	Q	134;134;77	ENSP00000386588:L134Q;ENSP00000303659:L134Q	ENSP00000303659:L134Q	L	-	2	0	RGPD3	106439863	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	8.069000	0.89491	1.181000	0.42912	0.156000	0.16432	CTA		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		57	69	0	0	0	0.00361	0	57	69				
RGPD4	285190	broad.mit.edu	37	2	108499164	108499164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:108499164C>A	ENST00000408999.3	+	22	5178	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1701K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1701					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAGGAATCAAGAGCAAGA	0.408																																							uc010ywk.1		NA																	0				skin(2)	2						c.(5101-5103)CAA>AAA		RANBP2-like and GRIP domain containing 4							434.0	358.0	381.0					2																	108499164		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108499164C>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5101C>A	2.37:g.108499164C>A	ENSP00000386810:p.Gln1701Lys					RGPD4_uc002tdu.2_Missense_Mutation_p.Q888K|RGPD4_uc010ywl.1_RNA	p.Q1701K	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			22	5183	+			1701					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.5101C>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	6.719	0.501418	0.12822	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.39056	1.1;1.12	0.854	0.854	0.19007	.	.	.	.	.	T	0.33381	0.0861	L	0.53249	1.67	0.18873	N	0.999985	B	0.32409	0.37	B	0.20955	0.032	T	0.28713	-1.0035	9	0.87932	D	0	-8.2541	9.0795	0.36542	0.0:1.0:0.0:0.0	.	1701	Q7Z3J3	RGPD4_HUMAN	K	1701;1701;1068	ENSP00000347081:Q1701K;ENSP00000386810:Q1701K	ENSP00000347081:Q1701K	Q	+	1	0	RGPD4	107865596	1.000000	0.71417	0.978000	0.43139	0.418000	0.31294	5.329000	0.65892	0.767000	0.33267	0.398000	0.26397	CAA		0.408	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		25	101	1	0	6.32553e-13	0.004656	9.19498e-13	25	101				
SLC5A7	60482	broad.mit.edu	37	2	108626928	108626928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:108626928C>A	ENST00000264047.2	+	9	1630	c.1354C>A	c.(1354-1356)Cca>Aca	p.P452T	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P452T|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P347T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	452					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGAGGGGAGCCATATCTGTA	0.448																																							uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1354-1356)CCA>ACA		solute carrier family 5 (choline transporter),	Choline(DB00122)						108.0	107.0	107.0					2																	108626928		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626928C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1354C>A	2.37:g.108626928C>A	ENSP00000264047:p.Pro452Thr					SLC5A7_uc010ywm.1_Missense_Mutation_p.P205T|SLC5A7_uc010fjj.2_Missense_Mutation_p.P452T|SLC5A7_uc010ywn.1_Missense_Mutation_p.P339T	p.P452T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1630	+			452			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1354C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784759	0.70222	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92495	-2.79;-3.05;-2.79	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.92364	0.7577	M	0.75264	2.295	0.80722	D	1	P	0.38420	0.63	B	0.40602	0.334	D	0.89810	0.3981	10	0.15952	T	0.53	-18.934	20.4024	0.99000	0.0:1.0:0.0:0.0	.	452	Q9GZV3	SC5A7_HUMAN	T	452;347;452	ENSP00000387346:P452T;ENSP00000445351:P347T;ENSP00000264047:P452T	ENSP00000264047:P452T	P	+	1	0	SLC5A7	107993360	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CCA		0.448	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			20	54	1	0	1.36565e-18	0.00278	2.2766e-18	20	54				
SH3RF3	344558	broad.mit.edu	37	2	110015186	110015186	+	Silent	SNP	G	G	T	rs542535234		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:110015186G>T	ENST00000309415.6	+	4	1086	c.1086G>T	c.(1084-1086)gcG>gcT	p.A362A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	362							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTCAGGGGCGGTCAGTGCCT	0.632																																							uc010ywt.1		NA																	0				ovary(1)	1						c.(1084-1086)GCG>GCT		SH3 domain containing ring finger 3							40.0	47.0	45.0					2																	110015186		2203	4300	6503	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110015186G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1086G>T	2.37:g.110015186G>T							p.A362A	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1086	+			362					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1086G>T																																																																																					0.632	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		3	21	1	0	0.00024832	0.009096	0.00027355	3	21				
BUB1	699	broad.mit.edu	37	2	111431761	111431761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:111431761C>G	ENST00000302759.6	-	3	245	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	BUB1_ENST00000535254.1_Missense_Mutation_p.E23Q|BUB1_ENST00000409311.1_Missense_Mutation_p.E43Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	43	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCAAGTATTCTTTATTCTCA	0.289																																							uc002tgc.2		NA																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(127-129)GAA>CAA		budding uninhibited by benzimidazoles 1							63.0	66.0	65.0					2																	111431761		2188	4294	6482	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111431761C>G	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.127G>C	2.37:g.111431761C>G	ENSP00000302530:p.Glu43Gln					BUB1_uc010yxh.1_Missense_Mutation_p.E23Q|BUB1_uc010fkb.2_Missense_Mutation_p.E43Q|BUB1_uc002tgd.2_Missense_Mutation_p.E43Q	p.E43Q	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	3	239	-		Ovarian(717;0.0822)	43			BUB1 N-terminal.|Necessary for kinetochore localization.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.127G>C	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826517	0.32329	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.57	3.73	0.42828	Mad3/BUB1 homology region 1 (3);	0.872673	0.10316	N	0.689302	T	0.46678	0.1405	N	0.16790	0.44	0.28206	N	0.927159	B;B;B	0.32731	0.376;0.216;0.382	B;B;B	0.36134	0.218;0.042;0.069	T	0.39165	-0.9627	10	0.29301	T	0.29	-7.8721	8.679	0.34196	0.0:0.7606:0.1555:0.0839	.	23;43;43	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Q	23;43;43;43;34;34;34	ENSP00000441013:E23Q;ENSP00000386701:E43Q;ENSP00000302530:E43Q;ENSP00000402883:E34Q;ENSP00000409713:E34Q;ENSP00000392219:E34Q	ENSP00000302530:E43Q	E	-	1	0	BUB1	111148232	0.995000	0.38212	0.917000	0.36280	0.978000	0.69477	0.391000	0.20784	1.326000	0.45319	0.555000	0.69702	GAA		0.289	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		10	38	0	0	0	0.008291	0	10	38				
FBLN7	129804	broad.mit.edu	37	2	112922696	112922696	+	Missense_Mutation	SNP	C	C	A	rs200744418	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:112922696C>A	ENST00000331203.2	+	3	625	c.354C>A	c.(352-354)agC>agA	p.S118R	FBLN7_ENST00000409667.3_Missense_Mutation_p.S118R|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Missense_Mutation_p.S118R|FBLN7_ENST00000409450.3_Missense_Mutation_p.S118R	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	118	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGCCCAGCAGCGTGGTGTGTC	0.577																																							uc002tho.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(352-354)AGC>AGA		fibulin 7 isoform 1							87.0	82.0	84.0					2																	112922696		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112922696C>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.354C>A	2.37:g.112922696C>A	ENSP00000331411:p.Ser118Arg					FBLN7_uc002thn.2_Missense_Mutation_p.S118R|FBLN7_uc010fki.1_Missense_Mutation_p.S118R|FBLN7_uc010fkj.1_Missense_Mutation_p.S118R	p.S118R	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			3	625	+			118			Sushi.		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.354C>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147971	0.57151	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.36	-6.72	0.01755	Complement control module (2);Sushi/SCR/CCP (3);	0.106561	0.64402	D	0.000007	T	0.67664	0.2917	L	0.56396	1.775	0.26227	N	0.97908	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	D;P;D;D	0.74674	0.962;0.876;0.971;0.984	T	0.65907	-0.6054	10	0.18276	T	0.48	-24.4182	16.4417	0.83903	0.0:0.3262:0.0:0.6738	.	118;118;118;118	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	R	118	ENSP00000331411:S118R;ENSP00000386295:S118R;ENSP00000386822:S118R;ENSP00000387000:S118R	ENSP00000331411:S118R	S	+	3	2	FBLN7	112639167	0.001000	0.12720	0.773000	0.31616	0.980000	0.70556	-1.846000	0.01676	-1.422000	0.02004	-0.793000	0.03317	AGC		0.577	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		40	41	1	0	5.20837e-25	0.00874	9.44713e-25	40	41				
ZC3H6	376940	broad.mit.edu	37	2	113089870	113089870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:113089870G>T	ENST00000409871.1	+	12	3776	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.Q1125H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1125							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTAAGGTTCAGGTCCCAGCAG	0.567																																							uc002thq.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3373-3375)CAG>CAT		zinc finger CCCH-type domain containing 6							40.0	44.0	42.0					2																	113089870		2006	4163	6169	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089870G>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3375G>T	2.37:g.113089870G>T	ENSP00000386764:p.Gln1125His						p.Q1125H	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			12	3769	+			1125					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3375G>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543750	0.45280	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.15139	2.45;2.45	5.16	4.29	0.51040	.	1.308790	0.05022	N	0.472869	T	0.37019	0.0988	L	0.51422	1.61	0.30559	N	0.764695	D	0.71674	0.998	P	0.60173	0.87	T	0.17561	-1.0365	10	0.51188	T	0.08	-7.4645	13.6813	0.62487	0.0751:0.0:0.9249:0.0	.	1125	P61129	ZC3H6_HUMAN	H	1125	ENSP00000386764:Q1125H;ENSP00000340298:Q1125H	ENSP00000340298:Q1125H	Q	+	3	2	ZC3H6	112806341	1.000000	0.71417	0.968000	0.41197	0.943000	0.58893	4.067000	0.57527	1.166000	0.42689	0.655000	0.94253	CAG		0.567	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		11	26	1	0	1.58986e-06	0.008291	1.8947e-06	11	26				
POLR1B	84172	broad.mit.edu	37	2	113309351	113309351	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:113309351G>C	ENST00000263331.5	+	6	1342		c.e6-1		POLR1B_ENST00000541869.1_Splice_Site|POLR1B_ENST00000409894.3_Splice_Site|POLR1B_ENST00000537335.1_Splice_Site|POLR1B_ENST00000417433.2_Splice_Site	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa						gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTCTATTCTAGGCACTTGTCA	0.308																																					Ovarian(16;256 576 9537 23969 41147)	Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	0				ovary(1)	1						c.e6-1		RNA polymerase I polypeptide B isoform 1							72.0	74.0	73.0					2																	113309351		2203	4300	6503	SO:0001630	splice_region_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113309351G>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.763-1G>C	2.37:g.113309351G>C						POLR1B_uc010fkn.2_Splice_Site_p.A199_splice|POLR1B_uc002thx.2_Splice_Site_p.A116_splice|POLR1B_uc010fko.2_Splice_Site_p.A255_splice|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Splice_Site_p.A293_splice|POLR1B_uc002thy.2_Splice_Site_p.A116_splice|POLR1B_uc010yxo.1_Splice_Site_p.A32_splice	p.A255_splice	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			6	1343	+								B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Splice_Site	SNP	ENST00000263331.5	37	c.763_splice	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858790	0.71834	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4969	0.87720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR1B	113025822	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.779000	0.99018	2.502000	0.84385	0.591000	0.81541	.		0.308	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	Intron	26	36	0	0	0	0.004656	0	26	36				
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:125281979C>A	ENST00000431078.1	+	9	1788	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483																																							uc002tno.2		NA																	0				ovary(10)	10						c.(1423-1425)CCA>CAA		contactin associated protein-like 5 precursor							52.0	55.0	54.0					2																	125281979		1965	4179	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281979C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1424C>A	2.37:g.125281979C>A	ENSP00000399013:p.Pro475Gln					CNTNAP5_uc010flu.2_Missense_Mutation_p.P476Q	p.P475Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1788	+			475			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1424C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	0.384	-0.927100	0.02377	.	.	ENSG00000155052	ENST00000431078	T	0.79247	-1.25	5.95	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.427525	0.19599	N	0.110429	T	0.58836	0.2150	N	0.14661	0.345	0.32532	N	0.534812	B	0.02656	0.0	B	0.06405	0.002	T	0.54057	-0.8350	10	0.11485	T	0.65	.	11.5386	0.50653	0.6514:0.3486:0.0:0.0	.	475	Q8WYK1	CNTP5_HUMAN	Q	475	ENSP00000399013:P475Q	ENSP00000399013:P475Q	P	+	2	0	CNTNAP5	124998449	0.518000	0.26234	0.928000	0.36995	0.010000	0.07245	1.475000	0.35409	0.478000	0.27488	-0.274000	0.10170	CCA		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	22	1	0	8.12818e-05	0.001984	9.09297e-05	7	22				
CNTNAP5	129684	broad.mit.edu	37	2	125284970	125284970	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:125284970T>A	ENST00000431078.1	+	10	1947	c.1583T>A	c.(1582-1584)gTt>gAt	p.V528D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	528	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCATTTCAGTTCAGCAAGGT	0.438																																							uc002tno.2		NA																	0				ovary(10)	10						c.(1582-1584)GTT>GAT		contactin associated protein-like 5 precursor							142.0	137.0	138.0					2																	125284970		1878	4109	5987	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284970T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1583T>A	2.37:g.125284970T>A	ENSP00000399013:p.Val528Asp					CNTNAP5_uc010flu.2_Missense_Mutation_p.V529D	p.V528D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1947	+			528			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1583T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851754	0.71719	.	.	ENSG00000155052	ENST00000431078	D	0.88818	-2.43	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.38005	N	0.001856	D	0.94532	0.8239	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95165	0.8285	10	0.72032	D	0.01	.	14.6373	0.68699	0.0:0.0:0.0:1.0	.	528	Q8WYK1	CNTP5_HUMAN	D	528	ENSP00000399013:V528D	ENSP00000399013:V528D	V	+	2	0	CNTNAP5	125001440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.437000	0.80417	2.052000	0.61016	0.528000	0.53228	GTT		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	62	0	0	0	0.004482	0	8	62				
GPR148	344561	broad.mit.edu	37	2	131487721	131487721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:131487721G>T	ENST00000309926.4	+	1	1079	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGTCCGGGGCCACCTCCC	0.542																																							uc002trv.1		NA																	0				skin(1)	1						c.(997-999)GGC>TGC		G protein-coupled receptor 148							34.0	32.0	33.0					2																	131487721		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487721G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.997G>T	2.37:g.131487721G>T	ENSP00000308908:p.Gly333Cys						p.G333C	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	999	+	Colorectal(110;0.1)		333			Cytoplasmic (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.997G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	6.351	0.432944	0.12045	.	.	ENSG00000173302	ENST00000309926	T	0.37584	1.19	2.43	0.577	0.17385	GPCR, rhodopsin-like superfamily (1);	0.759348	0.10566	U	0.659658	T	0.21468	0.0517	N	0.24115	0.695	0.09310	N	1	B	0.25667	0.131	B	0.20955	0.032	T	0.22556	-1.0213	10	0.72032	D	0.01	-0.6208	4.7411	0.13013	0.2992:0.0:0.7008:0.0	.	333	Q8TDV2	GP148_HUMAN	C	333	ENSP00000308908:G333C	ENSP00000308908:G333C	G	+	1	0	GPR148	131204191	0.203000	0.23435	0.001000	0.08648	0.026000	0.11368	0.634000	0.24614	0.141000	0.18875	0.556000	0.70494	GGC		0.542	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		11	14	1	0	3.86212e-05	0.008291	4.37828e-05	11	14				
LCT	3938	broad.mit.edu	37	2	136575089	136575089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:136575089C>A	ENST00000264162.2	-	6	1539	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	510	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCATTCTGCCATCCACCATG	0.587																																							uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1528-1530)TGG>TTG		lactase-phlorizin hydrolase preproprotein							105.0	91.0	96.0					2																	136575089		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575089C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1529G>T	2.37:g.136575089C>A	ENSP00000264162:p.Trp510Leu						p.W510L	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1540	-			510			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1529G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842131	0.71488	.	.	ENSG00000115850	ENST00000264162	T	0.39997	1.05	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72228	-0.4354	10	0.87932	D	0	-11.1795	19.7399	0.96223	0.0:1.0:0.0:0.0	.	510	P09848	LPH_HUMAN	L	510	ENSP00000264162:W510L	ENSP00000264162:W510L	W	-	2	0	LCT	136291559	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	6.027000	0.70881	2.736000	0.93811	0.561000	0.74099	TGG		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		14	36	1	0	3.27435e-08	0.00245	4.14541e-08	14	36				
LRP1B	53353	broad.mit.edu	37	2	142012104	142012104	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:142012104C>A	ENST00000389484.3	-	4	1421	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	150	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCTTCTCCCATCTTCTG	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	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.(448-450)GGG>GGT		low density lipoprotein-related protein 1B							202.0	192.0	195.0					2																	142012104		2201	4297	6498	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142012104C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.450G>T	2.37:g.142012104C>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G150G	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)	4	1422	-		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)	150			Extracellular (Potential).|EGF-like 1.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.450G>T	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	34	1	0	3.8784e-16	0.001882	6.12558e-16	20	34				
KYNU	8942	broad.mit.edu	37	2	143685264	143685264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:143685264G>T	ENST00000410015.2	+	4	417	c.327G>T	c.(325-327)tgG>tgT	p.W109C	KYNU_ENST00000375773.2_Missense_Mutation_p.W109C|KYNU_ENST00000409512.1_Missense_Mutation_p.W109C|KYNU_ENST00000264170.4_Missense_Mutation_p.W109C					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGCGTCCTTGGATTACAGGAG	0.358																																							uc002tvl.2		NA																	0				skin(2)	2						c.(325-327)TGG>TGT		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						207.0	194.0	198.0					2																	143685264		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143685264G>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.327G>T	2.37:g.143685264G>T	ENSP00000387296:p.Trp109Cys					KYNU_uc002tvk.2_Missense_Mutation_p.W109C|KYNU_uc010fnm.2_Missense_Mutation_p.W109C	p.W109C	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	4	457	+			109						Missense_Mutation	SNP	ENST00000410015.2	37	c.327G>T		.	.	.	.	.	.	.	.	.	.	G	18.93	3.727641	0.69074	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.55588	0.51;0.51;0.51	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.999;0.977	D;P	0.76575	0.988;0.719	T	0.82940	-0.0208	10	0.87932	D	0	.	16.9558	0.86259	0.0:0.0:1.0:0.0	.	109;109	Q16719;Q9BVW3	KYNU_HUMAN;.	C	109	ENSP00000264170:W109C;ENSP00000364928:W109C;ENSP00000386731:W109C	ENSP00000264170:W109C	W	+	3	0	KYNU	143401734	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.073000	0.71245	2.792000	0.96026	0.557000	0.71058	TGG		0.358	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		24	103	1	0	1.77063e-15	0.005443	2.75432e-15	24	103				
ZEB2	9839	broad.mit.edu	37	2	145157509	145157509	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:145157509A>T	ENST00000558170.2	-	8	2429	c.1245T>A	c.(1243-1245)ttT>ttA	p.F415L	ZEB2_ENST00000303660.4_Missense_Mutation_p.F415L|ZEB2_ENST00000539609.3_Missense_Mutation_p.F391L|ZEB2_ENST00000409487.3_Missense_Mutation_p.F415L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	415					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACCATTCATAAAGGGACTAG	0.453																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1243-1245)TTT>TTA		zinc finger homeobox 1b							72.0	77.0	75.0					2																	145157509		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157509A>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1245T>A	2.37:g.145157509A>T	ENSP00000454157:p.Phe415Leu					ZEB2_uc002tvv.2_Missense_Mutation_p.F409L|ZEB2_uc010zbm.1_Missense_Mutation_p.F386L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.F444L	p.F415L	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1725	-			415					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1245T>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	2.275	-0.366109	0.05069	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.10763	2.86;2.84;2.84;2.96;2.85	5.64	3.31	0.37934	.	0.088971	0.85682	D	0.000000	T	0.11281	0.0275	N	0.16743	0.435	0.53688	D	0.999975	B;P;P;P	0.52842	0.006;0.956;0.956;0.628	B;D;D;B	0.65010	0.024;0.931;0.931;0.206	T	0.25467	-1.0131	10	0.05620	T	0.96	-9.5708	7.6958	0.28594	0.7094:0.0:0.2906:0.0	.	391;280;414;415	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	391;415;415;415;415	ENSP00000443792:F391L;ENSP00000302501:F415L;ENSP00000386854:F415L;ENSP00000395496:F415L;ENSP00000376601:F415L	ENSP00000302501:F415L	F	-	3	2	ZEB2	144873979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.771000	0.38542	0.975000	0.38392	0.533000	0.62120	TTT		0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	43	0	0	0	0.006214	0	9	43				
ZEB2	9839	broad.mit.edu	37	2	145157512	145157512	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:145157512G>A	ENST00000558170.2	-	8	2426	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	ZEB2_ENST00000303660.4_Silent_p.P414P|ZEB2_ENST00000539609.3_Silent_p.P390P|ZEB2_ENST00000409487.3_Silent_p.P414P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCATAAAGGGACTAGTGC	0.453																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1240-1242)CCC>CCT		zinc finger homeobox 1b							74.0	78.0	77.0					2																	145157512		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157512G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1242C>T	2.37:g.145157512G>A						ZEB2_uc002tvv.2_Silent_p.P408P|ZEB2_uc010zbm.1_Silent_p.P385P|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.P443P	p.P414P	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1722	-			414					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.1242C>T	CCDS2186.1																																																																																				0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	45	0	0	0	0.006214	0	10	45				
NEB	4703	broad.mit.edu	37	2	152404226	152404226	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:152404226T>A	ENST00000172853.10	-	104	15228	c.15081A>T	c.(15079-15081)aaA>aaT	p.K5027N	NEB_ENST00000409198.1_Missense_Mutation_p.K5027N|NEB_ENST00000397345.3_Missense_Mutation_p.K6728N|NEB_ENST00000603639.1_Missense_Mutation_p.K6728N|NEB_ENST00000604864.1_Missense_Mutation_p.K6728N|NEB_ENST00000427231.2_Missense_Mutation_p.K6728N			P20929	NEBU_HUMAN	nebulin	5027					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)		TGTCTTTCAGTTTGTGGTACA	0.443																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15079-15081)AAA>AAT		nebulin isoform 3							150.0	135.0	139.0					2																	152404226		1890	4133	6023	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.chr2:152404226T>A	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.15081A>T	2.37:g.152404226T>A	ENSP00000172853:p.Lys5027Asn					NEB_uc002txr.2_Missense_Mutation_p.K1450N	p.K5027N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	104	15272	-			5027			Nebulin 137.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15081A>T		.	.	.	.	.	.	.	.	.	.	T	23.6	4.435756	0.83885	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.14893	2.7;2.6;2.6;2.47;2.7	5.86	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.958	D;D	0.87578	0.998;0.943	T	0.01753	-1.1281	10	0.66056	D	0.02	.	7.1852	0.25795	0.0:0.3698:0.0:0.6302	.	5027;1458	P20929;Q14215	NEBU_HUMAN;.	N	5027;6728;6728;1076;1458;5027	ENSP00000386259:K5027N;ENSP00000380505:K6728N;ENSP00000416578:K6728N;ENSP00000410961:K1458N;ENSP00000172853:K5027N	ENSP00000172853:K5027N	K	-	3	2	NEB	152112472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.837000	0.27558	0.492000	0.27815	0.528000	0.53228	AAA		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	19	0	0	0	0.00245	0	13	19				
NEB	4703	broad.mit.edu	37	2	152410485	152410485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:152410485C>A	ENST00000172853.10	-	98	14527	c.14380G>T	c.(14380-14382)Gac>Tac	p.D4794Y	NEB_ENST00000409198.1_Missense_Mutation_p.D4794Y|NEB_ENST00000397345.3_Missense_Mutation_p.D6495Y|NEB_ENST00000603639.1_Missense_Mutation_p.D6495Y|NEB_ENST00000604864.1_Missense_Mutation_p.D6495Y|NEB_ENST00000427231.2_Missense_Mutation_p.D6495Y			P20929	NEBU_HUMAN	nebulin	4794					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)		TCTACCATGTCGGGCACGATG	0.453																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(14380-14382)GAC>TAC		nebulin isoform 3							186.0	179.0	181.0					2																	152410485		1945	4138	6083	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.chr2:152410485C>A	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.14380G>T	2.37:g.152410485C>A	ENSP00000172853:p.Asp4794Tyr					NEB_uc002txr.2_Missense_Mutation_p.D1217Y	p.D4794Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	98	14571	-			4794			Nebulin 131.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.14380G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.561911	0.86335	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82571	-0.0391	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	4794;1225	P20929;Q14215	NEBU_HUMAN;.	Y	4794;6495;6495;843;1225;4794	ENSP00000386259:D4794Y;ENSP00000380505:D6495Y;ENSP00000416578:D6495Y;ENSP00000410961:D1225Y;ENSP00000172853:D4794Y	ENSP00000172853:D4794Y	D	-	1	0	NEB	152118731	1.000000	0.71417	0.989000	0.46669	0.838000	0.47535	7.288000	0.78691	2.572000	0.86782	0.655000	0.94253	GAC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	91	1	0	6.32553e-13	0.004656	9.19498e-13	26	91				
GALNT13	114805	broad.mit.edu	37	2	155115595	155115595	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:155115595A>T	ENST00000392825.3	+	8	1486	c.919A>T	c.(919-921)Act>Tct	p.T307S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.T307S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	307	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAGATAGGAACTTACGATGC	0.343																																							uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(919-921)ACT>TCT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							135.0	142.0	139.0					2																	155115595		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155115595A>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.919A>T	2.37:g.155115595A>T	ENSP00000376570:p.Thr307Ser					GALNT13_uc002tyt.3_Missense_Mutation_p.T307S|GALNT13_uc010foc.1_Missense_Mutation_p.T126S|GALNT13_uc010fod.2_Missense_Mutation_p.T60S	p.T307S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			8	1486	+			307			Catalytic subdomain B.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.919A>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	A	9.402	1.078163	0.20227	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.58797	0.31;0.31	5.85	4.5	0.54988	.	0.138666	0.64402	D	0.000004	T	0.28001	0.0690	N	0.03967	-0.31	0.43540	D	0.99583	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.002;0.0	T	0.17077	-1.0381	10	0.10902	T	0.67	.	8.0344	0.30484	0.796:0.0:0.0775:0.1264	.	307;307;307;307	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	S	307	ENSP00000376570:T307S;ENSP00000387239:T307S	ENSP00000376570:T307S	T	+	1	0	GALNT13	154823841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.279000	0.65597	2.237000	0.73441	0.528000	0.53228	ACT		0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		15	101	0	0	0	0.006122	0	15	101				
NR4A2	4929	broad.mit.edu	37	2	157186008	157186008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:157186008C>A	ENST00000339562.4	-	3	1053	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	NR4A2_ENST00000409108.2_Missense_Mutation_p.G231C|NR4A2_ENST00000409572.1_Missense_Mutation_p.G231C|NR4A2_ENST00000429376.1_Missense_Mutation_p.G168C|NR4A2_ENST00000426264.1_Missense_Mutation_p.G168C|NR4A2_ENST00000539077.1_Missense_Mutation_p.G242C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	231	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCCGGGAAGCCCATGGACGCG	0.721																																							uc002tyz.3		NA																	0				ovary(3)	3						c.(691-693)GGC>TGC		nuclear receptor subfamily 4, group A, member 2							17.0	21.0	20.0					2																	157186008		2197	4299	6496	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186008C>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.691G>T	2.37:g.157186008C>A	ENSP00000344479:p.Gly231Cys					NR4A2_uc002tyx.3_Missense_Mutation_p.G168C|NR4A2_uc010zcf.1_Missense_Mutation_p.G231C|NR4A2_uc010zcg.1_5'Flank	p.G231C	NM_006186	NP_006177	P43354	NR4A2_HUMAN			3	1113	-			231			Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.691G>T	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684505	0.68157	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077	D;D;D;D;D;D;T	0.92048	-2.76;-2.8;-2.76;-2.77;-2.96;-2.87;-1.21	5.72	5.72	0.89469	.	25.057100	0.00166	N	0.000000	D	0.91945	0.7449	L	0.40543	1.245	0.51233	D	0.999912	B	0.06786	0.001	B	0.08055	0.003	T	0.62201	-0.6904	10	0.54805	T	0.06	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	231	P43354	NR4A2_HUMAN	C	231;168;231;242;231;168;231	ENSP00000344479:G231C;ENSP00000389986:G168C;ENSP00000386747:G231C;ENSP00000444925:G242C;ENSP00000386993:G231C;ENSP00000410952:G168C;ENSP00000406808:G231C	ENSP00000344479:G231C	G	-	1	0	NR4A2	156894254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.871000	0.63042	2.691000	0.91804	0.655000	0.94253	GGC		0.721	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			9	17	1	0	2.17888e-05	0.006214	2.49757e-05	9	17				
PKP4	8502	broad.mit.edu	37	2	159519545	159519545	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:159519545C>T	ENST00000389759.3	+	14	2460	c.2348C>T	c.(2347-2349)cCa>cTa	p.P783L	PKP4_ENST00000389757.3_Missense_Mutation_p.P783L|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	783					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACTCTGAGCCAAGTTGCTGG	0.448										HNSCC(62;0.18)																													uc002tzv.2		NA																	0				ovary(5)|skin(2)	7						c.(2347-2349)CCA>CTA		plakophilin 4 isoform a							38.0	42.0	41.0					2																	159519545		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519545C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2348C>T	2.37:g.159519545C>T	ENSP00000374409:p.Pro783Leu	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.P635L|PKP4_uc002tzu.2_Missense_Mutation_p.P783L|PKP4_uc002tzw.2_Missense_Mutation_p.P783L|PKP4_uc002tzx.2_Missense_Mutation_p.P440L|PKP4_uc002tzy.1_Missense_Mutation_p.P441L|PKP4_uc002uaa.2_Missense_Mutation_p.P635L|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR	p.P783L	NM_003628	NP_003619	Q99569	PKP4_HUMAN			14	2608	+			783					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2348C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552071	0.45487	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.79352	-1.26;-1.26	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.064498	0.64402	D	0.000003	T	0.58963	0.2159	N	0.03983	-0.305	0.58432	D	0.999999	B;P;B	0.35348	0.066;0.496;0.224	B;B;B	0.30401	0.021;0.115;0.021	T	0.63051	-0.6723	10	0.38643	T	0.18	-13.2098	19.6895	0.95993	0.0:1.0:0.0:0.0	.	738;783;783	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	L	783	ENSP00000374407:P783L;ENSP00000374409:P783L	ENSP00000374407:P783L	P	+	2	0	PKP4	159227791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.701000	0.61810	2.644000	0.89710	0.591000	0.81541	CCA		0.448	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			27	34	0	0	0	0.002445	0	27	34				
FAP	2191	broad.mit.edu	37	2	163039931	163039931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:163039931C>A	ENST00000188790.4	-	21	2069	c.1862G>T	c.(1861-1863)tGg>tTg	p.W621L	FAP_ENST00000443424.1_Missense_Mutation_p.W596L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACCCAGCCCCATATGGCTAT	0.294																																							uc002ucd.2		NA																	0				ovary(3)	3						c.(1861-1863)TGG>TTG		fibroblast activation protein, alpha subunit							87.0	95.0	92.0					2																	163039931		2203	4299	6502	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039931C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1862G>T	2.37:g.163039931C>A	ENSP00000188790:p.Trp621Leu					FAP_uc010fpc.2_Missense_Mutation_p.W170L|FAP_uc010zct.1_Missense_Mutation_p.W596L|FAP_uc010fpd.2_Missense_Mutation_p.W100L	p.W621L	NM_004460	NP_004451	Q12884	SEPR_HUMAN			21	2070	-			621			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1862G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187791	0.78789	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.40225	1.04;1.04	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	0.971;1.0;1.0	D;D;D	0.87578	0.921;0.997;0.998	D	0.83501	0.0075	10	0.87932	D	0	-29.4425	19.9507	0.97198	0.0:1.0:0.0:0.0	.	596;100;621	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	L	621;596	ENSP00000188790:W621L;ENSP00000411391:W596L	ENSP00000188790:W621L	W	-	2	0	FAP	162748177	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.309000	0.78937	2.763000	0.94921	0.655000	0.94253	TGG		0.294	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			51	56	1	0	9.77497e-20	0.00361	1.6544e-19	51	56				
SCN3A	6328	broad.mit.edu	37	2	165956881	165956881	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:165956881G>T	ENST00000360093.3	-	22	4388	c.3897C>A	c.(3895-3897)gcC>gcA	p.A1299A	SCN3A_ENST00000283254.7_Silent_p.A1299A|SCN3A_ENST00000409101.3_Silent_p.A1250A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1299					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATTTGATGGCACCGAGTT	0.383																																							uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3895-3897)GCC>GCA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						69.0	67.0	68.0					2																	165956881		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165956881G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3897C>A	2.37:g.165956881G>T						SCN3A_uc002ucy.2_Silent_p.A1250A|SCN3A_uc002ucz.2_Silent_p.A1250A|SCN3A_uc002uda.1_Silent_p.A1119A|SCN3A_uc002udb.1_Silent_p.A1119A	p.A1299A	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			22	4389	-			1299			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.3897C>A																																																																																					0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		18	83	1	0	8.00594e-06	0.007413	9.31013e-06	18	83				
XIRP2	129446	broad.mit.edu	37	2	168105807	168105807	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:168105807A>C	ENST00000409195.1	+	9	7994	c.7905A>C	c.(7903-7905)gaA>gaC	p.E2635D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2413D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2635D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2460					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCGCCAGAAACAGTCGCTG	0.443																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7903-7905)GAA>GAC		xin actin-binding repeat containing 2 isoform 1							72.0	71.0	72.0					2																	168105807		1919	4138	6057	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105807A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7905A>C	2.37:g.168105807A>C	ENSP00000386840:p.Glu2635Asp					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2460D|XIRP2_uc010fpq.2_Missense_Mutation_p.E2413D|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.E2635D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7923	+			2460					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7905A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	1.123	-0.654744	0.03480	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02552	4.25;4.25;4.25	6.07	-0.192	0.13248	.	0.710802	0.13955	N	0.351217	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B;B;B	0.14805	0.003;0.011;0.011	B;B;B	0.19666	0.012;0.026;0.026	T	0.49597	-0.8923	10	0.14656	T	0.56	-0.3218	6.1755	0.20441	0.4486:0.1253:0.4262:0.0	.	2460;2460;2413	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	2635;2635;2413;49	ENSP00000386840:E2635D;ENSP00000295237:E2635D;ENSP00000387255:E2413D	ENSP00000295237:E2635D	E	+	3	2	XIRP2	167814053	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.190000	0.17057	-0.328000	0.08539	-1.814000	0.00607	GAA		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	65	0	0	0	0.00278	0	22	65				
G6PC2	57818	broad.mit.edu	37	2	169764389	169764389	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169764389C>T	ENST00000375363.3	+	5	960	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	290					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TAACTACACACTGAGCTTCCG	0.498																																							uc002uem.2		NA																	0				pancreas(1)	1						c.(868-870)CTG>TTG		islet-specific glucose-6-phosphatase-related							122.0	117.0	118.0					2																	169764389		2203	4300	6503	SO:0001819	synonymous_variant	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764389C>T	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.868C>T	2.37:g.169764389C>T						G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Silent_p.L174L	p.L290L	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	960	+			290			Cytoplasmic (Potential).		E9PAX2|Q6AHZ0	Silent	SNP	ENST00000375363.3	37	c.868C>T	CCDS2230.1																																																																																				0.498	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		15	94	0	0	0	0.00245	0	15	94				
ABCB11	8647	broad.mit.edu	37	2	169780256	169780256	+	Missense_Mutation	SNP	T	T	C	rs373615768		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169780256T>C	ENST00000263817.6	-	28	3966	c.3842A>G	c.(3841-3843)cAg>cGg	p.Q1281R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATCCGCGTTCTGGATGGTGGA	0.512																																							uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3841-3843)CAG>CGG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						142.0	142.0	142.0					2																	169780256		2122	4267	6389	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169780256T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3842A>G	2.37:g.169780256T>C	ENSP00000263817:p.Gln1281Arg					ABCB11_uc010zda.1_Missense_Mutation_p.Q699R|ABCB11_uc010zdb.1_Missense_Mutation_p.Q757R	p.Q1281R	NM_003742	NP_003733	O95342	ABCBB_HUMAN			28	3968	-			1281			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3842A>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707662	0.48412	.	.	ENSG00000073734	ENST00000263817	T	0.80480	-1.38	5.86	3.38	0.38709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.101747	0.64402	N	0.000001	T	0.59609	0.2206	N	0.03154	-0.405	0.51767	D	0.999935	B;B	0.10296	0.003;0.001	B;B	0.10450	0.003;0.005	T	0.51585	-0.8687	10	0.49607	T	0.09	.	10.216	0.43168	0.0:0.1409:0.0:0.8591	.	699;1281	B4DZQ8;O95342	.;ABCBB_HUMAN	R	1281	ENSP00000263817:Q1281R	ENSP00000263817:Q1281R	Q	-	2	0	ABCB11	169488502	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.523000	0.53488	0.430000	0.26230	-0.260000	0.10688	CAG		0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		22	48	0	0	0	0.001882	0	22	48				
ABCB11	8647	broad.mit.edu	37	2	169824975	169824975	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169824975C>T	ENST00000263817.6	-	17	2161	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	679					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TAAAGGTCCTCGCAAGCATGT	0.398																																							uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2035-2037)GCG>GCA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						104.0	94.0	97.0					2																	169824975		1886	4135	6021	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169824975C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2037G>A	2.37:g.169824975C>T						ABCB11_uc010zda.1_Silent_p.A121A|ABCB11_uc010zdb.1_Silent_p.A155A	p.A679A	NM_003742	NP_003733	O95342	ABCBB_HUMAN			17	2163	-			679			Cytoplasmic (Potential).		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.2037G>A	CCDS46444.1																																																																																				0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		11	10	0	0	0	0.001368	0	11	10				
LRP2	4036	broad.mit.edu	37	2	170063588	170063588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:170063588C>A	ENST00000263816.3	-	39	6927	c.6642G>T	c.(6640-6642)aaG>aaT	p.K2214N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2214					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACGCTCAATCTTTGGTCTCT	0.502																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6640-6642)AAG>AAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						181.0	164.0	170.0					2																	170063588		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063588C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6642G>T	2.37:g.170063588C>A	ENSP00000263816:p.Lys2214Asn						p.K2214N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6855	-			2214			LDL-receptor class B 22.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6642G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304250	0.60305	.	.	ENSG00000081479	ENST00000263816	D	0.94862	-3.54	5.98	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95971	0.8970	10	0.32370	T	0.25	.	7.7833	0.29077	0.0:0.7269:0.1378:0.1354	.	2214	P98164	LRP2_HUMAN	N	2214	ENSP00000263816:K2214N	ENSP00000263816:K2214N	K	-	3	2	LRP2	169771834	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.980000	0.40618	1.518000	0.48934	-0.181000	0.13052	AAG		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		66	140	1	0	3.13296e-38	0.00361	5.95222e-38	66	140				
PDE11A	50940	broad.mit.edu	37	2	178769854	178769854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:178769854C>G	ENST00000286063.6	-	3	1449	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.A20P|PDE11A_ENST00000358450.4_Missense_Mutation_p.A128P|PDE11A_ENST00000449286.2_Missense_Mutation_p.A20P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	378					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTCCTTGAGGCAGCAAAGAGC	0.363									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1132-1134)GCC>CCC		phosphodiesterase 11A isoform 4							130.0	116.0	121.0					2																	178769854		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178769854C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1132G>C	2.37:g.178769854C>G	ENSP00000286063:p.Ala378Pro					PDE11A_uc002ulr.2_Missense_Mutation_p.A128P|PDE11A_uc002uls.1_Missense_Mutation_p.A20P|PDE11A_uc002ult.1_Missense_Mutation_p.A128P|PDE11A_uc002ulu.1_Missense_Mutation_p.A20P	p.A378P	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		3	1450	-			378					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1132G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634136	0.67130	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286	T;T;T;T	0.70282	-0.47;-0.47;-0.25;-0.25	5.36	5.36	0.76844	GAF (1);	0.104235	0.64402	D	0.000003	T	0.67163	0.2864	N	0.14661	0.345	0.80722	D	1	P;P	0.51147	0.942;0.824	P;B	0.52758	0.708;0.327	T	0.67393	-0.5682	10	0.32370	T	0.25	.	19.0924	0.93233	0.0:1.0:0.0:0.0	.	128;378	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	P	378;128;20;53;20	ENSP00000286063:A378P;ENSP00000351232:A128P;ENSP00000386539:A20P;ENSP00000390599:A20P	ENSP00000286063:A378P	A	-	1	0	PDE11A	178478100	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.437000	0.80417	2.513000	0.84729	0.563000	0.77884	GCC		0.363	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			17	52	0	0	0	0.007413	0	17	52				
TTN	7273	broad.mit.edu	37	2	179408970	179408970	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179408970A>G	ENST00000591111.1	-	295	91287	c.91063T>C	c.(91063-91065)Tac>Cac	p.Y30355H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y22931H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y23123H|TTN_ENST00000589042.1_Missense_Mutation_p.Y31996H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y23056H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y29428H|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30355	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCGCTGTATTCGCTCATA	0.403																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(88282-88284)TAC>CAC		titin isoform N2-A							89.0	84.0	85.0					2																	179408970		1876	4110	5986	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408970A>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.91063T>C	2.37:g.179408970A>G	ENSP00000465570:p.Tyr30355His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y23123H|TTN_uc010zfi.1_Missense_Mutation_p.Y23056H|TTN_uc010zfj.1_Missense_Mutation_p.Y22931H	p.Y29428H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88506	-			30355					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.88282T>C		.	.	.	.	.	.	.	.	.	.	A	15.36	2.810206	0.50421	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.17	5.02	0.67125	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47764	0.1463	L	0.46741	1.465	0.36679	D	0.878939	B;B;B;B	0.18461	0.028;0.013;0.013;0.028	B;B;B;B	0.19946	0.027;0.007;0.007;0.027	T	0.52801	-0.8527	9	0.87932	D	0	.	12.4759	0.55814	0.935:0.0:0.065:0.0	.	22931;23056;23123;30355	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29428;22931;23123;23056;22928	ENSP00000343764:Y29428H;ENSP00000434586:Y22931H;ENSP00000340554:Y23123H;ENSP00000352154:Y23056H	ENSP00000340554:Y23123H	Y	-	1	0	TTN	179117216	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.339000	0.96797	1.144000	0.42321	0.533000	0.62120	TAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	57	0	0	0	0.001368	0	13	57				
TTN	7273	broad.mit.edu	37	2	179434111	179434111	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179434111A>G	ENST00000591111.1	-	276	72049	c.71825T>C	c.(71824-71826)tTa>tCa	p.L23942S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L16518S|TTN_ENST00000342175.6_Missense_Mutation_p.L16710S|TTN_ENST00000589042.1_Missense_Mutation_p.L25583S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16643S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23015S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23942	Ig-like 120.				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)			GCTGTTTTCTAATGTAAGCGT	0.413																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(69043-69045)TTA>TCA		titin isoform N2-A							113.0	107.0	109.0					2																	179434111		1880	4107	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434111A>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.71825T>C	2.37:g.179434111A>G	ENSP00000465570:p.Leu23942Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L16710S|TTN_uc010zfi.1_Missense_Mutation_p.L16643S|TTN_uc010zfj.1_Missense_Mutation_p.L16518S	p.L23015S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69268	-			23942					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69044T>C		.	.	.	.	.	.	.	.	.	.	A	9.057	0.993608	0.19043	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70281	0.3206	M	0.69823	2.125	0.34576	D	0.713922	P;P;P;P	0.39352	0.669;0.669;0.669;0.521	B;B;B;B	0.41374	0.355;0.355;0.355;0.272	T	0.81733	-0.0798	9	0.87932	D	0	.	15.9886	0.80183	1.0:0.0:0.0:0.0	.	16518;16643;16710;23942	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23015;16518;16710;16643;16516	ENSP00000343764:L23015S;ENSP00000434586:L16518S;ENSP00000340554:L16710S;ENSP00000352154:L16643S	ENSP00000340554:L16710S	L	-	2	0	TTN	179142357	0.998000	0.40836	0.964000	0.40570	0.814000	0.46013	5.051000	0.64257	2.173000	0.68751	0.533000	0.62120	TTA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	110	0	0	0	0.008361	0	32	110				
TTN	7273	broad.mit.edu	37	2	179440483	179440483	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179440483G>T	ENST00000591111.1	-	276	65677	c.65453C>A	c.(65452-65454)cCt>cAt	p.P21818H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14394H|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14586H|TTN_ENST00000589042.1_Missense_Mutation_p.P23459H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14519H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20891H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21818	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTATCAGAGGGAGGTCCCA	0.507																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62671-62673)CCT>CAT		titin isoform N2-A							101.0	101.0	101.0					2																	179440483		2063	4216	6279	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440483G>T	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.65453C>A	2.37:g.179440483G>T	ENSP00000465570:p.Pro21818His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P14586H|TTN_uc010zfi.1_Missense_Mutation_p.P14519H|TTN_uc010zfj.1_Missense_Mutation_p.P14394H	p.P20891H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	62896	-			21818					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.62672C>A		.	.	.	.	.	.	.	.	.	.	G	14.67	2.604836	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87981	0.6315	H	0.98256	4.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91858	0.5497	9	0.87932	D	0	.	19.938	0.97149	0.0:0.0:1.0:0.0	.	14394;14519;14586;21818	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20891;14394;14586;14519;14392	ENSP00000343764:P20891H;ENSP00000434586:P14394H;ENSP00000340554:P14586H;ENSP00000352154:P14519H	ENSP00000340554:P14586H	P	-	2	0	TTN	179148729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.732000	0.93576	0.650000	0.86243	CCT		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	60	1	0	5.82388e-19	0.00361	9.76516e-19	50	60				
TTN	7273	broad.mit.edu	37	2	179442720	179442720	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179442720G>T	ENST00000591111.1	-	272	63823	c.63599C>A	c.(63598-63600)cCa>cAa	p.P21200Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13776Q|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13968Q|TTN_ENST00000589042.1_Missense_Mutation_p.P22841Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13901Q|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20273Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21200	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACCAATTGGGTCCAGTGC	0.398																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60817-60819)CCA>CAA		titin isoform N2-A							71.0	67.0	68.0					2																	179442720		1884	4110	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442720G>T	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.63599C>A	2.37:g.179442720G>T	ENSP00000465570:p.Pro21200Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13968Q|TTN_uc010zfi.1_Missense_Mutation_p.P13901Q|TTN_uc010zfj.1_Missense_Mutation_p.P13776Q|uc002umv.1_5'Flank	p.P20273Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	61042	-			21200					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60818C>A		.	.	.	.	.	.	.	.	.	.	G	10.34	1.323224	0.24080	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.02;-0.07;-0.05	5.68	5.68	0.88126	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84079	0.5393	H	0.96889	3.9	0.58432	D	0.999996	P;D;D;D	0.53745	0.921;0.962;0.962;0.959	B;P;P;B	0.49451	0.284;0.611;0.611;0.425	D	0.89519	0.3777	9	0.87932	D	0	.	19.7781	0.96402	0.0:0.0:1.0:0.0	.	13776;13901;13968;21200	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	20273;13776;13968;13901;13774	ENSP00000343764:P20273Q;ENSP00000434586:P13776Q;ENSP00000340554:P13968Q;ENSP00000352154:P13901Q	ENSP00000340554:P13968Q	P	-	2	0	TTN	179150966	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.863000	0.87023	2.694000	0.91930	0.650000	0.86243	CCA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	52	1	0	9.57634e-11	0.00333	1.30768e-10	26	52				
TTN	7273	broad.mit.edu	37	2	179463902	179463902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179463902C>A	ENST00000591111.1	-	240	51919	c.51695G>T	c.(51694-51696)aGt>aTt	p.S17232I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9808I|TTN_ENST00000342175.6_Missense_Mutation_p.S10000I|TTN_ENST00000589042.1_Missense_Mutation_p.S18873I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9933I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16305I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17232	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTTCACTGTCAAGAGG	0.358																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48913-48915)AGT>ATT		titin isoform N2-A							255.0	250.0	252.0					2																	179463902		1879	4091	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463902C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51695G>T	2.37:g.179463902C>A	ENSP00000465570:p.Ser17232Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S10000I|TTN_uc010zfi.1_Missense_Mutation_p.S9933I|TTN_uc010zfj.1_Missense_Mutation_p.S9808I	p.S16305I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	49138	-			17232					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48914G>T		.	.	.	.	.	.	.	.	.	.	C	15.18	2.758218	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.98	5.98	0.97165	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83202	0.5203	M	0.87971	2.92	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.84765	0.0764	9	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	9808;9933;10000;17232	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16305;9808;10000;9933;9806	ENSP00000343764:S16305I;ENSP00000434586:S9808I;ENSP00000340554:S10000I;ENSP00000352154:S9933I	ENSP00000340554:S10000I	S	-	2	0	TTN	179172147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.950000	0.63603	2.843000	0.97960	0.650000	0.86243	AGT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		111	215	1	0	7.90946e-78	0.00361	1.53712e-77	111	215				
TTN	7273	broad.mit.edu	37	2	179474015	179474015	+	Missense_Mutation	SNP	C	C	A	rs370390570	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179474015C>A	ENST00000591111.1	-	223	47323	c.47099G>T	c.(47098-47100)cGa>cTa	p.R15700L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8276L|TTN_ENST00000342175.6_Missense_Mutation_p.R8468L|TTN_ENST00000589042.1_Missense_Mutation_p.R17341L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8401L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14773L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15700	Ig-like 98.		R -> Q. {ECO:0000269|PubMed:17344846}.		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)			ATGGTCAGGTCGGAGAGAATC	0.438																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44317-44319)CGA>CTA		titin isoform N2-A							95.0	91.0	92.0					2																	179474015		1911	4123	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474015C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47099G>T	2.37:g.179474015C>A	ENSP00000465570:p.Arg15700Leu					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8468L|TTN_uc010zfi.1_Missense_Mutation_p.R8401L|TTN_uc010zfj.1_Missense_Mutation_p.R8276L	p.R14773L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44542	-			15700					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44318G>T		.	.	.	.	.	.	.	.	.	.	C	17.04	3.287587	0.59976	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64294	0.2585	M	0.73753	2.245	0.58432	D	0.999999	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.60117	0.823;0.823;0.823;0.869	T	0.67031	-0.5773	9	0.87932	D	0	.	19.8608	0.96783	0.0:1.0:0.0:0.0	.	8276;8401;8468;15700	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	14773;8276;8468;8401;8276	ENSP00000343764:R14773L;ENSP00000434586:R8276L;ENSP00000340554:R8468L;ENSP00000352154:R8401L	ENSP00000340554:R8468L	R	-	2	0	TTN	179182260	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.514000	0.81750	2.680000	0.91292	0.558000	0.71614	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	22	1	0	8.34094e-07	0.008871	1.00314e-06	21	22				
TTN	7273	broad.mit.edu	37	2	179497646	179497646	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179497646T>A	ENST00000591111.1	-	184	38513	c.38289A>T	c.(38287-38289)aaA>aaT	p.K12763N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.K5339N|TTN_ENST00000342175.6_Splice_Site_p.K5531N|TTN_ENST00000589042.1_Splice_Site_p.K14404N|TTN_ENST00000359218.5_Splice_Site_p.K5464N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.K11836N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12763					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)			AGAGCATACCTTTCACTTTCA	0.438																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35506-35508)AAA>AAT		titin isoform N2-A							145.0	146.0	146.0					2																	179497646		1915	4118	6033	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497646T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38290+1A>T	2.37:g.179497646T>A						TTN_uc010zfh.1_Missense_Mutation_p.K5531N|TTN_uc010zfi.1_Missense_Mutation_p.K5464N|TTN_uc010zfj.1_Missense_Mutation_p.K5339N	p.K11836N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35732	-			12763					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35508A>T		.	.	.	.	.	.	.	.	.	.	T	12.67	2.006434	0.35415	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	6.07	6.07	0.98685	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67277	0.2876	M	0.88906	2.99	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73987	-0.3809	9	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	5339;5464;5531;12763	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11836;5339;5531;5464;5339	ENSP00000343764:K11836N;ENSP00000434586:K5339N;ENSP00000340554:K5531N;ENSP00000352154:K5464N	ENSP00000340554:K5531N	K	-	3	2	TTN	179205891	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.860000	0.62961	2.326000	0.78906	0.533000	0.62120	AAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	99	81	0	0	0	0.00361	0	99	81				
TTN	7273	broad.mit.edu	37	2	179529239	179529239	+	Intron	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179529239G>T	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.V12076V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCCGGGACAACTTCTC	0.393																																							uc010zfk.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.(664-666)GTC>GTA		SubName: Full=Titin; Flags: Fragment;							165.0	158.0	160.0					2																	179529239		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529239G>T	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.34264+5705C>A	2.37:g.179529239G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.V222V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	1214	-			11432					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.666C>A		.	.	.	.	.	.	.	.	.	.	G	2.145	-0.395770	0.04899	.	.	ENSG00000155657	ENST00000425332	.	.	.	5.2	-0.578	0.11724	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	1.8392	0.03146	0.1253:0.2735:0.2714:0.3298	.	.	.	.	Y	140	.	.	S	-	2	0	TTN	179237484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-0.030000	0.13804	-0.188000	0.12872	TCC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	97	1	0	6.50621e-10	0.002836	8.639e-10	33	97				
TTN	7273	broad.mit.edu	37	2	179599228	179599228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179599228C>A	ENST00000591111.1	-	50	14596	c.14372G>T	c.(14371-14373)tGg>tTg	p.W4791L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.W5108L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W3864L			Q8WZ42	TITIN_HUMAN	titin	12171	Ig-like 28.				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)			GTCTTTGAACCAGCTAATTTC	0.383																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11590-11592)TGG>TTG		titin isoform N2-A							90.0	89.0	90.0					2																	179599228		1843	4105	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599228C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14372G>T	2.37:g.179599228C>A	ENSP00000465570:p.Trp4791Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.W525L	p.W3864L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11815	-			4791					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11591G>T		.	.	.	.	.	.	.	.	.	.	C	14.56	2.571864	0.45798	.	.	ENSG00000155657	ENST00000342992	D	0.96459	-4.02	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.99180	0.9716	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98652	1.0680	9	0.87932	D	0	.	19.9731	0.97292	0.0:1.0:0.0:0.0	.	4791	Q8WZ42	TITIN_HUMAN	L	3864	ENSP00000343764:W3864L	ENSP00000343764:W3864L	W	-	2	0	TTN	179307473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.715000	0.92844	0.563000	0.77884	TGG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	80	1	0	8.00217e-19	0.00361	1.3402e-18	51	80				
CERKL	375298	broad.mit.edu	37	2	182403888	182403888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:182403888G>T	ENST00000339098.5	-	13	1546	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	CERKL_ENST00000374969.2_Missense_Mutation_p.A377D|CERKL_ENST00000410087.3_Missense_Mutation_p.A490D|CERKL_ENST00000374970.2_Missense_Mutation_p.A421D|CERKL_ENST00000409440.3_Missense_Mutation_p.A472D			Q49MI3	CERKL_HUMAN	ceramide kinase-like	516					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTTCTGAAGCAGTTTCATC	0.373																																							uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1546-1548)GCT>GAT		ceramide kinase-like isoform b							152.0	145.0	148.0					2																	182403888		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182403888G>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1547C>A	2.37:g.182403888G>T	ENSP00000341159:p.Ala516Asp					CERKL_uc002uny.2_Missense_Mutation_p.A490D|CERKL_uc010zfm.1_Missense_Mutation_p.A472D|CERKL_uc002unz.2_Missense_Mutation_p.A238D|CERKL_uc002uoa.2_Missense_Mutation_p.A421D|CERKL_uc002uob.2_Missense_Mutation_p.A238D|CERKL_uc002uoc.2_Missense_Mutation_p.A377D|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.A86D	p.A516D	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		13	1648	-			516					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1547C>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592040	0.46214	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.32272	2.21;2.47;1.46;2.46;1.46	5.13	1.11	0.20524	.	2.141330	0.01694	N	0.026792	T	0.39572	0.1083	L	0.57536	1.79	0.09310	N	1	B;B;P;P;P	0.48089	0.04;0.451;0.852;0.554;0.905	B;B;P;B;B	0.49421	0.015;0.081;0.61;0.373;0.372	T	0.16512	-1.0400	10	0.25751	T	0.34	.	6.834	0.23925	0.2131:0.1296:0.6572:0.0	.	472;377;421;490;516	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	D	490;472;377;516;421	ENSP00000386725:A490D;ENSP00000387080:A472D;ENSP00000364108:A377D;ENSP00000341159:A516D;ENSP00000364109:A421D	ENSP00000341159:A516D	A	-	2	0	CERKL	182112133	0.030000	0.19436	0.017000	0.16124	0.929000	0.56500	1.753000	0.38359	0.098000	0.17522	0.643000	0.83706	GCT		0.373	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			118	70	1	0	1.90269e-63	0.00361	3.6828e-63	118	70				
PDE1A	5136	broad.mit.edu	37	2	183011820	183011820	+	Nonsense_Mutation	SNP	C	C	A	rs144375935	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:183011820C>A	ENST00000435564.1	-	14	1824	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E526*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.E438*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.E508*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E542*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAATGTGTCTCATCATGTTTT	0.294																																							uc002uoq.1		NA																	0				skin(2)|ovary(1)	3						c.(1624-1626)GAG>TAG		phosphodiesterase 1A isoform 1							126.0	128.0	127.0					2																	183011820		2202	4300	6502	SO:0001587	stop_gained	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183011820C>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000435564.1:c.1624G>T	2.37:g.183011820C>A	ENSP00000410309:p.Glu542*					PDE1A_uc010zfp.1_Nonsense_Mutation_p.E438*|PDE1A_uc010zfq.1_Nonsense_Mutation_p.E542*	p.E542*	NM_005019	NP_005010	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		14	1774	-			Error:Variant_position_missing_in_P54750_after_alignment					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonsense_Mutation	SNP	ENST00000435564.1	37	c.1624G>T	CCDS2285.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282530	0.80692	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935	.	.	.	5.49	5.49	0.81192	.	705.449000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.4107	0.74917	0.0:1.0:0.0:0.0	.	.	.	.	X	542;508;438;526;542	.	ENSP00000331574:E542X	E	-	1	0	PDE1A	182720065	0.958000	0.32768	0.981000	0.43875	0.805000	0.45488	1.667000	0.37471	2.775000	0.95449	0.644000	0.83932	GAG		0.294	PDE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255807.1			32	57	1	0	6.97489e-18	0.004878	1.14423e-17	32	57				
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:189859297G>C	ENST00000304636.3	+	19	1494	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.E442Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGCCAAAGGAGAGCCCGGACC	0.398																																							uc002uqj.1		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1324-1326)GAG>CAG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						104.0	103.0	103.0					2																	189859297		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859297G>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1324G>C	2.37:g.189859297G>C	ENSP00000304408:p.Glu442Gln						p.E442Q	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		19	1441	+			442			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1324G>C	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486537	0.84854	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93366	-3.21;-3.21	6.17	6.17	0.99709	.	0.243373	0.28712	N	0.014383	D	0.89894	0.6847	N	0.25825	0.765	0.58432	D	0.999998	P	0.41366	0.747	B	0.38842	0.283	D	0.88825	0.3301	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	442	P02461	CO3A1_HUMAN	Q	442	ENSP00000304408:E442Q;ENSP00000315243:E442Q	ENSP00000304408:E442Q	E	+	1	0	COL3A1	189567542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.550000	0.98110	2.941000	0.99782	0.655000	0.94253	GAG		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		13	55	0	0	0	0.004007	0	13	55				
COL5A2	1290	broad.mit.edu	37	2	189899839	189899839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:189899839G>T	ENST00000374866.3	-	53	4430	c.4156C>A	c.(4156-4158)Cag>Aag	p.Q1386K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1386	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAAGTCATCTGAGTAATGGCT	0.393																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(4156-4158)CAG>AAG		alpha 2 type V collagen preproprotein							99.0	97.0	97.0					2																	189899839		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899839G>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4156C>A	2.37:g.189899839G>T	ENSP00000364000:p.Gln1386Lys					COL5A2_uc010frx.2_Missense_Mutation_p.Q962K	p.Q1386K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4431	-			1386			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4156C>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339463	0.81911	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.83163	-1.69	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.46145	D	0.000311	D	0.94538	0.8241	H	0.96943	3.91	0.80722	D	1	D;D	0.53885	0.963;0.963	D;D	0.71414	0.973;0.973	D	0.95848	0.8872	10	0.72032	D	0.01	.	19.4452	0.94844	0.0:0.0:1.0:0.0	.	1026;1386	Q5PR22;P05997	.;CO5A2_HUMAN	K	1386;1026	ENSP00000364000:Q1386K	ENSP00000364000:Q1386K	Q	-	1	0	COL5A2	189608084	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.589000	0.87451	0.557000	0.71058	CAG		0.393	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		17	64	1	0	1.00905e-13	0.008871	1.51095e-13	17	64				
COQ10B	80219	broad.mit.edu	37	2	198324753	198324753	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:198324753A>G	ENST00000263960.2	+	2	340	c.202A>G	c.(202-204)Act>Gct	p.T68A	COQ10B_ENST00000545340.1_Missense_Mutation_p.T25A|COQ10B_ENST00000409398.1_Intron|COQ10B_ENST00000409010.1_Missense_Mutation_p.T40A	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	68						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCAAAATCACTGCACCATT	0.343																																							uc002uuh.1		NA																	0					0						c.(202-204)ACT>GCT		coenzyme Q10 homolog B precursor							74.0	72.0	73.0					2																	198324753		2203	4300	6503	SO:0001583	missense	80219					mitochondrial inner membrane		g.chr2:198324753A>G	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.202A>G	2.37:g.198324753A>G	ENSP00000263960:p.Thr68Ala					COQ10B_uc010fsl.1_Missense_Mutation_p.T40A	p.T68A	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		2	256	+			68					B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	c.202A>G	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	A	0.046	-1.267664	0.01433	.	.	ENSG00000115520	ENST00000263960;ENST00000545340;ENST00000409010	T;T;T	0.20881	2.06;2.04;2.05	5.62	-3.97	0.04094	.	0.532611	0.22770	N	0.055858	T	0.04407	0.0121	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34403	-0.9830	10	0.02654	T	1	6.1133	9.0949	0.36634	0.6447:0.0:0.2435:0.1118	.	40;68	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	A	68;25;40	ENSP00000263960:T68A;ENSP00000442520:T25A;ENSP00000387223:T40A	ENSP00000263960:T68A	T	+	1	0	COQ10B	198032998	0.032000	0.19561	0.133000	0.22050	0.397000	0.30659	0.275000	0.18698	-0.861000	0.04094	-0.337000	0.08149	ACT		0.343	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		9	42	0	0	0	0.004482	0	9	42				
ZDBF2	57683	broad.mit.edu	37	2	207171539	207171539	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:207171539G>C	ENST00000374423.3	+	5	2673	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	763							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCAGTTACTGAGCAGTCTCA	0.403																																							uc002vbp.2		NA																	0				ovary(3)	3						c.(2287-2289)GAG>CAG		zinc finger, DBF-type containing 2							186.0	187.0	186.0					2																	207171539		1900	4109	6009	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171539G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2287G>C	2.37:g.207171539G>C	ENSP00000363545:p.Glu763Gln						p.E763Q	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2537	+			763					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2287G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546230	0.27652	.	.	ENSG00000204186	ENST00000374423	T	0.53423	0.62	4.38	-0.963	0.10330	.	0.832852	0.10068	N	0.720006	T	0.50786	0.1636	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	P	0.56960	0.81	T	0.41413	-0.9510	10	0.59425	D	0.04	.	4.1583	0.10272	0.3172:0.3124:0.3704:0.0	.	763	Q9HCK1	ZDBF2_HUMAN	Q	763	ENSP00000363545:E763Q	ENSP00000363545:E763Q	E	+	1	0	ZDBF2	206879784	0.870000	0.30015	0.000000	0.03702	0.014000	0.08584	0.918000	0.28678	-0.179000	0.10654	0.655000	0.94253	GAG		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		52	123	0	0	0	0.00361	0	52	123				
ADAM23	8745	broad.mit.edu	37	2	207454155	207454155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:207454155C>A	ENST00000264377.3	+	21	2203	c.1875C>A	c.(1873-1875)ttC>ttA	p.F625L	ADAM23_ENST00000374416.1_Missense_Mutation_p.F625L|ADAM23_ENST00000374415.3_Missense_Mutation_p.F625L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	625					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTGACAAGTTCTGCTATGAAA	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)	Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	0				skin(2)|ovary(1)	3						c.(1873-1875)TTC>TTA		ADAM metallopeptidase domain 23 preproprotein							75.0	72.0	73.0					2																	207454155		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207454155C>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1875C>A	2.37:g.207454155C>A	ENSP00000264377:p.Phe625Leu					ADAM23_uc010ziv.1_RNA	p.F625L	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	21	2098	+			625			Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1875C>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486606	0.63962	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20881	2.04;2.04;2.04	5.72	5.72	0.89469	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000003	T	0.14527	0.0351	L	0.28504	0.86	0.54753	D	0.999982	P	0.38395	0.629	B	0.37692	0.256	T	0.06899	-1.0801	10	0.10902	T	0.67	.	11.2346	0.48933	0.0:0.8585:0.0:0.1415	.	625	O75077	ADA23_HUMAN	L	625;625;519;625	ENSP00000264377:F625L;ENSP00000363537:F625L;ENSP00000363536:F625L	ENSP00000264377:F625L	F	+	3	2	ADAM23	207162400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.123000	0.41996	2.698000	0.92095	0.591000	0.81541	TTC		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		11	22	1	0	7.03913e-09	0.001368	9.16103e-09	11	22				
C2orf80	389073	broad.mit.edu	37	2	209045976	209045976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:209045976G>A	ENST00000341287.4	-	5	455	c.260C>T	c.(259-261)gCt>gTt	p.A87V	C2orf80_ENST00000451346.1_Missense_Mutation_p.A68V|C2orf80_ENST00000453017.1_Missense_Mutation_p.A87V	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	87										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TAAAATCATAGCTTCTCGTTC	0.333																																							uc002vcr.2		NA																	0				skin(1)	1						c.(259-261)GCT>GTT		hypothetical protein LOC389073							122.0	112.0	115.0					2																	209045976		1834	4082	5916	SO:0001583	missense	389073							g.chr2:209045976G>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.260C>T	2.37:g.209045976G>A	ENSP00000343171:p.Ala87Val						p.A87V	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			5	432	-			87					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.260C>T	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440723	0.83993	.	.	ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000453017	T;T;T;T	0.56611	0.84;1.35;1.23;0.45	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000030	T	0.62913	0.2467	L	0.34521	1.04	0.41632	D	0.989023	D	0.89917	1.0	D	0.87578	0.998	T	0.65919	-0.6051	10	0.87932	D	0	-17.4889	15.6009	0.76626	0.0:0.0:1.0:0.0	.	87	Q0P641	CB080_HUMAN	V	12;87;68;87	ENSP00000389385:A12V;ENSP00000343171:A87V;ENSP00000405393:A68V;ENSP00000397144:A87V	ENSP00000343171:A87V	A	-	2	0	C2orf80	208754221	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.852000	0.69488	2.745000	0.94114	0.563000	0.77884	GCT		0.333	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		15	52	0	0	0	0.004007	0	15	52				
MAP2	4133	broad.mit.edu	37	2	210558660	210558660	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:210558660G>C	ENST00000360351.4	+	7	2272	c.1766G>C	c.(1765-1767)gGc>gCc	p.G589A	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G585A|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	589					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATTGAGCCAGGCAGTGATTAC	0.388																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1765-1767)GGC>GCC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						90.0	86.0	88.0					2																	210558660		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558660G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1766G>C	2.37:g.210558660G>C	ENSP00000353508:p.Gly589Ala					MAP2_uc002vdc.1_Missense_Mutation_p.G589A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G585A	p.G589A	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2014	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	589					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1766G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781477	0.31502	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.30182	1.54;1.54	6.16	1.1	0.20463	MAP2/Tau projection (1);	0.280320	0.31102	N	0.008247	T	0.21509	0.0518	L	0.31926	0.97	0.39882	D	0.973655	B;B	0.15719	0.011;0.014	B;B	0.17098	0.01;0.017	T	0.06698	-1.0812	10	0.52906	T	0.07	-1.5733	9.2761	0.37700	0.1222:0.3347:0.5431:0.0	.	585;589	P11137-3;P11137	.;MAP2_HUMAN	A	589;585	ENSP00000353508:G589A;ENSP00000392164:G585A	ENSP00000353508:G589A	G	+	2	0	MAP2	210266905	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	2.394000	0.44450	0.126000	0.18424	0.650000	0.86243	GGC		0.388	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		23	72	0	0	0	0.00278	0	23	72				
CPS1	1373	broad.mit.edu	37	2	211464260	211464260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:211464260G>T	ENST00000233072.5	+	14	1720	c.1524G>T	c.(1522-1524)atG>atT	p.M508I	CPS1_ENST00000430249.2_Missense_Mutation_p.M514I|CPS1_ENST00000451903.2_Missense_Mutation_p.M57I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	508					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTCTGGGCATGGGTGGCCAGA	0.443																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1522-1524)ATG>ATT		carbamoyl-phosphate synthetase 1 isoform b							125.0	126.0	126.0					2																	211464260		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464260G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1524G>T	2.37:g.211464260G>T	ENSP00000233072:p.Met508Ile					CPS1_uc010fur.2_Missense_Mutation_p.M514I|CPS1_uc010fus.2_Missense_Mutation_p.M57I	p.M508I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1656	+			508					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1524G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975859	0.92982	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.97303	-4.33;-4.33;-4.33	5.17	5.17	0.71159	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.65323	0.934;0.934	D	0.99387	1.0924	10	0.87932	D	0	-24.8321	19.03	0.92952	0.0:0.0:1.0:0.0	.	518;508	Q59HF8;P31327	.;CPSM_HUMAN	I	514;516;508;508;57	ENSP00000402608:M514I;ENSP00000233072:M508I;ENSP00000406136:M57I	ENSP00000233072:M508I	M	+	3	0	CPS1	211172505	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.339000	0.79282	2.579000	0.87056	0.455000	0.32223	ATG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			26	54	1	0	3.96558e-24	0.004656	7.13014e-24	26	54				
CPS1	1373	broad.mit.edu	37	2	211523382	211523382	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:211523382C>A	ENST00000233072.5	+	31	3922	c.3726C>A	c.(3724-3726)gtC>gtA	p.V1242V	CPS1_ENST00000430249.2_Silent_p.V1248V|CPS1_ENST00000451903.2_Silent_p.V791V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1242	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CATTCAACGTCCAATTTCTTG	0.438																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3724-3726)GTC>GTA		carbamoyl-phosphate synthetase 1 isoform b							112.0	105.0	107.0					2																	211523382		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211523382C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3726C>A	2.37:g.211523382C>A						CPS1_uc010fur.2_Silent_p.V1248V|CPS1_uc010fus.2_Silent_p.V791V	p.V1242V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	31	3858	+			1242			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3726C>A	CCDS2393.1																																																																																				0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			14	45	1	0	1.15088e-07	0.004007	1.43066e-07	14	45				
ERBB4	2066	broad.mit.edu	37	2	212295716	212295716	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:212295716C>T	ENST00000342788.4	-	21	2907	c.2597G>A	c.(2596-2598)aGa>aAa	p.R866K	ERBB4_ENST00000436443.1_Missense_Mutation_p.R866K|ERBB4_ENST00000402597.1_Missense_Mutation_p.R856K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCAAGAGTCTGGCTAGCCC	0.403										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2596-2598)AGA>AAA		v-erb-a erythroblastic leukemia viral oncogene							140.0	134.0	136.0					2																	212295716		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295716C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2597G>A	2.37:g.212295716C>T	ENSP00000342235:p.Arg866Lys	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.R866K|ERBB4_uc010zji.1_Missense_Mutation_p.R856K|ERBB4_uc010zjj.1_Missense_Mutation_p.R856K	p.R866K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2695	-		Renal(323;0.06)|Lung NSC(271;0.197)	866			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2597G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404746	0.25378	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.84146	-1.81;-1.81;-1.81	5.19	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	N	0.21508	0.67	0.80722	D	1	B;B;D;D	0.55605	0.121;0.008;0.966;0.972	B;B;D;D	0.66979	0.159;0.012;0.913;0.948	T	0.80961	-0.1148	10	0.10377	T	0.69	.	19.0631	0.93100	0.0:1.0:0.0:0.0	.	856;856;866;866	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	866;866;856	ENSP00000342235:R866K;ENSP00000403204:R866K;ENSP00000385565:R856K	ENSP00000342235:R866K	R	-	2	0	ERBB4	212003961	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	7.747000	0.85070	2.565000	0.86533	0.563000	0.77884	AGA		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		42	85	0	0	0	0.002522	0	42	85				
ABCA12	26154	broad.mit.edu	37	2	215876849	215876849	+	Missense_Mutation	SNP	G	G	T	rs374169066	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:215876849G>T	ENST00000272895.7	-	16	2186	c.1967C>A	c.(1966-1968)cCg>cAg	p.P656Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.P338Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	656					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCTTTCCTCGGGAAAAACAC	0.388																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1966-1968)CCG>CAG		ATP-binding cassette, sub-family A, member 12							126.0	125.0	125.0					2																	215876849		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876849G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1967C>A	2.37:g.215876849G>T	ENSP00000272895:p.Pro656Gln					ABCA12_uc002vev.2_Missense_Mutation_p.P338Q|ABCA12_uc010zjn.1_5'UTR	p.P656Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	16	2187	-		Renal(323;0.127)	656					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1967C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025501	0.54683	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89746	-2.56;-2.53	5.55	5.55	0.83447	.	0.862774	0.09995	N	0.729239	D	0.86502	0.5948	L	0.27053	0.805	0.80722	D	1	B;B	0.18610	0.005;0.029	B;B	0.33295	0.012;0.161	T	0.78301	-0.2257	10	0.62326	D	0.03	.	15.0517	0.71877	0.0:0.0:1.0:0.0	.	656;338	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	656;338	ENSP00000272895:P656Q;ENSP00000374312:P338Q	ENSP00000272895:P656Q	P	-	2	0	ABCA12	215585094	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.522000	0.67092	2.621000	0.88768	0.650000	0.86243	CCG		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		28	86	1	0	2.12542e-12	0.00632	3.0496e-12	28	86				
STK36	27148	broad.mit.edu	37	2	219544765	219544765	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:219544765G>T	ENST00000295709.3	+	9	1377	c.1098G>T	c.(1096-1098)tgG>tgT	p.W366C	STK36_ENST00000392105.3_Missense_Mutation_p.W366C|STK36_ENST00000440309.1_Missense_Mutation_p.W366C|STK36_ENST00000392106.2_Missense_Mutation_p.W366C	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGAGCAGCTGGGCTAAATCAG	0.562																																							uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1096-1098)TGG>TGT		serine/threonine kinase 36							65.0	72.0	69.0					2																	219544765		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219544765G>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1098G>T	2.37:g.219544765G>T	ENSP00000295709:p.Trp366Cys					STK36_uc002viv.2_Missense_Mutation_p.W366C	p.W366C	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	9	1364	+		Renal(207;0.0915)	366						Missense_Mutation	SNP	ENST00000295709.3	37	c.1098G>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	9.213	1.031398	0.19590	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.17	4.28	0.50868	.	0.000000	0.42548	D	0.000697	T	0.54046	0.1834	L	0.27053	0.805	0.52501	D	0.999957	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.53005	-0.8499	10	0.59425	D	0.04	-3.7737	6.3413	0.21324	0.0907:0.0:0.7255:0.1838	.	366;366	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	C	366	ENSP00000295709:W366C;ENSP00000375955:W366C;ENSP00000375954:W366C;ENSP00000394095:W366C	ENSP00000295709:W366C	W	+	3	0	STK36	219253009	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	2.079000	0.41577	1.367000	0.46095	0.655000	0.94253	TGG		0.562	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	90	1	0	3.83957e-06	0.00278	4.50868e-06	20	90				
TMEM198	130612	broad.mit.edu	37	2	220413950	220413950	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:220413950G>T	ENST00000344458.2	+	5	1404	c.819G>T	c.(817-819)cgG>cgT	p.R273R	TMEM198_ENST00000373883.3_Silent_p.R273R|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	273	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGAAAAGGCGGAAAAAGAGAC	0.637																																							uc002vme.2		NA																	0				ovary(1)	1						c.(817-819)CGG>CGT		transmembrane protein 198							74.0	83.0	80.0					2																	220413950		2203	4300	6503	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220413950G>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.819G>T	2.37:g.220413950G>T						TMEM198_uc002vmf.2_Silent_p.R273R|hsa-mir-3132|MI0014152_5'Flank	p.R273R	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1404	+		Renal(207;0.0376)	273			Arg-rich.			Silent	SNP	ENST00000344458.2	37	c.819G>T	CCDS33385.1																																																																																				0.637	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		19	82	1	0	5.35267e-07	0.007413	6.49709e-07	19	82				
IRS1	3667	broad.mit.edu	37	2	227662648	227662648	+	Missense_Mutation	SNP	C	C	A	rs574845417		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:227662648C>A	ENST00000305123.5	-	1	1827	c.807G>T	c.(805-807)aaG>aaT	p.K269N	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	269	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGACTGGCTCTTGCTGCGAG	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(805-807)AAG>AAT		insulin receptor substrate 1							77.0	83.0	81.0					2																	227662648		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662648C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.807G>T	2.37:g.227662648C>A	ENSP00000304895:p.Lys269Asn		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.K269N	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	859	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	269			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.807G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918506	0.52546	.	.	ENSG00000169047	ENST00000305123	T	0.68479	-0.33	5.79	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	M	0.73962	2.25	0.43021	D	0.994579	D	0.89917	1.0	D	0.85130	0.997	T	0.78056	-0.2353	10	0.72032	D	0.01	-28.8912	9.7439	0.40435	0.0:0.7205:0.0:0.2795	.	269	P35568	IRS1_HUMAN	N	269	ENSP00000304895:K269N	ENSP00000304895:K269N	K	-	3	2	IRS1	227370892	0.953000	0.32496	1.000000	0.80357	0.988000	0.76386	0.120000	0.15647	0.366000	0.24427	-0.221000	0.12465	AAG		0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		17	46	1	0	1.99824e-07	0.00499	2.46911e-07	17	46				
DNER	92737	broad.mit.edu	37	2	230231801	230231801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:230231801G>T	ENST00000341772.4	-	12	2024	c.1890C>A	c.(1888-1890)agC>agA	p.S630R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	630					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTTGGTGAGGCTCTCCGCCA	0.522																																							uc002vpv.2		NA																	0				lung(5)|ovary(2)|skin(1)	8						c.(1888-1890)AGC>AGA		delta-notch-like EGF repeat-containing							63.0	50.0	54.0					2																	230231801		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231801G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1890C>A	2.37:g.230231801G>T	ENSP00000345229:p.Ser630Arg						p.S630R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2037	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	630			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1890C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360431	0.41801	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.90004	-2.6	5.82	-2.41	0.06562	.	0.091899	0.85682	D	0.000000	D	0.84515	0.5489	N	0.12182	0.205	0.51012	D	0.999906	D	0.71674	0.998	P	0.60682	0.878	T	0.80106	-0.1521	10	0.29301	T	0.29	.	13.8111	0.63264	0.6224:0.0:0.3776:0.0	.	630	Q8NFT8	DNER_HUMAN	R	630;348	ENSP00000345229:S630R	ENSP00000345229:S630R	S	-	3	2	DNER	229940045	0.113000	0.22115	0.983000	0.44433	0.967000	0.64934	-0.442000	0.06871	-0.433000	0.07286	0.551000	0.68910	AGC		0.522	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		8	20	1	0	1.58986e-06	0.008291	1.8947e-06	8	20				
SP100	6672	broad.mit.edu	37	2	231406611	231406611	+	Missense_Mutation	SNP	G	G	A	rs545978500		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:231406611G>A	ENST00000340126.4	+	28	2439	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAACAGAACAGAGAGGGGTCT	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.0						uc002vqu.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2407-2409)AGA>AAA		nuclear antigen Sp100 isoform 1							75.0	72.0	73.0					2																	231406611		1867	4107	5974	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406611G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2408G>A	2.37:g.231406611G>A	ENSP00000343023:p.Arg803Lys					SP100_uc010fxp.1_Missense_Mutation_p.R121K	p.R803K	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	28	2549	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Error:Variant_position_missing_in_P23497_after_alignment					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2408G>A	CCDS42832.1	.	.	.	.	.	.	.	.	.	.	g	3.973	-0.007917	0.07773	.	.	ENSG00000067066	ENST00000340126;ENST00000414648	T	0.39997	1.05	3.59	-4.24	0.03777	.	.	.	.	.	T	0.20780	0.0500	N	0.20845	0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.21381	-1.0247	9	0.19147	T	0.46	.	5.6201	0.17453	0.4342:0.2495:0.3162:0.0	.	273;803	E9PHN1;P23497-4	.;.	K	803;273	ENSP00000343023:R803K	ENSP00000343023:R803K	R	+	2	0	SP100	231114855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.140000	0.00586	-1.430000	0.01985	-0.797000	0.03246	AGA		0.473	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		11	44	0	0	0	0.008291	0	11	44				
ECEL1	9427	broad.mit.edu	37	2	233349214	233349214	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233349214C>A	ENST00000304546.1	-	6	1362	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q384H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	384					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGCGACACCTGCTGCATGT	0.592																																							uc002vsv.2		NA																	0				central_nervous_system(2)	2						c.(1150-1152)CAG>CAT		endothelin converting enzyme-like 1							130.0	125.0	126.0					2																	233349214		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349214C>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1152G>T	2.37:g.233349214C>A	ENSP00000302051:p.Gln384His					ECEL1_uc010fya.1_Missense_Mutation_p.Q384H|ECEL1_uc010fyb.1_Missense_Mutation_p.Q91H	p.Q384H	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1357	-		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)	384			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1152G>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860912	0.51482	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73789	-0.78;-0.78	5.73	4.85	0.62838	Peptidase M13 (1);	0.240317	0.40302	N	0.001127	T	0.73273	0.3566	L	0.38838	1.175	0.39081	D	0.960907	B;P	0.44309	0.041;0.832	B;P	0.49085	0.028;0.6	T	0.76634	-0.2887	10	0.52906	T	0.07	-4.1095	14.5212	0.67851	0.0:0.9298:0.0:0.0702	.	384;384	O95672-2;O95672	.;ECEL1_HUMAN	H	384	ENSP00000302051:Q384H;ENSP00000386333:Q384H	ENSP00000302051:Q384H	Q	-	3	2	ECEL1	233057458	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.908000	0.28545	1.430000	0.47334	0.558000	0.71614	CAG		0.592	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		75	84	1	0	7.62596e-35	0.00361	1.43372e-34	75	84				
GIGYF2	26058	broad.mit.edu	37	2	233626121	233626121	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233626121T>C	ENST00000409547.1	+	10	818	c.507T>C	c.(505-507)ttT>ttC	p.F169F	AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409451.3_Silent_p.F169F|GIGYF2_ENST00000373566.3_Silent_p.F169F|GIGYF2_ENST00000409480.1_Silent_p.F169F|GIGYF2_ENST00000409196.3_Silent_p.F169F|GIGYF2_ENST00000373563.4_Silent_p.F169F	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	169	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACAGACGTTTTGAAAAACCAG	0.353																																							uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(505-507)TTT>TTC		GRB10 interacting GYF protein 2 isoform b							88.0	86.0	87.0					2																	233626121		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233626121T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.507T>C	2.37:g.233626121T>C						GIGYF2_uc010zmj.1_Silent_p.F169F|GIGYF2_uc002vtg.2_Silent_p.F169F|GIGYF2_uc002vtj.3_Silent_p.F169F|GIGYF2_uc002vtk.3_Silent_p.F169F|GIGYF2_uc002vth.3_Silent_p.F169F|GIGYF2_uc010zmk.1_RNA	p.F169F	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	10	844	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	169			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.507T>C	CCDS33401.1																																																																																				0.353	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		21	34	0	0	0	0.010504	0	21	34				
NEU2	4759	broad.mit.edu	37	2	233899029	233899029	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233899029C>A	ENST00000233840.3	+	2	405	c.405C>A	c.(403-405)acC>acA	p.T135T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	135					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ACGGGAGGACCTGGAGCTCCC	0.637																																							uc010zmn.1		NA																	0					0						c.(403-405)ACC>ACA		neuraminidase 2							61.0	59.0	60.0					2																	233899029		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899029C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.405C>A	2.37:g.233899029C>A							p.T135T	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	405	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	135			BNR 1.		Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.405C>A	CCDS2501.1																																																																																				0.637	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		9	32	1	0	3.86212e-05	0.008291	4.37828e-05	9	32				
UGT1A7	54577	broad.mit.edu	37	2	234591295	234591295	+	Missense_Mutation	SNP	C	C	T	rs141296723	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:234591295C>T	ENST00000373426.3	+	1	712	c.712C>T	c.(712-714)Cct>Tct	p.P238S	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	238					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCTCCAAACCCCTGTCACGGC	0.413													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19694	0.0		0.0	False		,,,				2504	0.0						uc002vut.2		NA																	0				ovary(1)	1						c.(712-714)CCT>TCT		UDP glycosyltransferase 1 family, polypeptide A7		C	,,SER/PRO,	3,4403	6.2+/-15.9	0,3,2200	196.0	208.0	204.0		,,712,	-3.7	0.0	2	dbSNP_134	204	0,8600		0,0,4300	yes	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,74,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,	,,238/531,	234591295	3,13003	2203	4300	6503	SO:0001583	missense	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591295C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.712C>T	2.37:g.234591295C>T	ENSP00000362525:p.Pro238Ser					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.P238S	p.P238S	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	712	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	238					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.712C>T	CCDS2506.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.829	0.719347	0.15372	6.81E-4	0.0	ENSG00000244122	ENST00000373426	T	0.63096	-0.02	4.16	-3.66	0.04489	.	.	.	.	.	T	0.40322	0.1112	N	0.21240	0.645	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.27839	-1.0062	9	0.59425	D	0.04	.	3.334	0.07094	0.185:0.3885:0.2861:0.1405	.	238;238	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	S	238	ENSP00000362525:P238S	ENSP00000362525:P238S	P	+	1	0	UGT1A7	234256034	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.955000	0.03869	-0.615000	0.05679	-0.663000	0.03849	CCT		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		67	249	0	0	0	0.00361	0	67	249				
TRAF3IP1	26146	broad.mit.edu	37	2	239307493	239307493	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:239307493A>T	ENST00000373327.4	+	17	2231	c.2009A>T	c.(2008-2010)aAc>aTc	p.N670I	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.N604I|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.N670I	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	670	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GTGAAGGCCAACATCCTCAAG	0.448																																							uc002vye.2		NA																	0				ovary(1)	1						c.(2008-2010)AAC>ATC		TNF receptor-associated factor 3 interacting							85.0	89.0	88.0					2																	239307493		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239307493A>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.2009A>T	2.37:g.239307493A>T	ENSP00000362424:p.Asn670Ile					TRAF3IP1_uc002vyf.2_Missense_Mutation_p.N604I	p.N670I	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	17	2128	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	670			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.2009A>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068174	0.76301	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.64	-0.816	0.10839	.	0.260506	0.49305	D	0.000158	T	0.32255	0.0823	M	0.78049	2.395	0.58432	D	0.999996	D;P	0.62365	0.991;0.947	D;P	0.65140	0.932;0.893	T	0.06144	-1.0843	10	0.72032	D	0.01	-27.5107	5.9083	0.19014	0.5812:0.1283:0.2905:0.0	.	604;670	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	I	604;670;670;604	ENSP00000375851:N604I;ENSP00000362424:N670I;ENSP00000375852:N670I	ENSP00000362424:N670I	N	+	2	0	TRAF3IP1	238972232	0.998000	0.40836	0.990000	0.47175	0.933000	0.57130	1.009000	0.29886	-0.127000	0.11661	0.528000	0.53228	AAC		0.448	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		41	47	0	0	0	0.006999	0	41	47				
RTP5	285093	broad.mit.edu	37	2	242815135	242815135	+	Missense_Mutation	SNP	C	C	G	rs375279566		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:242815135C>G	ENST00000343216.3	+	2	1456	c.1428C>G	c.(1426-1428)ttC>ttG	p.F476L		NM_173821.2	NP_776182.2																					CCATCCCCTTCGCAGTCTTCG	0.627																																							uc010fzu.1		NA																	0				ovary(1)	1						c.(1426-1428)TTC>TTG		hypothetical protein LOC285093							66.0	75.0	72.0					2																	242815135		2064	4188	6252	SO:0001583	missense	285093					integral to membrane		g.chr2:242815135C>G																												ENST00000343216.3:c.1428C>G	2.37:g.242815135C>G	ENSP00000345374:p.Phe476Leu						p.F476L	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	1451	+			476						Missense_Mutation	SNP	ENST00000343216.3	37	c.1428C>G	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528629	0.27387	.	.	ENSG00000188011	ENST00000343216	T	0.27720	1.65	2.14	1.19	0.21007	.	.	.	.	.	T	0.19485	0.0468	N	0.19112	0.55	0.09310	N	1	P	0.47677	0.899	B	0.42851	0.4	T	0.10019	-1.0648	9	0.56958	D	0.05	-17.9061	6.4399	0.21845	0.0:0.6907:0.3093:0.0	.	476	Q14D33	CB085_HUMAN	L	476	ENSP00000345374:F476L	ENSP00000345374:F476L	F	+	3	2	C2orf85	242463808	0.000000	0.05858	0.006000	0.13384	0.031000	0.12232	0.287000	0.18920	0.429000	0.26202	0.196000	0.17591	TTC		0.627	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			21	69	0	0	0	0.010504	0	21	69				
DEFB126	81623	broad.mit.edu	37	20	126203	126203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:126203C>A	ENST00000382398.3	+	2	466	c.206C>A	c.(205-207)cCt>cAt	p.P69H	DEFB126_ENST00000542572.1_Intron	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	69					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTAATTATCCTGTTTTCTGT	0.428																																							uc002wcx.2		NA																	0					0						c.(205-207)CCT>CAT		defensin, beta 126 preproprotein							172.0	145.0	154.0					20																	126203		2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126203C>A		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.206C>A	20.37:g.126203C>A	ENSP00000371835:p.Pro69His						p.P69H	NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	224	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	69					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.206C>A	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389237	0.25118	.	.	ENSG00000125788	ENST00000382398	T	0.41065	1.01	2.06	1.08	0.20341	.	2.738010	0.01811	N	0.033466	T	0.50188	0.1601	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.37361	-0.9709	10	0.87932	D	0	-2.7215	5.8192	0.18518	0.3137:0.6863:0.0:0.0	.	69	Q9BYW3	DB126_HUMAN	H	69	ENSP00000371835:P69H	ENSP00000371835:P69H	P	+	2	0	DEFB126	74203	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.376000	0.20535	0.393000	0.25203	-0.310000	0.09108	CCT		0.428	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		19	32	1	0	6.49762e-13	0.006122	9.4072e-13	19	32				
TGM6	343641	broad.mit.edu	37	20	2375157	2375157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:2375157C>A	ENST00000202625.2	+	2	128	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TGM6_ENST00000381423.1_Missense_Mutation_p.Q23K|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	23					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCACCACACCCAGGAGTACCC	0.642																																							uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(67-69)CAG>AAG		transglutaminase 6	L-Glutamine(DB00130)						42.0	38.0	39.0					20																	2375157		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375157C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.67C>A	20.37:g.2375157C>A	ENSP00000202625:p.Gln23Lys					TGM6_uc010gal.1_Missense_Mutation_p.Q23K	p.Q23K	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	128	+			23					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.67C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319300	0.41096	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.85955	-2.05;-2.05	4.49	1.12	0.20585	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.745082	0.13103	N	0.413584	T	0.79857	0.4518	L	0.44542	1.39	0.24944	N	0.991832	B;B	0.24368	0.102;0.074	B;B	0.21151	0.029;0.033	T	0.70901	-0.4746	10	0.56958	D	0.05	-7.6967	13.4352	0.61079	0.0:0.3893:0.6107:0.0	.	23;23	O95932-2;O95932	.;TGM3L_HUMAN	K	23	ENSP00000202625:Q23K;ENSP00000370831:Q23K	ENSP00000202625:Q23K	Q	+	1	0	TGM6	2323157	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	-0.082000	0.11304	0.576000	0.29452	0.462000	0.41574	CAG		0.642	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		8	16	1	0	0.000274275	0.004482	0.000300993	8	16				
TGM6	343641	broad.mit.edu	37	20	2375918	2375918	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:2375918C>G	ENST00000202625.2	+	3	321	c.260C>G	c.(259-261)gCa>gGa	p.A87G	TGM6_ENST00000381423.1_Missense_Mutation_p.A87G|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	87					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGCTGGACAGCAGCAAGGGAG	0.612																																							uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(259-261)GCA>GGA		transglutaminase 6	L-Glutamine(DB00130)						61.0	51.0	54.0					20																	2375918		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375918C>G	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.260C>G	20.37:g.2375918C>G	ENSP00000202625:p.Ala87Gly					TGM6_uc010gal.1_Missense_Mutation_p.A87G	p.A87G	NM_198994	NP_945345	O95932	TGM3L_HUMAN			3	321	+			87					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.260C>G	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508842	0.44660	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.86694	-2.16;-2.16	4.5	4.5	0.54988	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.92077	3.27	0.38611	D	0.950902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96583	0.9432	10	0.87932	D	0	-20.1956	14.7371	0.69424	0.0:1.0:0.0:0.0	.	87;87	O95932-2;O95932	.;TGM3L_HUMAN	G	87	ENSP00000202625:A87G;ENSP00000370831:A87G	ENSP00000202625:A87G	A	+	2	0	TGM6	2323918	0.992000	0.36948	0.456000	0.27044	0.056000	0.15407	2.422000	0.44696	2.332000	0.79248	0.561000	0.74099	GCA		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	16	0	0	0	0.009096	0	4	16				
DDRGK1	65992	broad.mit.edu	37	20	3183950	3183950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:3183950C>A	ENST00000354488.3	-	2	261	c.204G>T	c.(202-204)agG>agT	p.R68S	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R68S	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	68						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TGCCCAGGTCCCTCCGGCGCC	0.697																																							uc002wic.2		NA																	0					0						c.(202-204)AGG>AGT		DDRGK domain containing 1 precursor							16.0	17.0	16.0					20																	3183950		2199	4294	6493	SO:0001583	missense	65992					endoplasmic reticulum	protein binding	g.chr20:3183950C>A	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.204G>T	20.37:g.3183950C>A	ENSP00000346483:p.Arg68Ser					DDRGK1_uc010gaw.2_RNA|DDRGK1_uc010gax.1_Missense_Mutation_p.R68S	p.R68S	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN			2	226	-			68					A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	c.204G>T	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654855	0.88056	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.52983	0.64	4.87	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.36672	1.1	0.45390	D	0.998373	D;D	0.76494	0.999;0.981	D;D	0.80764	0.994;0.966	T	0.43376	-0.9395	10	0.46703	T	0.11	-13.6571	7.4873	0.27441	0.0:0.4388:0.0:0.5612	.	68;68	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	S	68	ENSP00000346483:R68S	ENSP00000346483:R68S	R	-	3	2	DDRGK1	3131950	0.989000	0.36119	0.980000	0.43619	0.983000	0.72400	0.013000	0.13310	-0.011000	0.14247	0.561000	0.74099	AGG		0.697	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		5	4	1	0	0.000602214	0.000602	0.000654897	5	4				
AP5S1	55317	broad.mit.edu	37	20	3804570	3804570	+	Missense_Mutation	SNP	A	A	G	rs149938656		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:3804570A>G	ENST00000246041.2	+	3	448	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.M77V			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	77					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											CCGGCCCCCCATGGACCTGCA	0.652																																							uc002wjs.1		NA																	0				skin(1)	1						c.(229-231)ATG>GTG		hypothetical protein LOC55317		A	VAL/MET,VAL/MET,VAL/MET	2,4404	4.2+/-10.8	0,2,2201	30.0	34.0	33.0		229,229,229	-7.0	0.0	20	dbSNP_134	33	0,8600		0,0,4300	no	missense,missense,missense	C20orf29	NM_001204446.1,NM_001204447.1,NM_018347.2	21,21,21	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign,benign	77/201,77/201,77/201	3804570	2,13004	2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3804570A>G	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.229A>G	20.37:g.3804570A>G	ENSP00000246041:p.Met77Val					C20orf29_uc002wjt.2_Missense_Mutation_p.M1V|C20orf29_uc002wju.1_Missense_Mutation_p.M77V	p.M77V	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN			3	407	+			77					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.229A>G	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	A	3.340	-0.134810	0.06711	4.54E-4	0.0	ENSG00000125843	ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	6.07	-6.97	0.01616	.	1.521500	0.03138	N	0.166203	T	0.06645	0.0170	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	9	0.17369	T	0.5	0.4373	2.1419	0.03777	0.2239:0.1489:0.4034:0.2238	.	77	Q9NUS5	CT029_HUMAN	V	77	.	ENSP00000246041:M77V	M	+	1	0	C20orf29	3752570	0.000000	0.05858	0.000000	0.03702	0.961000	0.63080	-0.739000	0.04866	-1.079000	0.03113	0.529000	0.55759	ATG		0.652	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		11	25	0	0	0	0.001855	0	11	25				
TRMT6	51605	broad.mit.edu	37	20	5922665	5922665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:5922665C>A	ENST00000203001.2	-	8	1174	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R178S	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTTCTTGTCTCCTCTGTTTTT	0.428																																							uc002wmh.1		NA																	0				pancreas(1)	1						c.(1042-1044)AGG>AGT		tRNA methyltransferase 6							192.0	185.0	188.0					20																	5922665		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5922665C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1044G>T	20.37:g.5922665C>A	ENSP00000203001:p.Arg348Ser					TRMT6_uc010zra.1_Missense_Mutation_p.R178S|TRMT6_uc010gbn.1_3'UTR	p.R348S	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			8	1166	-			348					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.1044G>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692317	0.30052	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.24538	1.88;1.85	6.17	2.84	0.33178	.	0.265266	0.43110	D	0.000602	T	0.17066	0.0410	L	0.55481	1.735	0.46078	D	0.998855	B	0.31026	0.304	B	0.21708	0.036	T	0.04203	-1.0969	10	0.09590	T	0.72	-10.1217	6.5197	0.22269	0.1497:0.6366:0.0:0.2136	.	348	Q9UJA5	TRM6_HUMAN	S	348;178	ENSP00000203001:R348S;ENSP00000392070:R178S	ENSP00000203001:R348S	R	-	3	2	TRMT6	5870665	0.991000	0.36638	0.983000	0.44433	0.992000	0.81027	0.934000	0.28910	0.907000	0.36646	0.655000	0.94253	AGG		0.428	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			39	68	1	0	1.465e-08	0.00874	1.89126e-08	39	68				
FERMT1	55612	broad.mit.edu	37	20	6065747	6065747	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:6065747G>A	ENST00000217289.4	-	12	2347	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.S263L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	520	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACACCGTGGTGACACAAAACA	0.393																																							uc002wmr.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1558-1560)TCA>TTA		kindlin-1							135.0	121.0	126.0					20																	6065747		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065747G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1559C>T	20.37:g.6065747G>A	ENSP00000217289:p.Ser520Leu					FERMT1_uc002wmq.2_Missense_Mutation_p.S73L|FERMT1_uc010gbt.2_Missense_Mutation_p.S263L	p.S520L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN			12	2348	-			520			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1559C>T	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.752974	0.89753	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.73152	-0.72;-0.72	5.17	5.17	0.71159	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.85964	0.1472	10	0.62326	D	0.03	-25.9727	19.0514	0.93049	0.0:0.0:1.0:0.0	.	520	Q9BQL6	FERM1_HUMAN	L	520;263;520	ENSP00000217289:S520L;ENSP00000441063:S263L	ENSP00000217289:S520L	S	-	2	0	FERMT1	6013747	1.000000	0.71417	0.982000	0.44146	0.596000	0.36781	9.799000	0.99117	2.552000	0.86080	0.556000	0.70494	TCA		0.393	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		31	57	0	0	0	0.002445	0	31	57				
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:8665694C>G	ENST00000338037.6	+	10	1005	c.978C>G	c.(976-978)ttC>ttG	p.F326L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F326L|PLCB1_ENST00000378641.3_Missense_Mutation_p.F326L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(976-978)TTC>TTG		phosphoinositide-specific phospholipase C beta 1							200.0	198.0	199.0					20																	8665694		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8665694C>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.978C>G	20.37:g.8665694C>G	ENSP00000338185:p.Phe326Leu					PLCB1_uc010zrb.1_Missense_Mutation_p.F225L|PLCB1_uc002wna.2_Missense_Mutation_p.F326L|PLCB1_uc002wnc.1_Missense_Mutation_p.F225L	p.F326L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			10	981	+			326			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.978C>G	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955511	0.92726	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.62788	-0.0;-0.0;-0.0	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.88906	2.99	0.58432	D	0.999997	D;D	0.56521	0.967;0.976	P;P	0.62014	0.897;0.793	T	0.82279	-0.0536	10	0.54805	T	0.06	.	14.5093	0.67774	0.0:0.9299:0.0:0.0701	.	326;326	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	326;326;326;246;246	ENSP00000367908:F326L;ENSP00000338185:F326L;ENSP00000367904:F326L	ENSP00000338185:F326L	F	+	3	2	PLCB1	8613694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.633000	0.46519	2.880000	0.98712	0.650000	0.86243	TTC		0.413	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			50	95	0	0	0	0.00361	0	50	95				
PLCB4	5332	broad.mit.edu	37	20	9402085	9402085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:9402085G>T	ENST00000378493.1	+	23	2275	c.2260G>T	c.(2260-2262)Gaa>Taa	p.E754*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.E766*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.E766*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.E754*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.E754*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.E754*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	754	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						AGTTTACAATGAAGAGTCATT	0.418																																							uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(2260-2262)GAA>TAA		phospholipase C beta 4 isoform b							135.0	120.0	125.0					20																	9402085		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.chr20:9402085G>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.2260G>T	20.37:g.9402085G>T	ENSP00000367754:p.Glu754*					PLCB4_uc010gbw.1_Nonsense_Mutation_p.E754*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.E766*|PLCB4_uc002wne.2_Nonsense_Mutation_p.E754*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.E601*	p.E754*	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			25	2396	+			754			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2260G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	42	9.749618	0.99255	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.8	5.8	0.92144	.	0.102733	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	X	754;766;754;754;754;602	.	ENSP00000278655:E754X	E	+	1	0	PLCB4	9350085	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.876000	0.87215	2.758000	0.94735	0.563000	0.77884	GAA		0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			17	33	1	0	1.01871e-10	0.008871	1.38714e-10	17	33				
RRBP1	6238	broad.mit.edu	37	20	17600359	17600359	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:17600359C>T	ENST00000377813.1	-	19	3897	c.3594G>A	c.(3592-3594)acG>acA	p.T1198T	RRBP1_ENST00000455029.2_Silent_p.T539T|RRBP1_ENST00000360807.4_Silent_p.T765T|RRBP1_ENST00000377807.2_Silent_p.T765T|RRBP1_ENST00000246043.4_Silent_p.T1198T|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1198					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCAAATGCGACGTGTGCTCCC	0.652																																							uc002wpv.1		NA																	0				ovary(1)	1						c.(2293-2295)ACG>ACA		ribosome binding protein 1							60.0	42.0	48.0					20																	17600359		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17600359C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3594G>A	20.37:g.17600359C>T						RRBP1_uc010zrp.1_5'UTR|RRBP1_uc002wpt.1_Silent_p.T135T|RRBP1_uc002wpu.2_Silent_p.T539T|RRBP1_uc002wpw.1_Silent_p.T765T|RRBP1_uc010gcl.1_Silent_p.T539T	p.T765T	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			20	2649	-			1198			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.2295G>A																																																																																					0.652	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	25	0	0	0	0.008291	0	10	25				
CST2	1470	broad.mit.edu	37	20	23804722	23804722	+	Missense_Mutation	SNP	G	G	T	rs200469888		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:23804722G>T	ENST00000304725.2	-	3	431	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	121					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGTAGATCTGGAAAGAGCAC	0.517																																					Pancreas(193;496 3017 22514 29918)	Pancreas(193;496 3017 22514 29918)	uc002wtq.1		NA																	0					0						c.(361-363)CAG>AAG		cystatin SA precursor							116.0	99.0	105.0					20																	23804722		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23804722G>T	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.361C>A	20.37:g.23804722G>T	ENSP00000307540:p.Gln121Lys						p.Q121K	NM_001322	NP_001313	P09228	CYTT_HUMAN			3	376	-			121					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.361C>A	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	g	3.163	-0.171643	0.06421	.	.	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.09	-0.151	0.13411	Proteinase inhibitor I25, cystatin (2);	0.825698	0.10838	N	0.628508	T	0.24736	0.0600	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.35176	-0.9799	10	0.16420	T	0.52	.	9.4393	0.38659	0.0:0.4716:0.5283:0.0	.	121	P09228	CYTT_HUMAN	K	121	ENSP00000307540:Q121K	ENSP00000307540:Q121K	Q	-	1	0	CST2	23752722	0.042000	0.20092	0.008000	0.14137	0.004000	0.04260	-0.115000	0.10741	-0.314000	0.08716	-2.747000	0.00125	CAG		0.517	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			17	29	1	0	1.67942e-08	0.006122	2.14882e-08	17	29				
NINL	22981	broad.mit.edu	37	20	25457663	25457663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:25457663C>T	ENST00000278886.6	-	17	2337	c.2264G>A	c.(2263-2265)aGa>aAa	p.R755K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	755					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCAGGTCTCTGCGAGCGGG	0.682																																							uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2263-2265)AGA>AAA		ninein-like							15.0	16.0	16.0					20																	25457663		2200	4299	6499	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457663C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2264G>A	20.37:g.25457663C>T	ENSP00000278886:p.Arg755Lys					NINL_uc010gdn.1_Intron	p.R755K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	2338	-			755					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2264G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.232064	0.01505	.	.	ENSG00000101004	ENST00000278886	T	0.24908	1.83	2.58	-0.0351	0.13894	.	3.080210	0.01263	N	0.009243	T	0.10380	0.0254	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	10	0.05436	T	0.98	3.5991	4.546	0.12081	0.0:0.3235:0.0:0.6765	.	755	Q9Y2I6	NINL_HUMAN	K	755	ENSP00000278886:R755K	ENSP00000278886:R755K	R	-	2	0	NINL	25405663	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.121000	0.15667	0.027000	0.15297	-0.672000	0.03802	AGA		0.682	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	15	0	0	0	0.001984	0	6	15				
EDEM2	55741	broad.mit.edu	37	20	33722565	33722565	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:33722565C>A	ENST00000374492.3	-	6	783	c.678G>T	c.(676-678)tgG>tgT	p.W226C	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Missense_Mutation_p.W185C|EDEM2_ENST00000374491.3_Missense_Mutation_p.W189C	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	226					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.W226*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCGGCTCTCCCAGAGGCGCA	0.567																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(676-678)TGG>TGT		ER degradation enhancer, mannosidase alpha-like							79.0	73.0	75.0					20																	33722565		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722565C>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.678G>T	20.37:g.33722565C>A	ENSP00000363616:p.Trp226Cys					EDEM2_uc010zuv.1_Missense_Mutation_p.W185C|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.W189C|EDEM2_uc010zut.1_Missense_Mutation_p.W185C|EDEM2_uc002xbp.2_Missense_Mutation_p.W74C|EDEM2_uc002xbn.2_Missense_Mutation_p.W74C|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	p.W226C	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		6	778	-			226					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.678G>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932986	0.92458	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.73152	-0.72;-0.72;-0.72	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.986;0.992	D	0.89542	0.3793	10	0.87932	D	0	-10.4425	20.5827	0.99408	0.0:1.0:0.0:0.0	.	185;189;226	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	C	189;226;185	ENSP00000363615:W189C;ENSP00000363616:W226C;ENSP00000441548:W185C	ENSP00000363615:W189C	W	-	3	0	EDEM2	33186226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.941000	0.99782	0.655000	0.94253	TGG		0.567	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		29	20	1	0	9.04072e-19	0.003271	1.51238e-18	29	20				
AAR2	25980	broad.mit.edu	37	20	34827870	34827870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:34827870C>A	ENST00000373932.3	+	2	426	c.80C>A	c.(79-81)cCc>cAc	p.P27H	AAR2_ENST00000320849.4_Missense_Mutation_p.P27H|AAR2_ENST00000397286.3_Missense_Mutation_p.P27H	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	27																	CTGAACATGCCCAAGGGAACA	0.582																																							uc002xfc.1		NA																	0					0						c.(79-81)CCC>CAC		hypothetical protein LOC25980							62.0	61.0	61.0					20																	34827870		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34827870C>A		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.80C>A	20.37:g.34827870C>A	ENSP00000363043:p.Pro27His					C20orf4_uc002xfd.1_Missense_Mutation_p.P27H|C20orf4_uc002xfe.1_Missense_Mutation_p.P27H	p.P27H	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	173	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	27					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.80C>A	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827094	0.71143	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.59083	0.29;0.29;0.29	5.03	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82676	-0.0339	10	0.62326	D	0.03	.	12.3533	0.55161	0.0:0.918:0.0:0.082	.	27;27	A2A2Q9;Q9Y312	.;CT004_HUMAN	H	27	ENSP00000380455:P27H;ENSP00000313674:P27H;ENSP00000363043:P27H	ENSP00000313674:P27H	P	+	2	0	C20orf4	34291284	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.920000	0.75799	1.487000	0.48415	0.655000	0.94253	CCC		0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		40	40	1	0	3.05275e-18	0.003214	5.03668e-18	40	40				
KIAA1755	85449	broad.mit.edu	37	20	36841559	36841559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:36841559G>T	ENST00000279024.4	-	14	3759	c.3488C>A	c.(3487-3489)cCc>cAc	p.P1163H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1163										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGCCTGGGGGGCTGCTGCCG	0.647																																							uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(3487-3489)CCC>CAC		hypothetical protein LOC85449							39.0	42.0	41.0					20																	36841559		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841559G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3488C>A	20.37:g.36841559G>T	ENSP00000279024:p.Pro1163His					KIAA1755_uc002xhv.1_Missense_Mutation_p.P227H|KIAA1755_uc002xhw.1_Missense_Mutation_p.P218H|KIAA1755_uc002xhx.1_Missense_Mutation_p.P441H	p.P1163H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			14	3760	-		Myeloproliferative disorder(115;0.00874)	1163					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3488C>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095795	0.36952	.	.	ENSG00000149633	ENST00000279024	T	0.06528	3.29	4.67	2.39	0.29439	.	0.321330	0.22534	N	0.058814	T	0.06096	0.0158	L	0.36672	1.1	0.09310	N	1	P	0.46277	0.875	B	0.43754	0.43	T	0.28004	-1.0057	10	0.62326	D	0.03	.	5.256	0.15548	0.7361:0.0:0.2639:0.0	.	1163	Q5JYT7	K1755_HUMAN	H	1163	ENSP00000279024:P1163H	ENSP00000279024:P1163H	P	-	2	0	KIAA1755	36274973	0.221000	0.23642	0.029000	0.17559	0.130000	0.20726	0.093000	0.15086	0.304000	0.22809	0.561000	0.74099	CCC		0.647	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		37	34	1	0	8.16277e-20	0.006999	1.3897e-19	37	34				
PTPRT	11122	broad.mit.edu	37	20	40710553	40710553	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:40710553C>T	ENST00000373187.1	-	30	4240	c.4241G>A	c.(4240-4242)cGt>cAt	p.R1414H	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1433H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGTTGTTACGCAGTGTTTT	0.507																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(4240-4242)CGT>CAT		protein tyrosine phosphatase, receptor type, T							186.0	187.0	186.0					20																	40710553		2090	4220	6310	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710553C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4241G>A	20.37:g.40710553C>T	ENSP00000362283:p.Arg1414His					PTPRT_uc010ggj.2_Missense_Mutation_p.R1433H|PTPRT_uc010ggi.2_Missense_Mutation_p.R617H	p.R1414H	NM_007050	NP_008981	O14522	PTPRT_HUMAN			30	4425	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1414			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4241G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487204	0.96323	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1436;1414	O14522-1;O14522	.;PTPRT_HUMAN	H	1413;1414;1417;1423;1436;1424;1404	ENSP00000362286:R1413H;ENSP00000362283:R1414H;ENSP00000362289:R1417H;ENSP00000348408:R1423H;ENSP00000362294:R1436H;ENSP00000362280:R1424H;ENSP00000362297:R1404H	ENSP00000348408:R1423H	R	-	2	0	PTPRT	40143967	1.000000	0.71417	0.040000	0.18447	0.943000	0.58893	7.792000	0.85828	2.884000	0.98904	0.655000	0.94253	CGT		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			38	59	0	0	0	0.007835	0	38	59				
TOX2	84969	broad.mit.edu	37	20	42679966	42679966	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:42679966G>T	ENST00000358131.5	+	4	667	c.459G>T	c.(457-459)tcG>tcT	p.S153S	TOX2_ENST00000372999.1_Silent_p.S102S|TOX2_ENST00000341197.4_Silent_p.S144S|TOX2_ENST00000423191.2_Silent_p.S102S|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	153					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S153S(1)|p.S102S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTCCACTCGGAAGTGGCTG	0.612																																							uc002xlf.3		NA																	2	Substitution - coding silent(2)		endometrium(2)	ovary(1)	1						c.(457-459)TCG>TCT		TOX high mobility group box family member 2							42.0	45.0	44.0					20																	42679966		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42679966G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.459G>T	20.37:g.42679966G>T						TOX2_uc010ggo.2_Silent_p.S144S|TOX2_uc002xle.3_Silent_p.S102S|TOX2_uc010ggp.2_Silent_p.S102S|TOX2_uc002xlg.2_Silent_p.S102S|TOX2_uc010zwk.1_Silent_p.S22S	p.S153S	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	476	+		Myeloproliferative disorder(115;0.00452)	153					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.459G>T	CCDS42875.1																																																																																				0.612	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			44	14	1	0	4.67007e-22	0.00874	8.16271e-22	44	14				
TOX2	84969	broad.mit.edu	37	20	42680075	42680075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:42680075G>T	ENST00000358131.5	+	4	776	c.568G>T	c.(568-570)Ggc>Tgc	p.G190C	TOX2_ENST00000372999.1_Missense_Mutation_p.G139C|TOX2_ENST00000341197.4_Missense_Mutation_p.G181C|TOX2_ENST00000423191.2_Missense_Mutation_p.G139C|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	190					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCGCAGATGGGCATCCGGAG	0.677																																							uc002xlf.3		NA																	0				ovary(1)	1						c.(568-570)GGC>TGC		TOX high mobility group box family member 2							36.0	33.0	34.0					20																	42680075		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42680075G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.568G>T	20.37:g.42680075G>T	ENSP00000350849:p.Gly190Cys					TOX2_uc010ggo.2_Missense_Mutation_p.G181C|TOX2_uc002xle.3_Missense_Mutation_p.G139C|TOX2_uc010ggp.2_Missense_Mutation_p.G139C|TOX2_uc002xlg.2_Missense_Mutation_p.G139C|TOX2_uc010zwk.1_Missense_Mutation_p.G59C	p.G190C	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	585	+		Myeloproliferative disorder(115;0.00452)	190					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.568G>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806095	0.70682	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.51574	1.91;0.7;1.91;1.91;1.91;2.2	5.76	5.76	0.90799	.	0.177769	0.50627	D	0.000108	T	0.66703	0.2816	L	0.56199	1.76	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.936;0.971;1.0;0.962;0.936	T	0.67428	-0.5673	10	0.87932	D	0	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	59;181;139;190;139	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	C	181;139;139;139;190;59	ENSP00000344724:G181C;ENSP00000396584:G139C;ENSP00000390278:G139C;ENSP00000362090:G139C;ENSP00000350849:G190C;ENSP00000396777:G59C	ENSP00000344724:G181C	G	+	1	0	TOX2	42113489	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	6.338000	0.72963	2.706000	0.92434	0.655000	0.94253	GGC		0.677	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			4	24	1	0	1.024e-07	0.000602	1.28401e-07	4	24				
HNF4A	3172	broad.mit.edu	37	20	43058302	43058302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:43058302C>A	ENST00000316099.4	+	10	1511	c.1422C>A	c.(1420-1422)atC>atA	p.I474I	HNF4A_ENST00000415691.2_Silent_p.I464I|HNF4A_ENST00000316673.4_Silent_p.I452I|HNF4A_ENST00000457232.1_Silent_p.I442I	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	474					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGAAGTTATCTAGCAAGCCG	0.627																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1420-1422)ATC>ATA		hepatocyte nuclear factor 4 alpha isoform b							55.0	57.0	56.0					20																	43058302		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43058302C>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1422C>A	20.37:g.43058302C>A						HNF4A_uc002xlu.2_Silent_p.I442I|HNF4A_uc002xlv.2_Silent_p.I452I|HNF4A_uc002xlz.2_Silent_p.I464I|HNF4A_uc010ggq.2_Silent_p.I467I	p.I474I	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		10	1511	+		Myeloproliferative disorder(115;0.0122)	474					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.1422C>A	CCDS13330.1																																																																																				0.627	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			25	109	1	0	2.41591e-17	0.004656	3.8968e-17	25	109				
WFDC5	149708	broad.mit.edu	37	20	43739107	43739107	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:43739107C>A	ENST00000307971.4	-	3	379	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	WFDC5_ENST00000372789.4_Missense_Mutation_p.D101Y			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	101	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCCGAGCAGTCTGAGTCCTTG	0.647																																					NSCLC(199;98 2227 9943 13455 41914)	NSCLC(199;98 2227 9943 13455 41914)	uc002xne.1		NA																	0				ovary(1)	1						c.(301-303)GAC>TAC		WAP four-disulfide core domain 5 precursor							38.0	36.0	37.0					20																	43739107		2203	4300	6503	SO:0001583	missense	149708					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43739107C>A	AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"""WAP four-disulfide core domain containing"""	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.301G>T	20.37:g.43739107C>A	ENSP00000312381:p.Asp101Tyr						p.D101Y	NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN			3	380	-		Myeloproliferative disorder(115;0.0122)	101			WAP 2.		Q5H981|Q6UWE4	Missense_Mutation	SNP	ENST00000307971.4	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311218	0.40895	.	.	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.76316	-1.01;-1.01	5.08	4.13	0.48395	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.114830	0.38778	N	0.001569	D	0.89417	0.6709	M	0.93420	3.415	0.33861	D	0.63377	D	0.76494	0.999	D	0.77004	0.989	D	0.92926	0.6359	10	0.87932	D	0	-27.0616	9.8484	0.41041	0.0:0.902:0.0:0.098	.	101	Q8TCV5	WFDC5_HUMAN	Y	101	ENSP00000361875:D101Y;ENSP00000312381:D101Y	ENSP00000312381:D101Y	D	-	1	0	WFDC5	43172521	0.709000	0.27886	0.937000	0.37676	0.050000	0.14768	0.975000	0.29449	2.369000	0.80426	0.467000	0.42956	GAC		0.647	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1			4	13	1	0	0.00024832	0.009096	0.00027355	4	13				
CTSA	5476	broad.mit.edu	37	20	44527062	44527062	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:44527062C>T	ENST00000372459.2	+	14	1609	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	CTSA_ENST00000354880.5_Silent_p.S473S|CTSA_ENST00000372484.3_Silent_p.S490S|CTSA_ENST00000191018.5_Silent_p.S472S			P10619	PPGB_HUMAN	cathepsin A	472					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCATGTTCTCCCGCTTCCTGA	0.612																																							uc002xqj.3		NA																	0				ovary(1)	1						c.(1414-1416)TCC>TCT		cathepsin A isoform b precursor							78.0	56.0	63.0					20																	44527062		2203	4300	6503	SO:0001819	synonymous_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44527062C>T	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.1416C>T	20.37:g.44527062C>T						CTSA_uc002xqh.2_Silent_p.S490S|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.S473S|CTSA_uc002xqk.3_Silent_p.S472S	p.S472S	NM_001127695	NP_001121167	P10619	PPGB_HUMAN			15	1890	+		Myeloproliferative disorder(115;0.0122)	472					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Silent	SNP	ENST00000372459.2	37	c.1416C>T	CCDS46609.1																																																																																				0.612	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		4	33	0	0	0	0.000602	0	4	33				
ZNF335	63925	broad.mit.edu	37	20	44578493	44578493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:44578493C>G	ENST00000322927.2	-	24	3715	c.3615G>C	c.(3613-3615)gaG>gaC	p.E1205D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1050D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1205	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCGTGGTGATCTCTTGGATGT	0.597																																							uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(3613-3615)GAG>GAC		zinc finger protein 335							155.0	126.0	136.0					20																	44578493		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578493C>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3615G>C	20.37:g.44578493C>G	ENSP00000325326:p.Glu1205Asp					ZNF335_uc002xqv.2_Missense_Mutation_p.E317D|ZNF335_uc010zxk.1_Missense_Mutation_p.E1050D	p.E1205D	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			24	3738	-		Myeloproliferative disorder(115;0.0122)	1205			Gln-rich.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3615G>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446387	0.63178	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.44482	0.92;0.92	4.78	2.52	0.30459	.	0.206931	0.43747	D	0.000540	T	0.38188	0.1031	N	0.19112	0.55	0.41967	D	0.990739	D;D	0.58620	0.983;0.972	P;P	0.57720	0.826;0.6	T	0.09552	-1.0669	10	0.33940	T	0.23	-31.9051	8.2629	0.31797	0.0:0.7723:0.0:0.2277	.	1050;1205	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	1205;982;1050	ENSP00000325326:E1205D;ENSP00000397098:E1050D	ENSP00000243961:E982D	E	-	3	2	ZNF335	44011900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.278000	0.33179	0.529000	0.28599	0.561000	0.74099	GAG		0.597	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		37	38	0	0	0	0.005524	0	37	38				
SLC13A3	64849	broad.mit.edu	37	20	45224895	45224895	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:45224895T>A	ENST00000279027.4	-	5	713	c.695A>T	c.(694-696)aAg>aTg	p.K232M	SLC13A3_ENST00000413164.2_Missense_Mutation_p.R210W|SLC13A3_ENST00000435032.1_De_novo_Start_OutOfFrame|SLC13A3_ENST00000396360.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.K185M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R210W|SLC13A3_ENST00000472148.1_Missense_Mutation_p.K185M	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	232					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGAAGCCCTTCCAGATGTT	0.562																																							uc002xsf.1		NA																	0				ovary(1)	1						c.(694-696)AAG>ATG		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						143.0	125.0	132.0					20																	45224895		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45224895T>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.695A>T	20.37:g.45224895T>A	ENSP00000279027:p.Lys232Met					SLC13A3_uc010ghn.1_Missense_Mutation_p.K201M|SLC13A3_uc010zxw.1_Missense_Mutation_p.R210W|SLC13A3_uc002xsg.1_Missense_Mutation_p.K185M|SLC13A3_uc010gho.1_Missense_Mutation_p.K185M|SLC13A3_uc010zxx.1_Missense_Mutation_p.K134M	p.K232M	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			5	733	-		Myeloproliferative disorder(115;0.0122)	232			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.695A>T	CCDS13400.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.5|25.5|25.5	4.642553|4.642553|4.642553	0.87859|0.87859|0.87859	.|.|.	.|.|.	ENSG00000158296|ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915|ENST00000413164;ENST00000420568;ENST00000372121	.|T;T;T;T;T;T|T;T;T	.|0.03065|0.10099	.|4.06;4.06;4.06;4.06;4.06;4.06|3.62;2.91;2.91	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	.|0.046170|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.15696|0.15696|0.15696	0.0378|0.0378|0.0378	M|M|M	0.66439|0.66439|0.66439	2.03|2.03|2.03	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|P	.|0.89917|0.45396	.|0.999;1.0;1.0|0.857	.|D;D;D|B	.|0.76575|0.39531	.|0.953;0.972;0.988|0.302	T|T|T	0.01405|0.01405|0.01405	-1.1363|-1.1363|-1.1363	5|10|9	.|0.87932|0.54805	.|D|T	.|0|0.06	-27.7186|-27.7186|-27.7186	15.7996|15.7996|15.7996	0.78443|0.78443|0.78443	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|185;185;232|210	.|Q8WWT9-3;F6WI18;Q8WWT9|B4DIR8	.|.;.;S13A3_HUMAN|.	D|M|W	61|185;185;232;185;185;185|210;173;210	.|ENSP00000290317:K185M;ENSP00000379648:K185M;ENSP00000279027:K232M;ENSP00000420177:K185M;ENSP00000419621:K185M;ENSP00000417784:K185M|ENSP00000415852:R210W;ENSP00000395095:R173W;ENSP00000361193:R210W	.|ENSP00000279027:K232M|ENSP00000361193:R210W	E|K|R	-|-|-	3|2|1	2|0|2	SLC13A3|SLC13A3|SLC13A3	44658302|44658302|44658302	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	7.698000|7.698000|7.698000	0.84413|0.84413|0.84413	2.133000|2.133000|2.133000	0.65898|0.65898|0.65898	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGG		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			18	90	0	0	0	0.007413	0	18	90				
EYA2	2139	broad.mit.edu	37	20	45717947	45717947	+	Missense_Mutation	SNP	C	C	A	rs267605970		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:45717947C>A	ENST00000327619.5	+	8	1105	c.731C>A	c.(730-732)gCc>gAc	p.A244D	EYA2_ENST00000357410.3_Missense_Mutation_p.A244D|EYA2_ENST00000317304.6_Missense_Mutation_p.A244D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	244					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCGCACCGGGCCTCCGACGGG	0.577																																					Pancreas(120;56 1725 18501 25218 43520)	Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NA																	0				ovary(1)	1						c.(730-732)GCC>GAC		eyes absent 2 isoform a							76.0	78.0	77.0					20																	45717947		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45717947C>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.731C>A	20.37:g.45717947C>A	ENSP00000333640:p.Ala244Asp					EYA2_uc010ghp.2_Missense_Mutation_p.A244D|EYA2_uc002xsn.2_Missense_Mutation_p.A249D|EYA2_uc002xso.2_Missense_Mutation_p.A244D|EYA2_uc002xsp.2_Missense_Mutation_p.A244D|EYA2_uc002xsq.2_Missense_Mutation_p.A244D	p.A244D	NM_005244	NP_005235	O00167	EYA2_HUMAN			8	1105	+		Myeloproliferative disorder(115;0.0241)	244					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.731C>A	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	7.698	0.692476	0.15039	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.87	4.91	0.64330	.	0.051026	0.85682	D	0.000000	T	0.78717	0.4327	L	0.29908	0.895	0.39361	D	0.96592	D;P;P;P	0.58970	0.984;0.554;0.73;0.73	P;B;P;P	0.53689	0.732;0.389;0.474;0.474	T	0.79347	-0.1841	10	0.45353	T	0.12	-18.2564	13.2641	0.60122	0.0:0.6213:0.3786:0.0	.	244;244;244;244	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	D	244;244;244;244;115	ENSP00000333640:A244D;ENSP00000349986:A244D;ENSP00000321590:A244D;ENSP00000395427:A115D	ENSP00000321590:A244D	A	+	2	0	EYA2	45151354	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.847000	0.55895	2.785000	0.95823	0.655000	0.94253	GCC		0.577	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		40	66	1	0	9.85913e-13	0.009718	1.42596e-12	40	66				
KCNB1	3745	broad.mit.edu	37	20	47989796	47989796	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:47989796G>T	ENST00000371741.4	-	2	2467	c.2301C>A	c.(2299-2301)ctC>ctA	p.L767L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	767					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CCACACTGTAGAGCAGCTGTC	0.562																																							uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(2299-2301)CTC>CTA		potassium voltage-gated channel, Shab-related							190.0	204.0	199.0					20																	47989796		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989796G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2301C>A	20.37:g.47989796G>T						KCNB1_uc002xus.1_Silent_p.L767L	p.L767L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2465	-			767			Cytoplasmic (Potential).		Q14193	Silent	SNP	ENST00000371741.4	37	c.2301C>A	CCDS13418.1																																																																																				0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		202	227	1	0	2.24254e-89	0.00361	4.36993e-89	202	227				
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:48129705C>T	ENST00000244043.4	-	8	1147	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602																																							uc002xut.2		NA																	0				skin(2)|ovary(1)	3						c.(1117-1119)CGA>CAA		prostaglandin I2 synthase	Phenylbutazone(DB00812)						101.0	91.0	94.0					20																	48129705		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48129705C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1118G>A	20.37:g.48129705C>T	ENSP00000244043:p.Arg373Gln					PTGIS_uc010zyi.1_Missense_Mutation_p.R234Q	p.R373Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	1172	-			373					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1118G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131376	0.21041	.	.	ENSG00000124212	ENST00000244043	T	0.64260	-0.09	4.75	4.75	0.60458	.	0.214189	0.41097	D	0.000952	T	0.32971	0.0847	N	0.16833	0.445	0.33887	D	0.63683	P	0.42908	0.793	B	0.24701	0.055	T	0.48927	-0.8991	10	0.08837	T	0.75	-17.9357	10.236	0.43284	0.0:0.9068:0.0:0.0932	.	373	Q16647	PTGIS_HUMAN	Q	373	ENSP00000244043:R373Q	ENSP00000244043:R373Q	R	-	2	0	PTGIS	47563112	0.963000	0.33076	1.000000	0.80357	0.957000	0.61999	1.160000	0.31761	2.202000	0.70862	0.561000	0.74099	CGA		0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			33	92	0	0	0	0.003271	0	33	92				
SPATA2	9825	broad.mit.edu	37	20	48522819	48522819	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:48522819G>A	ENST00000422556.1	-	3	1249	c.900C>T	c.(898-900)acC>acT	p.T300T	SPATA2_ENST00000289431.5_Silent_p.T300T|SPATA2_ENST00000543716.1_Silent_p.T163T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	300					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGCTGGCCATGGTCAGCAGCG	0.652																																							uc010gie.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(898-900)ACC>ACT		spermatogenesis associated 2							49.0	53.0	52.0					20																	48522819		2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522819G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.900C>T	20.37:g.48522819G>A						SPATA2_uc002xuw.2_Silent_p.T300T|SPATA2_uc010zyn.1_Silent_p.T163T	p.T300T	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1250	-	Hepatocellular(150;0.133)		300					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.900C>T	CCDS13422.1																																																																																				0.652	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		52	61	0	0	0	0.00361	0	52	61				
FAM65C	140876	broad.mit.edu	37	20	49208924	49208924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:49208924G>A	ENST00000327979.2	-	19	2933	c.2522C>T	c.(2521-2523)gCt>gTt	p.A841V	FAM65C_ENST00000462842.1_5'Flank|FAM65C_ENST00000535356.1_Missense_Mutation_p.A845V|FAM65C_ENST00000045083.2_Missense_Mutation_p.A841V			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	841										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGGCGAGCGCTGGCCGC	0.657																																							uc002xvm.2		NA																	0				ovary(2)	2						c.(2521-2523)GCT>GTT		hypothetical protein LOC140876							38.0	42.0	41.0					20																	49208924		2018	4153	6171	SO:0001583	missense	140876							g.chr20:49208924G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2522C>T	20.37:g.49208924G>A	ENSP00000332663:p.Ala841Val					FAM65C_uc010zyt.1_Missense_Mutation_p.A845V	p.A841V	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			19	2840	-			841					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.2522C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	1.127	-0.653421	0.03480	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.77877	-1.13;-1.13;-1.13	4.81	2.8	0.32819	.	0.987152	0.08223	U	0.978795	T	0.72542	0.3473	L	0.56769	1.78	0.09310	N	1	B;B	0.26120	0.142;0.082	B;B	0.32022	0.139;0.036	T	0.56860	-0.7909	10	0.22109	T	0.4	0.6653	4.9454	0.13987	0.238:0.0:0.615:0.147	.	845;841	F5H0X2;Q96MK2	.;FA65C_HUMAN	V	841;841;845	ENSP00000332663:A841V;ENSP00000045083:A841V;ENSP00000439802:A845V	ENSP00000045083:A841V	A	-	2	0	FAM65C	48642331	0.001000	0.12720	0.001000	0.08648	0.082000	0.17680	1.109000	0.31135	0.422000	0.26005	0.462000	0.41574	GCT		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			25	63	0	0	0	0.008361	0	25	63				
PARD6B	84612	broad.mit.edu	37	20	49366697	49366697	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:49366697G>T	ENST00000371610.2	+	3	1034	c.791G>T	c.(790-792)aGt>aTt	p.S264I	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	264					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACTTCTGGCAGTTCCGGTCAG	0.463																																							uc002xvo.2		NA																	0				kidney(1)	1						c.(790-792)AGT>ATT		PAR-6 beta							135.0	133.0	133.0					20																	49366697		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366697G>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.791G>T	20.37:g.49366697G>T	ENSP00000360672:p.Ser264Ile						p.S264I	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			3	1034	+			264					A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.791G>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195710	0.78902	.	.	ENSG00000124171	ENST00000371610	T	0.18502	2.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.77103	2.36	0.80722	D	1	D	0.55172	0.97	P	0.52066	0.689	T	0.11494	-1.0585	10	0.56958	D	0.05	-42.9659	20.1001	0.97870	0.0:0.0:1.0:0.0	.	264	Q9BYG5	PAR6B_HUMAN	I	264	ENSP00000360672:S264I	ENSP00000360672:S264I	S	+	2	0	PARD6B	48800104	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	9.383000	0.97214	2.760000	0.94817	0.655000	0.94253	AGT		0.463	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		63	120	1	0	1.7104e-27	0.00361	3.14993e-27	63	120				
SALL4	57167	broad.mit.edu	37	20	50407075	50407075	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:50407075C>A	ENST00000217086.4	-	2	2058	c.1947G>T	c.(1945-1947)atG>atT	p.M649I	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	649					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTGACCGCCCATGTGCATCC	0.547																																							uc002xwh.3		NA																	0				ovary(2)	2						c.(1945-1947)ATG>ATT		sal-like 4							65.0	56.0	59.0					20																	50407075		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407075C>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1947G>T	20.37:g.50407075C>A	ENSP00000217086:p.Met649Ile					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.M649I	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	2048	-			649					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1947G>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443253	0.83993	.	.	ENSG00000101115	ENST00000217086	T	0.14391	2.51	5.56	5.56	0.83823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000033	T	0.21881	0.0527	N	0.05510	-0.035	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.33059	-0.9883	10	0.56958	D	0.05	-31.3325	19.5251	0.95201	0.0:1.0:0.0:0.0	.	649	Q9UJQ4	SALL4_HUMAN	I	649	ENSP00000217086:M649I	ENSP00000217086:M649I	M	-	3	0	SALL4	49840482	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.813000	0.86123	2.613000	0.88420	0.561000	0.74099	ATG		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			37	39	1	0	7.04047e-22	0.005524	1.2291e-21	37	39				
TSHZ2	128553	broad.mit.edu	37	20	51871229	51871229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:51871229C>A	ENST00000371497.5	+	2	2119	c.1232C>A	c.(1231-1233)tCt>tAt	p.S411Y	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S408Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S408Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	411					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTCACCAGCTCTGCCTCCAAG	0.527																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1231-1233)TCT>TAT		teashirt zinc finger homeobox 2							114.0	109.0	111.0					20																	51871229		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871229C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1232C>A	20.37:g.51871229C>A	ENSP00000360552:p.Ser411Tyr						p.S411Y	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2188	+			411					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1232C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468566	0.84533	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.21932	1.98;1.99	5.68	5.68	0.88126	.	0.055018	0.85682	D	0.000000	T	0.37571	0.1008	L	0.36672	1.1	0.80722	D	1	P	0.49783	0.928	P	0.60886	0.88	T	0.05386	-1.0888	10	0.87932	D	0	-22.0885	19.7846	0.96432	0.0:1.0:0.0:0.0	.	411	Q9NRE2	TSH2_HUMAN	Y	411;408	ENSP00000360552:S411Y;ENSP00000333114:S408Y	ENSP00000333114:S408Y	S	+	2	0	TSHZ2	51304636	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.482000	0.81143	2.673000	0.90976	0.643000	0.83706	TCT		0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		100	123	1	0	5.84261e-33	0.00361	1.09558e-32	100	123				
ZNF217	7764	broad.mit.edu	37	20	52193540	52193540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:52193540C>A	ENST00000371471.2	-	4	2188	c.1763G>T	c.(1762-1764)gGc>gTc	p.G588V	ZNF217_ENST00000302342.3_Missense_Mutation_p.G588V|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAGCGCTGCCCAGAACATT	0.423																																							uc002xwq.3		NA																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1762-1764)GGC>GTC		zinc finger protein 217							121.0	113.0	116.0					20																	52193540		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193540C>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1763G>T	20.37:g.52193540C>A	ENSP00000360526:p.Gly588Val					ZNF217_uc010gij.1_Missense_Mutation_p.G580V	p.G588V	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		3	2034	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		588					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.1763G>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949175	0.73787	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09350	2.99;2.99	5.03	5.03	0.67393	.	0.310580	0.32884	N	0.005522	T	0.25680	0.0625	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.07121	-1.0789	10	0.06365	T	0.9	-23.9769	15.4269	0.75059	0.0:1.0:0.0:0.0	.	588	O75362	ZN217_HUMAN	V	588	ENSP00000360526:G588V;ENSP00000304308:G588V	ENSP00000304308:G588V	G	-	2	0	ZNF217	51626947	0.998000	0.40836	0.993000	0.49108	0.902000	0.53008	2.972000	0.49256	2.471000	0.83476	0.555000	0.69702	GGC		0.423	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		26	90	1	0	4.72057e-08	0.003954	5.96588e-08	26	90				
CTCFL	140690	broad.mit.edu	37	20	56099195	56099195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:56099195G>A	ENST00000608263.1	-	1	728	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	CTCFL_ENST00000432255.2_Missense_Mutation_p.P23S|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.P23S|CTCFL_ENST00000422869.2_Missense_Mutation_p.P23S|CTCFL_ENST00000608425.1_Missense_Mutation_p.P23S|CTCFL_ENST00000608158.1_Missense_Mutation_p.P23S|CTCFL_ENST00000371196.2_Missense_Mutation_p.P23S|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608440.1_Missense_Mutation_p.P23S|CTCFL_ENST00000243914.3_Missense_Mutation_p.P23S|CTCFL_ENST00000423479.3_Missense_Mutation_p.P23S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.P23S|CTCFL_ENST00000481655.2_Missense_Mutation_p.P23S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.P23S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTTTTCCGGCATCAACTCG	0.507																																							uc010gix.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(67-69)CCG>TCG		CCCTC-binding factor-like protein							218.0	246.0	237.0					20																	56099195		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099195G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.67C>T	20.37:g.56099195G>A	ENSP00000476783:p.Pro23Ser					CTCFL_uc010giw.1_Missense_Mutation_p.P23S|CTCFL_uc002xym.2_Missense_Mutation_p.P23S|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.P23S|CTCFL_uc010gjb.1_Missense_Mutation_p.P23S|CTCFL_uc010gjc.1_Missense_Mutation_p.P23S|CTCFL_uc010gjd.1_Missense_Mutation_p.P23S|CTCFL_uc010gje.2_Missense_Mutation_p.P23S|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.P23S|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.P23S|CTCFL_uc010gjk.1_Missense_Mutation_p.P23S|CTCFL_uc010gjl.1_Missense_Mutation_p.P23S	p.P23S	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	729	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		23					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.67C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027373	0.19512	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10763	2.84;2.89;2.89;3.04;2.93;3.21;2.92;3.49;2.93	4.11	2.12	0.27331	.	0.593612	0.14065	N	0.343811	T	0.09818	0.0241	M	0.62723	1.935	0.09310	N	1	B;B;B;P;B;B;B;B	0.34864	0.286;0.158;0.027;0.473;0.027;0.022;0.01;0.01	B;B;B;B;B;B;B;B	0.28553	0.035;0.026;0.006;0.091;0.007;0.015;0.01;0.01	T	0.26883	-1.0090	10	0.59425	D	0.04	-0.652	3.804	0.08770	0.204:0.0:0.6043:0.1917	.	23;23;23;23;23;23;23;23	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	S	23	ENSP00000415579:P23S;ENSP00000243914:P23S;ENSP00000360239:P23S;ENSP00000415329:P23S;ENSP00000392034:P23S;ENSP00000413713:P23S;ENSP00000403369:P23S;ENSP00000409344:P23S;ENSP00000399061:P23S	ENSP00000243914:P23S	P	-	1	0	CTCFL	55532601	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.156000	0.10100	0.370000	0.24538	0.655000	0.94253	CCG		0.507	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		203	241	0	0	0	0.00361	0	203	241				
ZBP1	81030	broad.mit.edu	37	20	56186853	56186853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:56186853G>T	ENST00000371173.3	-	6	981	c.804C>A	c.(802-804)caC>caA	p.H268Q	ZBP1_ENST00000343535.4_Missense_Mutation_p.H268Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.H193Q|ZBP1_ENST00000340462.4_Missense_Mutation_p.H245Q	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	268					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)	p.H268H(1)		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)			TCTCATTGCTGTGTCCCAGCT	0.632																																							uc002xyo.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(802-804)CAC>CAA		Z-DNA binding protein 1 isoform a							39.0	39.0	39.0					20																	56186853		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186853G>T	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.804C>A	20.37:g.56186853G>T	ENSP00000360215:p.His268Gln					ZBP1_uc010gjm.2_Missense_Mutation_p.H267Q|ZBP1_uc002xyp.2_Missense_Mutation_p.H193Q	p.H268Q	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)		6	1085	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		268			RIP homotypic interaction motif (RHIM) 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.804C>A	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178948	0.38511	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.14391	2.89;2.51;2.89;2.87	3.25	-2.36	0.06663	.	0.362471	0.20184	N	0.097452	T	0.21062	0.0507	L	0.52573	1.65	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.966;0.966	T	0.07328	-1.0778	10	0.72032	D	0.01	-12.9218	4.0491	0.09786	0.4736:0.1872:0.3391:0.0	.	268;193;268	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	Q	268;193;245;268;268	ENSP00000360215:H268Q;ENSP00000379167:H193Q;ENSP00000344954:H245Q;ENSP00000340584:H268Q	ENSP00000344954:H245Q	H	-	3	2	ZBP1	55620259	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.496000	0.02291	-0.483000	0.06772	-0.266000	0.10368	CAC		0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		8	11	1	0	3.03607e-14	0.001368	4.59393e-14	8	11				
GNAS	2778	broad.mit.edu	37	20	57429950	57429950	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57429950C>T	ENST00000371100.4	+	1	2182	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.R544W|GNAS_ENST00000371099.2_Missense_Mutation_p.R544W|GNAS_ENST00000306120.3_Silent_p.R480R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTACTCCGCGGCCTACTCG	0.716			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1630-1632)CGG>TGG		GNAS complex locus XLas							5.0	6.0	6.0					20																	57429950		1876	3928	5804	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429950C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1630C>T	20.37:g.57429950C>T	ENSP00000360141:p.Arg544Trp	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.R544W	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1915	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1630C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602293	0.66445	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90385	-2.66;-2.65	4.75	3.78	0.43462	.	11.954600	0.00834	N	0.001695	D	0.90417	0.7000	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.80493	-0.1358	10	0.72032	D	0.01	.	7.9508	0.30014	0.1698:0.6233:0.2068:0.0	.	544	Q5JWF2	GNAS1_HUMAN	W	544	ENSP00000360141:R544W;ENSP00000360143:R544W	ENSP00000360140:R544W	R	+	1	2	GNAS	56863345	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.441000	0.35035	1.069000	0.40788	0.462000	0.41574	CGG		0.716	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		6	6	0	0	0	0.001168	0	6	6				
ZNF831	128611	broad.mit.edu	37	20	57767204	57767204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57767204G>A	ENST00000371030.2	+	1	1130	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	377							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGGGGGAgggcggcccgggc	0.761																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1129-1131)GGC>GAC		zinc finger protein 831							5.0	7.0	6.0					20																	57767204		1521	3533	5054	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767204G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1130G>A	20.37:g.57767204G>A	ENSP00000360069:p.Gly377Asp						p.G377D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1130	+	all_lung(29;0.0085)		377					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1130G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990057	0.18966	.	.	ENSG00000124203	ENST00000371030	T	0.11169	2.8	5.16	-4.72	0.03269	.	.	.	.	.	T	0.14056	0.0340	L	0.44542	1.39	0.09310	N	1	P	0.50272	0.933	P	0.49665	0.618	T	0.22243	-1.0222	9	0.25751	T	0.34	.	16.5904	0.84763	0.0:0.6287:0.282:0.0893	.	377	Q5JPB2	ZN831_HUMAN	D	377	ENSP00000360069:G377D	ENSP00000360069:G377D	G	+	2	0	ZNF831	57200599	0.793000	0.28825	0.003000	0.11579	0.002000	0.02628	1.386000	0.34419	-0.329000	0.08527	-0.310000	0.09108	GGC		0.761	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	20	0	0	0	0.000602	0	5	20				
ZNF831	128611	broad.mit.edu	37	20	57768774	57768774	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57768774G>C	ENST00000371030.2	+	1	2700	c.2700G>C	c.(2698-2700)agG>agC	p.R900S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	900							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGGCCAAGGGACAAGGCTA	0.672																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2698-2700)AGG>AGC		zinc finger protein 831							28.0	32.0	31.0					20																	57768774		1989	4158	6147	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768774G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2700G>C	20.37:g.57768774G>C	ENSP00000360069:p.Arg900Ser						p.R900S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2700	+	all_lung(29;0.0085)		900					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2700G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	8.390	0.839493	0.16891	.	.	ENSG00000124203	ENST00000371030	T	0.04119	3.7	4.21	1.0	0.19881	.	0.989721	0.08209	N	0.981073	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	B	0.30193	0.272	B	0.22880	0.042	T	0.48139	-0.9061	10	0.21540	T	0.41	-0.9638	7.2278	0.26026	0.3235:0.0:0.6765:0.0	.	900	Q5JPB2	ZN831_HUMAN	S	900	ENSP00000360069:R900S	ENSP00000360069:R900S	R	+	3	2	ZNF831	57202169	0.001000	0.12720	0.000000	0.03702	0.109000	0.19521	0.667000	0.25112	0.333000	0.23563	0.655000	0.94253	AGG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		20	35	0	0	0	0.010504	0	20	35				
ZNF831	128611	broad.mit.edu	37	20	57769036	57769036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57769036C>G	ENST00000371030.2	+	1	2962	c.2962C>G	c.(2962-2964)Ctt>Gtt	p.L988V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	988							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGACCCCTCTTTCTCCCAG	0.637																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2962-2964)CTT>GTT		zinc finger protein 831							52.0	55.0	54.0					20																	57769036		1966	4149	6115	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769036C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2962C>G	20.37:g.57769036C>G	ENSP00000360069:p.Leu988Val						p.L988V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2962	+	all_lung(29;0.0085)		988					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2962C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392853	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.04970	3.52	4.81	-0.761	0.11038	.	1.620190	0.03370	N	0.198796	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	P	0.40731	0.728	B	0.35114	0.196	T	0.32666	-0.9898	10	0.44086	T	0.13	-0.3065	4.2158	0.10533	0.1556:0.4765:0.0:0.3679	.	988	Q5JPB2	ZN831_HUMAN	V	988	ENSP00000360069:L988V	ENSP00000360069:L988V	L	+	1	0	ZNF831	57202431	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.365000	0.20348	-0.052000	0.13311	-0.136000	0.14681	CTT		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		20	59	0	0	0	0.008871	0	20	59				
FAM217B	63939	broad.mit.edu	37	20	58519167	58519167	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:58519167A>G	ENST00000358293.3	+	5	584	c.169A>G	c.(169-171)Aga>Gga	p.R57G	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.R57G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	57																	CCCGGAAGCAAGACGCAAAAG	0.468																																							uc002yba.2		NA																	0				ovary(2)|breast(1)	3						c.(169-171)AGA>GGA		hypothetical protein LOC63939							53.0	54.0	54.0					20																	58519167		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519167A>G	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.169A>G	20.37:g.58519167A>G	ENSP00000351040:p.Arg57Gly					C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.R57G	p.R57G	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	584	+	all_lung(29;0.00693)		57					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.169A>G	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	9.969	1.224836	0.22457	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.31510	1.49;1.49	5.32	-1.53	0.08611	.	2.109490	0.02317	N	0.072632	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	B	0.19331	0.035	B	0.16722	0.016	T	0.15378	-1.0439	10	0.24483	T	0.36	0.3278	6.7215	0.23332	0.426:0.2244:0.3496:0.0	.	57	Q9NTX9	CT177_HUMAN	G	57	ENSP00000351040:R57G;ENSP00000354056:R57G	ENSP00000351040:R57G	R	+	1	2	C20orf177	57952562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.556000	0.05992	-0.199000	0.10317	-0.316000	0.08728	AGA		0.468	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		27	62	0	0	0	0.007291	0	27	62				
CDH4	1002	broad.mit.edu	37	20	60448826	60448826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:60448826G>T	ENST00000360469.5	+	7	1008	c.920G>T	c.(919-921)aGc>aTc	p.S307I	CDH4_ENST00000543233.1_Missense_Mutation_p.S233I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	307	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGACGACAGCACCACGGCC	0.617																																							uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(919-921)AGC>ATC		cadherin 4, type 1 preproprotein							150.0	116.0	127.0					20																	60448826		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448826G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.920G>T	20.37:g.60448826G>T	ENSP00000353656:p.Ser307Ile					CDH4_uc002ybp.1_Missense_Mutation_p.S233I	p.S307I	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	934	+			307			Extracellular (Potential).|Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.920G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058894	0.36277	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.62788	0.0;0.0	5.01	1.74	0.24563	Cadherin (4);Cadherin-like (1);	0.677027	0.15576	N	0.255196	T	0.55033	0.1895	L	0.58810	1.83	0.36047	D	0.840463	B	0.06786	0.001	B	0.14578	0.011	T	0.52503	-0.8567	9	.	.	.	.	10.8279	0.46645	0.0:0.4028:0.4586:0.1386	.	307	P55283	CADH4_HUMAN	I	307;215;233	ENSP00000353656:S307I;ENSP00000443301:S233I	.	S	+	2	0	CDH4	59882221	0.000000	0.05858	0.278000	0.24718	0.906000	0.53458	0.096000	0.15147	0.099000	0.17552	0.650000	0.86243	AGC		0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		52	82	1	0	5.39261e-20	0.00361	9.21344e-20	52	82				
COL20A1	57642	broad.mit.edu	37	20	61937328	61937328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61937328G>T	ENST00000358894.6	+	5	533	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	COL20A1_ENST00000435874.1_Missense_Mutation_p.D145Y|COL20A1_ENST00000326996.6_Missense_Mutation_p.D145Y|COL20A1_ENST00000422202.1_Missense_Mutation_p.D145Y	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	145					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGGAGCCCAGACCCTGAGCA	0.647																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(433-435)GAC>TAC		collagen, type XX, alpha 1							34.0	38.0	37.0					20																	61937328		1927	4118	6045	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61937328G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.433G>T	20.37:g.61937328G>T	ENSP00000351767:p.Asp145Tyr					COL20A1_uc011aav.1_5'Flank	p.D145Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			5	533	+	all_cancers(38;1.39e-10)		145					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.433G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214947	0.22373	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.87103	-2.2;-2.21;-2.19;-2.19	3.74	2.78	0.32641	.	0.706038	0.13207	N	0.405513	T	0.76033	0.3931	N	0.24115	0.695	0.09310	N	1	B	0.33448	0.412	B	0.28232	0.087	T	0.67003	-0.5780	10	0.72032	D	0.01	.	7.2923	0.26372	0.128:0.0:0.872:0.0	.	145	Q9P218	COKA1_HUMAN	Y	145	ENSP00000351767:D145Y;ENSP00000323077:D145Y;ENSP00000408690:D145Y;ENSP00000414753:D145Y	ENSP00000323077:D145Y	D	+	1	0	COL20A1	61407773	0.003000	0.15002	0.019000	0.16419	0.025000	0.11179	1.337000	0.33862	0.697000	0.31718	0.467000	0.42956	GAC		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		25	30	1	0	3.6726e-16	0.003954	5.81327e-16	25	30				
COL20A1	57642	broad.mit.edu	37	20	61939938	61939938	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61939938G>T	ENST00000358894.6	+	8	920	c.820G>T	c.(820-822)Gct>Tct	p.A274S	COL20A1_ENST00000435874.1_Missense_Mutation_p.A281S|COL20A1_ENST00000326996.6_Missense_Mutation_p.A274S|COL20A1_ENST00000422202.1_Missense_Mutation_p.A281S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	274	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCGGCGGCTGGCCTCCG	0.647																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(820-822)GCT>TCT		collagen, type XX, alpha 1							10.0	14.0	13.0					20																	61939938		1959	4106	6065	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61939938G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.820G>T	20.37:g.61939938G>T	ENSP00000351767:p.Ala274Ser					COL20A1_uc011aav.1_Missense_Mutation_p.A95S	p.A274S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			8	920	+	all_cancers(38;1.39e-10)		274			VWFA.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.820G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	5.209	0.224146	0.09863	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.07	3.08	0.35506	von Willebrand factor, type A (3);	0.067206	0.64402	D	0.000015	T	0.72260	0.3438	L	0.37561	1.115	0.09310	N	1	B;B	0.32604	0.326;0.377	B;B	0.32465	0.098;0.146	T	0.61277	-0.7095	10	0.37606	T	0.19	.	7.5544	0.27817	0.0903:0.0:0.7436:0.1661	.	281;274	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	274;274;281;281	ENSP00000351767:A274S;ENSP00000323077:A274S;ENSP00000408690:A281S;ENSP00000414753:A281S	ENSP00000323077:A274S	A	+	1	0	COL20A1	61410383	0.002000	0.14202	0.006000	0.13384	0.001000	0.01503	1.127000	0.31357	0.785000	0.33685	0.467000	0.42956	GCT		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		5	13	1	0	0.00116845	0.001168	0.00125927	5	13				
COL20A1	57642	broad.mit.edu	37	20	61945437	61945437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61945437G>T	ENST00000358894.6	+	19	2472	c.2372G>T	c.(2371-2373)gGa>gTa	p.G791V	COL20A1_ENST00000435874.1_Missense_Mutation_p.G798V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G791V|COL20A1_ENST00000422202.1_Missense_Mutation_p.G798V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	791	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTGTGCCAGGAGCCAGGAGC	0.637																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(2371-2373)GGA>GTA		collagen, type XX, alpha 1							38.0	46.0	43.0					20																	61945437		2149	4234	6383	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61945437G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2372G>T	20.37:g.61945437G>T	ENSP00000351767:p.Gly791Val					COL20A1_uc011aav.1_Missense_Mutation_p.G612V	p.G791V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			19	2472	+	all_cancers(38;1.39e-10)		791			Fibronectin type-III 6.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2372G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	g	11.35	1.611922	0.28712	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	3.57	1.36	0.22044	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.214576	0.39083	U	0.001472	T	0.68915	0.3053	M	0.68317	2.08	0.45403	D	0.99838	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.68488	-0.5395	10	0.56958	D	0.05	.	9.3154	0.37930	0.0:0.4327:0.5673:0.0	.	798;791	Q9P218-2;Q9P218	.;COKA1_HUMAN	V	791;791;798;798	ENSP00000351767:G791V;ENSP00000323077:G791V;ENSP00000408690:G798V;ENSP00000414753:G798V	ENSP00000323077:G791V	G	+	2	0	COL20A1	61415882	0.583000	0.26757	0.954000	0.39281	0.115000	0.19883	1.966000	0.40481	0.655000	0.30866	-0.672000	0.03802	GGA		0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		14	16	1	0	4.14922e-12	0.004007	5.89475e-12	14	16				
COL20A1	57642	broad.mit.edu	37	20	61945462	61945462	+	Silent	SNP	C	C	A	rs374730380		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61945462C>A	ENST00000358894.6	+	19	2497	c.2397C>A	c.(2395-2397)ccC>ccA	p.P799P	COL20A1_ENST00000435874.1_Silent_p.P806P|COL20A1_ENST00000326996.6_Silent_p.P799P|COL20A1_ENST00000422202.1_Silent_p.P806P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	799	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGACACTGCCCGACCTGCAGG	0.637																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(2395-2397)CCC>CCA		collagen, type XX, alpha 1							39.0	47.0	44.0					20																	61945462		2149	4231	6380	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61945462C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2397C>A	20.37:g.61945462C>A						COL20A1_uc011aav.1_Silent_p.P620P	p.P799P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			19	2497	+	all_cancers(38;1.39e-10)		799			Fibronectin type-III 6.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.2397C>A	CCDS46628.1																																																																																				0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		6	16	1	0	0.00116845	0.001168	0.00125927	6	16				
GRIK1	2897	broad.mit.edu	37	21	30959887	30959887	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:30959887G>A	ENST00000399907.1	-	12	2003	c.1592C>T	c.(1591-1593)cCt>cTt	p.P531L	GRIK1_ENST00000535441.1_Missense_Mutation_p.P533L|GRIK1_ENST00000399913.1_Missense_Mutation_p.P531L|GRIK1_ENST00000399909.1_Missense_Mutation_p.P516L|GRIK1_ENST00000389125.3_Missense_Mutation_p.P516L|GRIK1_ENST00000399914.1_Missense_Mutation_p.P516L|GRIK1_ENST00000309434.7_Missense_Mutation_p.P533L|GRIK1_ENST00000389124.2_Missense_Mutation_p.P531L|GRIK1_ENST00000327783.4_Missense_Mutation_p.P531L	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	531	Glutamate binding. {ECO:0000250}.				adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GATGGTAAGAGGAGCCACTGC	0.478																																							uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1591-1593)CCT>CTT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						64.0	66.0	65.0					21																	30959887		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30959887G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1592C>T	21.37:g.30959887G>A	ENSP00000382791:p.Pro531Leu					GRIK1_uc002ynn.2_Missense_Mutation_p.P516L|GRIK1_uc011acs.1_Missense_Mutation_p.P531L|GRIK1_uc011act.1_Missense_Mutation_p.P392L|GRIK1_uc010glq.1_Missense_Mutation_p.P374L	p.P531L	NM_000830	NP_000821	P39086	GRIK1_HUMAN			12	2056	-			531			Glutamate binding (By similarity).|Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1592C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823041	0.90873	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	4.7	4.7	0.59300	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.917;1.0;1.0	D	0.99010	1.0814	10	0.87932	D	0	.	17.7849	0.88534	0.0:0.0:1.0:0.0	.	516;531;516;531;516	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	L	531;516;531;516;533;392;531;531;516;533	ENSP00000327687:P531L;ENSP00000373777:P516L;ENSP00000382797:P531L;ENSP00000382798:P516L;ENSP00000446326:P533L;ENSP00000373776:P531L;ENSP00000382791:P531L;ENSP00000382793:P516L;ENSP00000311646:P533L	ENSP00000311646:P533L	P	-	2	0	GRIK1	29881758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.593000	0.98250	2.610000	0.88304	0.655000	0.94253	CCT		0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			13	13	0	0	0	0.00245	0	13	13				
KRTAP13-1	140258	broad.mit.edu	37	21	31768821	31768821	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:31768821C>A	ENST00000355459.2	+	1	430	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	139						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTCCCTTCCCTGGGCTATG	0.572																																							uc002yoa.2		NA																	0				ovary(1)	1						c.(415-417)TCC>TCA		keratin associated protein 13-1							62.0	59.0	60.0					21																	31768821		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768821C>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.417C>A	21.37:g.31768821C>A							p.S139S	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	430	+			139					Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.417C>A	CCDS13590.2																																																																																				0.572	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			6	38	1	0	5.9392e-07	0.001168	7.17882e-07	6	38				
KRTAP21-2	337978	broad.mit.edu	37	21	32119357	32119357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:32119357G>T	ENST00000333892.2	-	1	194	c.164C>A	c.(163-165)tCt>tAt	p.S55Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	55						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						tccacagccagagccgtatcc	0.517																																							uc011adh.1		NA																	0					0						c.(163-165)TCT>TAT		keratin associated protein 21-2							122.0	102.0	109.0					21																	32119357		2203	4300	6503	SO:0001583	missense	337978					intermediate filament		g.chr21:32119357G>T	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.164C>A	21.37:g.32119357G>T	ENSP00000334287:p.Ser55Tyr						p.S55Y	NM_181617	NP_853648	Q3LI59	KR212_HUMAN			1	164	-			55						Missense_Mutation	SNP	ENST00000333892.2	37	c.164C>A	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	A	3.260	-0.151473	0.06585	.	.	ENSG00000187026	ENST00000333892	.	.	.	2.81	-4.42	0.03579	.	0.442570	0.16428	N	0.214837	T	0.22126	0.0533	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12451	-1.0547	8	0.87932	D	0	-2.2713	1.3739	0.02216	0.1237:0.3058:0.2195:0.351	.	55	Q3LI59	KR212_HUMAN	Y	55	.	ENSP00000334287:S55Y	S	-	2	0	KRTAP21-2	31041228	0.000000	0.05858	0.004000	0.12327	0.034000	0.12701	-1.858000	0.01659	-0.711000	0.04995	-1.214000	0.01621	TCT		0.517	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			15	37	1	0	2.35188e-11	0.006122	3.27673e-11	15	37				
TIAM1	7074	broad.mit.edu	37	21	32492884	32492884	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:32492884C>T	ENST00000286827.3	-	29	5049	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	TIAM1_ENST00000541036.1_Silent_p.E1466E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1526					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGAAGCCGCTCCTGCAGGT	0.567																																							uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4576-4578)GAG>GAA		T-cell lymphoma invasion and metastasis 1							97.0	82.0	87.0					21																	32492884		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492884C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4578G>A	21.37:g.32492884C>T						TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.E1466E	p.E1526E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			29	5050	-			1526					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.4578G>A	CCDS13609.1																																																																																				0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		16	32	0	0	0	0.00499	0	16	32				
MRPS6	64968	broad.mit.edu	37	21	35514757	35514757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:35514757G>T	ENST00000399312.2	+	3	413	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	79					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGAAAGCATGGTGGAGCACTT	0.408																																							uc002ytp.2		NA																	0				skin(1)	1						c.(235-237)GTG>TTG		mitochondrial ribosomal protein S6							114.0	108.0	110.0					21																	35514757		2203	4300	6503	SO:0001583	missense	64968				translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr21:35514757G>T	AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.235G>T	21.37:g.35514757G>T	ENSP00000382250:p.Val79Leu						p.V79L	NM_032476	NP_115865	P82932	RT06_HUMAN			3	413	+			79					B2R573|Q96Q64|Q9BSK8|Q9BW89	Missense_Mutation	SNP	ENST00000399312.2	37	c.235G>T	CCDS33548.1	.	.	.	.	.	.	.	.	.	.	G	8.043	0.764390	0.15914	.	.	ENSG00000243927	ENST00000399312	.	.	.	5.65	-1.78	0.07957	Translation elongation factor EF1B/ribosomal protein S6 (1);	0.261548	0.30620	N	0.009230	T	0.06371	0.0164	N	0.00456	-1.48	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34453	-0.9828	9	0.27785	T	0.31	-6.6716	5.9343	0.19156	0.2573:0.5584:0.0741:0.1102	.	79	P82932	RT06_HUMAN	L	79	.	ENSP00000382250:V79L	V	+	1	0	MRPS6	34436627	0.002000	0.14202	0.015000	0.15790	0.669000	0.39330	-0.512000	0.06313	-0.490000	0.06707	-0.423000	0.05987	GTG		0.408	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1	NM_032476		25	40	1	0	6.07407e-21	0.007291	1.04896e-20	25	40				
SIM2	6493	broad.mit.edu	37	21	38092173	38092173	+	Missense_Mutation	SNP	G	G	A	rs149282278		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:38092173G>A	ENST00000290399.6	+	4	1013	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SIM2_ENST00000430056.3_Missense_Mutation_p.D134N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	134	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTCTGACCACGATGAGATGAC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17103	0.0		0.001	False		,,,				2504	0.0						uc002yvr.2		NA																	0				central_nervous_system(1)	1						c.(400-402)GAT>AAT		single-minded homolog 2 long isoform		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	90.0	88.0	89.0		400,400	5.5	1.0	21	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SIM2	NM_005069.3,NM_009586.2	23,23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	134/668,134/571	38092173	2,13004	2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38092173G>A		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.400G>A	21.37:g.38092173G>A	ENSP00000290399:p.Asp134Asn					SIM2_uc002yvq.2_Missense_Mutation_p.D134N	p.D134N	NM_005069	NP_005060	Q14190	SIM2_HUMAN			4	456	+			134			PAS 1.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.400G>A	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.573401|5.573401	0.96553|0.96553	0.0|0.0	2.33E-4|2.33E-4	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.18016|.	2.24;2.24|.	5.49|5.49	5.49|5.49	0.81192|0.81192	PAS (2);PAS fold (1);|.	0.144531|.	0.64402|.	D|.	0.000009|.	T|T	0.73048|0.73048	0.3537|0.3537	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.978|.	P;P|.	0.58820|.	0.846;0.761|.	T|T	0.70022|0.70022	-0.4986|-0.4986	10|5	0.54805|.	T|.	0.06|.	.|.	19.3811|19.3811	0.94536|0.94536	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	134;134|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	N|Q	134|71	ENSP00000290399:D134N;ENSP00000404176:D134N|.	ENSP00000290399:D134N|.	D|R	+|+	1|2	0|0	SIM2|SIM2	37014043|37014043	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	9.217000|9.217000	0.95160|0.95160	2.591000|2.591000	0.87537|0.87537	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.532	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		18	70	0	0	0	0.010504	0	18	70				
DSCAM	1826	broad.mit.edu	37	21	41684166	41684166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:41684166C>A	ENST00000400454.1	-	9	2381	c.1904G>T	c.(1903-1905)cGg>cTg	p.R635L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	635	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGGATTGGCCGGCCATCCTT	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1903-1905)CGG>CTG		Down syndrome cell adhesion molecule isoform							70.0	70.0	70.0					21																	41684166		1914	4144	6058	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684166C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1904G>T	21.37:g.41684166C>A	ENSP00000383303:p.Arg635Leu					DSCAM_uc002yyr.1_RNA	p.R635L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2356	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	635			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1904G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647110	0.87958	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67345	-0.26;-0.26	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058459	0.64402	D	0.000004	T	0.67961	0.2949	L	0.42529	1.33	0.48040	D	0.999574	P	0.52842	0.956	P	0.48425	0.577	T	0.66180	-0.5988	10	0.35671	T	0.21	.	19.5017	0.95097	0.0:1.0:0.0:0.0	.	635	O60469	DSCAM_HUMAN	L	635;387	ENSP00000383303:R635L;ENSP00000385342:R387L	ENSP00000383303:R635L	R	-	2	0	DSCAM	40606036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.615000	0.46368	2.596000	0.87737	0.563000	0.77884	CGG		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		7	35	1	0	5.18039e-06	0.00308	6.06341e-06	7	35				
ZBTB21	49854	broad.mit.edu	37	21	43411970	43411970	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43411970C>T	ENST00000310826.5	-	3	2418	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Silent_p.R745R|ZBTB21_ENST00000398505.3_Silent_p.R544R|ZBTB21_ENST00000398499.1_Silent_p.R745R	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	745					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CGGCCGCGTTCCGGCACAGCC	0.547																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2233-2235)CGG>CGA		zinc finger protein 295 isoform L							141.0	163.0	156.0					21																	43411970		2203	4300	6503	SO:0001819	synonymous_variant	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43411970C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2235G>A	21.37:g.43411970C>T						ZNF295_uc002yzz.3_Silent_p.R544R|ZNF295_uc002yzy.3_Silent_p.R745R|ZNF295_uc002zaa.3_Silent_p.R745R	p.R745R	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2449	-			745					Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2235G>A	CCDS13678.1																																																																																				0.547	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		57	140	0	0	0	0.00361	0	57	140				
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43412359C>T	ENST00000310826.5	-	3	2029	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E616K|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E616K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	616					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGGAATTTTTCATCCAAAACA	0.453																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1846-1848)GAA>AAA		zinc finger protein 295 isoform L							100.0	106.0	104.0					21																	43412359		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412359C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1846G>A	21.37:g.43412359C>T	ENSP00000308759:p.Glu616Lys					ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.E616K|ZNF295_uc002zaa.3_Missense_Mutation_p.E616K	p.E616K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2060	-			616					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.1846G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990568	0.74589	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.07114	3.22;3.22;3.22	5.61	5.61	0.85477	.	0.062980	0.64402	D	0.000008	T	0.11196	0.0273	N	0.14661	0.345	0.58432	D	0.999999	D	0.58268	0.982	P	0.53760	0.734	T	0.40776	-0.9545	10	0.19147	T	0.46	-21.3653	19.639	0.95749	0.0:1.0:0.0:0.0	.	616	Q9ULJ3	ZN295_HUMAN	K	616	ENSP00000308759:E616K;ENSP00000381512:E616K;ENSP00000381523:E616K	ENSP00000308759:E616K	E	-	1	0	ZNF295	42285428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.641000	0.89580	0.591000	0.81541	GAA		0.453	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		20	56	0	0	0	0.010504	0	20	56				
ZBTB21	49854	broad.mit.edu	37	21	43413863	43413863	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43413863C>G	ENST00000310826.5	-	3	525	c.342G>C	c.(340-342)ctG>ctC	p.L114L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Silent_p.L114L|ZBTB21_ENST00000398505.3_Silent_p.L114L|ZBTB21_ENST00000398499.1_Silent_p.L114L	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	114					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CGATGTTAGTCAGAAAGGAAA	0.368																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(340-342)CTG>CTC		zinc finger protein 295 isoform L							54.0	53.0	53.0					21																	43413863		2203	4300	6503	SO:0001819	synonymous_variant	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43413863C>G	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.342G>C	21.37:g.43413863C>G						ZNF295_uc002yzz.3_Silent_p.L114L|ZNF295_uc002yzy.3_Silent_p.L114L|ZNF295_uc002zaa.3_Silent_p.L114L|ZNF295_uc010gov.1_Silent_p.L114L|ZNF295_uc002zac.2_Silent_p.L114L	p.L114L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	556	-			114					Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.342G>C	CCDS13678.1																																																																																				0.368	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		11	27	0	0	0	0.001855	0	11	27				
TFF2	7032	broad.mit.edu	37	21	43767673	43767673	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43767673C>T	ENST00000291526.4	-	3	468	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	100	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						GAGGCGCATTCCTCGGGGCTG	0.582																																							uc002zaw.2		NA																	0				pancreas(1)	1						c.(298-300)GAA>AAA		trefoil factor 2 precursor							85.0	72.0	76.0					21																	43767673		2203	4300	6503	SO:0001583	missense	7032				digestion	extracellular region		g.chr21:43767673C>T		CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.298G>A	21.37:g.43767673C>T	ENSP00000291526:p.Glu100Lys						p.E100K	NM_005423	NP_005414	Q03403	TFF2_HUMAN			3	440	-			100			P-type 2.		Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	c.298G>A	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837174	0.50951	.	.	ENSG00000160181	ENST00000291526	T	0.57595	0.39	4.38	2.56	0.30785	P-type trefoil, conserved site (1);P-type trefoil (5);	0.892259	0.09557	N	0.786147	T	0.59742	0.2216	M	0.87971	2.92	0.09310	N	1	P	0.42078	0.77	B	0.43508	0.422	T	0.55341	-0.8156	9	.	.	.	0.7278	6.167	0.20396	0.0:0.7745:0.0:0.2255	.	100	Q03403	TFF2_HUMAN	K	100	ENSP00000291526:E100K	.	E	-	1	0	TFF2	42640742	0.000000	0.05858	0.016000	0.15963	0.007000	0.05969	-0.179000	0.09768	1.199000	0.43173	0.655000	0.94253	GAA		0.582	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1	NM_005423		15	22	0	0	0	0.003163	0	15	22				
COL6A2	1292	broad.mit.edu	37	21	47532214	47532214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47532214G>A	ENST00000300527.4	+	3	541	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	COL6A2_ENST00000357838.4_Missense_Mutation_p.R146Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R146Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	146	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCAGATCCGGCAGGACCGC	0.687																																							uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(436-438)CGG>CAG		alpha 2 type VI collagen isoform 2C2 precursor							24.0	25.0	25.0					21																	47532214		2202	4299	6501	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532214G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.437G>A	21.37:g.47532214G>A	ENSP00000300527:p.Arg146Gln					COL6A2_uc002zhy.1_Missense_Mutation_p.R146Q|COL6A2_uc002zhz.1_Missense_Mutation_p.R146Q|COL6A2_uc002zib.1_Intron	p.R146Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	519	+	Breast(49;0.245)		146			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.437G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	4.925	0.171786	0.09391	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.34	2.37	0.29283	von Willebrand factor, type A (3);	1.382570	0.04367	N	0.358430	T	0.46034	0.1372	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.27380	0.142;0.177;0.055	B;B;B	0.19946	0.027;0.014;0.018	T	0.50725	-0.8794	10	0.37606	T	0.19	-18.4518	0.6596	0.00840	0.1903:0.1673:0.3243:0.3181	.	146;146;146	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	146	ENSP00000300527:R146Q;ENSP00000350497:R146Q;ENSP00000312529:R146Q;ENSP00000390418:R146Q;ENSP00000387115:R146Q;ENSP00000380870:R146Q	ENSP00000300527:R146Q	R	+	2	0	COL6A2	46356642	0.000000	0.05858	0.248000	0.24265	0.189000	0.23516	0.087000	0.14958	2.142000	0.66516	0.467000	0.42956	CGG		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			6	17	0	0	0	0.001168	0	6	17				
LSS	4047	broad.mit.edu	37	21	47636393	47636393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47636393G>T	ENST00000397728.3	-	7	771	c.693C>A	c.(691-693)tgC>tgA	p.C231*	LSS_ENST00000356396.4_Nonsense_Mutation_p.C231*|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Nonsense_Mutation_p.C151*|LSS_ENST00000522411.1_Nonsense_Mutation_p.C220*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	231					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCGGCAGTGGCACCAGAGTG	0.662																																					Pancreas(114;955 2313 34923 50507)	Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	0					0						c.(691-693)TGC>TGA		lanosterol synthase isoform 1							34.0	34.0	34.0					21																	47636393		2203	4300	6503	SO:0001587	stop_gained	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47636393G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.693C>A	21.37:g.47636393G>T	ENSP00000380837:p.Cys231*					LSS_uc011afv.1_Nonsense_Mutation_p.C220*|LSS_uc002zil.2_Nonsense_Mutation_p.C231*|LSS_uc002zik.2_Nonsense_Mutation_p.C151*	p.C231*	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			7	772	-	Breast(49;0.214)		231					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Nonsense_Mutation	SNP	ENST00000397728.3	37	c.693C>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	39	7.345819	0.98224	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	.	.	.	5.43	3.59	0.41128	.	0.099399	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0645	0.30652	0.2506:0.0:0.7494:0.0	.	.	.	.	X	231;151;231;220;232	.	ENSP00000348762:C231X	C	-	3	2	LSS	46460821	0.994000	0.37717	1.000000	0.80357	0.974000	0.67602	0.289000	0.18957	1.276000	0.44395	0.655000	0.94253	TGC		0.662	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			3	16	1	0	0.004672	0.004672	0.00492473	3	16				
PCNT	5116	broad.mit.edu	37	21	47783821	47783821	+	Missense_Mutation	SNP	G	G	T	rs377283848|rs35772268		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47783821G>T	ENST00000359568.5	+	14	2688	c.2581G>T	c.(2581-2583)Gcc>Tcc	p.A861S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	861					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGACTGCGCCCTGCAGCT	0.657																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2581-2583)GCC>TCC		pericentrin							45.0	52.0	50.0					21																	47783821		2193	4273	6466	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783821G>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2581G>T	21.37:g.47783821G>T	ENSP00000352572:p.Ala861Ser					PCNT_uc002zjj.2_Missense_Mutation_p.A743S	p.A861S	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2688	+	Breast(49;0.112)		861					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2581G>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581636	0.46006	.	.	ENSG00000160299	ENST00000359568	T	0.27890	1.64	4.48	3.57	0.40892	.	0.000000	0.33813	N	0.004535	T	0.34366	0.0895	M	0.68952	2.095	0.28440	N	0.916845	P;D	0.53885	0.896;0.963	B;P	0.45639	0.412;0.488	T	0.31364	-0.9946	10	0.59425	D	0.04	.	9.3495	0.38129	0.0:0.1578:0.6788:0.1633	.	743;861	O95613-2;O95613	.;PCNT_HUMAN	S	861	ENSP00000352572:A861S	ENSP00000352572:A861S	A	+	1	0	PCNT	46608249	0.770000	0.28543	0.812000	0.32479	0.224000	0.24922	1.518000	0.35877	1.155000	0.42497	0.655000	0.94253	GCC		0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		26	52	1	0	7.4402e-23	0.003954	1.31641e-22	26	52				
DIP2A	23181	broad.mit.edu	37	21	47918578	47918578	+	Missense_Mutation	SNP	G	G	A	rs199555654	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47918578G>A	ENST00000417564.2	+	5	508	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	DIP2A_ENST00000457905.3_Missense_Mutation_p.V163I|DIP2A_ENST00000318711.7_Missense_Mutation_p.V163I|DIP2A_ENST00000400274.1_Missense_Mutation_p.V163I|DIP2A_ENST00000435722.3_Missense_Mutation_p.V163I|DIP2A_ENST00000466639.1_Missense_Mutation_p.V163I|DIP2A_ENST00000427143.2_Missense_Mutation_p.V99I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	163					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCATTCCAGCGTCGAGCCCTG	0.617													G|||	12	0.00239617	0.0	0.0	5008	,	,		16708	0.0		0.0	False		,,,				2504	0.0123						uc002zjo.2		NA																	0				ovary(2)	2						c.(487-489)GTC>ATC		disco-interacting protein 2A isoform a		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4134		0,0,2067	86.0	103.0	97.0		295,487,487,487,487,487,487	-0.2	0.7	21		97	5,8391		0,5,4193	yes	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	29,29,29,29,29,29,29	0,5,6260	AA,AG,GG		0.0596,0.0,0.0399	benign,benign,benign,benign,benign,benign,benign	99/1111,163/799,163/1568,163/1572,163/890,163/842,163/813	47918578	5,12525	2067	4198	6265	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918578G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.487G>A	21.37:g.47918578G>A	ENSP00000392066:p.Val163Ile					DIP2A_uc011afy.1_Missense_Mutation_p.V99I|DIP2A_uc011afz.1_Missense_Mutation_p.V163I|DIP2A_uc002zjl.2_Missense_Mutation_p.V163I|DIP2A_uc002zjm.2_Missense_Mutation_p.V163I|DIP2A_uc010gql.2_Missense_Mutation_p.V163I|DIP2A_uc002zjn.2_Missense_Mutation_p.V163I	p.V163I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	670	+	Breast(49;0.0933)		163					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.487G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353991	0.41700	0.0	5.96E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.22743	1.95;1.94;1.95;1.94;1.94;1.95;1.95	5.54	-0.171	0.13331	.	0.553623	0.17998	N	0.154993	T	0.11665	0.0284	N	0.25890	0.77	0.37483	D	0.916083	B;B;B;B;B;B	0.12013	0.0;0.001;0.003;0.0;0.002;0.005	B;B;B;B;B;B	0.15052	0.001;0.001;0.004;0.001;0.008;0.012	T	0.16660	-1.0395	10	0.30854	T	0.27	-7.6242	5.7952	0.18383	0.3391:0.1261:0.5348:0.0	.	163;99;163;163;163;163	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	I	163;99;163;163;163;163;163;163	ENSP00000383133:V163I;ENSP00000400528:V99I;ENSP00000323633:V163I;ENSP00000393434:V163I;ENSP00000430249:V163I;ENSP00000415089:V163I;ENSP00000392066:V163I	ENSP00000323633:V163I	V	+	1	0	DIP2A	46743006	0.967000	0.33354	0.717000	0.30585	0.998000	0.95712	1.606000	0.36826	-0.347000	0.08299	0.650000	0.86243	GTC		0.617	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		22	81	0	0	0	0.00278	0	22	81				
POTEH	23784	broad.mit.edu	37	22	16287925	16287925	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:16287925G>T	ENST00000343518.6	-	0	12					NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTAGCCAGCAGATCGCGTCTA	0.532																																							uc010gqp.2		NA																	0				skin(1)	1						c.(-41--37)ATCTG>ATATG		ANKRD26-like family C, member 3							71.0	78.0	75.0					22																	16287925		1992	3824	5816			23784							g.chr22:16287925G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.-40C>A	22.37:g.16287925G>T						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site		NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	13	-								A2CEK4|A6NCI1|A9Z1W0	Translation_Start_Site	SNP	ENST00000343518.6	37	c.-39C>A	CCDS46658.1																																																																																				0.532	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		17	51	1	0	2.48551e-13	0.00499	3.65724e-13	17	51				
GAB4	128954	broad.mit.edu	37	22	17447120	17447120	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:17447120C>A	ENST00000400588.1	-	6	1265	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	386										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GACATGAGCCCACAGGGATGC	0.597																																							uc002zlw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1156-1158)GTG>GTT		GRB2-associated binding protein family, member							67.0	74.0	72.0					22																	17447120		2040	4212	6252	SO:0001819	synonymous_variant	128954							g.chr22:17447120C>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1158G>T	22.37:g.17447120C>A						GAB4_uc010gqs.1_3'UTR	p.V386V	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			6	1266	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	386						Silent	SNP	ENST00000400588.1	37	c.1158G>T	CCDS42976.1																																																																																				0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		11	44	1	0	5.50884e-06	0.001368	6.41659e-06	11	44				
IL17RA	23765	broad.mit.edu	37	22	17578800	17578800	+	Missense_Mutation	SNP	G	G	A	rs147495146	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:17578800G>A	ENST00000319363.6	+	3	410	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	93					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGTTCCCCGTGGCTCACAT	0.612																																							uc002zly.2		NA																	0				skin(2)	2						c.(277-279)GTG>ATG		interleukin 17A receptor precursor		G	MET/VAL	9,4397	14.3+/-33.2	0,9,2194	113.0	88.0	96.0		277	4.0	0.7	22	dbSNP_134	96	0,8600		0,0,4300	yes	missense	IL17RA	NM_014339.5	21	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	93/867	17578800	9,12997	2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17578800G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.277G>A	22.37:g.17578800G>A	ENSP00000320936:p.Val93Met					IL17RA_uc010gqt.2_Missense_Mutation_p.V93M	p.V93M	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	3	410	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	93			Extracellular (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.277G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227561	0.39399	0.002043	0.0	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00557	6.62	5.06	4.04	0.47022	.	0.086295	0.44902	D	0.000402	T	0.01523	0.0049	M	0.68952	2.095	0.34455	D	0.701113	D;D	0.89917	1.0;1.0	P;D	0.63877	0.876;0.919	T	0.55667	-0.8105	10	0.62326	D	0.03	-28.1532	10.9859	0.47523	0.0887:0.0:0.9113:0.0	.	93;93	D3YTB4;Q96F46	.;I17RA_HUMAN	M	93	ENSP00000320936:V93M	ENSP00000320936:V93M	V	+	1	0	IL17RA	15958800	0.834000	0.29399	0.694000	0.30210	0.011000	0.07611	1.313000	0.33585	1.274000	0.44362	0.655000	0.94253	GTG		0.612	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		28	31	0	0	0	0.008361	0	28	31				
DGCR8	54487	broad.mit.edu	37	22	20093787	20093787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:20093787G>T	ENST00000351989.3	+	10	2305	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	DGCR8_ENST00000407755.1_Nonsense_Mutation_p.E593*|DGCR8_ENST00000383024.2_Nonsense_Mutation_p.E593*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	626	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GATCCTCCACGAGTGCCTTAA	0.547																																							uc002zri.2		NA																	0					0						c.(1876-1878)GAG>TAG		DiGeorge syndrome critical region gene 8							52.0	52.0	52.0					22																	20093787		2203	4300	6503	SO:0001587	stop_gained	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20093787G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1876G>T	22.37:g.20093787G>T	ENSP00000263209:p.Glu626*					DGCR8_uc010grz.2_Nonsense_Mutation_p.E593*|DGCR8_uc002zrj.2_Nonsense_Mutation_p.E269*	p.E626*	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			10	2226	+	Colorectal(54;0.0993)		626			DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	c.1876G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	44	10.677944	0.99448	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	4.88	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-10.7357	12.3856	0.55330	0.0833:0.0:0.9167:0.0	.	.	.	.	X	626;593;593	.	ENSP00000263209:E626X	E	+	1	0	DGCR8	18473787	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.899000	0.92544	1.278000	0.44430	0.467000	0.42956	GAG		0.547	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			12	42	1	0	2.80697e-09	0.000978	3.68639e-09	12	42				
MYO18B	84700	broad.mit.edu	37	22	26298650	26298650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:26298650C>T	ENST00000407587.2	+	30	5066	c.4897C>T	c.(4897-4899)Cag>Tag	p.Q1633*	CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q1632*|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q1632*|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1632	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGTGACCCAGGAGAACAC	0.577																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4894-4896)CAG>TAG		myosin XVIIIB							44.0	48.0	47.0					22																	26298650		1983	4169	6152	SO:0001587	stop_gained	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26298650C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4897C>T	22.37:g.26298650C>T	ENSP00000386096:p.Gln1633*					MYO18B_uc003aca.1_Nonsense_Mutation_p.Q1513*|MYO18B_uc010guy.1_Nonsense_Mutation_p.Q1514*|MYO18B_uc010guz.1_Nonsense_Mutation_p.Q1512*|MYO18B_uc011aka.1_Nonsense_Mutation_p.Q786*|MYO18B_uc011akb.1_Nonsense_Mutation_p.Q1145*	p.Q1632*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			30	5144	+			1632			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	37	c.4894C>T		.	.	.	.	.	.	.	.	.	.	C	47	12.974535	0.99710	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	5.3	5.3	0.74995	.	0.151968	0.44902	D	0.000405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.4582	0.84029	0.0:1.0:0.0:0.0	.	.	.	.	X	1632;1632;1633	.	ENSP00000334563:Q1632X	Q	+	1	0	MYO18B	24628650	0.995000	0.38212	0.936000	0.37596	0.996000	0.88848	3.596000	0.54024	2.464000	0.83262	0.655000	0.94253	CAG		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	2	0	0	0	0.00308	0	8	2				
EMID1	129080	broad.mit.edu	37	22	29628272	29628272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:29628272G>T	ENST00000404820.3	+	8	831	c.704G>T	c.(703-705)gGc>gTc	p.G235V	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.G235V|EMID1_ENST00000334018.6_Missense_Mutation_p.G235V			Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGAGCCCTGGCCGGGCTGGA	0.697																																							uc003aen.2		NA																	0					0						c.(697-699)GGC>GTC		EMI domain containing 1							22.0	28.0	26.0					22																	29628272		2162	4217	6379	SO:0001583	missense	129080					collagen		g.chr22:29628272G>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.704G>T	22.37:g.29628272G>T	ENSP00000384452:p.Gly235Val					EMID1_uc003aem.2_Missense_Mutation_p.G235V|EMID1_uc003aeo.2_Missense_Mutation_p.G235V|EMID1_uc003aep.2_Missense_Mutation_p.G235V	p.G233V	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			8	773	+			233			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.698G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499272|3.499272	0.64298|0.64298	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000433143|ENST00000334018;ENST00000404755;ENST00000404820	.|D;D;D	.|0.99353	.|-5.77;-5.77;-5.77	4.85|4.85	3.8|3.8	0.43715|0.43715	.|.	.|0.692121	.|0.12613	.|N	.|0.453668	D|D	0.99588|0.99588	0.9851|0.9851	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.98066|0.98066	1.0396|1.0396	5|10	.|0.87932	.|D	.|0	-11.5436|-11.5436	10.2805|10.2805	0.43537|0.43537	0.0:0.0:0.8022:0.1978|0.0:0.0:0.8022:0.1978	.|.	.|235;235;233;235	.|B0QYK4;B0QYK5;Q96A84;Q96A84-3	.|.;.;EMID1_HUMAN;.	S|V	98|235	.|ENSP00000335481:G235V;ENSP00000385414:G235V;ENSP00000384452:G235V	.|ENSP00000335481:G235V	A|G	+|+	1|2	0|0	EMID1|EMID1	27958272|27958272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	4.454000|4.454000	0.60068|0.60068	0.998000|0.998000	0.38996|0.38996	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.697	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		20	47	1	0	7.87624e-14	0.00278	1.18185e-13	20	47				
NEFH	4744	broad.mit.edu	37	22	29881762	29881762	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:29881762G>C	ENST00000310624.6	+	3	1167	c.1134G>C	c.(1132-1134)atG>atC	p.M378I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	378	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTGGGAGATGGCCGCCCAGC	0.572																																							uc003afo.2		NA																	0					0						c.(1132-1134)ATG>ATC		neurofilament, heavy polypeptide 200kDa							79.0	68.0	72.0					22																	29881762		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29881762G>C		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1134G>C	22.37:g.29881762G>C	ENSP00000311997:p.Met378Ile						p.M378I	NM_021076	NP_066554	P12036	NFH_HUMAN			3	1205	+			378			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1134G>C	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364395	0.82463	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.89875	-2.58	5.67	5.67	0.87782	Filament (1);	0.110767	0.41605	D	0.000848	D	0.93226	0.7842	M	0.72894	2.215	0.58432	D	0.999999	D	0.56968	0.978	P	0.57620	0.824	D	0.93515	0.6856	10	0.87932	D	0	.	19.8245	0.96612	0.0:0.0:1.0:0.0	.	378	P12036	NFH_HUMAN	I	378	ENSP00000311997:M378I	ENSP00000311997:M378I	M	+	3	0	NEFH	28211762	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.863000	0.99569	2.692000	0.91855	0.650000	0.86243	ATG		0.572	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		12	18	0	0	0	0.000978	0	12	18				
SF3A1	10291	broad.mit.edu	37	22	30738840	30738840	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:30738840G>C	ENST00000215793.8	-	5	834	c.680C>G	c.(679-681)tCa>tGa	p.S227*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.S162*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	227					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTTGAGCTTTGAAAATAAACC	0.423																																							uc003ahl.2		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(679-681)TCA>TGA		splicing factor 3a, subunit 1, 120kDa isoform 1							86.0	90.0	88.0					22																	30738840		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738840G>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.680C>G	22.37:g.30738840G>C	ENSP00000215793:p.Ser227*						p.S227*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			5	812	-			227					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.680C>G	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593400	0.86953	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	5.33	2.01	0.26516	.	0.923326	0.09445	N	0.801271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.3101	5.2646	0.15591	0.286:0.1532:0.5608:0.0	.	.	.	.	X	162;227;124	.	ENSP00000215793:S227X	S	-	2	0	SF3A1	29068840	0.061000	0.20836	0.862000	0.33874	0.914000	0.54420	1.006000	0.29847	0.708000	0.31955	0.561000	0.74099	TCA		0.423	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		9	62	0	0	0	0.000978	0	9	62				
BPIFC	254240	broad.mit.edu	37	22	32841872	32841872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:32841872G>T	ENST00000397452.1	-	5	596	c.486C>A	c.(484-486)taC>taA	p.Y162*	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Nonsense_Mutation_p.Y162*|BPIFC_ENST00000534972.1_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	162						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TCAGTTGGGCGTAGCAATCTT	0.522																																							uc003amn.2		NA																	0				ovary(1)|skin(1)	2						c.(484-486)TAC>TAA		bactericidal/permeability-increasing							83.0	81.0	81.0					22																	32841872		2203	4300	6503	SO:0001587	stop_gained	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32841872G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.486C>A	22.37:g.32841872G>T	ENSP00000380594:p.Tyr162*					BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_Intron	p.Y162*	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			4	486	-			162					A2RRF1	Nonsense_Mutation	SNP	ENST00000397452.1	37	c.486C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841934	0.51057	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	.	.	.	5.6	-11.2	0.00127	.	0.855830	0.10818	N	0.630767	.	.	.	.	.	.	0.47407	D	0.999411	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.3489	20.2435	0.98387	0.293:0.0:0.707:0.0	.	.	.	.	X	162	.	ENSP00000300399:Y162X	Y	-	3	2	BPIFC	31171872	0.000000	0.05858	0.039000	0.18376	0.457000	0.32468	-1.716000	0.01878	-2.657000	0.00421	-2.115000	0.00351	TAC		0.522	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		6	44	1	0	0.00116845	0.001168	0.00125927	6	44				
CYTH4	27128	broad.mit.edu	37	22	37690736	37690736	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:37690736A>G	ENST00000248901.6	+	3	325	c.138A>G	c.(136-138)caA>caG	p.Q46Q	CYTH4_ENST00000405206.3_Silent_p.Q46Q|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.Q46Q	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	46					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGTTTGCCCAAATCGACTGCT	0.587																																							uc003arf.2		NA																	0				ovary(2)	2						c.(136-138)CAA>CAG		cytohesin 4							145.0	130.0	135.0					22																	37690736		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37690736A>G	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.138A>G	22.37:g.37690736A>G						CYTH4_uc003ard.3_Silent_p.Q46Q|CYTH4_uc003are.2_Silent_p.Q46Q|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron	p.Q46Q	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			3	254	+			46			Potential.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.138A>G	CCDS13946.1																																																																																				0.587	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			20	68	0	0	0	0.002299	0	20	68				
APOBEC3G	60489	broad.mit.edu	37	22	39483021	39483021	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:39483021A>T	ENST00000407997.3	+	7	1387	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	APOBEC3G_ENST00000452957.2_Nonsense_Mutation_p.K344*	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	344					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCAGAATTTAAGCACTGCTG	0.572																																							uc003awx.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1030-1032)AAG>TAG		apolipoprotein B mRNA editing enzyme, catalytic							96.0	83.0	87.0					22																	39483021		2203	4300	6503	SO:0001587	stop_gained	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39483021A>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.1030A>T	22.37:g.39483021A>T	ENSP00000385057:p.Lys344*					APOBEC3G_uc003awy.2_Nonsense_Mutation_p.K277*	p.K344*	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			7	1372	+	Melanoma(58;0.04)		344					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Nonsense_Mutation	SNP	ENST00000407997.3	37	c.1030A>T	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	10.97	1.500159	0.26861	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	.	.	.	1.53	-3.05	0.05396	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.991	0.01457	0.3701:0.2979:0.1823:0.1497	.	.	.	.	X	344	.	ENSP00000385057:K344X	K	+	1	0	APOBEC3G	37812967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.646000	0.00860	-2.017000	0.00944	-3.342000	0.00043	AAG		0.572	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		17	44	0	0	0	0.00499	0	17	44				
CACNA1I	8911	broad.mit.edu	37	22	40055735	40055735	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:40055735T>C	ENST00000402142.3	+	14	2482	c.2482T>C	c.(2482-2484)Tac>Cac	p.Y828H	CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y828H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y793H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y793H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.Y834H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y793H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	828					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CGTCGTTCTCTACAATGGCAT	0.577																																							uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2482-2484)TAC>CAC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						136.0	140.0	138.0					22																	40055735		2075	4196	6271	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055735T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2482T>C	22.37:g.40055735T>C	ENSP00000385019:p.Tyr828His					CACNA1I_uc003ayd.2_Missense_Mutation_p.Y793H|CACNA1I_uc003aye.2_Missense_Mutation_p.Y743H|CACNA1I_uc003ayf.2_Missense_Mutation_p.Y708H	p.Y828H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			14	2482	+	Melanoma(58;0.0749)		828			Extracellular (Potential).|II.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2482T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431902	0.83776	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.67	4.67	0.58626	Ion transport (1);	0.133608	0.52532	D	0.000064	D	0.98362	0.9456	M	0.87971	2.92	0.50467	D	0.99987	D;D;D;D	0.76494	0.984;0.987;0.993;0.999	P;P;D;D	0.67548	0.877;0.898;0.917;0.952	D	0.99449	1.0940	10	0.87932	D	0	.	14.4248	0.67207	0.0:0.0:0.0:1.0	.	793;828;793;828	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	828;793;828;793;834;793	ENSP00000385019:Y828H;ENSP00000384093:Y793H;ENSP00000383887:Y828H;ENSP00000385680:Y793H;ENSP00000337829:Y834H;ENSP00000383028:Y793H	ENSP00000337829:Y834H	Y	+	1	0	CACNA1I	38385681	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.904000	0.87408	1.853000	0.53794	0.533000	0.62120	TAC		0.577	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		59	72	0	0	0	0.00361	0	59	72				
ENTHD1	150350	broad.mit.edu	37	22	40283560	40283560	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:40283560C>A	ENST00000325157.6	-	2	443	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	65	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGTTCTTCCCATGGTCATTG	0.413																																							uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(193-195)GGG>TGG		ENTH domain containing 1							169.0	168.0	169.0					22																	40283560		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283560C>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.193G>T	22.37:g.40283560C>A	ENSP00000317431:p.Gly65Trp						p.G65W	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	444	-	Melanoma(58;0.0749)		65			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.193G>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156604	0.78114	.	.	ENSG00000176177	ENST00000325157	T	0.49139	0.79	5.42	5.42	0.78866	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.75466	0.3853	M	0.92459	3.31	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.81280	-0.1004	10	0.87932	D	0	-16.3952	14.7814	0.69769	0.0:0.9285:0.0:0.0715	.	65	Q8IYW4	ENTD1_HUMAN	W	65	ENSP00000317431:G65W	ENSP00000317431:G65W	G	-	1	0	ENTHD1	38613506	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	2.551000	0.45820	2.703000	0.92315	0.655000	0.94253	GGG		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		24	119	1	0	9.86323e-18	0.003954	1.61073e-17	24	119				
SEPT3	55964	broad.mit.edu	37	22	42388689	42388689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:42388689G>T	ENST00000396426.3	+	8	1042	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.V199L|SEPT3_ENST00000396425.3_Missense_Mutation_p.V263L|SEPT3_ENST00000291236.11_Missense_Mutation_p.V199L	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	263	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GCCTTTTGCTGTGGTGGGAAG	0.532																																							uc003bbr.3		NA																	0					0						c.(787-789)GTG>TTG		septin 3 isoform A							165.0	123.0	138.0					22																	42388689		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42388689G>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.787G>T	22.37:g.42388689G>T	ENSP00000379704:p.Val263Leu					WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.V263L|SEPT3_uc010gyr.2_Missense_Mutation_p.V199L|SEPT3_uc011apj.1_Missense_Mutation_p.V199L|SEPT3_uc010gys.2_Missense_Mutation_p.V43L	p.V263L	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			8	925	+			263					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.787G>T	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	34	5.365682	0.95900	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.78916	2.43	0.80722	D	1	D;D;B;D;D	0.63046	0.992;0.99;0.402;0.99;0.992	D;P;P;D;D	0.77004	0.983;0.872;0.539;0.971;0.989	T	0.76924	-0.2779	10	0.87932	D	0	.	19.9633	0.97258	0.0:0.0:1.0:0.0	.	199;250;199;263;263	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	L	263;199;263;199	ENSP00000379704:V263L;ENSP00000383956:V199L;ENSP00000379703:V263L;ENSP00000291236:V199L	ENSP00000291236:V199L	V	+	1	0	SEPT3	40718635	1.000000	0.71417	0.991000	0.47740	0.885000	0.51271	9.490000	0.97952	2.805000	0.96524	0.460000	0.39030	GTG		0.532	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		3	13	1	0	0.00909568	0.009096	0.00949057	3	13				
TTC38	55020	broad.mit.edu	37	22	46681155	46681155	+	Silent	SNP	G	G	C	rs370728599		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:46681155G>C	ENST00000381031.3	+	9	889	c.813G>C	c.(811-813)gcG>gcC	p.A271A	TTC38_ENST00000445282.2_Silent_p.A213A	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	271						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ATGAGGCCGCGCTGACCATCT	0.468																																							uc003bhi.2		NA																	0				ovary(1)	1						c.(811-813)GCG>GCC		tetratricopeptide repeat domain 38							136.0	127.0	130.0					22																	46681155		1953	4143	6096	SO:0001819	synonymous_variant	55020						binding	g.chr22:46681155G>C		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.813G>C	22.37:g.46681155G>C						TTC38_uc011aqx.1_Silent_p.A213A	p.A271A	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN			9	889	+			271			TPR 3.		Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.813G>C	CCDS43030.1																																																																																				0.468	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		14	53	0	0	0	0.003163	0	14	53				
SLC6A1	6529	broad.mit.edu	37	3	11070434	11070434	+	Silent	SNP	G	G	A	rs199998696	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:11070434G>A	ENST00000287766.4	+	11	1513	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	SLC6A1_ENST00000536032.1_Silent_p.A186A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	364					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CCGGGCTGGCGTTCCTGGCAT	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		15701	0.002		0.001	False		,,,				2504	0.0						uc010hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(1090-1092)GCG>GCA		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						47.0	46.0	46.0					3																	11070434		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11070434G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1092G>A	3.37:g.11070434G>A							p.A364A	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	11	1503	+		Ovarian(110;0.0392)	364					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.1092G>A	CCDS2603.1																																																																																				0.532	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		9	18	0	0	0	0.006214	0	9	18				
XPC	7508	broad.mit.edu	37	3	14199617	14199617	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:14199617C>G	ENST00000285021.7	-	9	1980	c.1766G>C	c.(1765-1767)tGg>tCg	p.W589S	XPC_ENST00000449060.2_Missense_Mutation_p.W552S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	589	Interaction with RAD23B.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGTCATCCAGACTGGGTC	0.557			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc011ave.1		NA	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|breast(1)	3						c.(1765-1767)TGG>TCG	NER	xeroderma pigmentosum, complementation group C							152.0	137.0	142.0					3																	14199617		1568	3582	5150	SO:0001583	missense	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14199617C>G		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1766G>C	3.37:g.14199617C>G	ENSP00000285021:p.Trp589Ser					XPC_uc011avf.1_Missense_Mutation_p.W396S|XPC_uc011avg.1_Missense_Mutation_p.W552S	p.W589S	NM_004628	NP_004619	Q01831	XPC_HUMAN			9	1870	-			589			Interaction with RAD23B.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1766G>C	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746824	0.69418	.	.	ENSG00000154767	ENST00000285021;ENST00000538683;ENST00000449060	T;T	0.20598	2.06;2.06	5.59	5.59	0.84812	Rad4/PNGase transglutaminase-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	T	0.55611	-0.8114	10	0.87932	D	0	-17.4019	19.6056	0.95580	0.0:1.0:0.0:0.0	.	552;589	E9PH69;Q01831	.;XPC_HUMAN	S	589;85;552	ENSP00000285021:W589S;ENSP00000404002:W552S	ENSP00000285021:W589S	W	-	2	0	XPC	14174619	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.712000	0.84684	2.625000	0.88918	0.655000	0.94253	TGG		0.557	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		35	60	0	0	0	0.002836	0	35	60				
HACL1	26061	broad.mit.edu	37	3	15628078	15628078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:15628078G>A	ENST00000321169.5	-	6	780	c.413C>T	c.(412-414)tCt>tTt	p.S138F	HACL1_ENST00000457447.2_Intron|HACL1_ENST00000451445.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.S111F|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	138					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGGGCGGGCAGAGAACTTGGT	0.358																																							uc003caf.2		NA																	0					0						c.(412-414)TCT>TTT		2-hydroxyphytanoyl-CoA lyase							76.0	80.0	79.0					3																	15628078		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15628078G>A	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.413C>T	3.37:g.15628078G>A	ENSP00000323811:p.Ser138Phe					HACL1_uc011avr.1_Intron|HACL1_uc011avs.1_Missense_Mutation_p.S111F|HACL1_uc011avt.1_Intron|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Intron|HACL1_uc010hep.2_Intron	p.S138F	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			6	573	-			138					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.413C>T	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029108	0.75504	.	.	ENSG00000131373	ENST00000321169;ENST00000456194;ENST00000421993;ENST00000414979	T;T	0.34859	1.36;1.34	5.82	5.82	0.92795	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.048843	0.85682	D	0.000000	T	0.71863	0.3390	H	0.96048	3.76	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77004	0.986;0.989	T	0.80618	-0.1302	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.1426:0.8574:0.0	.	111;138	B4DWI1;Q9UJ83	.;HACL1_HUMAN	F	138;111;111;73	ENSP00000323811:S138F;ENSP00000390699:S111F	ENSP00000323811:S138F	S	-	2	0	HACL1	15603082	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.125000	0.71627	2.753000	0.94483	0.557000	0.71058	TCT		0.358	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		24	32	0	0	0	0.003954	0	24	32				
PLCL2	23228	broad.mit.edu	37	3	17052968	17052968	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:17052968G>A	ENST00000418129.2	+	2	2217	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	PLCL2_ENST00000432376.1_Missense_Mutation_p.M584I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M584I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	710					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGGACTGATGATGGACCTGA	0.468																																							uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2104-2106)ATG>ATA		phospholipase C-like 2 isoform 1							85.0	86.0	85.0					3																	17052968		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052968G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1752G>A	3.37:g.17052968G>A	ENSP00000409637:p.Met584Ile					PLCL2_uc011awd.1_Missense_Mutation_p.M584I	p.M702I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2211	+			710			PI-PLC Y-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2106G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299597	0.60195	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.66995	-0.24;-0.24;-0.24	4.95	4.08	0.47627	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.80884	0.4709	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.82737	-0.0309	9	0.59425	D	0.04	.	13.423	0.61009	0.0765:0.0:0.9235:0.0	.	710	Q9UPR0	PLCL2_HUMAN	I	584;711;584;584	ENSP00000409637:M584I;ENSP00000379979:M584I;ENSP00000412836:M584I	ENSP00000285094:M711I	M	+	3	0	PLCL2	17027972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.211000	0.43351	0.555000	0.69702	ATG		0.468	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			21	35	0	0	0	0.010504	0	21	35				
NEK10	152110	broad.mit.edu	37	3	27213309	27213309	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:27213309C>A	ENST00000429845.2	-	30	3194		c.e30+1		NEK10_ENST00000383770.3_Splice_Site|NEK10_ENST00000295720.6_Splice_Site|NEK10_ENST00000383771.4_Splice_Site|NEK10_ENST00000357467.2_Splice_Site|NEK10_ENST00000498182.1_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10						positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGCACCTACCTTGTTTGGG	0.358																																							uc010hfk.2		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.e8+1		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							79.0	78.0	78.0					3																	27213309		2203	4300	6503	SO:0001630	splice_region_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27213309C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2831+1G>T	3.37:g.27213309C>A						NEK10_uc003cds.1_Splice_Site_p.R341_splice|NEK10_uc010hfj.2_Splice_Site_p.R256_splice	p.R256_splice			Q6ZWH5	NEK10_HUMAN			8	996	-								A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Splice_Site	SNP	ENST00000429845.2	37	c.767_splice		.	.	.	.	.	.	.	.	.	.	C	18.15	3.560184	0.65538	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2024	0.73150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK10	27188313	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	2.990000	0.49401	2.654000	0.90174	0.563000	0.77884	.		0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	Intron	18	13	1	0	1.64113e-05	0.010504	1.89019e-05	18	13				
STT3B	201595	broad.mit.edu	37	3	31638349	31638349	+	Silent	SNP	C	C	T	rs567611130		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:31638349C>T	ENST00000295770.2	+	4	980	c.771C>T	c.(769-771)ttC>ttT	p.F257F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	257					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCCTATTTCTATATGGTAA	0.313																																							uc011axe.1		NA																	0					0						c.(769-771)TTC>TTT		source of immunodominant MHC-associated							120.0	118.0	119.0					3																	31638349		2201	4296	6497	SO:0001819	synonymous_variant	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31638349C>T	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.771C>T	3.37:g.31638349C>T						STT3B_uc010hft.1_Silent_p.F257F|STT3B_uc003cer.1_Silent_p.F257F|STT3B_uc003cet.2_Silent_p.F8F	p.F257F	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN			4	771	+			257			Helical; (Potential).		Q96JZ4|Q96KY7	Silent	SNP	ENST00000295770.2	37	c.771C>T	CCDS2650.1																																																																																				0.313	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		4	39	0	0	0	0.009096	0	4	39				
SCN11A	11280	broad.mit.edu	37	3	38889159	38889159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:38889159C>A	ENST00000302328.3	-	26	4600	c.4402G>T	c.(4402-4404)Gct>Tct	p.A1468S	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1430S|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1468S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1468					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAATCCGAGCCAAGCGGACA	0.488																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4402-4404)GCT>TCT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						42.0	46.0	45.0					3																	38889159		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889159C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4402G>T	3.37:g.38889159C>A	ENSP00000307599:p.Ala1468Ser						p.A1468S	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4601	-			1468			IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4402G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819370	0.90873	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98512	-4.97;-4.97;-4.97	5.83	5.83	0.93111	Ion transport (1);	0.165126	0.53938	D	0.000054	D	0.98877	0.9620	M	0.82323	2.585	0.58432	D	0.999991	D	0.64830	0.994	P	0.62649	0.905	D	0.98844	1.0756	10	0.39692	T	0.17	.	20.1195	0.97955	0.0:1.0:0.0:0.0	.	1468	Q9UI33	SCNBA_HUMAN	S	1468;1468;1430	ENSP00000307599:A1468S;ENSP00000400945:A1468S;ENSP00000416757:A1430S	ENSP00000307599:A1468S	A	-	1	0	SCN11A	38864163	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.900000	0.69853	2.759000	0.94783	0.650000	0.86243	GCT		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	20	1	0	0.00185496	0.001855	0.0019917	8	20				
EXOSC7	23016	broad.mit.edu	37	3	45052814	45052814	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:45052814G>T	ENST00000265564.7	+	8	907	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GAGACAGAAAGTTGGATTCCT	0.468																																							uc003coi.2		NA																	0					0						c.(859-861)GTT>TTT		exosome component 7							75.0	71.0	72.0					3																	45052814		2203	4300	6503	SO:0001583	missense	23016				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr3:45052814G>T	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.859G>T	3.37:g.45052814G>T	ENSP00000265564:p.Val287Phe					EXOSC7_uc003coh.1_Missense_Mutation_p.V222F|EXOSC7_uc010his.1_Missense_Mutation_p.V206F|EXOSC7_uc003coj.2_Missense_Mutation_p.V287F	p.V287F	NM_015004	NP_055819	Q15024	EXOS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)	8	888	+			287					Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	c.859G>T	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699100	0.48307	.	.	ENSG00000075914	ENST00000265564	T	0.35048	1.33	6.04	6.04	0.98038	.	0.108387	0.64402	D	0.000006	T	0.33673	0.0871	M	0.61703	1.905	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.14448	-1.0472	10	0.07644	T	0.81	-24.3362	13.7479	0.62887	0.0698:0.0:0.9302:0.0	.	287;287	B2RDZ9;Q15024	.;EXOS7_HUMAN	F	287	ENSP00000265564:V287F	ENSP00000265564:V287F	V	+	1	0	EXOSC7	45027818	1.000000	0.71417	0.777000	0.31699	0.983000	0.72400	7.486000	0.81215	2.873000	0.98535	0.563000	0.77884	GTT		0.468	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		10	4	1	0	2.74318e-10	0.006214	3.69688e-10	10	4				
EXOSC7	23016	broad.mit.edu	37	3	45052818	45052818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:45052818G>T	ENST00000265564.7	+	8	911	c.863G>T	c.(862-864)gGa>gTa	p.G288V	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	288					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CAGAAAGTTGGATTCCTGGGA	0.453																																							uc003coi.2		NA																	0					0						c.(862-864)GGA>GTA		exosome component 7							73.0	70.0	71.0					3																	45052818		2203	4300	6503	SO:0001583	missense	23016				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr3:45052818G>T	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.863G>T	3.37:g.45052818G>T	ENSP00000265564:p.Gly288Val					EXOSC7_uc003coh.1_Missense_Mutation_p.G223V|EXOSC7_uc010his.1_Missense_Mutation_p.G207V|EXOSC7_uc003coj.2_Missense_Mutation_p.G288V	p.G288V	NM_015004	NP_055819	Q15024	EXOS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)	8	892	+			288					Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	c.863G>T	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068365	0.93950	.	.	ENSG00000075914	ENST00000265564	T	0.37752	1.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	T	0.73081	-0.4095	10	0.87932	D	0	-16.0514	20.5948	0.99439	0.0:0.0:1.0:0.0	.	288;288	B2RDZ9;Q15024	.;EXOS7_HUMAN	V	288	ENSP00000265564:G288V	ENSP00000265564:G288V	G	+	2	0	EXOSC7	45027822	1.000000	0.71417	0.834000	0.33040	0.976000	0.68499	9.267000	0.95665	2.873000	0.98535	0.563000	0.77884	GGA		0.453	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		11	3	1	0	6.42651e-13	0.000978	9.33236e-13	11	3				
LTF	4057	broad.mit.edu	37	3	46480871	46480871	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:46480871G>A	ENST00000231751.4	-	15	2119	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C	LTF_ENST00000417439.1_Silent_p.C606C|LTF_ENST00000426532.2_Silent_p.C564C|LTF_ENST00000493056.1_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGCAAGATGGCAGCTTCTAG	0.547																																							uc003cpq.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1822-1824)TGC>TGT		lactotransferrin precursor	Pefloxacin(DB00487)						133.0	110.0	118.0					3																	46480871		2203	4300	6503	SO:0001819	synonymous_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46480871G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1824C>T	3.37:g.46480871G>A						LTF_uc003fzr.2_Silent_p.C564C|LTF_uc010hjh.2_Silent_p.C606C|LTF_uc003cpr.2_Silent_p.C595C	p.C608C	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	15	1862	-			608			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	c.1824C>T	CCDS33747.1																																																																																				0.547	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		25	21	0	0	0	0.003954	0	25	21				
SETD2	29072	broad.mit.edu	37	3	47098323	47098323	+	Silent	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:47098323T>G	ENST00000409792.3	-	15	6993	c.6951A>C	c.(6949-6951)ccA>ccC	p.P2317P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2317	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTACAATTGGTGGAGTTGTCT	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6949-6951)CCA>CCC		SET domain containing 2							95.0	94.0	94.0					3																	47098323		2203	4300	6503	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098323T>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6951A>C	3.37:g.47098323T>G						SETD2_uc003cqv.2_Silent_p.P2384P	p.P2317P	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	7004	-		Acute lymphoblastic leukemia(5;0.0169)	2317			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.6951A>C	CCDS2749.2																																																																																				0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		23	14	0	0	0	0.003954	0	23	14				
UQCRC1	7384	broad.mit.edu	37	3	48637544	48637544	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:48637544C>T	ENST00000203407.5	-	11	1670	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	418					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCATAGGTCAGGAGGCTGC	0.602																																					NSCLC(81;1112 1427 27031 32409 45529)	NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1		NA																	0					0						c.(1252-1254)CTG>CTA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						92.0	82.0	85.0					3																	48637544		2203	4300	6503	SO:0001819	synonymous_variant	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637544C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1254G>A	3.37:g.48637544C>T						UQCRC1_uc003cua.1_Silent_p.L303L|UQCRC1_uc003cuc.1_Silent_p.L419L|UQCRC1_uc003cud.1_Silent_p.L417L	p.L418L	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1299	-			418					B2R7R8|Q96DD2	Silent	SNP	ENST00000203407.5	37	c.1254G>A	CCDS2774.1																																																																																				0.602	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		7	33	0	0	0	0.006214	0	7	33				
CELSR3	1951	broad.mit.edu	37	3	48697443	48697443	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:48697443G>T	ENST00000164024.4	-	1	2905	c.2625C>A	c.(2623-2625)agC>agA	p.S875R	CELSR3_ENST00000544264.1_Missense_Mutation_p.S875R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	875	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ccactatggtgctacccattg	0.517																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2623-2625)AGC>AGA		cadherin EGF LAG seven-pass G-type receptor 3							122.0	107.0	112.0					3																	48697443		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697443G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2625C>A	3.37:g.48697443G>T	ENSP00000164024:p.Ser875Arg					CELSR3_uc003cuf.1_Missense_Mutation_p.S945R	p.S875R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2906	-			875			Extracellular (Potential).|Cadherin 6.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2625C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598730	0.46318	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52983	0.64;0.64	5.52	4.65	0.58169	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67748	0.2926	M	0.75085	2.285	0.58432	D	0.999999	P;D	0.89917	0.956;1.0	D;D	0.80764	0.969;0.994	T	0.72097	-0.4393	9	0.72032	D	0.01	.	14.0865	0.64959	0.0723:0.0:0.9277:0.0	.	875;945	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	R	875	ENSP00000164024:S875R;ENSP00000445694:S875R	ENSP00000164024:S875R	S	-	3	2	CELSR3	48672447	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	5.658000	0.68003	1.343000	0.45638	0.561000	0.74099	AGC		0.517	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		27	16	1	0	3.73808e-20	0.005443	6.4018e-20	27	16				
DNAH1	25981	broad.mit.edu	37	3	52426606	52426606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:52426606G>T	ENST00000420323.2	+	64	10440	c.10179G>T	c.(10177-10179)caG>caT	p.Q3393H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3458	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGACCAGATCCTGTACC	0.562																																							uc011bef.1		NA																	0				large_intestine(3)	3						c.(10177-10179)CAG>CAT		dynein, axonemal, heavy chain 1							64.0	75.0	71.0					3																	52426606		2090	4213	6303	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52426606G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10179G>T	3.37:g.52426606G>T	ENSP00000401514:p.Gln3393His					DNAH1_uc003ddv.2_Missense_Mutation_p.Q251H	p.Q3393H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	64	10440	+			3458			Potential.|AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10179G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.164636	0.57476	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.57907	0.37	4.5	3.63	0.41609	.	0.000000	0.64402	D	0.000016	T	0.74076	0.3669	M	0.87827	2.91	0.51233	D	0.999919	D;D	0.71674	0.994;0.998	P;D	0.80764	0.873;0.994	T	0.79130	-0.1930	10	0.87932	D	0	.	12.7884	0.57520	0.0797:0.0:0.9203:0.0	.	3393;3458	C9JXH6;Q9P2D7-2	.;.	H	3393;146	ENSP00000401514:Q3393H	ENSP00000273600:Q146H	Q	+	3	2	DNAH1	52401646	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.868000	0.56055	1.139000	0.42245	-0.320000	0.08662	CAG		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		8	7	1	0	3.09899e-07	0.004482	3.79672e-07	8	7				
DCP1A	55802	broad.mit.edu	37	3	53326447	53326447	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:53326447C>T	ENST00000607628.1	-	7	1144	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.V307V|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000294241.6_Silent_p.V345V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	345					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GCGTGGTCTTCACTGCCTGCA	0.587																																							uc003dgs.3		NA																	0					0						c.(1033-1035)GTG>GTA		DCP1 decapping enzyme homolog A							74.0	78.0	76.0					3																	53326447		2128	4239	6367	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53326447C>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1035G>A	3.37:g.53326447C>T						DCP1A_uc003dgt.3_RNA	p.V345V	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	7	1128	-			345					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.1035G>A																																																																																					0.587	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		12	20	0	0	0	0.000978	0	12	20				
CACNA1D	776	broad.mit.edu	37	3	53699724	53699724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:53699724G>T	ENST00000350061.5	+	6	1315	c.804G>T	c.(802-804)atG>atT	p.M268I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.M268I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.M268I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	268					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)			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)	TAAAAGCCATGGTTCCCCTCC	0.333																																							uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(802-804)ATG>ATT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						143.0	144.0	143.0					3																	53699724		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.chr3:53699724G>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.804G>T	3.37:g.53699724G>T	ENSP00000288133:p.Met268Ile					CACNA1D_uc003dgu.3_Missense_Mutation_p.M268I|CACNA1D_uc003dgy.3_Missense_Mutation_p.M268I|CACNA1D_uc003dgw.3_5'Flank	p.M268I	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)	6	967	+			268			Cytoplasmic (Potential).|I.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.804G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833656	0.91036	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98313	-4.86;-4.86;-4.86	5.08	5.08	0.68730	Ion transport (1);	0.049675	0.85682	D	0.000000	D	0.98248	0.9420	L	0.48935	1.535	0.80722	D	1	P;D;P	0.55605	0.89;0.972;0.753	P;D;B	0.63381	0.714;0.914;0.406	D	0.99013	1.0815	10	0.54805	T	0.06	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	268;268;268	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	I	268	ENSP00000288133:M268I;ENSP00000288139:M268I;ENSP00000409174:M268I	ENSP00000288139:M268I	M	+	3	0	CACNA1D	53674764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	ATG		0.333	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		34	31	1	0	9.8876e-21	0.004878	1.70549e-20	34	31				
ERC2	26059	broad.mit.edu	37	3	56468732	56468732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:56468732G>A	ENST00000288221.6	-	2	559	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	102						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCAATATTGGGACTACTCCCC	0.522																																							uc003dhr.1		NA																	0				ovary(2)	2						c.(304-306)CCC>TCC		cytomatrix protein p110							196.0	191.0	193.0					3																	56468732		2008	4170	6178	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468732G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.304C>T	3.37:g.56468732G>A	ENSP00000288221:p.Pro102Ser						p.P102S	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	560	-			102					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.304C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726596	0.89298	.	.	ENSG00000187672	ENST00000288221	T	0.40225	1.04	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.61227	-0.7105	10	0.72032	D	0.01	-23.5451	20.024	0.97514	0.0:0.0:1.0:0.0	.	102	O15083	ERC2_HUMAN	S	102	ENSP00000288221:P102S	ENSP00000288221:P102S	P	-	1	0	ERC2	56443772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.718000	0.92993	0.655000	0.94253	CCC		0.522	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		22	56	0	0	0	0.00333	0	22	56				
FAM3D	131177	broad.mit.edu	37	3	58622031	58622031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:58622031G>T	ENST00000358781.2	-	9	885	c.575C>A	c.(574-576)cCc>cAc	p.P192H	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	192					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CTGCTCAAAGGGGCTTTTACC	0.572																																							uc003dkq.2		NA																	0					0						c.(574-576)CCC>CAC		family with sequence similarity 3, member D							75.0	78.0	77.0					3																	58622031		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58622031G>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.575C>A	3.37:g.58622031G>T	ENSP00000351632:p.Pro192His						p.P192H	NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	9	872	-			192					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.575C>A	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283332	0.80803	.	.	ENSG00000198643	ENST00000358781	T	0.22945	1.93	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.52895	-0.8514	10	0.40728	T	0.16	-33.0551	16.6484	0.85182	0.0:0.0:1.0:0.0	.	192	Q96BQ1	FAM3D_HUMAN	H	192	ENSP00000351632:P192H	ENSP00000351632:P192H	P	-	2	0	FAM3D	58597071	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.009000	0.93606	2.599000	0.87857	0.655000	0.94253	CCC		0.572	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		27	11	1	0	3.73808e-20	0.005443	6.4018e-20	27	11				
MAGI1	9223	broad.mit.edu	37	3	65347012	65347012	+	Splice_Site	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:65347012T>C	ENST00000497477.2	-	21	3294	c.3295A>G	c.(3295-3297)Att>Gtt	p.I1099V	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Splice_Site_p.I1195V|MAGI1_ENST00000402939.2_Splice_Site_p.I1166V|MAGI1_ENST00000330909.8_Splice_Site_p.I1194V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1195					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATCACCAATCTGCCAAAGC	0.393																																							uc003dmn.2		NA																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(3496-3498)ATT>GTT		membrane associated guanylate kinase, WW and PDZ							86.0	83.0	84.0					3																	65347012		2203	4300	6503	SO:0001630	splice_region_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65347012T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3295-1A>G	3.37:g.65347012T>C						MAGI1_uc003dmm.2_Missense_Mutation_p.I1194V|MAGI1_uc003dmo.2_Missense_Mutation_p.I1195V|MAGI1_uc003dmp.2_Missense_Mutation_p.I1099V	p.I1166V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	22	4022	-		Lung NSC(201;0.0016)	1195			PDZ 6.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3496A>G		.	.	.	.	.	.	.	.	.	.	T	1.433	-0.569671	0.03910	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.52	4.36	0.52297	.	0.245550	0.43579	N	0.000551	T	0.05868	0.0153	N	0.00538	-1.39	0.48236	D	0.999612	B;B;B;B	0.18968	0.032;0.0;0.0;0.0	B;B;B;B	0.12837	0.008;0.002;0.004;0.003	T	0.26608	-1.0098	10	0.02654	T	1	-6.4973	8.6035	0.33758	0.0:0.1479:0.0:0.8521	.	1099;1195;1166;1194	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	V	1166;1194;1090;1070;1195;1099;953	ENSP00000385450:I1166V;ENSP00000331157:I1194V;ENSP00000418177:I1070V;ENSP00000420323:I1195V;ENSP00000424369:I1099V;ENSP00000420796:I953V	ENSP00000331157:I1194V	I	-	1	0	MAGI1	65322052	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.950000	0.56676	0.919000	0.36945	0.528000	0.53228	ATT		0.393	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	Missense_Mutation	16	38	0	0	0	0.003163	0	16	38				
CNTN3	5067	broad.mit.edu	37	3	74334455	74334455	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:74334455C>G	ENST00000263665.6	-	19	2732		c.e19+1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATACTTACGCGTTTTCTT	0.428																																							uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.e19+1		contactin 3 precursor							112.0	120.0	117.0					3																	74334455		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334455C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2704+1G>C	3.37:g.74334455C>G							p.P902_splice	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2784	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.2704_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103546	0.56291	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.4	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5252	0.67884	0.0:0.929:0.0:0.071	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74417145	1.000000	0.71417	0.436000	0.26797	0.519000	0.34347	7.492000	0.81482	1.394000	0.46624	0.655000	0.94253	.		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Intron	62	48	0	0	0	0.00361	0	62	48				
ROBO1	6091	broad.mit.edu	37	3	78656106	78656106	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:78656106C>T	ENST00000464233.1	-	29	4634	c.4521G>A	c.(4519-4521)gtG>gtA	p.V1507V	ROBO1_ENST00000436010.2_Silent_p.V1468V|ROBO1_ENST00000467549.1_Silent_p.V1407V|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Silent_p.V1462V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1507					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTTGGCACCACTACAGGTC	0.473																																							uc003dqe.2		NA																	0				large_intestine(2)	2						c.(4519-4521)GTG>GTA		roundabout 1 isoform a							232.0	221.0	224.0					3																	78656106		2036	4193	6229	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78656106C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4521G>A	3.37:g.78656106C>T						ROBO1_uc003dqb.2_Silent_p.V1468V|ROBO1_uc003dqc.2_Silent_p.V1407V|ROBO1_uc003dqd.2_Silent_p.V1462V|ROBO1_uc010hoh.2_Silent_p.V699V|ROBO1_uc011bgl.1_Silent_p.V1079V	p.V1507V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	29	4729	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1507			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.4521G>A	CCDS54611.1																																																																																				0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		52	41	0	0	0	0.00361	0	52	41				
MINA	84864	broad.mit.edu	37	3	97686167	97686167	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:97686167T>A	ENST00000333396.7	-	2	853	c.271A>T	c.(271-273)Agc>Tgc	p.S91C	MINA_ENST00000330299.2_Missense_Mutation_p.S91C|MINA_ENST00000360258.4_Missense_Mutation_p.S91C|MINA_ENST00000394198.2_Missense_Mutation_p.S91C	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ATCCCCCGGCTGCACAGACTC	0.478																																							uc003drz.1		NA																	0				ovary(1)	1						c.(271-273)AGC>TGC		MYC induced nuclear antigen isoform a							199.0	215.0	209.0					3																	97686167		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97686167T>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.271A>T	3.37:g.97686167T>A	ENSP00000328251:p.Ser91Cys					MINA_uc003dsa.1_Missense_Mutation_p.S91C|MINA_uc003dsb.1_Missense_Mutation_p.S91C|MINA_uc003dsc.1_Missense_Mutation_p.S91C|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	p.S91C	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			2	777	-			91						Missense_Mutation	SNP	ENST00000333396.7	37	c.271A>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606877	0.46527	.	.	ENSG00000170854	ENST00000333396;ENST00000394198;ENST00000360258;ENST00000330299;ENST00000506099	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.92	0.861	0.19048	Cupin, JmjC-type (1);	0.685899	0.16527	N	0.210552	T	0.23370	0.0565	M	0.69185	2.1	0.25832	N	0.984157	D;D	0.56521	0.97;0.976	P;P	0.56474	0.698;0.799	T	0.06935	-1.0799	10	0.56958	D	0.05	-0.6039	5.7621	0.18207	0.0:0.2622:0.1281:0.6097	.	91;91	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	C	91	ENSP00000328251:S91C;ENSP00000377748:S91C;ENSP00000353395:S91C;ENSP00000327424:S91C;ENSP00000423816:S91C	ENSP00000327424:S91C	S	-	1	0	MINA	99168857	0.523000	0.26274	0.661000	0.29709	0.225000	0.24961	-0.164000	0.09983	-0.064000	0.13043	0.528000	0.53228	AGC		0.478	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		112	232	0	0	0	0.00361	0	112	232				
MYH15	22989	broad.mit.edu	37	3	108195258	108195258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:108195258G>T	ENST00000273353.3	-	13	1335	c.1279C>A	c.(1279-1281)Caa>Aaa	p.Q427K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	427	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTATAGTTTGACCTCTGGTA	0.338																																							uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(1279-1281)CAA>AAA		myosin, heavy polypeptide 15							77.0	73.0	74.0					3																	108195258		1850	4101	5951	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108195258G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1279C>A	3.37:g.108195258G>T	ENSP00000273353:p.Gln427Lys						p.Q427K	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			13	1336	-			427			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1279C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639597	0.87760	.	.	ENSG00000144821	ENST00000273353	T	0.71934	-0.61	6.05	6.05	0.98169	Myosin head, motor domain (2);	.	.	.	.	D	0.87795	0.6267	M	0.88775	2.98	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	D	0.88585	0.3139	9	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	427	Q9Y2K3	MYH15_HUMAN	K	427	ENSP00000273353:Q427K	ENSP00000273353:Q427K	Q	-	1	0	MYH15	109677948	1.000000	0.71417	0.996000	0.52242	0.620000	0.37586	6.397000	0.73239	2.878000	0.98634	0.650000	0.86243	CAA		0.338	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		17	15	1	0	7.07596e-05	0.006122	7.95287e-05	17	15				
DZIP3	9666	broad.mit.edu	37	3	108392970	108392970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:108392970G>T	ENST00000361582.3	+	24	2865	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.E879*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	879					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCTTCATCTAGAGCAGACTGA	0.408																																							uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2635-2637)GAG>TAG		DAZ interacting protein 3, zinc finger							173.0	169.0	170.0					3																	108392970		2203	4299	6502	SO:0001587	stop_gained	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108392970G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2635G>T	3.37:g.108392970G>T	ENSP00000355028:p.Glu879*					DZIP3_uc003dxf.1_Nonsense_Mutation_p.E879*|DZIP3_uc011bhm.1_Nonsense_Mutation_p.E330*	p.E879*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			24	3057	+			879					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	ENST00000361582.3	37	c.2635G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	40	7.913168	0.98557	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	4.56	4.56	0.56223	.	0.000000	0.46145	D	0.000311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.4805	12.692	0.56980	0.0:0.0:1.0:0.0	.	.	.	.	X	879	.	ENSP00000355028:E879X	E	+	1	0	DZIP3	109875660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	2.376000	0.81061	0.563000	0.77884	GAG		0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		72	59	1	0	5.42381e-49	0.00361	1.04004e-48	72	59				
SLC9C1	285335	broad.mit.edu	37	3	111898518	111898518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:111898518C>T	ENST00000305815.5	-	23	3031	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D879N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	927					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ACCATTTGATCAATCCCTAAA	0.338																																							uc003dyu.2		NA																	0				ovary(3)|breast(2)	5						c.(2779-2781)GAT>AAT		sperm-specific sodium proton exchanger							64.0	64.0	64.0					3																	111898518		2203	4299	6502	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898518C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2779G>A	3.37:g.111898518C>T	ENSP00000306627:p.Asp927Asn					SLC9A10_uc011bhu.1_Missense_Mutation_p.D190N|SLC9A10_uc010hqc.2_Missense_Mutation_p.D879N	p.D927N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			23	3001	-			927			cNMP.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2779G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290826	0.40494	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.42131	0.98;0.98	5.98	5.1	0.69264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.502367	0.19784	N	0.106159	T	0.54711	0.1875	L	0.56340	1.77	0.09310	N	1	D;D	0.62365	0.991;0.989	D;P	0.63283	0.913;0.773	T	0.48031	-0.9070	10	0.45353	T	0.12	-9.2893	10.9094	0.47099	0.0:0.9144:0.0:0.0856	.	879;927	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	927;879	ENSP00000306627:D927N;ENSP00000420688:D879N	ENSP00000306627:D927N	D	-	1	0	SLC9A10	113381208	0.060000	0.20803	0.015000	0.15790	0.038000	0.13279	1.419000	0.34793	1.531000	0.49152	0.514000	0.50259	GAT		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		6	44	0	0	0	0.001168	0	6	44				
CD200R1	131450	broad.mit.edu	37	3	112647867	112647867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:112647867C>A	ENST00000471858.1	-	4	728	c.496G>T	c.(496-498)Gta>Tta	p.V166L	CD200R1_ENST00000295863.4_Missense_Mutation_p.V144L|CD200R1_ENST00000308611.3_Missense_Mutation_p.V189L|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	166	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCCTTGCATACTGCAGTTCTA	0.473																																							uc003dzk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(496-498)GTA>TTA		CD200 receptor 1 isoform d							81.0	72.0	75.0					3																	112647867		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112647867C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.496G>T	3.37:g.112647867C>A	ENSP00000418928:p.Val166Leu					CD200R1_uc003dzj.1_Missense_Mutation_p.V189L|CD200R1_uc011bhx.1_Missense_Mutation_p.V144L|CD200R1_uc003dzl.1_3'UTR|CD200R1_uc003dzm.1_3'UTR	p.V166L	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			4	729	-			166			Ig-like C2-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.496G>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824128	0.50739	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.75938	-0.98;-0.98;-0.98	5.43	4.54	0.55810	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.211412	0.32884	N	0.005530	D	0.84138	0.5406	M	0.81497	2.545	0.80722	D	1	D;D;D	0.69078	0.997;0.979;0.974	D;P;P	0.72338	0.977;0.875;0.802	D	0.85075	0.0942	10	0.66056	D	0.02	.	9.1496	0.36955	0.0:0.8385:0.0:0.1615	.	144;166;189	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	L	166;189;144	ENSP00000418928:V166L;ENSP00000311035:V189L;ENSP00000295863:V144L	ENSP00000295863:V144L	V	-	1	0	CD200R1	114130557	0.063000	0.20901	0.811000	0.32455	0.187000	0.23431	0.730000	0.26043	2.538000	0.85594	0.650000	0.86243	GTA		0.473	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		34	14	1	0	2.80507e-11	0.002445	3.88934e-11	34	14				
GRAMD1C	54762	broad.mit.edu	37	3	113594425	113594425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:113594425G>T	ENST00000358160.4	+	4	846	c.354G>T	c.(352-354)tgG>tgT	p.W118C	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	118	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTTCAGATGGGAAACTACAG	0.338																																							uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(352-354)TGG>TGT		GRAM domain containing 1C							108.0	105.0	106.0					3																	113594425		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113594425G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.354G>T	3.37:g.113594425G>T	ENSP00000350881:p.Trp118Cys					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	p.W118C	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			4	430	+			118			GRAM.		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.354G>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467947	0.63625	.	.	ENSG00000178075	ENST00000358160	D	0.87729	-2.29	5.58	4.71	0.59529	GRAM (2);	0.000000	0.53938	D	0.000055	D	0.95001	0.8382	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95866	0.8887	10	0.87932	D	0	.	13.215	0.59854	0.0779:0.0:0.9221:0.0	.	118	Q8IYS0	GRM1C_HUMAN	C	118	ENSP00000350881:W118C	ENSP00000350881:W118C	W	+	3	0	GRAMD1C	115077115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	1.379000	0.46325	0.650000	0.86243	TGG		0.338	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		33	56	1	0	1.21669e-08	0.003271	1.57634e-08	33	56				
GRAMD1C	54762	broad.mit.edu	37	3	113659180	113659180	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:113659180G>C	ENST00000358160.4	+	17	2388	c.1896G>C	c.(1894-1896)gtG>gtC	p.V632V	GRAMD1C_ENST00000452134.2_Silent_p.V361V|GRAMD1C_ENST00000472026.1_Silent_p.V465V|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.V427V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	632						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTCCATAGTGATGCTTGAAC	0.408																																							uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(1894-1896)GTG>GTC		GRAM domain containing 1C							121.0	121.0	121.0					3																	113659180		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113659180G>C		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1896G>C	3.37:g.113659180G>C						GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.V465V|GRAMD1C_uc003eas.2_Silent_p.V427V|GRAMD1C_uc003eat.2_Silent_p.V291V	p.V632V	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			17	1972	+			632					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.1896G>C	CCDS33826.1																																																																																				0.408	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		31	94	0	0	0	0.003271	0	31	94				
CD86	942	broad.mit.edu	37	3	121822406	121822406	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:121822406C>A	ENST00000330540.2	+	3	228	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.L32M	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	38	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GACTGCAGACCTGCCATGCCA	0.428																																					GBM(67;1379 1389 36064 39806)	GBM(67;1379 1389 36064 39806)	uc003eet.2		NA																	0				pancreas(1)|skin(1)	2						c.(112-114)CTG>ATG		CD86 antigen isoform 1	Abatacept(DB01281)						85.0	85.0	85.0					3																	121822406		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822406C>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.112C>A	3.37:g.121822406C>A	ENSP00000332049:p.Leu38Met					CD86_uc011bjo.1_Translation_Start_Site|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.L32M	p.L38M	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	228	+			38			Ig-like V-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.112C>A	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.929635|2.929635	0.52759|0.52759	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.79033|.	-1.23;-1.23;-1.23|.	5.24|5.24	3.38|3.38	0.38709|0.38709	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.44097|.	D|.	0.000490|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.88842|0.88842	2.985|2.985	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.74411|0.74411	-0.3674|-0.3674	10|5	0.87932|.	D|.	0|.	-14.8821|-14.8821	6.6676|6.6676	0.23050|0.23050	0.0:0.7724:0.0:0.2276|0.0:0.7724:0.0:0.2276	.|.	38|.	P42081|.	CD86_HUMAN|.	M|H	38;32;32|33	ENSP00000332049:L38M;ENSP00000419116:L32M;ENSP00000377248:L32M|.	ENSP00000332049:L38M|.	L|P	+|+	1|2	2|0	CD86|CD86	123305096|123305096	0.397000|0.397000	0.25270|0.25270	0.484000|0.484000	0.27391|0.27391	0.813000|0.813000	0.45954|0.45954	0.603000|0.603000	0.24149|0.24149	0.834000|0.834000	0.34852|0.34852	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		11	60	1	0	6.40141e-05	0.000978	7.21159e-05	11	60				
ADCY5	111	broad.mit.edu	37	3	123019011	123019011	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:123019011G>A	ENST00000462833.1	-	15	4068	c.2856C>T	c.(2854-2856)gtC>gtT	p.V952V	ADCY5_ENST00000491190.1_Silent_p.V585V|ADCY5_ENST00000309879.5_Silent_p.V602V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	952					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGAAGAGCGTGACACCTGGCA	0.622																																							uc003egh.1		NA																	0				ovary(4)	4						c.(2854-2856)GTC>GTT		adenylate cyclase 5							153.0	115.0	128.0					3																	123019011		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123019011G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2856C>T	3.37:g.123019011G>A						ADCY5_uc003egg.1_Silent_p.V585V|ADCY5_uc003egi.1_Silent_p.V511V	p.V952V	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	15	2856	-			952			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2856C>T	CCDS3022.1																																																																																				0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		11	52	0	0	0	0.000978	0	11	52				
OSBPL11	114885	broad.mit.edu	37	3	125298818	125298818	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:125298818C>T	ENST00000296220.5	-	3	589	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	100	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCTAGGTTTCTGATTTCTAG	0.378																																							uc003eic.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(298-300)CAG>CAA		oxysterol binding protein-like 11							104.0	106.0	105.0					3																	125298818		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125298818C>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.300G>A	3.37:g.125298818C>T							p.Q100Q	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			3	1037	-			100			PH.		A8K9I7	Silent	SNP	ENST00000296220.5	37	c.300G>A	CCDS3033.1																																																																																				0.378	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		29	73	0	0	0	0.007291	0	29	73				
IFT122	55764	broad.mit.edu	37	3	129195286	129195286	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:129195286G>T	ENST00000348417.2	+	10	1022	c.945G>T	c.(943-945)ggG>ggT	p.G315G	IFT122_ENST00000347300.2_Silent_p.G256G|IFT122_ENST00000296266.3_Silent_p.G366G|IFT122_ENST00000431818.2_Silent_p.G165G|IFT122_ENST00000349441.2_Silent_p.G204G|IFT122_ENST00000507564.1_Silent_p.G307G|IFT122_ENST00000440957.2_Silent_p.G106G|IFT122_ENST00000504021.1_Silent_p.G209G	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	315					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGCGGCTTGGGACTGTTGGGG	0.507																																							uc003emm.2		NA																	0				ovary(1)|skin(1)	2						c.(943-945)GGG>GGT		WD repeat domain 10 isoform 2							129.0	128.0	128.0					3																	129195286		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129195286G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.945G>T	3.37:g.129195286G>T						IFT122_uc003eml.2_Silent_p.G366G|IFT122_uc003emn.2_Silent_p.G256G|IFT122_uc003emo.2_Silent_p.G204G|IFT122_uc003emp.2_Silent_p.G165G|IFT122_uc010htc.2_Silent_p.G307G|IFT122_uc011bky.1_Silent_p.G106G|IFT122_uc003emq.2_Silent_p.G155G|IFT122_uc003emr.2_Silent_p.G106G|IFT122_uc011bla.1_Silent_p.G106G|IFT122_uc011bkx.1_Silent_p.G155G|IFT122_uc011bkz.1_RNA	p.G315G	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			10	1151	+			315			WD 5.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.945G>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	9.922	1.212364	0.22289	.	.	ENSG00000163913	ENST00000512157;ENST00000515783	.	.	.	5.75	2.93	0.34026	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34428	-0.9829	4	.	.	.	-32.6622	3.0759	0.06246	0.1896:0.2175:0.4812:0.1117	.	.	.	.	Y	194;142	.	.	D	+	1	0	IFT122	130677976	0.837000	0.29446	1.000000	0.80357	0.998000	0.95712	-0.129000	0.10515	0.750000	0.32877	0.591000	0.81541	GAC		0.507	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		20	98	1	0	1.22574e-08	0.002299	1.58379e-08	20	98				
TOPBP1	11073	broad.mit.edu	37	3	133368263	133368263	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:133368263G>A	ENST00000260810.5	-	10	1599	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	490					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGAGAGCAGATCTTCATCA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1468-1470)CTG>TTG	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							118.0	106.0	109.0					3																	133368263		1850	4098	5948	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133368263G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1468C>T	3.37:g.133368263G>A							p.L490L	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			10	1600	-			490					B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.1468C>T	CCDS46919.1																																																																																				0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		13	46	0	0	0	0.00245	0	13	46				
SOX14	8403	broad.mit.edu	37	3	137483993	137483993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:137483993G>T	ENST00000306087.1	+	1	415	c.367G>T	c.(367-369)Gag>Tag	p.E123*		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	123					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GAGCGCGCCCGAGAAAGCCCG	0.706																																							uc003erm.1		NA																	0					0						c.(367-369)GAG>TAG		SRY-box 14							24.0	31.0	28.0					3																	137483993		2197	4287	6484	SO:0001587	stop_gained	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483993G>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.367G>T	3.37:g.137483993G>T	ENSP00000305343:p.Glu123*						p.E123*	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	415	+			123					B2RAC0|Q3KPH7	Nonsense_Mutation	SNP	ENST00000306087.1	37	c.367G>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129139	0.94473	.	.	ENSG00000168875	ENST00000306087	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.8201	0.88648	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000305343:E123X	E	+	1	0	SOX14	138966683	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.515000	0.73751	2.449000	0.82847	0.511000	0.50034	GAG		0.706	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		18	18	1	0	4.75885e-15	0.00499	7.33932e-15	18	18				
CLDN18	51208	broad.mit.edu	37	3	137742562	137742562	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:137742562C>T	ENST00000183605.5	+	2	509	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	CLDN18_ENST00000343735.4_Silent_p.L95L	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	95					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(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CATTGGCCTCCTGGTATCCAT	0.547																																							uc003ero.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(283-285)CTG>TTG		claudin 18 isoform 2							137.0	106.0	116.0					3																	137742562		2203	4300	6503	SO:0001819	synonymous_variant	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137742562C>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.283C>T	3.37:g.137742562C>T						CLDN18_uc003erp.1_Silent_p.L95L|CLDN18_uc010hue.1_Missense_Mutation_p.P90L	p.L95L	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			2	336	+			95			Helical; (Potential).		A5PL21|Q96PH4	Silent	SNP	ENST00000183605.5	37	c.283C>T	CCDS3095.1																																																																																				0.547	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026		39	31	0	0	0	0.005524	0	39	31				
SLC9A9	285195	broad.mit.edu	37	3	142985726	142985726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:142985726C>A	ENST00000316549.6	-	16	1964	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	586					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGGCTAGTTCATCCTGGTTT	0.493																																							uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(1756-1758)GAA>TAA		solute carrier family 9 (sodium/hydrogen							132.0	125.0	128.0					3																	142985726		2203	4300	6503	SO:0001587	stop_gained	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985726C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1756G>T	3.37:g.142985726C>A	ENSP00000320246:p.Glu586*						p.E586*	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	1938	-			586					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.1756G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952177	0.97139	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	.	.	.	X	586	.	ENSP00000320246:E586X	E	-	1	0	SLC9A9	144468416	0.979000	0.34478	0.298000	0.25002	0.359000	0.29487	2.775000	0.47702	2.683000	0.91414	0.655000	0.94253	GAA		0.493	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		53	40	1	0	2.48254e-18	0.00361	4.1006e-18	53	40				
ZIC4	84107	broad.mit.edu	37	3	147108856	147108856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147108856C>A	ENST00000383075.3	-	4	1378	c.866G>T	c.(865-867)gGg>gTg	p.G289V	ZIC4_ENST00000525172.2_Missense_Mutation_p.G339V|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83V|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289V|ZIC4_ENST00000425731.3_Missense_Mutation_p.G327V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCGAGCGCCCGTGCACCTT	0.662																																							uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(865-867)GGG>GTG		zinc finger protein of the cerebellum 4							32.0	40.0	37.0					3																	147108856		2192	4293	6485	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108856C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.866G>T	3.37:g.147108856C>A	ENSP00000372553:p.Gly289Val					ZIC4_uc003ewc.1_Missense_Mutation_p.G219V|ZIC4_uc011bno.1_Missense_Mutation_p.G339V	p.G289V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1139	-			289					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.866G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033349	0.93575	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.34667	2.51;2.51;2.51;2.51;2.51;1.35	5.05	5.05	0.67936	Zinc finger, C2H2 (1);	0.171210	0.28659	N	0.014572	T	0.33614	0.0869	L	0.47716	1.5	0.39331	D	0.965420	B;P	0.39883	0.2;0.693	B;B	0.34779	0.127;0.189	T	0.45131	-0.9282	9	0.40728	T	0.16	.	18.4032	0.90525	0.0:1.0:0.0:0.0	.	339;289	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	289;327;339;289;289;83	ENSP00000372553:G289V;ENSP00000397695:G327V;ENSP00000435509:G339V;ENSP00000417855:G289V;ENSP00000420775:G289V;ENSP00000418277:G83V	ENSP00000372553:G289V	G	-	2	0	ZIC4	148591546	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.011000	0.57124	2.337000	0.79520	0.462000	0.41574	GGG		0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			36	26	1	0	2.32173e-10	0.004878	3.13184e-10	36	26				
ZIC1	7545	broad.mit.edu	37	3	147130396	147130396	+	Missense_Mutation	SNP	C	C	A	rs138369951		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147130396C>A	ENST00000282928.4	+	2	1803	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	358					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGAGCGACAAGCCCT	0.582																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1072-1074)AGC>AGA		zinc finger protein of the cerebellum 1							155.0	121.0	132.0					3																	147130396		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130396C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1074C>A	3.37:g.147130396C>A	ENSP00000282928:p.Ser358Arg						p.S358R	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1793	+			358					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1074C>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.33|18.33	3.599603|3.599603	0.66332|0.66332	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.28255	.|1.62	4.01|4.01	-2.14|-2.14	0.07123|0.07123	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.136657	.|0.50627	.|U	.|0.000108	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.11131|0.11131	0.1|0.1	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.52577	.|0.954	.|P	.|0.58172	.|0.834	T|T	0.25916|0.25916	-1.0118|-1.0118	5|10	.|0.87932	.|D	.|0	.|.	2.142|2.142	0.03777|0.03777	0.1252:0.4017:0.1233:0.3498|0.1252:0.4017:0.1233:0.3498	.|.	.|358	.|Q15915	.|ZIC1_HUMAN	E|R	47|358	.|ENSP00000282928:S358R	.|ENSP00000282928:S358R	A|S	+|+	2|3	0|2	ZIC1|ZIC1	148613086|148613086	0.081000|0.081000	0.21417|0.21417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	-0.746000|-0.746000	0.04829|0.04829	-0.088000|-0.088000	0.12506|0.12506	0.462000|0.462000	0.41574|0.41574	GCG|AGC		0.582	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		40	77	1	0	7.05121e-23	0.002522	1.25066e-22	40	77				
MME	4311	broad.mit.edu	37	3	154834294	154834294	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:154834294G>C	ENST00000460393.1	+	5	505	c.385G>C	c.(385-387)Gat>Cat	p.D129H	MME_ENST00000360490.2_Missense_Mutation_p.D129H|MME_ENST00000462745.1_Missense_Mutation_p.D129H|MME_ENST00000492661.1_Missense_Mutation_p.D129H|MME_ENST00000493237.1_Missense_Mutation_p.D129H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	129					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAAAACTGAAGATATAGTAGC	0.308																																							uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(385-387)GAT>CAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						91.0	87.0	88.0					3																	154834294		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834294G>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.385G>C	3.37:g.154834294G>C	ENSP00000418525:p.Asp129His					MME_uc003fab.1_Missense_Mutation_p.D129H|MME_uc003fac.1_Missense_Mutation_p.D129H|MME_uc003fad.1_Missense_Mutation_p.D129H|MME_uc003fae.1_Missense_Mutation_p.D129H	p.D129H	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		5	596	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	129			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.385G>C	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989951	0.74589	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000462837	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	6.17	6.17	0.99709	Peptidase M13 (1);	0.045107	0.85682	D	0.000000	T	0.81936	0.4928	M	0.62088	1.915	0.53005	D	0.999964	D	0.58620	0.983	P	0.53518	0.728	T	0.79914	-0.1602	10	0.45353	T	0.12	-37.4771	20.8794	0.99867	0.0:0.0:1.0:0.0	.	129	P08473	NEP_HUMAN	H	129	ENSP00000420389:D129H;ENSP00000418525:D129H;ENSP00000420101:D129H;ENSP00000419653:D129H;ENSP00000417079:D129H;ENSP00000353679:D129H;ENSP00000417595:D129H	ENSP00000353679:D129H	D	+	1	0	MME	156316988	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.047000	0.57383	2.941000	0.99782	0.655000	0.94253	GAT		0.308	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		32	38	0	0	0	0.006999	0	32	38				
SHOX2	6474	broad.mit.edu	37	3	157815970	157815970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:157815970G>T	ENST00000425436.3	-	5	867	c.842C>A	c.(841-843)cCc>cAc	p.P281H	SHOX2_ENST00000389589.4_Missense_Mutation_p.P305H|SHOX2_ENST00000441443.2_Missense_Mutation_p.P140H|SHOX2_ENST00000490689.2_Missense_Mutation_p.P140H|SHOX2_ENST00000483851.2_Missense_Mutation_p.P269H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	281					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGTCCGAAGGGCGGTGCTGG	0.711																																							uc003fbr.2		NA																	0					0						c.(841-843)CCC>CAC		short stature homeobox 2 isoform a							82.0	91.0	88.0					3																	157815970		2203	4297	6500	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815970G>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.842C>A	3.37:g.157815970G>T	ENSP00000398704:p.Pro281His					SHOX2_uc003fbs.2_Missense_Mutation_p.P305H|SHOX2_uc010hvw.2_Missense_Mutation_p.P269H	p.P281H	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	981	-			281					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.842C>A	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.531542|4.531542	0.85706|0.85706	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851|ENST00000555977	D;D;D;D;D|.	0.94576|.	-3.05;-3.46;-3.18;-3.46;-3.35|.	5.12|5.12	4.24|4.24	0.50183|0.50183	.|.	0.210024|0.210024	0.39759|0.39759	N|N	0.001276|0.001276	T|T	0.59238|0.59238	0.2179|0.2179	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.923;1.0;0.999|.	T|T	0.56238|0.56238	-0.8012|-0.8012	10|6	0.52906|.	T|.	0.07|.	.|.	12.7633|12.7633	0.57378|0.57378	0.0822:0.0:0.9178:0.0|0.0822:0.0:0.9178:0.0	.|.	269;305;281|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	H|T	305;140;281;140;140;269|172	ENSP00000398704:P305H;ENSP00000451888:P140H;ENSP00000374240:P281H;ENSP00000397099:P140H;ENSP00000419362:P269H|.	ENSP00000327294:P140H|.	P|P	-|-	2|1	0|0	SHOX2;AC112502.1|SHOX2	159298664|159298664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.095000|9.095000	0.94175|0.94175	1.267000|1.267000	0.44247|0.44247	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.711	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			71	54	1	0	2.32817e-41	0.00361	4.45255e-41	71	54				
PLD1	5337	broad.mit.edu	37	3	171451267	171451267	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:171451267T>C	ENST00000351298.4	-	6	699	c.573A>G	c.(571-573)ctA>ctG	p.L191L	PLD1_ENST00000356327.5_Silent_p.L191L|PLD1_ENST00000342215.6_Silent_p.L191L|PLD1_ENST00000340989.4_Silent_p.L191L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	191	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGGGCATTTTTAGTATCTTTG	0.279																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(571-573)CTA>CTG		phospholipase D1 isoform a	Choline(DB00122)						136.0	135.0	135.0					3																	171451267		2201	4298	6499	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171451267T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.573A>G	3.37:g.171451267T>C						PLD1_uc003fht.2_Silent_p.L191L	p.L191L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		6	689	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		191			PX.			Silent	SNP	ENST00000351298.4	37	c.573A>G	CCDS3216.1																																																																																				0.279	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		24	46	0	0	0	0.007291	0	24	46				
PIK3CA	5290	broad.mit.edu	37	3	178937410	178937410	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:178937410G>A	ENST00000263967.3	+	12	1955	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	600	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACAGGCTATGGAACTTCTGGA	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1798-1800)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							53.0	50.0	51.0					3																	178937410		1812	4065	5877	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937410G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1798G>A	3.37:g.178937410G>A	ENSP00000263967:p.Glu600Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E600K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		12	1955	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		600			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1798G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595217	0.96602	.	.	ENSG00000121879	ENST00000263967	T	0.70399	-0.48	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.84773	2.715	0.80722	D	1	P	0.48834	0.916	P	0.46825	0.528	D	0.83422	0.0033	10	0.72032	D	0.01	6.8752	20.4324	0.99085	0.0:0.0:1.0:0.0	.	600	P42336	PK3CA_HUMAN	K	600	ENSP00000263967:E600K	ENSP00000263967:E600K	E	+	1	0	PIK3CA	180420104	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	GAA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	27	0	0	0	0.004007	0	11	27				
AP2M1	1173	broad.mit.edu	37	3	183896904	183896904	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:183896904C>T	ENST00000292807.5	+	3	482	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.L137L|AP2M1_ENST00000439647.1_Silent_p.L112L|AP2M1_ENST00000382456.3_Silent_p.L112L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	112					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATATGAGCTGCTGGATGGTGA	0.547																																							uc011bqx.1		NA																	0					0						c.(334-336)CTG>TTG		adaptor-related protein complex 2, mu 1 subunit							86.0	89.0	88.0					3																	183896904		1991	4168	6159	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183896904C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.334C>T	3.37:g.183896904C>T						AP2M1_uc003fmw.2_Silent_p.L112L|AP2M1_uc003fmx.2_Silent_p.L112L|AP2M1_uc003fmy.2_Silent_p.L112L|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	p.L112L	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	491	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		112					A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.334C>T	CCDS43177.1																																																																																				0.547	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		84	41	0	0	0	0.00361	0	84	41				
EHHADH	1962	broad.mit.edu	37	3	184910364	184910364	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:184910364G>C	ENST00000231887.3	-	7	1897	c.1822C>G	c.(1822-1824)Cac>Gac	p.H608D	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.H512D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	608					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GGTTCAATGTGATGGGTTTTT	0.438																																							uc003fpf.2		NA																	0				ovary(3)	3						c.(1822-1824)CAC>GAC		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						116.0	108.0	110.0					3																	184910364		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910364G>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1822C>G	3.37:g.184910364G>C	ENSP00000231887:p.His608Asp					EHHADH_uc011brs.1_Missense_Mutation_p.H512D	p.H608D	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1849	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		608					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1822C>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	5.865	0.343703	0.11126	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.74209	-0.41;-0.82	5.91	4.09	0.47781	.	0.388403	0.30011	N	0.010632	T	0.60495	0.2273	N	0.24115	0.695	0.80722	D	1	B	0.17852	0.024	B	0.15484	0.013	T	0.56257	-0.8009	10	0.62326	D	0.03	-3.3006	10.6014	0.45369	0.0:0.1223:0.5001:0.3775	.	608	Q08426	ECHP_HUMAN	D	608;512	ENSP00000231887:H608D;ENSP00000387746:H512D	ENSP00000231887:H608D	H	-	1	0	EHHADH	186393058	0.035000	0.19736	0.743000	0.31040	0.623000	0.37688	0.693000	0.25497	0.801000	0.34066	0.655000	0.94253	CAC		0.438	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			14	145	0	0	0	0.00245	0	14	145				
EHHADH	1962	broad.mit.edu	37	3	184910516	184910516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:184910516C>A	ENST00000231887.3	-	7	1745	c.1670G>T	c.(1669-1671)aGg>aTg	p.R557M	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.R461M	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	557	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGGCAGTACCTCCTATTACC	0.488																																							uc003fpf.2		NA																	0				ovary(3)	3						c.(1669-1671)AGG>ATG		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						79.0	71.0	74.0					3																	184910516		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910516C>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1670G>T	3.37:g.184910516C>A	ENSP00000231887:p.Arg557Met					EHHADH_uc011brs.1_Missense_Mutation_p.R461M	p.R557M	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1697	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		557			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1670G>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556081	0.45487	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.90444	-2.67;-2.67	5.91	5.91	0.95273	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.090584	0.64402	D	0.000001	D	0.96207	0.8763	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95724	0.8769	10	0.56958	D	0.05	-23.9844	20.2985	0.98592	0.0:1.0:0.0:0.0	.	557	Q08426	ECHP_HUMAN	M	557;461	ENSP00000231887:R557M;ENSP00000387746:R461M	ENSP00000231887:R557M	R	-	2	0	EHHADH	186393210	1.000000	0.71417	0.910000	0.35882	0.133000	0.20885	5.632000	0.67819	2.793000	0.96121	0.655000	0.94253	AGG		0.488	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			62	35	1	0	2.66076e-39	0.00361	5.07515e-39	62	35				
HRG	3273	broad.mit.edu	37	3	186394987	186394987	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:186394987C>A	ENST00000232003.4	+	7	973	c.893C>A	c.(892-894)cCa>cAa	p.P298Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	298	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATGGACCCCCACCTCCTCCA	0.542																																							uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(892-894)CCA>CAA		histidine-rich glycoprotein precursor							208.0	168.0	182.0					3																	186394987		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394987C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.893C>A	3.37:g.186394987C>A	ENSP00000232003:p.Pro298Gln						p.P298Q	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	916	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		298			Pro-rich.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.893C>A	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667134	0.47677	.	.	ENSG00000113905	ENST00000232003	T	0.39229	1.09	3.71	1.84	0.25277	.	0.259238	0.27696	N	0.018222	T	0.44582	0.1300	M	0.66939	2.045	0.09310	N	1	D	0.58620	0.983	P	0.51016	0.656	T	0.30416	-0.9979	10	0.46703	T	0.11	-0.3243	5.2697	0.15618	0.0:0.6734:0.2084:0.1182	.	298	P04196	HRG_HUMAN	Q	298	ENSP00000232003:P298Q	ENSP00000232003:P298Q	P	+	2	0	HRG	187877681	0.049000	0.20398	0.275000	0.24674	0.065000	0.16274	0.625000	0.24477	0.364000	0.24374	0.555000	0.69702	CCA		0.542	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		20	110	1	0	3.10358e-05	0.002299	3.5547e-05	20	110				
BCL6	604	broad.mit.edu	37	3	187447752	187447752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:187447752C>G	ENST00000406870.2	-	5	807	c.441G>C	c.(439-441)cgG>cgC	p.R147R	BCL6_ENST00000232014.4_Silent_p.R147R|BCL6_ENST00000450123.2_Silent_p.R147R|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	147					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCATCAGCATCCGGCTGTTGA	0.547			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																		uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(439-441)CGG>CGC		B-cell lymphoma 6 protein isoform 1							58.0	59.0	59.0					3																	187447752		2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447752C>G		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.441G>C	3.37:g.187447752C>G						BCL6_uc011bsf.1_Silent_p.R147R|BCL6_uc010hza.2_Silent_p.R45R|BCL6_uc003frq.1_Silent_p.R147R	p.R147R	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	898	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		147					A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.441G>C	CCDS3289.1																																																																																				0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		7	119	0	0	0	0.00308	0	7	119				
BCL6	604	broad.mit.edu	37	3	187447769	187447769	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:187447769C>G	ENST00000406870.2	-	5	790	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	BCL6_ENST00000232014.4_Missense_Mutation_p.E142Q|BCL6_ENST00000450123.2_Missense_Mutation_p.E142Q|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	142					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTGAGGAACTCTTCACGAGGA	0.527			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																		uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(424-426)GAG>CAG		B-cell lymphoma 6 protein isoform 1							50.0	52.0	51.0					3																	187447769		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447769C>G		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.424G>C	3.37:g.187447769C>G	ENSP00000384371:p.Glu142Gln					BCL6_uc011bsf.1_Missense_Mutation_p.E142Q|BCL6_uc010hza.2_Missense_Mutation_p.E40Q|BCL6_uc003frq.1_Missense_Mutation_p.E142Q	p.E142Q	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	881	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		142					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.424G>C	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036958	0.54896	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08984	3.04;3.04;3.03	5.46	5.46	0.80206	.	0.363429	0.34223	N	0.004154	T	0.13927	0.0337	L	0.58101	1.795	0.80722	D	1	B;P	0.39665	0.083;0.682	B;B	0.38985	0.14;0.287	T	0.00738	-1.1587	10	0.87932	D	0	.	18.7414	0.91774	0.0:1.0:0.0:0.0	.	142;142	B8PSA7;P41182	.;BCL6_HUMAN	Q	142	ENSP00000384371:E142Q;ENSP00000232014:E142Q;ENSP00000413122:E142Q	ENSP00000232014:E142Q	E	-	1	0	BCL6	188930463	1.000000	0.71417	0.897000	0.35233	0.458000	0.32498	7.431000	0.80335	2.753000	0.94483	0.650000	0.86243	GAG		0.527	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		7	115	0	0	0	0.001984	0	7	115				
MFSD7	84179	broad.mit.edu	37	4	675791	675791	+	Missense_Mutation	SNP	C	C	A	rs143423821		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:675791C>A	ENST00000404286.2	-	10	1654	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	MFSD7_ENST00000515118.1_Missense_Mutation_p.A450S|MFSD7_ENST00000503156.1_3'UTR|MYL5_ENST00000506838.1_3'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.A546S|MYL5_ENST00000400159.2_3'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.A428S|MYL5_ENST00000511290.1_3'UTR|MYL5_ENST00000505477.1_3'UTR	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	547					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TGAGACCCAGCCGGGTCAATA	0.662																																							uc003gay.2		NA																	0					0						c.(1639-1641)GCT>TCT		major facilitator superfamily domain containing							41.0	41.0	41.0					4																	675791		2198	4296	6494	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:675791C>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1639G>T	4.37:g.675791C>A	ENSP00000384616:p.Ala547Ser					MYL5_uc003gat.2_RNA|MYL5_uc003gau.2_RNA|MYL5_uc003gav.2_3'UTR|MFSD7_uc003gaw.2_Missense_Mutation_p.A289S|MFSD7_uc003gax.2_Missense_Mutation_p.A546S|MFSD7_uc003gaz.2_Missense_Mutation_p.A428S|MFSD7_uc003gba.2_Missense_Mutation_p.A450S|MFSD7_uc003gbb.1_3'UTR	p.A547S	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			10	1696	-			547					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1639G>T		.	.	.	.	.	.	.	.	.	.	C	6.762	0.509516	0.12883	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.96041	-3.59;-3.04;-3.04;-3.89	2.9	0.962	0.19643	.	.	.	.	.	D	0.86280	0.5895	N	0.08118	0	0.18873	N	0.999986	B;B;B;B	0.25312	0.123;0.123;0.075;0.123	B;B;B;B	0.16289	0.015;0.015;0.007;0.015	T	0.78160	-0.2312	9	0.87932	D	0	.	3.5255	0.07757	0.2445:0.6145:0.0:0.141	.	450;428;547;546	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	S	428;546;547;450	ENSP00000307545:A428S;ENSP00000320234:A546S;ENSP00000384616:A547S;ENSP00000423204:A450S	ENSP00000320234:A546S	A	-	1	0	MFSD7	665791	0.004000	0.15560	0.002000	0.10522	0.013000	0.08279	1.211000	0.32382	0.223000	0.20920	0.644000	0.83932	GCT		0.662	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		6	13	1	0	2.7689e-08	0.001984	3.53028e-08	6	13				
DRD5	1816	broad.mit.edu	37	4	9783849	9783849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9783849G>T	ENST00000304374.2	+	1	592	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	66					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGCAGCCATCGTGCGGAGCCG	0.652																																							uc003gmb.3		NA																	0				skin(1)	1						c.(196-198)GTG>TTG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						32.0	26.0	28.0					4																	9783849		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783849G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.196G>T	4.37:g.9783849G>T	ENSP00000306129:p.Val66Leu						p.V66L	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	592	+			66			Helical; Name=1; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.196G>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	7.350	0.622669	0.14193	.	.	ENSG00000169676	ENST00000304374	T	0.34472	1.36	4.01	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.579746	0.17224	N	0.182203	T	0.12732	0.0309	N	0.02985	-0.445	0.37371	D	0.91162	B	0.10296	0.003	B	0.09377	0.004	T	0.14144	-1.0483	10	0.10636	T	0.68	.	7.4308	0.27126	0.3114:0.0:0.6886:0.0	.	66	P21918	DRD5_HUMAN	L	66	ENSP00000306129:V66L	ENSP00000306129:V66L	V	+	1	0	DRD5	9392947	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.086000	0.30853	0.875000	0.35847	0.305000	0.20034	GTG		0.652	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	16	1	0	0.00307968	0.00308	0.003275	8	16				
DRD5	1816	broad.mit.edu	37	4	9783943	9783943	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9783943G>T	ENST00000304374.2	+	1	686	c.290G>T	c.(289-291)tGg>tTg	p.W97L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	97					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTCATGCCCTGGAAGGCAGTC	0.627																																							uc003gmb.3		NA																	0				skin(1)	1						c.(289-291)TGG>TTG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						54.0	50.0	52.0					4																	9783943		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783943G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.290G>T	4.37:g.9783943G>T	ENSP00000306129:p.Trp97Leu						p.W97L	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	686	+			97			Helical; Name=2; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.290G>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.962215	0.74016	.	.	ENSG00000169676	ENST00000304374	T	0.71579	-0.58	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	L	0.31371	0.925	0.80722	D	1	B	0.30482	0.281	B	0.31869	0.137	T	0.65717	-0.6100	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	97	P21918	DRD5_HUMAN	L	97	ENSP00000306129:W97L	ENSP00000306129:W97L	W	+	2	0	DRD5	9393041	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	TGG		0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			14	36	1	0	6.31663e-08	0.003163	7.96204e-08	14	36				
DRD5	1816	broad.mit.edu	37	4	9784087	9784087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9784087C>A	ENST00000304374.2	+	1	830	c.434C>A	c.(433-435)cCc>cAc	p.P145H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	145					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCTCCAGGCCCTTCCGCTAC	0.597																																							uc003gmb.3		NA																	0				skin(1)	1						c.(433-435)CCC>CAC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						39.0	37.0	38.0					4																	9784087		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784087C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.434C>A	4.37:g.9784087C>A	ENSP00000306129:p.Pro145His						p.P145H	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	830	+			145			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.434C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.940749	0.73557	.	.	ENSG00000169676	ENST00000304374	T	0.61510	0.1	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87324	0.2320	10	0.87932	D	0	.	16.0501	0.80755	0.0:1.0:0.0:0.0	.	145	P21918	DRD5_HUMAN	H	145	ENSP00000306129:P145H	ENSP00000306129:P145H	P	+	2	0	DRD5	9393185	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.297000	0.78799	2.248000	0.74166	0.305000	0.20034	CCC		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			9	17	1	0	1.12685e-05	0.004482	1.30516e-05	9	17				
CC2D2A	57545	broad.mit.edu	37	4	15581639	15581639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:15581639C>T	ENST00000503292.1	+	31	4000	c.3820C>T	c.(3820-3822)Caa>Taa	p.Q1274*	CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.Q1166*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.Q1274*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.Q1274*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1274					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGAGAAGTTTCAAGCTGAATG	0.343																																							uc010idv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(3820-3822)CAA>TAA		coiled-coil and C2 domain containing 2A isoform							121.0	117.0	119.0					4																	15581639		1851	4098	5949	SO:0001587	stop_gained	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15581639C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3820C>T	4.37:g.15581639C>T	ENSP00000421809:p.Gln1274*					CC2D2A_uc003gnx.2_Nonsense_Mutation_p.Q1166*|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.Q1274*	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			31	4065	+			1274					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	ENST00000503292.1	37	c.3820C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.388787	0.97529	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.16	5.16	0.70880	.	0.266810	0.36066	N	0.002809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.301	0.73952	0.0:0.8499:0.1501:0.0	.	.	.	.	X	1274;1274;1166;1166;1274;1166	.	ENSP00000374303:Q1166X	Q	+	1	0	CC2D2A	15190737	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.411000	0.81874	0.650000	0.86243	CAA		0.343	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		7	74	0	0	0	0.006214	0	7	74				
STIM2	57620	broad.mit.edu	37	4	27019334	27019334	+	Splice_Site	SNP	G	G	T	rs140282649		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:27019334G>T	ENST00000467011.1	+	11	1916	c.1491G>T	c.(1489-1491)ggG>ggT	p.G497G	STIM2_ENST00000382009.3_Splice_Site_p.G592G|STIM2_ENST00000467087.1_Splice_Site_p.G497G|STIM2_ENST00000237364.5_Splice_Site_p.G584G|STIM2_ENST00000412829.2_Splice_Site_p.G584G|STIM2_ENST00000465503.1_Splice_Site_p.G505G	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTTTTTCAGGGACCATGGCTA	0.507																																							uc003gsh.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1774-1776)GGG>GGT		stromal interaction molecule 2		G	,,	0,4406		0,0,2203	154.0	158.0	157.0		1491,1515,1491	5.9	1.0	4	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	STIM2	NM_001169117.1,NM_001169118.1,NM_020860.3	,,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,,	497/600,505/755,497/747	27019334	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019334G>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1490-1G>T	4.37:g.27019334G>T						STIM2_uc003gsg.3_Silent_p.G584G|STIM2_uc010iex.2_Silent_p.G584G|STIM2_uc010iey.2_Silent_p.G208G	p.G592G	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			12	1992	+		Breast(46;0.0503)	497			Cytoplasmic (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467011.1	37	c.1776G>T	CCDS54752.1																																																																																				0.507	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	Silent	27	85	1	0	0.000117367	0.005443	0.000130892	27	85				
PCDH7	5099	broad.mit.edu	37	4	30725755	30725755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:30725755G>T	ENST00000361762.2	+	1	3719	c.2711G>T	c.(2710-2712)tGc>tTc	p.C904F	PCDH7_ENST00000543491.1_Missense_Mutation_p.C904F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	904					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAAGGTACTGCAGGTCCAAA	0.388																																							uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2710-2712)TGC>TTC		protocadherin 7 isoform a precursor							99.0	98.0	98.0					4																	30725755		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725755G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2711G>T	4.37:g.30725755G>T	ENSP00000355243:p.Cys904Phe					PCDH7_uc011bxw.1_Missense_Mutation_p.C857F|PCDH7_uc011bxx.1_Missense_Mutation_p.C904F	p.C904F	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3719	+			904			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2711G>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090684	0.55968	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.39406	1.08;1.08	5.16	5.16	0.70880	Protocadherin (1);	.	.	.	.	T	0.66015	0.2747	M	0.77486	2.375	0.80722	D	1	D;D;D	0.67145	0.991;0.991;0.996	P;P;D	0.65684	0.897;0.897;0.937	T	0.70128	-0.4957	9	0.87932	D	0	.	18.8391	0.92174	0.0:0.0:1.0:0.0	.	904;857;904	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	F	904;904;857	ENSP00000355243:C904F;ENSP00000441802:C904F	ENSP00000330302:C857F	C	+	2	0	PCDH7	30334853	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.657000	0.98554	2.683000	0.91414	0.655000	0.94253	TGC		0.388	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		22	250	1	0	1.22574e-08	0.002299	1.58379e-08	22	250				
ATP10D	57205	broad.mit.edu	37	4	47517562	47517562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:47517562G>T	ENST00000273859.3	+	3	629	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ATP10D_ENST00000504445.1_Missense_Mutation_p.K120N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	120					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTTCCAAAAGGAAATCACCA	0.413																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(358-360)AAG>AAT		ATPase, class V, type 10D							159.0	151.0	154.0					4																	47517562		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47517562G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.360G>T	4.37:g.47517562G>T	ENSP00000273859:p.Lys120Asn					ATP10D_uc003gxj.3_Missense_Mutation_p.K120N	p.K120N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			3	524	+			120			Extracellular (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.360G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733821	0.69189	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.87729	-2.29;-2.29	5.38	4.34	0.51931	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.80183	2.485	0.47308	D	0.99938	D;D	0.67145	0.992;0.996	D;D	0.70487	0.923;0.969	D	0.92054	0.5651	10	0.56958	D	0.05	-23.8623	10.5621	0.45152	0.1389:0.0:0.8611:0.0	.	120;120	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	120	ENSP00000273859:K120N;ENSP00000420909:K120N	ENSP00000273859:K120N	K	+	3	2	ATP10D	47212319	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.527000	0.35975	2.513000	0.84729	0.655000	0.94253	AAG		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		23	64	1	0	5.35356e-11	0.00278	7.35923e-11	23	64				
KIAA1211	57482	broad.mit.edu	37	4	57181941	57181941	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:57181941C>G	ENST00000504228.1	+	6	2378	c.2273C>G	c.(2272-2274)gCc>gGc	p.A758G	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A758G|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A751G			Q6ZU35	K1211_HUMAN	KIAA1211	758										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACAGCCCCCCAGCCT	0.592																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2272-2274)GCC>GGC		hypothetical protein LOC57482							51.0	65.0	61.0					4																	57181941		1950	4137	6087	SO:0001583	missense	57482							g.chr4:57181941C>G	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2273C>G	4.37:g.57181941C>G	ENSP00000423366:p.Ala758Gly					KIAA1211_uc010iha.2_Missense_Mutation_p.A751G|KIAA1211_uc011bzz.1_Missense_Mutation_p.A668G|KIAA1211_uc003hbm.1_Missense_Mutation_p.A644G	p.A758G	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2664	+	Glioma(25;0.08)|all_neural(26;0.101)		758					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2273C>G	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	8.250	0.808898	0.16467	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13307	2.61;2.61;2.6	4.59	1.54	0.23209	.	.	.	.	.	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.025;0.004	B;B;B	0.17979	0.02;0.02;0.004	T	0.38950	-0.9637	9	0.36615	T	0.2	-2.9823	0.5517	0.00664	0.3948:0.2322:0.1216:0.2514	.	751;751;758	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	G	758;758;751;668	ENSP00000264229:A758G;ENSP00000423366:A758G;ENSP00000444006:A751G	ENSP00000264229:A758G	A	+	2	0	KIAA1211	56876698	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.245000	0.08890	0.132000	0.18615	0.561000	0.74099	GCC		0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		17	17	0	0	0	0.004007	0	17	17				
TECRL	253017	broad.mit.edu	37	4	65146797	65146797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65146797G>T	ENST00000381210.3	-	11	1036	c.926C>A	c.(925-927)tCa>tAa	p.S309*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.S309*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	309					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.S309*(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTAATCCATGATCCAATCTG	0.284																																							uc003hcv.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(925-927)TCA>TAA		steroid 5 alpha-reductase 2-like 2							107.0	92.0	97.0					4																	65146797		2202	4294	6496	SO:0001587	stop_gained	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65146797G>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.926C>A	4.37:g.65146797G>T	ENSP00000370607:p.Ser309*					TECRL_uc010ihi.2_Intron	p.S309*	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			11	1035	-			309						Nonsense_Mutation	SNP	ENST00000381210.3	37	c.926C>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573404	0.97676	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	.	.	.	4.92	4.92	0.64577	.	0.153338	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0806	13.9695	0.64230	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000370607:S309X	S	-	2	0	TECRL	64829392	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	6.482000	0.73613	2.424000	0.82194	0.650000	0.86243	TCA		0.284	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		12	50	1	0	0.000219431	0.00245	0.000243213	12	50				
TECRL	253017	broad.mit.edu	37	4	65275040	65275040	+	Silent	SNP	C	C	T	rs370384281		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65275040C>T	ENST00000381210.3	-	1	140	c.30G>A	c.(28-30)tcG>tcA	p.S10S	TECRL_ENST00000507440.1_Silent_p.S10S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	10					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTGCGTTCCGAAGCGAGGG	0.413																																							uc003hcv.2		NA																	0					0						c.(28-30)TCG>TCA		steroid 5 alpha-reductase 2-like 2		C		0,4406		0,0,2203	122.0	123.0	123.0		30	-3.9	1.0	4		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TECRL	NM_001010874.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		10/364	65275040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65275040C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.30G>A	4.37:g.65275040C>T						TECRL_uc003hcw.2_Silent_p.S10S	p.S10S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	139	-			10						Silent	SNP	ENST00000381210.3	37	c.30G>A	CCDS33990.1																																																																																				0.413	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		27	61	0	0	0	0.009535	0	27	61				
TECRL	253017	broad.mit.edu	37	4	65275046	65275046	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65275046G>T	ENST00000381210.3	-	1	134	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TECRL_ENST00000507440.1_Silent_p.L8L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	8					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTCCGAAGCGAGGGACTTGT	0.393																																							uc003hcv.2		NA																	0					0						c.(22-24)CTC>CTA		steroid 5 alpha-reductase 2-like 2							117.0	117.0	117.0					4																	65275046		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65275046G>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.24C>A	4.37:g.65275046G>T						TECRL_uc003hcw.2_Silent_p.L8L	p.L8L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	133	-			8						Silent	SNP	ENST00000381210.3	37	c.24C>A	CCDS33990.1																																																																																				0.393	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		26	63	1	0	1.5548e-18	0.005443	2.57113e-18	26	63				
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:68504713C>A	ENST00000322244.5	-	19	1743	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333																																							uc003hdg.3		NA																	0					0						c.(1684-1686)GAT>TAT		ubiquitin-activating enzyme E1-like 2							170.0	158.0	163.0					4																	68504713		2203	4298	6501	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68504713C>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1684G>T	4.37:g.68504713C>A	ENSP00000313454:p.Asp562Tyr					UBA6_uc003hdh.1_Missense_Mutation_p.D88Y	p.D562Y	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			19	1736	-			562					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1684G>T	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.260859|3.260859	0.59431|0.59431	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.78246|.	-1.16|.	5.63|5.63	5.63|5.63	0.86233|0.86233	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.093650|.	0.64402|.	D|.	0.000001|.	D|D	0.88433|0.88433	0.6435|0.6435	H|H	0.96518|0.96518	3.835|3.835	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	D|.	0.65684|.	0.937|.	D|D	0.91576|0.91576	0.5275|0.5275	10|5	0.87932|.	D|.	0|.	-6.5632|-6.5632	19.6768|19.6768	0.95939|0.95939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	562|.	A0AVT1|.	UBA6_HUMAN|.	Y|N	562|95	ENSP00000313454:D562Y|.	ENSP00000313454:D562Y|.	D|K	-|-	1|3	0|2	UBA6|UBA6	68187308|68187308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.459000|0.459000	0.32528|0.32528	4.136000|4.136000	0.58004|0.58004	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GAT|AAG		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		27	50	1	0	9.80776e-20	0.00632	1.65801e-19	27	50				
TMPRSS11F	389208	broad.mit.edu	37	4	68919700	68919700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:68919700A>C	ENST00000356291.2	-	10	1303	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	415	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTTTTGGGAAGTGCACATGA	0.403																																							uc003hdt.1		NA																	0				ovary(1)	1						c.(1243-1245)CTT>CGT		transmembrane protease, serine 11F							204.0	182.0	189.0					4																	68919700		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68919700A>C	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1244T>G	4.37:g.68919700A>C	ENSP00000348639:p.Leu415Arg					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.L415R	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			10	1293	-			415			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.1244T>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641848	0.29157	.	.	ENSG00000198092	ENST00000356291	D	0.88124	-2.34	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47093	D	0.000259	T	0.77685	0.4167	N	0.02181	-0.65	0.37568	D	0.919335	P	0.51449	0.945	P	0.59487	0.858	T	0.76664	-0.2876	10	0.07175	T	0.84	.	10.1836	0.42984	0.8329:0.1671:0.0:0.0	.	415	Q6ZWK6	TM11F_HUMAN	R	415	ENSP00000348639:L415R	ENSP00000348639:L415R	L	-	2	0	TMPRSS11F	68602295	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	2.334000	0.43920	2.219000	0.72066	0.460000	0.39030	CTT		0.403	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		13	70	0	0	0	0.00245	0	13	70				
GRSF1	2926	broad.mit.edu	37	4	71698153	71698153	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:71698153T>A	ENST00000254799.6	-	4	802	c.685A>T	c.(685-687)Aat>Tat	p.N229Y	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000502323.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000545193.1_Missense_Mutation_p.N111Y	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	229	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)			ACATCTTCATTGTTTATCTCA	0.368																																							uc010iia.1		NA																	0					0						c.(685-687)AAT>TAT		G-rich RNA sequence binding factor 1 isoform 1							94.0	88.0	90.0					4																	71698153		1852	4098	5950	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71698153T>A	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.685A>T	4.37:g.71698153T>A	ENSP00000254799:p.Asn229Tyr					GRSF1_uc011caz.1_Missense_Mutation_p.N111Y|GRSF1_uc003hfs.2_Missense_Mutation_p.N67Y	p.N229Y	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		4	768	-		all_hematologic(202;0.21)	229			RRM 1.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.685A>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649994	0.67472	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.87	5.87	0.94306	RNA recognition motif domain (1);	0.273612	0.45606	D	0.000356	T	0.50497	0.1619	M	0.67397	2.05	0.31506	N	0.664212	D;D	0.76494	0.999;0.994	D;P	0.66716	0.946;0.716	T	0.62110	-0.6923	10	0.72032	D	0.01	.	10.8837	0.46955	0.0:0.0786:0.0:0.9214	.	142;229	B7Z5F9;Q12849	.;GRSF1_HUMAN	Y	229;67;161;202;67;111	ENSP00000254799:N229Y;ENSP00000389219:N67Y;ENSP00000427354:N202Y;ENSP00000425430:N67Y;ENSP00000443380:N111Y	ENSP00000254799:N229Y	N	-	1	0	GRSF1	71917017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.237000	0.73441	0.533000	0.62120	AAT		0.368	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		3	24	0	0	0	0.004672	0	3	24				
NAA11	84779	broad.mit.edu	37	4	80246951	80246951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:80246951C>A	ENST00000286794.4	-	1	253	c.81G>T	c.(79-81)caG>caT	p.Q27H	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	27	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGTATTTCATCTGGTAGTTCT	0.488																																							uc003hlt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(79-81)CAG>CAT		alpha-N-acetyltransferase 1B							101.0	101.0	101.0					4																	80246951		2190	4299	6489	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246951C>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.81G>T	4.37:g.80246951C>A	ENSP00000286794:p.Gln27His						p.Q27H	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	221	-			27			Interaction with NAA15 (By similarity).|N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.81G>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663712	0.29515	.	.	ENSG00000156269	ENST00000286794	T	0.33216	1.42	5.04	5.04	0.67666	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.36635	0.0974	M	0.76328	2.33	0.80722	D	1	B	0.32409	0.37	B	0.32762	0.152	T	0.15150	-1.0447	9	.	.	.	-22.4204	16.2992	0.82801	0.0:1.0:0.0:0.0	.	27	Q9BSU3	NAA11_HUMAN	H	27	ENSP00000286794:Q27H	.	Q	-	3	2	NAA11	80465975	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.193000	0.50997	2.793000	0.96121	0.563000	0.77884	CAG		0.488	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			29	27	1	0	6.07407e-21	0.007291	1.04896e-20	29	27				
PKD2	5311	broad.mit.edu	37	4	88983142	88983142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:88983142G>T	ENST00000508588.1	+	5	753	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	PKD2_ENST00000502363.1_Missense_Mutation_p.D120Y|PKD2_ENST00000237596.2_Missense_Mutation_p.D702Y|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGAACTCTCAGATCTTATCAG	0.333																																							uc003hre.2		NA																	0				skin(1)	1						c.(2104-2106)GAT>TAT		polycystin 2							86.0	90.0	89.0					4																	88983142		2203	4299	6502	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88983142G>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.358G>T	4.37:g.88983142G>T	ENSP00000427131:p.Asp120Tyr					PKD2_uc011cdf.1_Missense_Mutation_p.D120Y|PKD2_uc011cdg.1_Missense_Mutation_p.D28Y|PKD2_uc011cdh.1_5'UTR	p.D702Y	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	10	2170	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	702			Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2104G>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513553	0.85389	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.55588	0.51;0.51;0.51	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	T	0.76416	-0.2967	10	0.87932	D	0	-24.0616	19.7221	0.96147	0.0:0.0:1.0:0.0	.	702	Q13563	PKD2_HUMAN	Y	702;120;120	ENSP00000237596:D702Y;ENSP00000427131:D120Y;ENSP00000425289:D120Y	ENSP00000237596:D702Y	D	+	1	0	PKD2	89202166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.622000	0.98378	2.657000	0.90304	0.650000	0.86243	GAT		0.333	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		40	15	1	0	2.00842e-17	0.002522	3.25775e-17	40	15				
GPRIN3	285513	broad.mit.edu	37	4	90169436	90169436	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:90169436G>A	ENST00000609438.1	-	2	2344	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S609F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	609										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CATGGGATCAGATGGCAGGCT	0.582																																							uc003hsm.1		NA																	0				ovary(3)	3						c.(1825-1827)TCT>TTT		G protein-regulated inducer of neurite outgrowth							92.0	94.0	93.0					4																	90169436		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169436G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1826C>T	4.37:g.90169436G>A	ENSP00000476603:p.Ser609Phe						p.S609F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2345	-		Hepatocellular(203;0.114)	609					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1826C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275408	0.59649	.	.	ENSG00000185477	ENST00000333209	T	0.13196	2.61	5.64	3.85	0.44370	.	0.270973	0.19857	N	0.104515	T	0.15869	0.0382	L	0.27053	0.805	0.09310	N	1	D	0.54964	0.969	P	0.54100	0.742	T	0.03957	-1.0989	10	0.72032	D	0.01	-2.715	8.0878	0.30782	0.1133:0.2674:0.6193:0.0	.	609	Q6ZVF9	GRIN3_HUMAN	F	609	ENSP00000328672:S609F	ENSP00000328672:S609F	S	-	2	0	GPRIN3	90388459	0.002000	0.14202	0.009000	0.14445	0.139000	0.21198	1.170000	0.31883	1.365000	0.46057	0.655000	0.94253	TCT		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		26	58	0	0	0	0.009535	0	26	58				
ANK2	287	broad.mit.edu	37	4	114171000	114171000	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114171000C>T	ENST00000357077.4	+	10	1025	c.972C>T	c.(970-972)ccC>ccT	p.P324P	ANK2_ENST00000506722.1_Silent_p.P303P|ANK2_ENST00000264366.6_Silent_p.P324P|ANK2_ENST00000394537.3_Silent_p.P324P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	324					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGGGTGCCCCCTTGCTGGCAA	0.423																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(970-972)CCC>CCT		ankyrin 2 isoform 1							95.0	88.0	90.0					4																	114171000		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114171000C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.972C>T	4.37:g.114171000C>T						ANK2_uc003ibd.3_Silent_p.P303P|ANK2_uc003ibf.3_Silent_p.P324P|ANK2_uc003ibc.2_Silent_p.P300P|ANK2_uc011cgb.1_Silent_p.P339P	p.P324P	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	10	1072	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	324			ANK 9.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.972C>T	CCDS3702.1																																																																																				0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	9	0	0	0	0.004482	0	8	9				
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114286205C>A	ENST00000357077.4	+	41	10952	c.10899C>A	c.(10897-10899)ctC>ctA	p.L3633L	ANK2_ENST00000506722.1_Silent_p.L1539L|ANK2_ENST00000264366.6_Silent_p.L3600L|ANK2_ENST00000509550.1_Silent_p.L724L|ANK2_ENST00000510275.2_Silent_p.L200L|ANK2_ENST00000394537.3_Silent_p.L1548L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3633	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACCAACCTCGTTGAATGTC	0.388																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10897-10899)CTC>CTA		ankyrin 2 isoform 1							131.0	123.0	125.0					4																	114286205		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114286205C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10899C>A	4.37:g.114286205C>A						ANK2_uc003ibd.3_Silent_p.L1539L|ANK2_uc003ibf.3_Silent_p.L1548L|ANK2_uc011cgc.1_Silent_p.L724L|ANK2_uc003ibg.3_Silent_p.L532L|ANK2_uc003ibh.3_Silent_p.L222L|ANK2_uc011cgd.1_Silent_p.L935L	p.L3633L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	41	10999	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3600			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.10899C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	5.949	0.359162	0.11239	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.41	4.53	0.55603	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45411	-0.9263	4	.	.	.	.	2.6842	0.05103	0.1472:0.5385:0.143:0.1714	.	.	.	.	S	550	.	.	R	+	1	0	ANK2	114505654	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	0.879000	0.28146	1.188000	0.43014	0.561000	0.74099	CGT		0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	53	1	0	1.77063e-15	0.005443	2.75432e-15	22	53				
CAMK2D	817	broad.mit.edu	37	4	114680554	114680554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114680554C>A	ENST00000342666.5	-	2	81	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L	CAMK2D_ENST00000418639.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000379773.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000511664.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000505990.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000296402.5_Missense_Mutation_p.V28L|CAMK2D_ENST00000454265.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000429180.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000394526.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000514328.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000394522.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000394524.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000508738.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000515496.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000509907.1_5'UTR			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATCTTCTCACCACTGAGAAT	0.328																																							uc003ibi.2		NA																	0				ovary(1)	1						c.(82-84)GTG>TTG		calcium/calmodulin-dependent protein kinase II							98.0	98.0	98.0					4																	114680554		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114680554C>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.82G>T	4.37:g.114680554C>A	ENSP00000339740:p.Val28Leu					CAMK2D_uc003ibj.2_Missense_Mutation_p.V28L|CAMK2D_uc003ibk.2_Missense_Mutation_p.V28L|CAMK2D_uc003ibo.3_Missense_Mutation_p.V28L|CAMK2D_uc003ibm.2_Missense_Mutation_p.V28L|CAMK2D_uc003ibn.2_Missense_Mutation_p.V28L|CAMK2D_uc003ibl.2_Missense_Mutation_p.V28L	p.V28L	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	2	941	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	28			ATP (By similarity).|Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.82G>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626592	0.87560	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	U	0.000028	D	0.83788	0.5330	H	0.94503	3.545	0.80722	D	1	D;D;D;D;D	0.59357	0.985;0.982;0.982;0.966;0.973	D;D;D;D;D	0.77004	0.989;0.974;0.974;0.974;0.985	D	0.87449	0.2400	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	28;28;28;28;28	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	L	28	ENSP00000378032:V28L;ENSP00000415248:V28L;ENSP00000415707:V28L;ENSP00000406131:V28L;ENSP00000378034:V28L;ENSP00000296402:V28L;ENSP00000425824:V28L;ENSP00000339740:V28L;ENSP00000423482:V28L;ENSP00000423677:V28L;ENSP00000378030:V28L;ENSP00000424245:V28L;ENSP00000369098:V28L;ENSP00000422566:V28L	ENSP00000296402:V28L	V	-	1	0	CAMK2D	114900003	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.381000	0.79718	2.762000	0.94881	0.467000	0.42956	GTG		0.328	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			36	76	1	0	1.47197e-15	0.007835	2.29468e-15	36	76				
NDST4	64579	broad.mit.edu	37	4	115856447	115856447	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:115856447A>G	ENST00000264363.2	-	6	2129	c.1451T>C	c.(1450-1452)tTc>tCc	p.F484S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	484	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTTTGTAGAAAATAGTGTG	0.403																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1450-1452)TTC>TCC		heparan sulfate N-deacetylase/N-sulfotransferase							152.0	153.0	153.0					4																	115856447		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856447A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1451T>C	4.37:g.115856447A>G	ENSP00000264363:p.Phe484Ser					NDST4_uc010imw.2_RNA	p.F484S	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2130	-		Ovarian(17;0.156)	484			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1451T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371600	0.82573	.	.	ENSG00000138653	ENST00000264363	T	0.37584	1.19	5.12	5.12	0.69794	.	0.048851	0.85682	D	0.000000	T	0.63721	0.2535	M	0.88570	2.965	0.54753	D	0.999989	P	0.48764	0.915	P	0.60473	0.875	T	0.71642	-0.4531	10	0.72032	D	0.01	.	14.9199	0.70829	1.0:0.0:0.0:0.0	.	484	Q9H3R1	NDST4_HUMAN	S	484	ENSP00000264363:F484S	ENSP00000264363:F484S	F	-	2	0	NDST4	116075896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.183000	0.58317	1.912000	0.55364	0.482000	0.46254	TTC		0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		12	26	0	0	0	0.001368	0	12	26				
PRDM5	11107	broad.mit.edu	37	4	121675745	121675745	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:121675745T>C	ENST00000264808.3	-	14	1826	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.N498S|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	529					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGTCCATCATTTTTACTGAA	0.348																																							uc003idn.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1585-1587)AAT>AGT		PR domain containing 5							124.0	110.0	115.0					4																	121675745		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121675745T>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1586A>G	4.37:g.121675745T>C	ENSP00000264808:p.Asn529Ser					PRDM5_uc003ido.2_Missense_Mutation_p.N498S|PRDM5_uc010ine.2_Intron	p.N529S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			14	1836	-			529			C2H2-type 13.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1586A>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289106	0.23478	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.07216	3.21;3.21	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.02193	0.0068	N	0.00300	-1.685	0.80722	D	1	B;B	0.26363	0.029;0.147	B;B	0.25614	0.02;0.062	T	0.44003	-0.9356	10	0.02654	T	1	-23.2058	15.1881	0.73020	0.0:0.0:0.0:1.0	.	498;529	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	S	529;498	ENSP00000264808:N529S;ENSP00000404832:N498S	ENSP00000264808:N529S	N	-	2	0	PRDM5	121895195	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.933000	0.75874	2.226000	0.72624	0.482000	0.46254	AAT		0.348	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			11	26	0	0	0	0.001855	0	11	26				
PCDH10	57575	broad.mit.edu	37	4	134084222	134084222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:134084222G>C	ENST00000264360.5	+	4	3714	c.2888G>C	c.(2887-2889)gGa>gCa	p.G963A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	963					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTCTGATGGACGCCAGGCT	0.522																																							uc003iha.2		NA																	0				ovary(2)	2						c.(2887-2889)GGA>GCA		protocadherin 10 isoform 1 precursor							166.0	140.0	149.0					4																	134084222		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084222G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2888G>C	4.37:g.134084222G>C	ENSP00000264360:p.Gly963Ala						p.G963A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3714	+			963			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2888G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738888	0.30774	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.49720	0.77	5.24	5.24	0.73138	.	0.000000	0.38778	N	0.001580	T	0.29321	0.0730	N	0.11201	0.11	0.58432	D	0.999999	B	0.21606	0.058	B	0.14578	0.011	T	0.12656	-1.0539	10	0.09843	T	0.71	.	18.6158	0.91302	0.0:0.0:1.0:0.0	.	963	Q9P2E7	PCD10_HUMAN	A	963	ENSP00000264360:G963A	ENSP00000264360:G963A	G	+	2	0	PCDH10	134303672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.717000	0.92951	0.650000	0.86243	GGA		0.522	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		27	29	0	0	0	0.003954	0	27	29				
UCP1	7350	broad.mit.edu	37	4	141484331	141484331	+	Silent	SNP	G	G	A	rs527369932		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:141484331G>A	ENST00000262999.3	-	4	636	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	187					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CTGTACAATTGATGATGACAC	0.338																																							uc011chj.1		NA																	0				ovary(1)	1						c.(559-561)ATC>ATT		uncoupling protein 1							128.0	126.0	126.0					4																	141484331		2203	4300	6503	SO:0001819	synonymous_variant	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141484331G>A	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.561C>T	4.37:g.141484331G>A						UCP1_uc011chk.1_Silent_p.I186I	p.I187I	NM_021833	NP_068605	P25874	UCP1_HUMAN			4	637	-	all_hematologic(180;0.162)		187			Helical; Name=4; (Potential).|Solcar 2.		Q13218|Q4KMZ3|Q68G66	Silent	SNP	ENST00000262999.3	37	c.561C>T	CCDS3753.1																																																																																				0.338	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			23	49	0	0	0	0.005443	0	23	49				
RNF150	57484	broad.mit.edu	37	4	141888788	141888788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:141888788C>A	ENST00000515673.2	-	2	757	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	RNF150_ENST00000507500.1_Missense_Mutation_p.D242Y|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.D101Y|RNF150_ENST00000420921.2_Missense_Mutation_p.D101Y|RNF150_ENST00000306799.3_Intron			Q9ULK6	RN150_HUMAN	ring finger protein 150	242						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGGTTCCTATCCCTGGCATTT	0.363																																							uc003iio.1		NA																	0				ovary(1)	1						c.(724-726)GAT>TAT		ring finger protein 150 precursor							55.0	55.0	55.0					4																	141888788		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888788C>A	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.724G>T	4.37:g.141888788C>A	ENSP00000425840:p.Asp242Tyr					RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.D242Y	p.D242Y	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			2	1378	-	all_hematologic(180;0.162)		242			Cytoplasmic (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.724G>T	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305495	0.81247	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.16457	2.34;2.34;3.33;3.34;2.38	5.83	5.83	0.93111	.	0.048640	0.85682	D	0.000000	T	0.38295	0.1035	M	0.69358	2.11	0.80722	D	1	P;D	0.52996	0.68;0.957	B;P	0.55871	0.281;0.786	T	0.04454	-1.0950	10	0.72032	D	0.01	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	242;242	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	Y	101;101;242;242;73	ENSP00000368827:D101Y;ENSP00000394581:D101Y;ENSP00000425840:D242Y;ENSP00000425568:D242Y;ENSP00000425947:D73Y	ENSP00000368827:D101Y	D	-	1	0	RNF150	142108238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.066000	0.71185	2.775000	0.95449	0.650000	0.86243	GAT		0.363	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		32	14	1	0	3.1745e-13	0.008361	4.66628e-13	32	14				
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:147796051C>A	ENST00000325106.4	-	7	842	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	TTC29_ENST00000398886.4_Nonsense_Mutation_p.E232*|TTC29_ENST00000513335.1_Nonsense_Mutation_p.E232*	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206								p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448																																							uc003ikw.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(616-618)GAA>TAA		tetratricopeptide repeat domain 29							44.0	42.0	43.0					4																	147796051		1873	4117	5990	SO:0001587	stop_gained	83894						binding	g.chr4:147796051C>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.616G>T	4.37:g.147796051C>A	ENSP00000316740:p.Glu206*					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Nonsense_Mutation_p.E232*|TTC29_uc010ipd.1_Nonsense_Mutation_p.E206*	p.E206*	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			7	843	-	all_hematologic(180;0.151)		206			TPR 1.		A4GU95|Q9BXB6	Nonsense_Mutation	SNP	ENST00000325106.4	37	c.616G>T	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	39	7.683734	0.98431	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-28.8814	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;206;206;206	.	ENSP00000316740:E206X	E	-	1	0	TTC29	148015501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.652000	0.67959	2.793000	0.96121	0.655000	0.94253	GAA		0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		21	10	1	0	3.83957e-06	0.00278	4.50868e-06	21	10				
MARCH1	55016	broad.mit.edu	37	4	164506997	164506997	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:164506997G>T	ENST00000503008.1	-	6	1303	c.327C>A	c.(325-327)tcC>tcA	p.S109S	MARCH1_ENST00000274056.7_Silent_p.S109S|MARCH1_ENST00000339875.5_Silent_p.S92S|MARCH1_ENST00000514618.1_Silent_p.S365S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	109					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGGAGGCAGGACTGGTGGA	0.542																																							uc003iqs.1		NA																	0				lung(2)	2						c.(325-327)TCC>TCA		membrane-associated RING-CH protein I							105.0	95.0	98.0					4																	164506997		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506997G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.327C>A	4.37:g.164506997G>T						MARCH1_uc003iqr.1_Silent_p.S92S	p.S109S	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			6	1304	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	109			RING-CH-type.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.327C>A	CCDS54814.1																																																																																				0.542	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		7	33	1	0	1.6384e-10	0.001984	2.21422e-10	7	33				
TRIM61	391712	broad.mit.edu	37	4	165891118	165891118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:165891118C>T	ENST00000329314.5	-	3	649	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	13						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		CAGCTAGCCTCTGCTCGGAGG	0.473																																							uc003iqw.2		NA																	0				skin(1)	1						c.(37-39)GAG>AAG		tripartite motif-containing 61							34.0	37.0	36.0					4																	165891118		2195	4287	6482	SO:0001583	missense	391712					intracellular	zinc ion binding	g.chr4:165891118C>T		CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24339	protein-coding gene	gene with protein product			"""ring finger protein 35"", ""tripartite motif-containing 61"""	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.37G>A	4.37:g.165891118C>T	ENSP00000332288:p.Glu13Lys						p.E13K	NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN		GBM - Glioblastoma multiforme(119;0.155)	3	648	-	all_hematologic(180;0.221)	Prostate(90;0.109)	13						Missense_Mutation	SNP	ENST00000329314.5	37	c.37G>A	CCDS34093.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508487	0.44660	.	.	ENSG00000183439	ENST00000329314	T	0.19806	2.12	3.07	2.21	0.28008	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.33644	0.0870	M	0.69463	2.115	0.09310	N	1	D	0.56035	0.974	P	0.54856	0.762	T	0.09751	-1.0660	9	0.87932	D	0	.	8.0153	0.30376	0.0:0.8695:0.0:0.1305	.	13	Q5EBN2	TRI61_HUMAN	K	13	ENSP00000332288:E13K	ENSP00000332288:E13K	E	-	1	0	TRIM61	166110568	0.014000	0.17966	0.001000	0.08648	0.009000	0.06853	2.477000	0.45180	0.631000	0.30412	-0.232000	0.12228	GAG		0.473	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364331.1	XM_373038		7	73	0	0	0	0.006214	0	7	73				
TRIM75P	391714	broad.mit.edu	37	4	165981373	165981373	+	IGR	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:165981373G>T								TRIM60 (18477 upstream) : RP11-219C20.3 (10386 downstream)																							TGGGGGATAAGTCAGAATGGG	0.463																																							uc011cjl.1		NA																	0					NA						c.(1072-1074)AAG>AAT		tripartite motif-containing 75							138.0	136.0	136.0					4																	165981373		1891	4115	6006	SO:0001628	intergenic_variant	0							g.chr4:165981373G>T																													4.37:g.165981373G>T							p.K358N	NM_001105575	NP_001099045					1	1074	+									Missense_Mutation	SNP		37	c.1074G>T																																																																																				0	0.463									57	49	1	0	2.40265e-35	0.00361	4.53484e-35	57	49				
TLL1	7092	broad.mit.edu	37	4	166981261	166981261	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:166981261A>G	ENST00000061240.2	+	15	2575	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	TLL1_ENST00000507499.1_Missense_Mutation_p.N666S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	643	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTAATAAGAACTGTGTGTGG	0.428																																							uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1927-1929)AAC>AGC		tolloid-like 1 precursor							93.0	91.0	92.0					4																	166981261		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981261A>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1928A>G	4.37:g.166981261A>G	ENSP00000061240:p.Asn643Ser					TLL1_uc011cjn.1_Missense_Mutation_p.N666S|TLL1_uc011cjo.1_Missense_Mutation_p.N467S	p.N643S	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2575	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	643			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1928A>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277782	0.80692	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17691	2.26;2.26	5.98	5.98	0.97165	CUB (5);	0.055420	0.64402	U	0.000001	T	0.23886	0.0578	L	0.58969	1.84	0.80722	D	1	P;B	0.46952	0.887;0.44	B;B	0.43754	0.43;0.332	T	0.00904	-1.1520	10	0.40728	T	0.16	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	666;643	E9PD25;O43897	.;TLL1_HUMAN	S	643;666	ENSP00000061240:N643S;ENSP00000426082:N666S	ENSP00000061240:N643S	N	+	2	0	TLL1	167200711	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.235000	0.95353	2.288000	0.76882	0.482000	0.46254	AAC		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			13	16	0	0	0	0.001368	0	13	16				
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353																																							uc003iri.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1240-1242)GAA>AAA		testican 3 isoform 2							184.0	175.0	178.0					4																	167656143		2203	4299	6502	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656143C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1240G>A	4.37:g.167656143C>T	ENSP00000349677:p.Glu414Lys					SPOCK3_uc011cjp.1_Missense_Mutation_p.E371K|SPOCK3_uc011cjq.1_Missense_Mutation_p.E423K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E294K|SPOCK3_uc003irj.1_Missense_Mutation_p.E411K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E363K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E322K|SPOCK3_uc011cju.1_Missense_Mutation_p.E307K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E316K	p.E414K	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	12	1381	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	414			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.1240G>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375657	0.42105	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.05	5.05	0.67936	.	0.397001	0.27076	N	0.021058	T	0.65533	0.2700	N	0.24115	0.695	0.46028	D	0.998824	B;B;P;B;B;B;B	0.34522	0.083;0.361;0.455;0.247;0.247;0.361;0.247	B;B;B;B;B;B;B	0.34652	0.038;0.133;0.142;0.091;0.091;0.187;0.091	T	0.69953	-0.5005	10	0.72032	D	0.01	-15.3075	18.3629	0.90380	0.0:1.0:0.0:0.0	.	316;318;363;423;371;411;414	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	K	414;411;411;414;414;414;371;294;316;411;282;363;316;318	ENSP00000349677:E414K;ENSP00000350153:E411K;ENSP00000425570:E411K;ENSP00000420920:E414K;ENSP00000423421:E414K;ENSP00000423606:E414K;ENSP00000426716:E371K;ENSP00000444789:E294K;ENSP00000426318:E316K;ENSP00000425502:E411K;ENSP00000441396:E282K;ENSP00000411344:E363K;ENSP00000445430:E316K;ENSP00000438142:E318K	ENSP00000349677:E414K	E	-	1	0	SPOCK3	167892718	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	5.206000	0.65192	2.504000	0.84457	0.637000	0.83480	GAA		0.353	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			9	24	0	0	0	0.004482	0	9	24				
MFAP3L	9848	broad.mit.edu	37	4	170912639	170912639	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:170912639T>A	ENST00000361618.3	-	3	1427	c.1120A>T	c.(1120-1122)Aca>Tca	p.T374S	MFAP3L_ENST00000393704.3_Missense_Mutation_p.T271S|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCAACAGGTGTTGGCTCTTCA	0.502																																							uc003isp.3		NA																	0				ovary(1)	1						c.(1120-1122)ACA>TCA		microfibrillar-associated protein 3-like isoform							177.0	148.0	158.0					4																	170912639		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170912639T>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1120A>T	4.37:g.170912639T>A	ENSP00000354583:p.Thr374Ser					MFAP3L_uc003isn.3_Missense_Mutation_p.T271S	p.T374S	NM_021647	NP_067679	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1298	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	374			Cytoplasmic (Potential).		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.1120A>T	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.669066	0.00765	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.97959	-4.63;-1.65	5.27	-0.191	0.13252	.	0.489229	0.19067	N	0.123620	D	0.91952	0.7451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80395	-0.1400	10	0.07990	T	0.79	-30.6594	3.1259	0.06407	0.2855:0.1811:0.0:0.5334	.	374	O75121	MFA3L_HUMAN	S	271;374	ENSP00000377307:T271S;ENSP00000354583:T374S	ENSP00000354583:T374S	T	-	1	0	MFAP3L	171149214	0.020000	0.18652	0.017000	0.16124	0.017000	0.09413	0.810000	0.27183	0.087000	0.17167	0.528000	0.53228	ACA		0.502	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		41	38	0	0	0	0.007835	0	41	38				
WDR17	116966	broad.mit.edu	37	4	177032808	177032808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:177032808G>T	ENST00000280190.4	+	3	305	c.149G>T	c.(148-150)gGa>gTa	p.G50V	WDR17_ENST00000507824.2_Missense_Mutation_p.G50V|WDR17_ENST00000508596.1_Missense_Mutation_p.G26V|WDR17_ENST00000393643.2_Missense_Mutation_p.G26V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	50										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTGCCAGTGGAGACAGGTTT	0.378																																							uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(148-150)GGA>GTA		WD repeat domain 17 isoform 1							139.0	126.0	130.0					4																	177032808		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032808G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.149G>T	4.37:g.177032808G>T	ENSP00000280190:p.Gly50Val					WDR17_uc003iuk.2_Missense_Mutation_p.G26V|WDR17_uc003ium.3_Missense_Mutation_p.G26V|WDR17_uc003iul.1_Missense_Mutation_p.G26V	p.G50V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	3	305	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	50					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.149G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634319	0.47049	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.60171	0.24;0.27;0.21	5.39	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);	0.127677	0.51477	D	0.000085	T	0.65883	0.2734	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.997	D;D;D	0.69654	0.92;0.965;0.941	T	0.69636	-0.5092	10	0.72032	D	0.01	-12.2929	15.3302	0.74203	0.0:0.0:0.8589:0.1411	.	26;50;50	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	V	26;26;50;26;50	ENSP00000422763:G26V;ENSP00000377258:G26V;ENSP00000280190:G50V	ENSP00000280190:G50V	G	+	2	0	WDR17	177269802	1.000000	0.71417	0.870000	0.34147	0.030000	0.12068	9.116000	0.94341	1.226000	0.43582	0.467000	0.42956	GGA		0.378	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			15	29	1	0	1.02788e-11	0.00499	1.44747e-11	15	29				
FAT1	2195	broad.mit.edu	37	4	187628590	187628590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:187628590C>A	ENST00000441802.2	-	2	2601	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	798	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGGGTATCCCAAGGTCATAG	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2392-2394)GGG>TGG		FAT tumor suppressor 1 precursor							179.0	180.0	180.0					4																	187628590		1980	4154	6134	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628590C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2392G>T	4.37:g.187628590C>A	ENSP00000406229:p.Gly798Trp	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.G798W	p.G798W	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2580	-			798			Extracellular (Potential).|Cadherin 6.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2392G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252615	0.59212	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.65916	-0.18	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93823	0.7120	10	0.87932	D	0	.	18.3508	0.90338	0.0:1.0:0.0:0.0	.	798	Q14517	FAT1_HUMAN	W	798	ENSP00000406229:G798W	ENSP00000260147:G798W	G	-	1	0	FAT1	187865584	1.000000	0.71417	0.986000	0.45419	0.179000	0.23085	7.651000	0.83577	2.557000	0.86248	0.591000	0.81541	GGG		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		51	28	1	0	2.3441e-25	0.00361	4.27872e-25	51	28				
PLEKHG4B	153478	broad.mit.edu	37	5	156309	156309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:156309G>C	ENST00000283426.6	+	8	1314	c.1264G>C	c.(1264-1266)Ggc>Cgc	p.G422R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	422							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGAGCTTGGCACAGAAGA	0.637																																							uc003jak.2		NA																	0				skin(2)	2						c.(1264-1266)GGC>CGC		pleckstrin homology domain containing, family G							45.0	42.0	43.0					5																	156309		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:156309G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1264G>C	5.37:g.156309G>C	ENSP00000283426:p.Gly422Arg						p.G422R	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	8	1314	+			422						Missense_Mutation	SNP	ENST00000283426.6	37	c.1264G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.341872	0.11069	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;2.93	3.65	1.03	0.20045	.	.	.	.	.	T	0.29588	0.0738	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.19160	-1.0314	9	0.14656	T	0.56	.	3.1616	0.06522	0.1783:0.0:0.5062:0.3155	.	422	Q96PX9	PKH4B_HUMAN	R	422;336	ENSP00000283426:G422R;ENSP00000422493:G336R	ENSP00000283426:G422R	G	+	1	0	PLEKHG4B	209309	0.039000	0.19947	0.002000	0.10522	0.017000	0.09413	0.889000	0.28282	0.361000	0.24292	0.467000	0.42956	GGC		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		16	30	0	0	0	0.003163	0	16	30				
SEMA5A	9037	broad.mit.edu	37	5	9054200	9054200	+	Splice_Site	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:9054200T>G	ENST00000382496.5	-	19	3353	c.2688A>C	c.(2686-2688)ccA>ccC	p.P896P	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	896	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCGCTTACCTGGGCAGGGCT	0.537																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2686-2688)CCA>CCC		semaphorin 5A precursor							77.0	74.0	75.0					5																	9054200		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9054200T>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2689+1A>C	5.37:g.9054200T>G							p.P896P	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			19	3400	-			896			TSP type-1 6.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.2688A>C	CCDS3875.1																																																																																				0.537	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Silent	25	38	0	0	0	0.00632	0	25	38				
FAM173B	134145	broad.mit.edu	37	5	10227603	10227603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:10227603C>A	ENST00000511437.1	-	5	664	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	FAM173B_ENST00000510047.1_Nonsense_Mutation_p.E201*|FAM173B_ENST00000510052.1_5'Flank|FAM173B_ENST00000280330.8_Nonsense_Mutation_p.E54*	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	218						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCTCTTTTCACGGCCTCTA	0.493																																							uc003jeo.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(652-654)GAA>TAA		hypothetical protein LOC134145							120.0	119.0	119.0					5																	10227603		1955	4138	6093	SO:0001587	stop_gained	134145					integral to membrane		g.chr5:10227603C>A		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.652G>T	5.37:g.10227603C>A	ENSP00000422338:p.Glu218*					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Nonsense_Mutation_p.E201*	p.E218*	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			5	681	-			218					B4DT41|B4DXK2|E9PBZ4	Nonsense_Mutation	SNP	ENST00000511437.1	37	c.652G>T	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841088	0.32513	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	.	.	.	4.92	0.814	0.18756	.	2.147540	0.01599	N	0.021929	.	.	.	.	.	.	0.52099	D	0.999943	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-1.2571	5.7354	0.18063	0.0:0.594:0.1417:0.2643	.	.	.	.	X	54;218;201	.	ENSP00000280330:E54X	E	-	1	0	FAM173B	10280603	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.039000	0.13884	0.161000	0.19458	0.650000	0.86243	GAA		0.493	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		29	43	1	0	4.31634e-10	0.002445	5.78453e-10	29	43				
MYO10	4651	broad.mit.edu	37	5	16672932	16672932	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:16672932C>T	ENST00000513610.1	-	37	5629	c.5175G>A	c.(5173-5175)gtG>gtA	p.V1725V	MYO10_ENST00000505695.1_Silent_p.V1064V|MYO10_ENST00000427430.2_Silent_p.V1082V|MYO10_ENST00000274203.9_Silent_p.V1082V|MYO10_ENST00000515803.1_Silent_p.V1064V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1725	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTCTCCACCACCTGGAAGA	0.567																																							uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5173-5175)GTG>GTA		myosin X							63.0	62.0	62.0					5																	16672932		2076	4191	6267	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16672932C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5175G>A	5.37:g.16672932C>T						MYO10_uc011cnb.1_Silent_p.V354V|MYO10_uc011cnc.1_Silent_p.V604V|MYO10_uc011cnd.1_Silent_p.V1082V|MYO10_uc011cne.1_Silent_p.V1082V|MYO10_uc010itx.2_Silent_p.V1347V	p.V1725V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			37	5643	-			1725			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.5175G>A	CCDS54834.1																																																																																				0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		12	13	0	0	0	0.00245	0	12	13				
CDH10	1008	broad.mit.edu	37	5	24535323	24535323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:24535323G>T	ENST00000264463.4	-	5	1219	c.712C>A	c.(712-714)Cag>Aag	p.Q238K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTTGGCCTGGATGACCACT	0.463										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(712-714)CAG>AAG		cadherin 10, type 2 preproprotein							196.0	156.0	169.0					5																	24535323		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535323G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.712C>A	5.37:g.24535323G>T	ENSP00000264463:p.Gln238Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Q238K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1044	-			238			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.712C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621262	0.87460	.	.	ENSG00000040731	ENST00000264463	T	0.01685	4.69	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.05502	0.0145	L	0.35593	1.075	0.47476	D	0.999432	D	0.60160	0.987	P	0.59221	0.854	T	0.42882	-0.9425	10	0.72032	D	0.01	.	18.5928	0.91220	0.0:0.0:1.0:0.0	.	238	Q9Y6N8	CAD10_HUMAN	K	238	ENSP00000264463:Q238K	ENSP00000264463:Q238K	Q	-	1	0	CDH10	24571080	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.884000	0.87274	2.639000	0.89480	0.591000	0.81541	CAG		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		30	40	1	0	1.36615e-20	0.002836	2.35362e-20	30	40				
TARS	6897	broad.mit.edu	37	5	33456123	33456123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:33456123G>T	ENST00000265112.3	+	7	1021	c.710G>T	c.(709-711)tGc>tTc	p.C237F	TARS_ENST00000455217.2_Missense_Mutation_p.C270F|TARS_ENST00000414361.2_Missense_Mutation_p.C116F|TARS_ENST00000541634.1_Missense_Mutation_p.C133F|TARS_ENST00000502553.1_Missense_Mutation_p.C237F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	237					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGTTCAAATGCCGGATATTG	0.294																																							uc003jhy.2		NA																	0				ovary(2)	2						c.(709-711)TGC>TTC		threonyl-tRNA synthetase	L-Threonine(DB00156)						93.0	94.0	94.0					5																	33456123		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33456123G>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.710G>T	5.37:g.33456123G>T	ENSP00000265112:p.Cys237Phe					TARS_uc011cob.1_Missense_Mutation_p.C225F|TARS_uc010iup.1_Missense_Mutation_p.C178F|TARS_uc011coc.1_Missense_Mutation_p.C258F|TARS_uc003jhz.2_Missense_Mutation_p.C133F|TARS_uc011cod.1_Missense_Mutation_p.C116F	p.C237F	NM_152295	NP_689508	P26639	SYTC_HUMAN			7	1005	+			237					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.710G>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218948	0.39201	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.41758	0.99;0.99;1.0	5.94	5.94	0.96194	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.71296	2.17	0.80722	D	1	B;P;P;P	0.47034	0.001;0.823;0.889;0.823	B;B;B;B	0.41510	0.001;0.359;0.359;0.284	T	0.53704	-0.8401	10	0.54805	T	0.06	0.1743	20.4127	0.99019	0.0:0.0:1.0:0.0	.	116;270;133;237	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	F	237;237;133;270;116	ENSP00000424387:C237F;ENSP00000265112:C237F;ENSP00000387710:C270F	ENSP00000265112:C237F	C	+	2	0	TARS	33491880	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.667000	0.68067	2.829000	0.97493	0.579000	0.79373	TGC		0.294	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		10	40	1	0	3.86212e-05	0.008291	4.37828e-05	10	40				
ADAMTS12	81792	broad.mit.edu	37	5	33576721	33576721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:33576721G>T	ENST00000504830.1	-	19	3745	c.3410C>A	c.(3409-3411)aCt>aAt	p.T1137N	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1052N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1137	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						CACAGGCCAAGTGATAGGGTT	0.478										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3409-3411)ACT>AAT		ADAM metallopeptidase with thrombospondin type 1							101.0	95.0	97.0					5																	33576721		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576721G>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.3410C>A	5.37:g.33576721G>T	ENSP00000422554:p.Thr1137Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1052N	p.T1137N	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3573	-			1137			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3410C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	4.808	0.150170	0.09185	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61742	0.13;0.08	5.33	2.53	0.30540	.	0.519830	0.20088	N	0.099508	T	0.40619	0.1124	L	0.29908	0.895	0.09310	N	1	P;B	0.36837	0.571;0.435	B;B	0.37508	0.252;0.128	T	0.16748	-1.0392	10	0.20519	T	0.43	.	7.6211	0.28185	0.0854:0.3142:0.6005:0.0	.	1052;1137	P58397-3;P58397	.;ATS12_HUMAN	N	1137;1052	ENSP00000422554:T1137N;ENSP00000344847:T1052N	ENSP00000344847:T1052N	T	-	2	0	ADAMTS12	33612478	0.032000	0.19561	0.004000	0.12327	0.575000	0.36095	1.190000	0.32126	0.367000	0.24454	0.655000	0.94253	ACT		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		17	55	1	0	1.02788e-11	0.00499	1.44747e-11	17	55				
EGFLAM	133584	broad.mit.edu	37	5	38451501	38451501	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:38451501C>A	ENST00000354891.3	+	20	2998	c.2652C>A	c.(2650-2652)ccC>ccA	p.P884P	EGFLAM_ENST00000397202.2_Silent_p.P242P|EGFLAM_ENST00000397210.3_Silent_p.P19P|EGFLAM_ENST00000336740.6_Silent_p.P642P|EGFLAM_ENST00000322350.5_Silent_p.P876P|EGFLAM_ENST00000514476.1_Silent_p.P19P|EGFLAM_ENST00000506135.1_Silent_p.P19P	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	884	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAGACAGCCCCATGAGACCCA	0.522																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2650-2652)CCC>CCA		EGF-like, fibronectin type III and laminin G							195.0	170.0	178.0					5																	38451501		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451501C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2652C>A	5.37:g.38451501C>A						EGFLAM_uc003jlb.1_Silent_p.P876P|EGFLAM_uc003jle.1_Silent_p.P642P|EGFLAM_uc003jlf.1_Silent_p.P242P|EGFLAM_uc003jlg.1_Silent_p.P19P	p.P884P	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			20	2976	+	all_lung(31;0.000385)		884			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2652C>A	CCDS56363.1																																																																																				0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		57	70	1	0	7.77372e-23	0.00361	1.37374e-22	57	70				
NNT	23530	broad.mit.edu	37	5	43645480	43645480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:43645480G>T	ENST00000264663.5	+	10	1533	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S	NNT_ENST00000512996.2_Missense_Mutation_p.A307S|NNT_ENST00000344920.4_Missense_Mutation_p.A438S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	438					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GATTTTCCCAGCTCCCACACC	0.373																																							uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1312-1314)GCT>TCT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						68.0	68.0	68.0					5																	43645480		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43645480G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1312G>T	5.37:g.43645480G>T	ENSP00000264663:p.Ala438Ser					NNT_uc003jof.2_Missense_Mutation_p.A438S	p.A438S	NM_012343	NP_036475	Q13423	NNTM_HUMAN			10	1567	+	Lung NSC(6;2.58e-06)		438			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1312G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609607	0.46527	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996;ENST00000503651	D;D;D;D	0.95756	-3.8;-3.8;-3.67;-1.69	5.49	4.62	0.57501	.	0.145651	0.64402	D	0.000008	D	0.93949	0.8063	L	0.58510	1.815	0.47819	D	0.999526	B	0.02656	0.0	B	0.04013	0.001	D	0.91027	0.4861	10	0.54805	T	0.06	-6.2257	16.8073	0.85709	0.0:0.128:0.872:0.0	.	438	Q13423	NNTM_HUMAN	S	438;438;307;8	ENSP00000264663:A438S;ENSP00000343873:A438S;ENSP00000426343:A307S;ENSP00000421674:A8S	ENSP00000264663:A438S	A	+	1	0	NNT	43681237	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	3.584000	0.53936	1.322000	0.45245	-0.156000	0.13503	GCT		0.373	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		26	43	1	0	3.73988e-18	0.00632	6.15629e-18	26	43				
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262526C>T	ENST00000303230.4	-	8	2227	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	724					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14291	0.0		0.0	False		,,,				2504	0.0						uc003jok.2		NA																	0				ovary(1)	1						c.(2170-2172)GCC>ACC		hyperpolarization activated cyclic		C	THR/ALA	6,4400	9.9+/-24.2	0,6,2197	31.0	32.0	32.0		2170	4.7	0.0	5	dbSNP_134	32	0,8600		0,0,4300	yes	missense	HCN1	NM_021072.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging	724/891	45262526	6,13000	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262526C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2170G>A	5.37:g.45262526C>T	ENSP00000307342:p.Ala724Thr						p.A724T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2195	-			724			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2170G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976322	0.53720	0.001362	0.0	ENSG00000164588	ENST00000303230	T	0.76578	-1.03	5.52	4.65	0.58169	.	0.000000	0.64402	D	0.000007	T	0.72661	0.3488	L	0.50333	1.59	0.47245	D	0.999362	B	0.13594	0.008	B	0.06405	0.002	T	0.68618	-0.5361	10	0.44086	T	0.13	.	14.4319	0.67257	0.0:0.9293:0.0:0.0707	.	724	O60741	HCN1_HUMAN	T	724	ENSP00000307342:A724T	ENSP00000307342:A724T	A	-	1	0	HCN1	45298283	0.995000	0.38212	0.040000	0.18447	0.974000	0.67602	3.307000	0.51888	1.332000	0.45431	0.655000	0.94253	GCC		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		12	26	0	0	0	0.001855	0	12	26				
HCN1	348980	broad.mit.edu	37	5	45262657	45262657	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262657G>C	ENST00000303230.4	-	8	2096	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	680					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTGGGGGAGTGCAGGTT	0.622																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2038-2040)TCC>TGC		hyperpolarization activated cyclic							102.0	104.0	104.0					5																	45262657		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262657G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2039C>G	5.37:g.45262657G>C	ENSP00000307342:p.Ser680Cys						p.S680C	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2064	-			680			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2039C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078258	0.76528	.	.	ENSG00000164588	ENST00000303230	D	0.97831	-4.56	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000013	D	0.98245	0.9419	L	0.55481	1.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.98753	1.0721	10	0.48119	T	0.1	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	680	O60741	HCN1_HUMAN	C	680	ENSP00000307342:S680C	ENSP00000307342:S680C	S	-	2	0	HCN1	45298414	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	5.315000	0.65810	2.528000	0.85240	0.563000	0.77884	TCC		0.622	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		38	25	0	0	0	0.004878	0	38	25				
HCN1	348980	broad.mit.edu	37	5	45262811	45262811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262811C>A	ENST00000303230.4	-	8	1942	c.1885G>T	c.(1885-1887)Gac>Tac	p.D629Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	629					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTCCCTGTCATGTTTCACA	0.448																																							uc003jok.2		NA																	0				ovary(1)	1						c.(1885-1887)GAC>TAC		hyperpolarization activated cyclic							145.0	126.0	133.0					5																	45262811		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262811C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1885G>T	5.37:g.45262811C>A	ENSP00000307342:p.Asp629Tyr						p.D629Y	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1910	-			629			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1885G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980927	0.74474	.	.	ENSG00000164588	ENST00000303230	D	0.89343	-2.5	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	D	0.94565	0.8249	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94008	0.7281	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	629	O60741	HCN1_HUMAN	Y	629	ENSP00000307342:D629Y	ENSP00000307342:D629Y	D	-	1	0	HCN1	45298568	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAC		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	88	1	0	9.7654e-05	0.007413	0.000109161	19	88				
CENPK	64105	broad.mit.edu	37	5	64850710	64850710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:64850710C>A	ENST00000396679.1	-	3	239	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	CENPK_ENST00000242872.3_Missense_Mutation_p.D9Y|CENPK_ENST00000510693.1_5'UTR|CENPK_ENST00000508421.1_5'UTR|CENPK_ENST00000510354.1_Missense_Mutation_p.D9Y|CENPK_ENST00000514814.1_Missense_Mutation_p.D9Y|CENPK_ENST00000506282.2_Intron	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	9					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GTAGTACTATCCGGATCTAGA	0.313																																							uc003jts.2		NA																	0					0						c.(25-27)GAT>TAT		SoxLZ/Sox6 leucine zipper binding protein							201.0	206.0	204.0					5																	64850710		2203	4298	6501	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64850710C>A	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.25G>T	5.37:g.64850710C>A	ENSP00000379911:p.Asp9Tyr					CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Missense_Mutation_p.D9Y	p.D9Y	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	3	237	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	9					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.25G>T	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613842	0.66672	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000515497;ENST00000502997;ENST00000510354	.	.	.	5.74	5.74	0.90152	.	0.330452	0.35739	N	0.003005	T	0.75917	0.3915	M	0.64997	1.995	0.43242	D	0.99515	D	0.71674	0.998	D	0.67382	0.951	T	0.76873	-0.2798	9	0.72032	D	0.01	-13.1643	15.7729	0.78184	0.0:1.0:0.0:0.0	.	9	Q9BS16	CENPK_HUMAN	Y	9;9;9;11;9;9	.	ENSP00000242872:D9Y	D	-	1	0	CENPK	64886466	0.997000	0.39634	1.000000	0.80357	0.549000	0.35272	2.290000	0.43531	2.873000	0.98535	0.561000	0.74099	GAT		0.313	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		66	39	1	0	1.25742e-37	0.00361	2.38579e-37	66	39				
IQGAP2	10788	broad.mit.edu	37	5	75893271	75893271	+	Silent	SNP	T	T	A	rs141398992	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:75893271T>A	ENST00000274364.6	+	10	1212	c.915T>A	c.(913-915)gcT>gcA	p.A305A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	305					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGGGCAGGCTGCAGTGGACC	0.527													T|||	8	0.00159744	0.0053	0.0014	5008	,	,		19856	0.0		0.0	False		,,,				2504	0.0						uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(913-915)GCT>GCA		IQ motif containing GTPase activating protein 2		T		21,4385	29.0+/-57.7	0,21,2182	100.0	95.0	97.0		915	-3.3	1.0	5	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IQGAP2	NM_006633.2		0,23,6480	AA,AT,TT		0.0233,0.4766,0.1768		305/1576	75893271	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75893271T>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.915T>A	5.37:g.75893271T>A							p.A305A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	10	1137	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	305					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.915T>A	CCDS34188.1																																																																																				0.527	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		17	12	0	0	0	0.00499	0	17	12				
GPR98	84059	broad.mit.edu	37	5	90059178	90059178	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:90059178G>T	ENST00000405460.2	+	59	12273	c.12177G>T	c.(12175-12177)acG>acT	p.T4059T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4059	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACATTGACGGTTGTCCGGT	0.418																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12175-12177)ACG>ACT		G protein-coupled receptor 98 precursor							66.0	63.0	64.0					5																	90059178		1861	4106	5967	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90059178G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12177G>T	5.37:g.90059178G>T						GPR98_uc003kjt.2_Silent_p.T1765T	p.T4059T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	59	12273	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4059			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.12177G>T	CCDS47246.1																																																																																				0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	10	1	0	0.000442599	0.006214	0.000483873	10	10				
CHD1	1105	broad.mit.edu	37	5	98236897	98236897	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:98236897G>C	ENST00000284049.3	-	5	729	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	194					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TACCTATTTTGAGGTTTTCTG	0.328																																							uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(580-582)CAA>GAA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						213.0	202.0	205.0					5																	98236897		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98236897G>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.580C>G	5.37:g.98236897G>C	ENSP00000284049:p.Gln194Glu						p.Q194E	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	5	728	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	194					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.580C>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	4.823	0.153002	0.09185	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.88896	-2.44	5.76	5.76	0.90799	.	0.262392	0.19461	U	0.113685	T	0.77665	0.4164	N	0.08118	0	0.38864	D	0.956545	B	0.20671	0.047	B	0.20577	0.03	T	0.72340	-0.4323	10	0.02654	T	1	.	18.5232	0.90962	0.0:0.0:1.0:0.0	.	194	O14646	CHD1_HUMAN	E	194	ENSP00000284049:Q194E	ENSP00000284049:Q194E	Q	-	1	0	CHD1	98264797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.018000	0.64054	2.880000	0.98712	0.650000	0.86243	CAA		0.328	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		23	79	0	0	0	0.004656	0	23	79				
SLC25A48	153328	broad.mit.edu	37	5	135207338	135207338	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:135207338G>C	ENST00000420621.1	+	5	782	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SLC25A48_ENST00000433282.2_Missense_Mutation_p.E150Q|SLC25A48_ENST00000274513.5_Missense_Mutation_p.E204Q|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	204					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTTCCTGAGTGAGTGGATCAC	0.662																																							uc003laz.1		NA																	0					0						c.(610-612)GAG>CAG		RecName: Full=Putative mitochondrial carrier protein FLJ44862;							61.0	69.0	66.0					5																	135207338		2007	4177	6184	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207338G>C		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.610G>C	5.37:g.135207338G>C	ENSP00000407973:p.Glu204Gln					LOC153328_uc003lba.2_Intron	p.E204Q			Q6ZT89	S2548_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	782	+			204			Helical; Name=4; (Potential).|Solcar 2.		Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.610G>C		.	.	.	.	.	.	.	.	.	.	G	14.45	2.539261	0.45176	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282	T;T;T	0.79653	-1.29;-1.29;-1.29	5.81	4.94	0.65067	.	0.537430	0.21583	N	0.072203	T	0.80701	0.4673	.	.	.	0.09310	N	0.999994	P	0.40332	0.713	P	0.47430	0.547	T	0.72434	-0.4295	9	0.33940	T	0.23	-28.7932	14.9695	0.71223	0.0704:0.0:0.9296:0.0	.	204	Q6ZT89-2	.	Q	204;204;150	ENSP00000274513:E204Q;ENSP00000407973:E204Q;ENSP00000399834:E150Q	ENSP00000274513:E204Q	E	+	1	0	SLC25A48	135235237	0.460000	0.25776	0.708000	0.30435	0.885000	0.51271	2.459000	0.45023	2.757000	0.94681	0.462000	0.41574	GAG		0.662	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		6	22	0	0	0	0.001168	0	6	22				
IL9	3578	broad.mit.edu	37	5	135231498	135231498	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:135231498A>T	ENST00000274520.1	-	1	18	c.8T>A	c.(7-9)cTg>cAg	p.L3Q	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	3					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCATGGCCAGAAGCATCTT	0.542																																							uc003lbb.1		NA																	0					0						c.(7-9)CTG>CAG		interleukin 9 precursor							47.0	50.0	49.0					5																	135231498		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231498A>T	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.8T>A	5.37:g.135231498A>T	ENSP00000274520:p.Leu3Gln						p.L3Q	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	19	-			3						Missense_Mutation	SNP	ENST00000274520.1	37	c.8T>A	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.042015	0.35989	.	.	ENSG00000145839	ENST00000274520	T	0.53423	0.62	4.8	1.02	0.19986	.	0.399505	0.18113	N	0.151298	T	0.47432	0.1445	L	0.43152	1.355	0.09310	N	1	D	0.55385	0.971	P	0.54401	0.751	T	0.33343	-0.9872	10	0.66056	D	0.02	-2.732	7.0652	0.25147	0.7081:0.0:0.2919:0.0	.	3	P15248	IL9_HUMAN	Q	3	ENSP00000274520:L3Q	ENSP00000274520:L3Q	L	-	2	0	IL9	135259397	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.362000	0.20284	0.285000	0.22329	0.533000	0.62120	CTG		0.542	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		13	5	0	0	0	0.004007	0	13	5				
PCDHA5	56143	broad.mit.edu	37	5	140202807	140202807	+	Missense_Mutation	SNP	G	G	C	rs371306705		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140202807G>C	ENST00000529859.1	+	1	1447	c.1447G>C	c.(1447-1449)Gcg>Ccg	p.A483P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A483P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A483P|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.667																																							uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1447-1449)GCG>CCG		protocadherin alpha 5 isoform 1 precursor							72.0	76.0	75.0					5																	140202807		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202807G>C	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1447G>C	5.37:g.140202807G>C	ENSP00000436557:p.Ala483Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A483P|PCDHA5_uc003lhj.1_Missense_Mutation_p.A483P	p.A483P	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1447	+			483			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1447G>C	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693700	0.48202	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52754	0.65;0.65;0.65	3.86	2.98	0.34508	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61451	0.2348	M	0.63428	1.95	0.22479	N	0.999061	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.77557	0.99;0.94;0.94	T	0.47983	-0.9074	9	0.72032	D	0.01	.	7.1437	0.25570	0.2822:0.0:0.7178:0.0	.	483;483;483	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	P	483	ENSP00000433416:A483P;ENSP00000436557:A483P;ENSP00000367366:A483P	ENSP00000367366:A483P	A	+	1	0	PCDHA5	140182991	0.000000	0.05858	0.999000	0.59377	0.619000	0.37552	-0.519000	0.06260	0.736000	0.32559	0.461000	0.40582	GCG		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		12	56	0	0	0	0.001855	0	12	56				
PCDHA5	56143	broad.mit.edu	37	5	140203561	140203561	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140203561G>T	ENST00000529859.1	+	1	2201	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G734V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G734V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	734					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACACGGGGCAAGCCCACT	0.662																																							uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2200-2202)GGC>GTC		protocadherin alpha 5 isoform 1 precursor							63.0	58.0	60.0					5																	140203561		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203561G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2201G>T	5.37:g.140203561G>T	ENSP00000436557:p.Gly734Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G734V|PCDHA5_uc003lhj.1_Missense_Mutation_p.G734V	p.G734V	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2201	+			734			Cytoplasmic (Potential).		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2201G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	1.862	-0.462506	0.04508	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.13778	2.56;2.56;2.56	4.17	1.03	0.20045	.	.	.	.	.	T	0.10637	0.0260	L	0.43152	1.355	0.09310	N	0.999999	B;B;B	0.17852	0.024;0.019;0.016	B;B;B	0.23419	0.018;0.03;0.046	T	0.35475	-0.9787	9	0.40728	T	0.16	.	2.2973	0.04153	0.1726:0.1516:0.5198:0.1561	.	734;734;734	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	734	ENSP00000433416:G734V;ENSP00000436557:G734V;ENSP00000367366:G734V	ENSP00000367366:G734V	G	+	2	0	PCDHA5	140183745	0.102000	0.21896	0.027000	0.17364	0.013000	0.08279	1.773000	0.38563	0.329000	0.23460	-0.424000	0.05967	GGC		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		27	14	1	0	9.39395e-14	0.00632	1.40812e-13	27	14				
PCDHA11	56138	broad.mit.edu	37	5	140250979	140250979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140250979C>A	ENST00000398640.2	+	1	2291	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	764	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGCCCACCTAAGACGGAC	0.637																																							uc003lia.2		NA																	0				breast(1)	1						c.(2290-2292)CCT>CAT		protocadherin alpha 11 isoform 1 precursor							32.0	35.0	34.0					5																	140250979		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250979C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2291C>A	5.37:g.140250979C>A	ENSP00000381636:p.Pro764His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P764H	p.P764H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3149	+			764			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.2291C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	4.803	0.149247	0.09185	.	.	ENSG00000249158	ENST00000398640	T	0.13089	2.62	4.81	2.64	0.31445	.	.	.	.	.	T	0.25269	0.0614	M	0.90145	3.09	0.18873	N	0.999989	B;B	0.22909	0.077;0.025	B;B	0.26202	0.067;0.021	T	0.16600	-1.0397	9	0.51188	T	0.08	.	11.0448	0.47852	0.0:0.8109:0.0:0.1891	.	764;764	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	764	ENSP00000381636:P764H	ENSP00000381636:P764H	P	+	2	0	PCDHA11	140231163	0.000000	0.05858	0.609000	0.28983	0.222000	0.24845	0.886000	0.28241	1.009000	0.39289	0.655000	0.94253	CCT		0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		11	3	1	0	3.07112e-06	0.000978	3.6122e-06	11	3				
PCDHB3	56132	broad.mit.edu	37	5	140480404	140480404	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140480404G>A	ENST00000231130.2	+	1	171	c.171G>A	c.(169-171)gaG>gaA	p.E57E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGGGTAGAGGAACTGGCCG	0.502																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(169-171)GAG>GAA		protocadherin beta 3 precursor							59.0	69.0	66.0					5																	140480404		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480404G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.171G>A	5.37:g.140480404G>A						uc003lin.2_Intron	p.E57E	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	171	+			57			Extracellular (Potential).|Cadherin 1.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.171G>A	CCDS4245.1																																																																																				0.502	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		14	42	0	0	0	0.004007	0	14	42				
PCDHB3	56132	broad.mit.edu	37	5	140482553	140482553	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140482553T>G	ENST00000231130.2	+	1	2320	c.2320T>G	c.(2320-2322)Ttc>Gtc	p.F774V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	774					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCCCAACTTCGTTGCTCA	0.517																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2320-2322)TTC>GTC		protocadherin beta 3 precursor							77.0	79.0	79.0					5																	140482553		2202	4297	6499	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482553T>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2320T>G	5.37:g.140482553T>G	ENSP00000231130:p.Phe774Val					uc003lin.2_5'Flank	p.F774V	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2320	+			774			Cytoplasmic (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2320T>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265968	0.23136	.	.	ENSG00000113205	ENST00000231130	T	0.13307	2.6	3.34	-4.91	0.03085	.	.	.	.	.	T	0.09423	0.0232	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.33854	-0.9852	9	0.41790	T	0.15	.	4.061	0.09839	0.2132:0.45:0.0:0.3368	.	774	Q9Y5E6	PCDB3_HUMAN	V	774	ENSP00000231130:F774V	ENSP00000231130:F774V	F	+	1	0	PCDHB3	140462737	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.816000	0.00752	-1.343000	0.02219	0.402000	0.26972	TTC		0.517	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		25	39	0	0	0	0.004289	0	25	39				
PCDHB7	56129	broad.mit.edu	37	5	140553499	140553499	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140553499C>G	ENST00000231137.3	+	1	1257	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTCACCCGAGACAGTCG	0.473																																							uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1081-1083)CCC>CCG		protocadherin beta 7 precursor							40.0	42.0	41.0					5																	140553499		2202	4300	6502	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553499C>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1083C>G	5.37:g.140553499C>G							p.P361P	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1257	+			361			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1083C>G	CCDS4249.1																																																																																				0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	16	0	0	0	0.00333	0	25	16				
PCDHB10	56126	broad.mit.edu	37	5	140572190	140572190	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140572190G>T	ENST00000239446.4	+	1	249	c.65G>T	c.(64-66)gGa>gTa	p.G22V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	22					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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTTGGGGAGTGTCCTTG	0.468																																							uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(64-66)GGA>GTA		protocadherin beta 10 precursor							110.0	123.0	118.0					5																	140572190		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572190G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.65G>T	5.37:g.140572190G>T	ENSP00000239446:p.Gly22Val						p.G22V	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	239	+			22					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.65G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225373	0.39300	.	.	ENSG00000120324	ENST00000239446	T	0.45276	0.9	3.35	-1.34	0.09143	.	.	.	.	.	T	0.45558	0.1348	L	0.49778	1.585	0.09310	N	0.999997	D	0.76494	0.999	D	0.76575	0.988	T	0.40720	-0.9548	9	0.16420	T	0.52	.	1.7467	0.02963	0.3116:0.1713:0.3937:0.1235	.	22	Q9UN67	PCDBA_HUMAN	V	22	ENSP00000239446:G22V	ENSP00000239446:G22V	G	+	2	0	PCDHB10	140552374	0.060000	0.20803	0.003000	0.11579	0.972000	0.66771	0.873000	0.28052	-0.052000	0.13311	0.549000	0.68633	GGA		0.468	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		34	54	1	0	4.92203e-23	0.00623	8.74084e-23	34	54				
PCDHB13	56123	broad.mit.edu	37	5	140595266	140595266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140595266T>C	ENST00000341948.4	+	1	1758	c.1571T>C	c.(1570-1572)cTg>cCg	p.L524P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGAGGCCCTGCAGGGGTTC	0.692																																							uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(1570-1572)CTG>CCG		protocadherin beta 13 precursor							73.0	81.0	79.0					5																	140595266		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595266T>C	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1571T>C	5.37:g.140595266T>C	ENSP00000345491:p.Leu524Pro						p.L524P	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1758	+			524			Extracellular (Potential).|Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1571T>C	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	14.95	2.687690	0.48097	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01767	4.65	3.27	3.27	0.37495	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09113	0.0225	M	0.81341	2.54	0.21105	N	0.999782	D	0.89917	1.0	D	0.87578	0.998	T	0.07635	-1.0762	9	0.87932	D	0	.	7.4738	0.27363	0.193:0.0:0.0:0.807	.	524	Q9Y5F0	PCDBD_HUMAN	P	524	ENSP00000345491:L524P	ENSP00000345491:L524P	L	+	2	0	PCDHB13	140575450	0.001000	0.12720	0.460000	0.27093	0.003000	0.03518	0.973000	0.29422	1.272000	0.44329	0.369000	0.22263	CTG		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		31	52	0	0	0	0.003755	0	31	52				
PCDHGA1	56114	broad.mit.edu	37	5	140712366	140712366	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140712366G>T	ENST00000517417.1	+	1	2115	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L	PCDHGA1_ENST00000378105.3_Silent_p.L705L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCTTCCTGGCCTTCGTCA	0.677																																							uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(2113-2115)CTG>CTT		protocadherin gamma subfamily A, 1 isoform 1							66.0	76.0	72.0					5																	140712366		2203	4298	6501	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712366G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2115G>T	5.37:g.140712366G>T						PCDHGA1_uc011dan.1_Silent_p.L705L	p.L705L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2115	+			705			Helical; (Potential).		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2115G>T	CCDS54922.1																																																																																				0.677	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		15	73	1	0	1.5739e-10	0.004007	2.13908e-10	15	73				
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140718777G>T	ENST00000394576.2	+	1	239	c.239G>T	c.(238-240)cGa>cTa	p.R80L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572																																							uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(238-240)CGA>CTA		protocadherin gamma subfamily A, 2 isoform 1							59.0	64.0	62.0					5																	140718777		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140718777G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.239G>T	5.37:g.140718777G>T	ENSP00000378077:p.Arg80Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R80L	p.R80L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	424	+			80			Cadherin 1.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.239G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.261156	0.39995	.	.	ENSG00000081853	ENST00000394576	T	0.28069	1.63	5.08	3.27	0.37495	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37136	U	0.002224	T	0.42698	0.1214	M	0.83384	2.64	0.09310	N	1	P;P	0.42483	0.564;0.781	B;P	0.49477	0.3;0.612	T	0.37244	-0.9714	10	0.62326	D	0.03	.	5.4761	0.16695	0.3917:0.0:0.6083:0.0	.	80;80	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	80	ENSP00000378077:R80L	ENSP00000378077:R80L	R	+	2	0	PCDHGA2	140698961	0.001000	0.12720	0.804000	0.32291	0.427000	0.31564	1.396000	0.34531	1.280000	0.44463	-0.218000	0.12543	CGA		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		31	12	1	0	5.8336e-16	0.003271	9.20356e-16	31	12				
PCDHGA4	56111	broad.mit.edu	37	5	140736964	140736964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140736964G>T	ENST00000571252.1	+	1	2197	c.2197G>T	c.(2197-2199)Gca>Tca	p.A733S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	733					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGTTGGCAGGTGTGCC	0.617																																							uc003ljq.1		NA																	0					0						c.(2197-2199)GCA>TCA		protocadherin gamma subfamily A, 4 isoform 1							52.0	55.0	54.0					5																	140736964		2203	4300	6503	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736964G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2197G>T	5.37:g.140736964G>T	ENSP00000458570:p.Ala733Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.A733S|PCDHGB2_uc011dar.1_5'Flank	p.A733S	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2197	+			733			Cytoplasmic (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2197G>T	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		22	23	1	0	7.41877e-09	0.001882	9.63772e-09	22	23				
PCDHGA6	56109	broad.mit.edu	37	5	140753848	140753848	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140753848C>A	ENST00000517434.1	+	1	198	c.198C>A	c.(196-198)atC>atA	p.I66I	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I66I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGCATCGTCTCCAGAG	0.592																																							uc003ljy.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	breast(1)	1						c.(196-198)ATC>ATA		protocadherin gamma subfamily A, 6 isoform 1							52.0	59.0	57.0					5																	140753848		2200	4300	6500	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140753848C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.198C>A	5.37:g.140753848C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.I66I	p.I66I	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	198	+			66			Cadherin 1.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.198C>A	CCDS54926.1																																																																																				0.592	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		26	16	1	0	2.48779e-11	0.005443	3.4594e-11	26	16				
PCDHGA6	56109	broad.mit.edu	37	5	140754055	140754056	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140754055_140754056GG>TT	ENST00000517434.1	+	1	405_406	c.405_406GG>TT	c.(403-408)aaGGaa>aaTTaa	p.135_136KE>N*	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	135	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTCTTAAAGGAAGAATTGGA	0.431																																							uc003ljy.1		NA																	0				breast(1)	1						c.(403-408)AAGGAA>AATTAA		protocadherin gamma subfamily A, 6 isoform 1																																				SO:0001587	stop_gained	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754055_140754056GG>TT	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		Exception_encountered	5.37:g.140754055_140754056delinsTT	ENSP00000429601:p.K135_E136delinsN*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.135_136KE>N*	p.135_136KE>N*	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	405_406	+			135_136			Extracellular (Potential).|Cadherin 2.		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	DNP	ENST00000517434.1	37	c.405_406GG>TT	CCDS54926.1																																																																																				0.431	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		16	21	0	0	0	0.004672	0	16	21				
PCDHGC4	56098	broad.mit.edu	37	5	140864778	140864778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140864778G>C	ENST00000306593.1	+	1	38	c.38G>C	c.(37-39)cGg>cCg	p.R13P	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCTGGCGGTGGGCTACC	0.572																																							uc003lky.1		NA																	0				ovary(4)	4						c.(37-39)CGG>CCG		protocadherin gamma subfamily C, 4 isoform 1							52.0	57.0	55.0					5																	140864778		2203	4300	6503	SO:0001583	missense	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140864778G>C	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.38G>C	5.37:g.140864778G>C	ENSP00000306918:p.Arg13Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R13P	p.R13P	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	38	+			13					Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.38G>C	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911117	0.33721	.	.	ENSG00000242419	ENST00000306593	T	0.49139	0.79	4.81	2.91	0.33838	.	.	.	.	.	T	0.31040	0.0784	N	0.17872	0.535	0.20638	N	0.999878	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16364	-1.0405	9	0.38643	T	0.18	.	8.5308	0.33333	0.0958:0.508:0.3963:0.0	.	13;13	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	P	13	ENSP00000306918:R13P	ENSP00000306918:R13P	R	+	2	0	PCDHGC4	140844962	0.991000	0.36638	0.977000	0.42913	0.916000	0.54674	0.152000	0.16302	1.201000	0.43203	0.561000	0.74099	CGG		0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		10	17	0	0	0	0.008291	0	10	17				
POU4F3	5459	broad.mit.edu	37	5	145720006	145720006	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:145720006G>A	ENST00000230732.4	+	2	1105	c.1016G>A	c.(1015-1017)tGa>tAa	p.*339*	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	0					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTCCACTGATTGCGGCAG	0.562																																							uc003loa.2		NA																	0					0						c.(1015-1017)TGA>TAA		POU class 4 homeobox 3							32.0	32.0	32.0					5																	145720006		2201	4299	6500	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145720006G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.1016G>A	5.37:g.145720006G>A							p.*339*	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1105	+			339					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.1016G>A	CCDS4281.1																																																																																				0.562	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		4	17	0	0	0	0.000602	0	4	17				
SPINK5	11005	broad.mit.edu	37	5	147470781	147470781	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:147470781A>C	ENST00000256084.7	+	8	698	c.656A>C	c.(655-657)aAt>aCt	p.N219T	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.N219T|SPINK5_ENST00000398454.1_Missense_Mutation_p.N219T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	219	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGACGAAATGCTGAAAAG	0.333																																							uc003lox.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(655-657)AAT>ACT		serine peptidase inhibitor, Kazal type 5 isoform							96.0	90.0	92.0					5																	147470781		1853	4103	5956	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147470781A>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.656A>C	5.37:g.147470781A>C	ENSP00000256084:p.Asn219Thr					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.N191T|SPINK5_uc010jgr.2_Missense_Mutation_p.N200T|SPINK5_uc003low.2_Missense_Mutation_p.N219T|SPINK5_uc003loy.2_Missense_Mutation_p.N219T	p.N219T	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	729	+			219			Kazal-like 4.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.656A>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563174	0.27915	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.39997	1.05;1.06;1.14;1.06	4.3	2.05	0.26809	.	0.706038	0.12829	N	0.435748	T	0.17874	0.0429	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.29341	0.242;0.018;0.242;0.13	B;B;B;B	0.36766	0.232;0.041;0.158;0.098	T	0.30736	-0.9968	10	0.12766	T	0.61	-8.6344	2.3874	0.04369	0.4946:0.3044:0.201:0.0	.	200;219;219;219	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	T	219;219;200;219	ENSP00000381472:N219T;ENSP00000352936:N219T;ENSP00000421519:N200T;ENSP00000256084:N219T	ENSP00000256084:N219T	N	+	2	0	SPINK5	147450974	0.745000	0.28261	0.293000	0.24932	0.247000	0.25773	0.714000	0.25808	0.502000	0.28037	0.528000	0.53228	AAT		0.333	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		6	9	0	0	0	0.001984	0	6	9				
GALNT10	55568	broad.mit.edu	37	5	153755919	153755919	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:153755919G>C	ENST00000297107.6	+	5	788	c.651G>C	c.(649-651)ctG>ctC	p.L217L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L217L	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	217	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L217L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGAAGGGCTGATAAGGACCC	0.522																																							uc003lvh.2		NA																	1	Substitution - coding silent(1)		cervix(1)	skin(2)	2						c.(649-651)CTG>CTC		GalNAc transferase 10 isoform a							96.0	95.0	96.0					5																	153755919		2203	4300	6503	SO:0001819	synonymous_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755919G>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.651G>C	5.37:g.153755919G>C						GALNT10_uc003lvg.1_Silent_p.L217L|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Intron	p.L217L	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	783	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	217			Catalytic subdomain A.|Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	c.651G>C	CCDS4325.1																																																																																				0.522	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		12	40	0	0	0	0.000978	0	12	40				
KIF4B	285643	broad.mit.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:154394675G>A	ENST00000435029.4	+	1	1416	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478																																							uc010jih.1		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(1)	1						c.(1255-1257)AGG>AAG		kinesin family member 4B							134.0	136.0	135.0					5																	154394675		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394675G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1256G>A	5.37:g.154394675G>A	ENSP00000387875:p.Arg419Lys						p.R419K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1416	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	419			Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1256G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	3.480	-0.106104	0.06924	.	.	ENSG00000226650	ENST00000435029	T	0.51325	0.71	1.61	0.706	0.18133	.	.	.	.	.	T	0.30386	0.0763	L	0.41027	1.25	0.37961	D	0.93298	B	0.19706	0.038	B	0.17979	0.02	T	0.10177	-1.0641	9	0.18276	T	0.48	.	3.8023	0.08763	0.4288:0.0:0.5712:0.0	.	419	Q2VIQ3	KIF4B_HUMAN	K	419	ENSP00000387875:R419K	ENSP00000387875:R419K	R	+	2	0	KIF4B	154374868	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.720000	0.38022	0.244000	0.21351	0.563000	0.77884	AGG		0.478	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			29	44	0	0	0	0.008361	0	29	44				
SGCD	6444	broad.mit.edu	37	5	156074530	156074530	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:156074530C>A	ENST00000435422.3	+	6	1043	c.556C>A	c.(556-558)Ccc>Acc	p.P186T	SGCD_ENST00000337851.4_Missense_Mutation_p.P187T|SGCD_ENST00000447401.1_Missense_Mutation_p.P187T|SGCD_ENST00000517913.1_Missense_Mutation_p.P187T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	186					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGGCAGACCCCTTCAAAGA	0.413																																							uc003lwd.3		NA																	0					0						c.(556-558)CCC>ACC		delta-sarcoglycan isoform 3							84.0	80.0	81.0					5																	156074530		1900	4106	6006	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156074530C>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.556C>A	5.37:g.156074530C>A	ENSP00000403003:p.Pro186Thr					SGCD_uc003lwb.2_Missense_Mutation_p.P187T|SGCD_uc003lwc.3_Missense_Mutation_p.P187T	p.P186T	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	1032	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	186			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.556C>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226883	0.79576	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.986;0.982;1.0	P;P;D	0.87578	0.887;0.82;0.998	D	0.95246	0.8355	10	0.27082	T	0.32	0.0726	18.479	0.90804	0.0:1.0:0.0:0.0	.	186;187;187	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	T	187;186;187;187	ENSP00000429378:P187T;ENSP00000403003:P186T;ENSP00000338343:P187T;ENSP00000408324:P187T	ENSP00000338343:P187T	P	+	1	0	SGCD	156007108	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.557000	0.67313	2.793000	0.96121	0.655000	0.94253	CCC		0.413	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			3	7	1	0	0.004672	0.004672	0.00492473	3	7				
EBF1	1879	broad.mit.edu	37	5	158267100	158267100	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:158267100G>A	ENST00000313708.6	-	7	855	c.573C>T	c.(571-573)ttC>ttT	p.F191F	EBF1_ENST00000380654.4_Silent_p.F168F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F191F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	191					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACATTTGAGGAAAAATTTCA	0.423			T	HMGA2	lipoma																																		uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(571-573)TTC>TTT		early B-cell factor							82.0	87.0	86.0					5																	158267100		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158267100G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.573C>T	5.37:g.158267100G>A						EBF1_uc011ddw.1_Silent_p.F58F|EBF1_uc011ddx.1_Silent_p.F191F|EBF1_uc003lxl.3_Silent_p.F168F	p.F191F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	875	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	191					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.573C>T	CCDS4343.1																																																																																				0.423	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		22	14	0	0	0	0.00278	0	22	14				
GABRG2	2566	broad.mit.edu	37	5	161580243	161580244	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:161580243_161580244CG>TC	ENST00000361925.4	+	9	1493_1494	c.1273_1274CG>TC	c.(1273-1275)CGa>TCa	p.R425S	GABRG2_ENST00000393933.4_Missense_Mutation_p.R330S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R473S|GABRG2_ENST00000356592.3_Missense_Mutation_p.R433S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R433Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|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)	TGAAGATTGTCGAACAGGAGCT	0.47																																							uc003lyz.3		NA																	1	Substitution - Missense(1)		NS(1)	ovary(4)|skin(1)	5						c.(1273-1275)CGA>TCA		gamma-aminobutyric acid A receptor, gamma 2																																				SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580243_161580244CG>TC		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	Exception_encountered	5.37:g.161580243_161580244delinsTC	ENSP00000354651:p.Arg425Ser					GABRG2_uc010jjc.2_Missense_Mutation_p.R473S|GABRG2_uc003lyy.3_Missense_Mutation_p.R433S|GABRG2_uc011dej.1_Missense_Mutation_p.R330S	p.R425S	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1631_1632	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	425			Cytoplasmic (Probable).|Interaction with GABARAP (Potential).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	DNP	ENST00000361925.4	37	c.1273_1274CG>TC	CCDS4358.1																																																																																				0.470	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			48	31	0	0	0	0.004672	0	48	31				
GABRG2	2566	broad.mit.edu	37	5	161580330	161580330	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:161580330T>G	ENST00000361925.4	+	9	1580	c.1360T>G	c.(1360-1362)Tgc>Ggc	p.C454G	GABRG2_ENST00000393933.4_Missense_Mutation_p.C359G|GABRG2_ENST00000414552.2_Missense_Mutation_p.C502G|GABRG2_ENST00000356592.3_Missense_Mutation_p.C462G			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	454					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|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)	CACTGCCTTCTGCCTGTTTAA	0.458																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1360-1362)TGC>GGC		gamma-aminobutyric acid A receptor, gamma 2							270.0	273.0	272.0					5																	161580330		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580330T>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1360T>G	5.37:g.161580330T>G	ENSP00000354651:p.Cys454Gly					GABRG2_uc010jjc.2_Missense_Mutation_p.C502G|GABRG2_uc003lyy.3_Missense_Mutation_p.C462G|GABRG2_uc011dej.1_Missense_Mutation_p.C359G	p.C454G	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1718	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	454			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1360T>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	T	7.431	0.638765	0.14386	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.148926	0.64402	D	0.000009	T	0.58538	0.2129	N	0.00864	-1.135	0.48975	D	0.999735	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.61083	-0.7134	10	0.11485	T	0.65	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	502;454;462	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	G	462;502;454;359	ENSP00000349000:C462G;ENSP00000410732:C502G;ENSP00000354651:C454G;ENSP00000377510:C359G	ENSP00000349000:C462G	C	+	1	0	GABRG2	161512908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.450000	0.60041	2.279000	0.76181	0.533000	0.62120	TGC		0.458	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			34	91	0	0	0	0.00623	0	34	91				
NUDCD2	134492	broad.mit.edu	37	5	162886923	162886923	+	Missense_Mutation	SNP	C	C	G	rs377106622		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:162886923C>G	ENST00000302764.4	-	1	223	c.134G>C	c.(133-135)tGc>tCc	p.C45S	HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000393915.4_5'Flank|HMMR_ENST00000432118.2_5'Flank|NUDCD2_ENST00000519395.1_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.C45S|HMMR_ENST00000353866.3_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	45	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		CTGGAGGCCGCACTGGATATC	0.657																																							uc003lze.2		NA																	0					0						c.(133-135)TGC>TCC		NudC domain containing 2							47.0	59.0	55.0					5																	162886923		2202	4299	6501	SO:0001583	missense	134492					intracellular		g.chr5:162886923C>G	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.134G>C	5.37:g.162886923C>G	ENSP00000304854:p.Cys45Ser					HMMR_uc003lzh.2_5'Flank|HMMR_uc003lzf.2_5'Flank|HMMR_uc003lzg.2_5'Flank|HMMR_uc011dem.1_5'Flank	p.C45S	NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	221	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	45			CS.		B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	c.134G>C	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964968	0.74131	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.46063	0.88;0.88	5.86	5.86	0.93980	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.87547	2.89	0.80722	D	1	P	0.44521	0.837	B	0.33121	0.158	T	0.64685	-0.6349	10	0.87932	D	0	-19.9796	20.1891	0.98225	0.0:1.0:0.0:0.0	.	45	Q8WVJ2	NUDC2_HUMAN	S	45	ENSP00000304854:C45S;ENSP00000430347:C45S	ENSP00000304854:C45S	C	-	2	0	NUDCD2	162819501	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.153000	0.77428	2.778000	0.95560	0.650000	0.86243	TGC		0.657	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		10	55	0	0	0	0.008291	0	10	55				
DOCK2	1794	broad.mit.edu	37	5	169135183	169135183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:169135183G>T	ENST00000256935.8	+	15	1474	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	DOCK2_ENST00000520908.1_5'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	465	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGCAATTTGCGTGGGAGCA	0.463																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1393-1395)TGC>TTC		dedicator of cytokinesis 2							98.0	90.0	93.0					5																	169135183		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169135183G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1394G>T	5.37:g.169135183G>T	ENSP00000256935:p.Cys465Phe					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'UTR|DOCK2_uc010jjl.1_Intron	p.C465F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1474	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	465			DHR-1.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1394G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473002	0.26423	.	.	ENSG00000134516	ENST00000256935	T	0.12465	2.68	5.62	5.62	0.85841	.	0.042413	0.85682	D	0.000000	T	0.17408	0.0418	N	0.05280	-0.08	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.30475	-0.9977	10	0.09843	T	0.71	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	465	Q92608	DOCK2_HUMAN	F	465	ENSP00000256935:C465F	ENSP00000256935:C465F	C	+	2	0	DOCK2	169067761	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.781000	0.99029	2.652000	0.90054	0.462000	0.41574	TGC		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	14	1	0	0.00116845	0.001168	0.00125927	5	14				
DRD1	1812	broad.mit.edu	37	5	174869971	174869971	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:174869971G>T	ENST00000393752.2	-	2	1124	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	44					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V44V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGGCAGCACAGACCAGCGTGT	0.577																																							uc003mcz.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(130-132)GTC>GTA		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						97.0	84.0	88.0					5																	174869971		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869971G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.132C>A	5.37:g.174869971G>T							p.V44V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1077	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	44			Helical; Name=1; (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.132C>A	CCDS4393.1																																																																																				0.577	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		12	23	1	0	6.40141e-05	0.000978	7.21159e-05	12	23				
CDHR2	54825	broad.mit.edu	37	5	176002986	176002986	+	Missense_Mutation	SNP	G	G	C	rs144851381		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:176002986G>C	ENST00000510636.1	+	12	1268	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	CDHR2_ENST00000261944.5_Missense_Mutation_p.E332Q|CDHR2_ENST00000506348.1_Missense_Mutation_p.E332Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACGGGCAGGAGGCCAAGGT	0.577																																							uc003mem.1		NA																	0				ovary(2)	2						c.(994-996)GAG>CAG		protocadherin LKC precursor							97.0	84.0	88.0					5																	176002986		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176002986G>C	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.994G>C	5.37:g.176002986G>C	ENSP00000424565:p.Glu332Gln					CDHR2_uc003men.1_Missense_Mutation_p.E332Q	p.E332Q	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			12	1060	+			332			Extracellular (Potential).|Cadherin 3.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.994G>C	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	3.861	-0.029889	0.07543	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.54071	0.59;0.59;0.59	4.54	2.73	0.32206	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	L	0.31752	0.955	0.09310	N	0.999999	B	0.21071	0.051	B	0.17433	0.018	T	0.22836	-1.0205	9	0.14252	T	0.57	-11.0527	7.733	0.28797	0.0901:0.1805:0.7294:0.0	.	332	Q9BYE9	CDHR2_HUMAN	Q	332	ENSP00000424565:E332Q;ENSP00000261944:E332Q;ENSP00000421078:E332Q	ENSP00000261944:E332Q	E	+	1	0	CDHR2	175935592	0.000000	0.05858	0.783000	0.31826	0.484000	0.33280	-0.321000	0.08018	0.519000	0.28406	-0.275000	0.10095	GAG		0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		8	13	0	0	0	0.00308	0	8	13				
UNC5A	90249	broad.mit.edu	37	5	176304276	176304276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:176304276G>A	ENST00000329542.4	+	9	1736	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	UNC5A_ENST00000261961.3_Missense_Mutation_p.V448M	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	488	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGAAGACGTGAGGTGTGG	0.652																																							uc003mey.2		NA																	0				skin(1)	1						c.(1462-1464)GTG>ATG		netrin receptor Unc5h1 precursor							43.0	43.0	43.0					5																	176304276		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304276G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1462G>A	5.37:g.176304276G>A	ENSP00000332737:p.Val488Met						p.V488M	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1654	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	488			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1462G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566205	0.27915	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	ZU5 (3);	0.073354	0.56097	D	0.000027	T	0.25306	0.0615	N	0.16266	0.395	0.37617	D	0.921145	P	0.40602	0.723	B	0.30251	0.113	T	0.14896	-1.0456	10	0.19590	T	0.45	-16.9	18.5781	0.91162	0.0:0.0:1.0:0.0	.	488	Q6ZN44	UNC5A_HUMAN	M	488;448	ENSP00000332737:V488M;ENSP00000261961:V448M	ENSP00000261961:V448M	V	+	1	0	UNC5A	176236882	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.045000	0.49838	2.496000	0.84212	0.484000	0.47621	GTG		0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		21	18	0	0	0	0.00278	0	21	18				
RNF130	55819	broad.mit.edu	37	5	179393827	179393827	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:179393827C>T	ENST00000261947.4	-	7	1527	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF130_ENST00000521389.1_Missense_Mutation_p.E377K|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Missense_Mutation_p.E377K	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTTGATTTCTCCTGTTCTC	0.587																																					GBM(24;432 554 38471 39699 51728)	GBM(24;432 554 38471 39699 51728)	uc003mll.1		NA																	0				lung(2)|ovary(1)	3						c.(1129-1131)GAA>AAA		ring finger protein 130 precursor							95.0	88.0	90.0					5																	179393827		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179393827C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1129G>A	5.37:g.179393827C>T	ENSP00000261947:p.Glu377Lys					RNF130_uc003mlm.1_Missense_Mutation_p.E377K	p.E377K	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1536	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	377			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000261947.4	37	c.1129G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.424509	0.83667	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.07021	3.46;3.23;3.36	5.26	5.26	0.73747	.	0.275458	0.35739	N	0.003019	T	0.14743	0.0356	L	0.29908	0.895	0.58432	D	0.999999	P;D	0.63046	0.918;0.992	B;P	0.53360	0.351;0.724	T	0.01045	-1.1470	10	0.66056	D	0.02	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	394;377	Q59EL1;Q86XS8	.;GOLI_HUMAN	K	377	ENSP00000429509:E377K;ENSP00000430237:E377K;ENSP00000261947:E377K	ENSP00000261947:E377K	E	-	1	0	RNF130	179326433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.171000	0.71926	2.435000	0.82474	0.491000	0.48974	GAA		0.587	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		11	6	0	0	0	0.000978	0	11	6				
MYLK4	340156	broad.mit.edu	37	6	2679563	2679563	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679563C>G	ENST00000274643.7	-	9	1180	c.838G>C	c.(838-840)Gtt>Ctt	p.V280L	MYLK4_ENST00000268446.5_Missense_Mutation_p.V280L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGAAATGAAACAAAATCATAG	0.448																																							uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.(838-840)GTT>CTT		myosin light chain kinase family, member 4							187.0	190.0	189.0					6																	2679563		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679563C>G		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.838G>C	6.37:g.2679563C>G	ENSP00000274643:p.Val280Leu					MYLK4_uc003mtx.3_5'UTR	p.V280L	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			9	1135	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	280			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.838G>C	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585565	0.66105	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.38560	1.13;1.13	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41294	D	0.000915	T	0.47655	0.1457	L	0.42529	1.33	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	T	0.27640	-1.0068	10	0.33141	T	0.24	.	17.8881	0.88863	0.0:1.0:0.0:0.0	.	280	Q86YV6	MYLK4_HUMAN	L	280	ENSP00000268446:V280L;ENSP00000274643:V280L	ENSP00000268446:V280L	V	-	1	0	MYLK4	2624562	1.000000	0.71417	0.996000	0.52242	0.383000	0.30230	7.818000	0.86416	2.532000	0.85374	0.655000	0.94253	GTT		0.448	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		22	281	0	0	0	0.002522	0	22	281				
MYLK4	340156	broad.mit.edu	37	6	2679576	2679576	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679576C>G	ENST00000274643.7	-	9	1167	c.825G>C	c.(823-825)gtG>gtC	p.V275V	MYLK4_ENST00000268446.5_Silent_p.V275V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AATCATAGTTCACAACTTCAG	0.468																																							uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.(823-825)GTG>GTC		myosin light chain kinase family, member 4							196.0	199.0	198.0					6																	2679576		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679576C>G		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.825G>C	6.37:g.2679576C>G						MYLK4_uc003mtx.3_5'UTR	p.V275V	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			9	1122	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	275			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.825G>C	CCDS34330.1																																																																																				0.468	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	302	0	0	0	0.00361	0	21	302				
MYLK4	340156	broad.mit.edu	37	6	2679608	2679608	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679608C>T	ENST00000274643.7	-	9	1135	c.793G>A	c.(793-795)Gga>Aga	p.G265R	MYLK4_ENST00000268446.5_Missense_Mutation_p.G265R	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCTGGGGTTCCAAAGTTCACC	0.438																																							uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.(793-795)GGA>AGA		myosin light chain kinase family, member 4							200.0	204.0	202.0					6																	2679608		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679608C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.793G>A	6.37:g.2679608C>T	ENSP00000274643:p.Gly265Arg					MYLK4_uc003mtx.3_5'UTR	p.G265R	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			9	1090	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	265			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.793G>A	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088390	0.94100	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.58506	0.33;0.33	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000403	D	0.85839	0.5790	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92069	0.5663	10	0.87932	D	0	.	17.8881	0.88863	0.0:1.0:0.0:0.0	.	265	Q86YV6	MYLK4_HUMAN	R	265	ENSP00000268446:G265R;ENSP00000274643:G265R	ENSP00000268446:G265R	G	-	1	0	MYLK4	2624607	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.532000	0.85374	0.655000	0.94253	GGA		0.438	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	307	0	0	0	0.00361	0	21	307				
MYLK4	340156	broad.mit.edu	37	6	2679643	2679643	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679643C>G	ENST00000274643.7	-	9	1101		c.e9-1		MYLK4_ENST00000268446.5_Missense_Mutation_p.R253T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGGTTTGTATCTGCAATTTAA	0.413																																							uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.e9-1		myosin light chain kinase family, member 4							161.0	165.0	164.0					6																	2679643		2203	4300	6503	SO:0001630	splice_region_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679643C>G		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.759-1G>C	6.37:g.2679643C>G						MYLK4_uc003mtx.3_5'UTR	p.R253_splice	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			9	1056	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)						A2RUC0|Q5TAW2	Splice_Site	SNP	ENST00000274643.7	37	c.759_splice	CCDS34330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.753005|3.753005	0.69648|0.69648	.|.	.|.	ENSG00000145949|ENSG00000145949	ENST00000274643|ENST00000268446	.|T	.|0.64260	.|-0.09	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67906	.|0.2943	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66472	.|-0.5915	.|5	.|.	.|.	.|.	.|.	17.8881|17.8881	0.88863|0.88863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|T	-1|253	.|ENSP00000268446:R253T	.|.	.|R	-|-	.|2	.|0	MYLK4|MYLK4	2624642|2624642	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.659000|0.659000	0.38960|0.38960	7.818000|7.818000	0.86416|0.86416	2.532000|2.532000	0.85374|0.85374	0.655000|0.655000	0.94253|0.94253	.|AGA		0.413	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	Intron	32	251	0	0	0	0.009718	0	32	251				
MYLK4	340156	broad.mit.edu	37	6	2693048	2693048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2693048C>A	ENST00000274643.7	-	3	547	c.205G>T	c.(205-207)Gtc>Ttc	p.V69F	MYLK4_ENST00000268446.5_Missense_Mutation_p.V69F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	69						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTGCTTTTGACGGGCATCCTT	0.433																																							uc003mty.3		NA																	0				breast(3)|ovary(1)	4						c.(205-207)GTC>TTC		myosin light chain kinase family, member 4							120.0	96.0	104.0					6																	2693048		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2693048C>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.205G>T	6.37:g.2693048C>A	ENSP00000274643:p.Val69Phe						p.V69F	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			3	502	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	69					A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.205G>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305413	0.40795	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.67865	0.03;-0.29	5.39	2.6	0.31112	.	.	.	.	.	T	0.30978	0.0782	L	0.36672	1.1	0.09310	N	1	P	0.52577	0.954	B	0.42851	0.4	T	0.04481	-1.0948	9	0.16896	T	0.51	.	5.1105	0.14806	0.0:0.6434:0.1735:0.1832	.	69	Q86YV6	MYLK4_HUMAN	F	69	ENSP00000268446:V69F;ENSP00000274643:V69F	ENSP00000268446:V69F	V	-	1	0	MYLK4	2638047	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	0.435000	0.21510	0.760000	0.33108	0.655000	0.94253	GTC		0.433	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		11	31	1	0	2.62699e-14	0.003163	3.97911e-14	11	31				
TUBB2B	347733	broad.mit.edu	37	6	3226399	3226399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:3226399C>T	ENST00000259818.7	-	3	462	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	91					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACCAAACACGAAATTGTCT	0.532																																							uc003mvg.2		NA																	0				large_intestine(1)	1						c.(271-273)GTG>ATG		tubulin, beta 2B							106.0	92.0	97.0					6																	3226399		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226399C>T	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.271G>A	6.37:g.3226399C>T	ENSP00000259818:p.Val91Met					uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Intron|TUBB2B_uc010jnk.2_Missense_Mutation_p.V19M|TUBB2B_uc003mvh.2_Silent_p.S65S	p.V91M	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN			3	462	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	91					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.271G>A	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726169	0.48833	.	.	ENSG00000137285	ENST00000259818	T	0.71461	-0.57	5.31	5.31	0.75309	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000020	D	0.84133	0.5405	M	0.92604	3.325	0.80722	D	1	P	0.44380	0.834	P	0.55011	0.766	D	0.87603	0.2498	10	0.87932	D	0	.	18.9727	0.92721	0.0:1.0:0.0:0.0	.	91	Q9BVA1	TBB2B_HUMAN	M	91	ENSP00000259818:V91M	ENSP00000259818:V91M	V	-	1	0	TUBB2B	3171398	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	5.981000	0.70524	2.471000	0.83476	0.563000	0.77884	GTG		0.532	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		27	29	0	0	0	0.009535	0	27	29				
RANBP9	10048	broad.mit.edu	37	6	13697085	13697085	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403																																							uc003nbb.2		NA																	0				lung(1)|skin(1)	2						c.(613-615)ACG>ACA		RAN binding protein 9							100.0	105.0	103.0					6																	13697085		2203	4299	6502	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13697085C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.615G>A	6.37:g.13697085C>T						RANBP9_uc003nba.2_5'UTR	p.T205T	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		2	674	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	205			B30.2/SPRY.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.615G>A	CCDS4529.1																																																																																				0.403	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			18	411	0	0	0	0.010504	0	18	411				
DEK	7913	broad.mit.edu	37	6	18236822	18236822	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:18236822G>C	ENST00000397239.3	-	9	1355	c.908C>G	c.(907-909)tCt>tGt	p.S303C	DEK_ENST00000244776.7_Missense_Mutation_p.S269C	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	303	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ACTATCCTCAGACTCACTTTC	0.289			T	NUP214	AML																																		uc003ncr.1		NA		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				kidney(1)	1						c.(907-909)TCT>TGT		DEK oncogene isoform 1							51.0	53.0	53.0					6																	18236822		2199	4294	6493	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18236822G>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.908C>G	6.37:g.18236822G>C	ENSP00000380414:p.Ser303Cys					DEK_uc011djf.1_Missense_Mutation_p.S269C|DEK_uc011djg.1_RNA	p.S303C	NM_003472	NP_003463	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		9	1101	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	303			Asp/Glu-rich (acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.908C>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289880	0.80914	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.47869	0.83;0.83	5.74	5.74	0.90152	.	0.380721	0.30528	N	0.009431	T	0.52370	0.1730	M	0.64997	1.995	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.51487	0.671;0.671	T	0.54016	-0.8356	10	0.62326	D	0.03	-10.4462	20.2982	0.98569	0.0:0.0:1.0:0.0	.	269;303	B4DN37;P35659	.;DEK_HUMAN	C	303;269;79	ENSP00000380414:S303C;ENSP00000244776:S269C	ENSP00000244776:S269C	S	-	2	0	DEK	18344801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.506000	0.81665	2.873000	0.98535	0.563000	0.77884	TCT		0.289	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			5	42	0	0	0	0.000602	0	5	42				
LRRC16A	55604	broad.mit.edu	37	6	25581506	25581506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:25581506G>T	ENST00000329474.6	+	31	3213	c.2845G>T	c.(2845-2847)Gta>Tta	p.V949L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	949					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGGAAGAGGTACCAATTCA	0.443																																							uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2845-2847)GTA>TTA		leucine rich repeat containing 16A							42.0	42.0	42.0					6																	25581506		1818	4078	5896	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25581506G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2845G>T	6.37:g.25581506G>T	ENSP00000331983:p.Val949Leu					LRRC16A_uc010jpx.2_Missense_Mutation_p.V949L|LRRC16A_uc010jpy.2_Missense_Mutation_p.V949L	p.V949L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			31	3221	+			949					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2845G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561286	0.65538	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.56275	0.47	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.81914	0.99;0.99;0.995	T	0.58200	-0.7678	10	0.02654	T	1	-20.2424	19.6832	0.95971	0.0:0.0:1.0:0.0	.	949;949;949	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	L	949	ENSP00000331983:V949L	ENSP00000331983:V949L	V	+	1	0	LRRC16A	25689485	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.230000	0.78097	2.631000	0.89168	0.467000	0.42956	GTA		0.443	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		34	14	1	0	4.62619e-21	0.004289	8.02764e-21	34	14				
HIST1H3D	8351	broad.mit.edu	37	6	26197189	26197189	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:26197189C>T	ENST00000356476.2	-	1	289	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.C97Y			P68431	H31_HUMAN	histone cluster 1, H3d	97					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GTAGGCCTCGCAGGCCTCCTG	0.597																																					GBM(108;3816 4467)	GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(289-291)TGC>TAC		histone cluster 1, H3d							81.0	76.0	78.0					6																	26197189		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197189C>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.290G>A	6.37:g.26197189C>T	ENSP00000366999:p.Cys97Tyr					HIST1H2BF_uc003ngx.2_5'Flank	p.C97Y	NM_003530	NP_003521	P68431	H31_HUMAN			2	687	-		all_hematologic(11;0.196)	97					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.290G>A	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287974	0.40494	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.68479	-0.33;-0.33	4.28	3.38	0.38709	.	.	.	.	.	T	0.68183	0.2973	.	.	.	0.38754	D	0.954167	.	.	.	.	.	.	T	0.73658	-0.3913	6	0.87932	D	0	.	13.2248	0.59909	0.0:0.8389:0.1611:0.0	.	.	.	.	Y	97	ENSP00000366999:C97Y;ENSP00000367062:C97Y	ENSP00000366999:C97Y	C	-	2	0	HIST1H3D	26305168	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.578000	0.60929	0.864000	0.35578	0.655000	0.94253	TGC		0.597	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		40	55	0	0	0	0.009718	0	40	55				
HIST1H2BN	8341	broad.mit.edu	37	6	27806487	27806487	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:27806487G>A	ENST00000396980.3	+	1	48	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BN_ENST00000606613.1_Silent_p.K16K|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	16					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGGCTCCAAGAAGGCAGTGA	0.562																																							uc003njv.2		NA																	0					0						c.(46-48)AAG>AAA		histone cluster 1, H2bn							114.0	114.0	114.0					6																	27806487		2203	4300	6503	SO:0001819	synonymous_variant	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806487G>A	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.48G>A	6.37:g.27806487G>A						HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.K16K	p.K16K	NM_003520	NP_003511	Q99877	H2B1N_HUMAN			1	48	+			16					B2R5L4|Q494S8|Q96FB7	Silent	SNP	ENST00000396980.3	37	c.48G>A	CCDS4633.1																																																																																				0.562	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		30	149	0	0	0	0.007291	0	30	149				
NKAPL	222698	broad.mit.edu	37	6	28227326	28227326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:28227326C>A	ENST00000343684.3	+	1	229	c.177C>A	c.(175-177)gaC>gaA	p.D59E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	59										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGAGTTGGACGTGGGCGCTC	0.637																																							uc003nkt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(175-177)GAC>GAA		NFKB activating protein-like							54.0	58.0	57.0					6																	28227326		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227326C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.177C>A	6.37:g.28227326C>A	ENSP00000345716:p.Asp59Glu					ZKSCAN4_uc011dlb.1_5'Flank	p.D59E	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	229	+			59					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.177C>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225970	0.39300	.	.	ENSG00000189134	ENST00000343684	T	0.12984	2.63	4.35	2.49	0.30216	.	0.812782	0.11194	N	0.589556	T	0.02455	0.0075	L	0.43152	1.355	0.09310	N	1	B	0.26602	0.154	B	0.21151	0.033	T	0.46456	-0.9190	10	0.06494	T	0.89	-0.2652	5.7998	0.18408	0.0:0.6963:0.1971:0.1067	.	59	Q5M9Q1	NKAPL_HUMAN	E	59	ENSP00000345716:D59E	ENSP00000345716:D59E	D	+	3	2	NKAPL	28335305	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.932000	0.03963	0.548000	0.28955	0.655000	0.94253	GAC		0.637	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			33	52	1	0	5.91797e-21	0.002445	1.02569e-20	33	52				
MAS1L	116511	broad.mit.edu	37	6	29455569	29455569	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:29455569C>T	ENST00000377127.3	-	1	169	c.111G>A	c.(109-111)gaG>gaA	p.E37E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	37					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGTTCTGTGCCTCCTGGTCAC	0.493																																					NSCLC(153;755 1987 3859 11251 32945)	NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(109-111)GAG>GAA		MAS1 oncogene-like							83.0	85.0	84.0					6																	29455569		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455569C>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.111G>A	6.37:g.29455569C>T							p.E37E	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	111	-			37			Extracellular (Potential).		Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.111G>A	CCDS4661.1																																																																																				0.493	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		7	67	0	0	0	0.001984	0	7	67				
PPP1R10	5514	broad.mit.edu	37	6	30570015	30570015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30570015C>A	ENST00000376511.2	-	19	2963	c.2411G>T	c.(2410-2412)gGc>gTc	p.G804V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	804	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GATGCCACCGCCAGGGCCTTC	0.687																																							uc003nqn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2410-2412)GGC>GTC		protein phosphatase 1, regulatory subunit 10							156.0	160.0	158.0					6																	30570015		1510	2709	4219	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570015C>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2411G>T	6.37:g.30570015C>A	ENSP00000365694:p.Gly804Val					PPP1R10_uc010jsc.1_Missense_Mutation_p.G458V	p.G804V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			19	2963	-			804			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2411G>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980022	0.18812	.	.	ENSG00000204569	ENST00000376511	T	0.46063	0.88	3.32	3.32	0.38043	.	.	.	.	.	T	0.30759	0.0775	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	T	0.45934	-0.9227	9	0.72032	D	0.01	-4.2983	13.8588	0.63548	0.0:1.0:0.0:0.0	.	804	Q96QC0	PP1RA_HUMAN	V	804	ENSP00000365694:G804V	ENSP00000365694:G804V	G	-	2	0	PPP1R10	30677994	0.865000	0.29922	0.837000	0.33122	0.810000	0.45777	2.305000	0.43664	1.829000	0.53265	0.491000	0.48974	GGC		0.687	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		122	69	1	0	5.49952e-60	0.00361	1.06162e-59	122	69				
DHX16	8449	broad.mit.edu	37	6	30638193	30638193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30638193C>A	ENST00000376442.3	-	4	855	c.660G>T	c.(658-660)aaG>aaT	p.K220N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	220					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K220N(1)|p.K220_A221>NS(1)		kidney(2)|ovary(2)	4						TCACCATGGCCTTCCGGTCTT	0.517																																							uc003nqz.2		NA																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(2)|kidney(2)	4						c.(658-660)AAG>AAT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							34.0	34.0	34.0					6																	30638193		1509	2707	4216	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638193C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.660G>T	6.37:g.30638193C>A	ENSP00000365625:p.Lys220Asn					DHX16_uc011dmo.1_Missense_Mutation_p.K160N	p.K220N	NM_003587	NP_003578	O60231	DHX16_HUMAN			4	872	-			220					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.660G>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950799	0.34471	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.49720	0.77;0.77	4.94	1.18	0.20946	.	0.167400	0.52532	D	0.000078	T	0.14657	0.0354	N	0.25647	0.755	0.80722	D	1	B;B	0.16396	0.017;0.007	B;B	0.14578	0.011;0.007	T	0.06127	-1.0844	10	0.35671	T	0.21	.	8.2152	0.31507	0.0:0.251:0.0:0.749	.	160;220	B4DZ28;O60231	.;DHX16_HUMAN	N	220;160	ENSP00000365625:K220N;ENSP00000399101:K160N	ENSP00000365625:K220N	K	-	3	2	DHX16	30746172	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	1.809000	0.38922	0.050000	0.15949	-0.391000	0.06502	AAG		0.517	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		7	45	1	0	8.12818e-05	0.001984	9.09297e-05	7	45				
MDC1	9656	broad.mit.edu	37	6	30673379	30673379	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30673379G>C	ENST00000376406.3	-	10	4228	c.3581C>G	c.(3580-3582)tCc>tGc	p.S1194C	MDC1_ENST00000376405.2_Missense_Mutation_p.S930C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1194	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTGACAGAGGATCTACTTTT	0.582								Other conserved DNA damage response genes																															uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3580-3582)TCC>TGC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							157.0	170.0	166.0					6																	30673379		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673379G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3581C>G	6.37:g.30673379G>C	ENSP00000365588:p.Ser1194Cys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S801C	p.S1194C	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4021	-			1194	Missing (in Ref. 2; CAH18685).		Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3581C>G	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.75|11.75	1.731472|1.731472	0.30684|0.30684	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000417033|ENST00000376406;ENST00000376405;ENST00000422104	.|T;T	.|0.09255	.|3.0;3.0	2.91|2.91	2.91|2.91	0.33838|0.33838	.|.	.|.	.|.	.|.	.|.	T|T	0.12902|0.12902	0.0313|0.0313	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	.|D;D	.|0.64830	.|0.994;0.978	.|P;P	.|0.59012	.|0.85;0.57	T|T	0.03534|0.03534	-1.1027|-1.1027	5|9	.|0.59425	.|D	.|0.04	.|.	9.527|9.527	0.39171|0.39171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|930;1194	.|Q14676-2;Q14676	.|.;MDC1_HUMAN	M|C	254|1194;930;801	.|ENSP00000365588:S1194C;ENSP00000365587:S930C	.|ENSP00000365587:S930C	I|S	-|-	3|2	3|0	MDC1|MDC1	30781358|30781358	0.007000|0.007000	0.16637|0.16637	0.515000|0.515000	0.27774|0.27774	0.018000|0.018000	0.09664|0.09664	1.176000|1.176000	0.31957|0.31957	1.944000|1.944000	0.56390|0.56390	0.478000|0.478000	0.44815|0.44815	ATC|TCC		0.582	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		59	211	0	0	0	0.00361	0	59	211				
TNXB	7148	broad.mit.edu	37	6	32024401	32024401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32024401C>A	ENST00000375244.3	-	23	8306	c.8105G>T	c.(8104-8106)gGc>gTc	p.G2702V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2702V			P22105	TENX_HUMAN	tenascin XB	2762	Fibronectin type-III 19. {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						CACGCGCTGGCCACCGTGGAA	0.647																																							uc003nzl.2		NA																	0					0						c.(8104-8106)GGC>GTC		tenascin XB isoform 1 precursor							35.0	39.0	37.0					6																	32024401		1236	2530	3766	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.chr6:32024401C>A	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.8105G>T	6.37:g.32024401C>A	ENSP00000364393:p.Gly2702Val						p.G2702V	NM_019105	NP_061978	P22105	TENX_HUMAN			23	8307	-			2762			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8105G>T		.	.	.	.	.	.	.	.	.	.	C	11.30	1.596799	0.28445	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.43;0.43	4.61	2.8	0.32819	.	0.135223	0.34245	N	0.004121	T	0.59445	0.2194	M	0.92604	3.325	0.24497	N	0.994273	D	0.89917	1.0	D	0.87578	0.998	T	0.52056	-0.8626	10	0.24483	T	0.36	.	4.2107	0.10510	0.0:0.5962:0.1934:0.2104	.	2702	P22105-3	.	V	2702	ENSP00000364393:G2702V;ENSP00000364396:G2702V	ENSP00000364393:G2702V	G	-	2	0	TNXB	32132379	0.010000	0.17322	0.860000	0.33809	0.146000	0.21551	0.301000	0.19174	0.923000	0.37045	0.306000	0.20318	GGC		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		19	17	1	0	2.98393e-07	0.00278	3.65887e-07	19	17				
TNXB	7148	broad.mit.edu	37	6	32025888	32025888	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32025888T>A	ENST00000375244.3	-	22	7973	c.7772A>T	c.(7771-7773)tAc>tTc	p.Y2591F	TNXB_ENST00000375247.2_Missense_Mutation_p.Y2591F			P22105	TENX_HUMAN	tenascin XB	2651	Fibronectin type-III 18. {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						GTGGAGGCCGTACAGGTGCAT	0.677																																							uc003nzl.2		NA																	0					0						c.(7771-7773)TAC>TTC		tenascin XB isoform 1 precursor							45.0	54.0	51.0					6																	32025888		1313	2563	3876	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.chr6:32025888T>A	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.7772A>T	6.37:g.32025888T>A	ENSP00000364393:p.Tyr2591Phe						p.Y2591F	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7974	-			2651			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7772A>T		.	.	.	.	.	.	.	.	.	.	T	15.33	2.802038	0.50315	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.4;0.4	4.13	4.13	0.48395	.	0.000000	0.39985	N	0.001213	T	0.53286	0.1787	M	0.69358	2.11	0.26090	N	0.980978	D	0.56035	0.974	D	0.70487	0.969	T	0.43491	-0.9388	10	0.25751	T	0.34	.	10.835	0.46681	0.0:0.0:0.0:1.0	.	2591	P22105-3	.	F	2591	ENSP00000364393:Y2591F;ENSP00000364396:Y2591F	ENSP00000364393:Y2591F	Y	-	2	0	TNXB	32133866	0.944000	0.32072	0.972000	0.41901	0.711000	0.40976	2.045000	0.41250	1.738000	0.51689	0.477000	0.44152	TAC		0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		13	63	0	0	0	0.001855	0	13	63				
NOTCH4	4855	broad.mit.edu	37	6	32168650	32168650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32168650G>T	ENST00000375023.3	-	23	4411	c.4273C>A	c.(4273-4275)Ctg>Atg	p.L1425M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1425					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCAGGCAGCAGGGGCTCC	0.652																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4273-4275)CTG>ATG		notch4 preproprotein							37.0	29.0	32.0					6																	32168650		1509	2708	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32168650G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4273C>A	6.37:g.32168650G>T	ENSP00000364163:p.Leu1425Met					NOTCH4_uc003oba.2_Missense_Mutation_p.L88M|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.L1425M	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			23	4412	-			1425			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4273C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518765	0.44763	.	.	ENSG00000204301	ENST00000375023	T	0.35421	1.31	4.74	2.91	0.33838	Notch, NODP domain (1);	0.248216	0.20948	N	0.082802	T	0.25269	0.0614	N	0.14661	0.345	0.80722	D	1	P;D	0.89917	0.657;1.0	P;D	0.75484	0.655;0.986	T	0.10177	-1.0641	10	0.54805	T	0.06	.	7.5439	0.27755	0.2012:0.0:0.7988:0.0	.	1425;1424	Q99466;B0S882	NOTC4_HUMAN;.	M	1425	ENSP00000364163:L1425M	ENSP00000364163:L1425M	L	-	1	2	NOTCH4	32276628	0.781000	0.28676	0.971000	0.41717	0.837000	0.47467	0.921000	0.28718	1.258000	0.44101	-0.390000	0.06520	CTG		0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	22	1	0	3.59834e-05	0.001168	4.10182e-05	5	22				
BTNL2	56244	broad.mit.edu	37	6	32363858	32363858	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32363858C>T	ENST00000374993.1	-	5	1035	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	BTNL2_ENST00000540315.1_Missense_Mutation_p.D136N|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Missense_Mutation_p.D252N|BTNL2_ENST00000429232.2_Missense_Mutation_p.D253N|BTNL2_ENST00000454136.3_Missense_Mutation_p.D346N|BTNL2_ENST00000414363.1_Missense_Mutation_p.D136N|BTNL2_ENST00000544175.1_Missense_Mutation_p.D69N	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	346	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TAGACATCATCTTTTTCAAAA	0.473																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(1036-1038)GAT>AAT		butyrophilin-like 2							90.0	92.0	91.0					6																	32363858		1510	2707	4217	SO:0001583	missense	56244					integral to membrane		g.chr6:32363858C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1036G>A	6.37:g.32363858C>T	ENSP00000364132:p.Asp346Asn					BTNL2_uc010jty.1_Missense_Mutation_p.D69N|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.D136N	p.D346N	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			5	1036	-			346			Extracellular (Potential).|Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1036G>A		.	.	.	.	.	.	.	.	.	.	c	16.68	3.190007	0.58017	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175;ENST00000429232	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;4.2;-0.03	5.2	3.28	0.37604	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130470	0.35349	N	0.003265	T	0.36963	0.0986	L	0.41124	1.26	0.23113	N	0.998278	D;P	0.52996	0.957;0.756	P;P	0.45971	0.491;0.499	T	0.26677	-1.0096	10	0.87932	D	0	.	5.7462	0.18122	0.0:0.7051:0.0:0.2949	.	136;346	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	N	346;252;136;346;136;69;253	ENSP00000364134:D252N;ENSP00000390512:D136N;ENSP00000364132:D346N;ENSP00000444714:D136N;ENSP00000443364:D69N;ENSP00000411166:D253N	ENSP00000364132:D346N	D	-	1	0	BTNL2	32471836	0.001000	0.12720	1.000000	0.80357	0.369000	0.29798	0.427000	0.21379	1.461000	0.47929	0.627000	0.83407	GAT		0.473	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		13	95	0	0	0	0.00245	0	13	95				
HLA-DQB1	3119	broad.mit.edu	37	6	32629998	32629998	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32629998G>C	ENST00000399082.3	-	2	181	c.137C>G	c.(136-138)tCc>tGc	p.S46C	HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000460185.1_5'Flank|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.S136C			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	136	Beta-1.		M -> L (in allele DQB1*03:11, allele DQB1*03:26, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:04, allele DQB1*05:05, allele DQB1*06:05, allele DQB1*06:20 and allele DQB1*06:31; dbSNP:rs1130368).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	CTCTGTCCTGGATGGGGAGAT	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	Esophageal Squamous(151;720 1825 15000 40336 43415)	uc003obw.2		NA																	0					0						c.(406-408)TCC>TGC		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						22.0	21.0	21.0					6																	32629998		1912	4022	5934	SO:0001583	missense	3119	Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32629998G>C		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.137C>G	6.37:g.32629998G>C	ENSP00000382032:p.Ser46Cys					HLA-DQB1_uc010juc.1_Missense_Mutation_p.S91C|HLA-DQB1_uc003obv.2_Missense_Mutation_p.S136C|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.S136C|HLA-DQB1_uc011dqe.1_Intron	p.S136C	NM_002123	NP_002114	P01920	DQB1_HUMAN			3	489	-			136			Extracellular (Potential).|Beta-2.|Ig-like C1-type.		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37	c.407C>G		.	.	.	.	.	.	.	.	.	.	.	12.15	1.850723	0.32699	.	.	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.00625	6.14;6.14;6.14;6.14;6.14	4.52	4.52	0.55395	.	0.530450	0.17675	N	0.165828	T	0.01765	0.0056	M	0.87456	2.885	0.31162	N	0.70428	D;D;D;D	0.61697	0.983;0.957;0.957;0.99	P;P;P;P	0.60789	0.724;0.615;0.724;0.879	T	0.11817	-1.0572	10	0.62326	D	0.03	.	14.7292	0.69368	0.0:0.0:1.0:0.0	.	136;101;136;136	A2AAZ0;A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.;.	C	46;136;136;136;136;72	ENSP00000382032:S46C;ENSP00000382029:S136C;ENSP00000364080:S136C;ENSP00000407332:S136C;ENSP00000382034:S136C	ENSP00000364080:S136C	S	-	2	0	HLA-DQB1	32737976	0.019000	0.18553	0.617000	0.29091	0.663000	0.39108	2.058000	0.41374	2.065000	0.61736	0.313000	0.20887	TCC		0.532	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		19	59	0	0	0	0.001882	0	19	59				
COL11A2	1302	broad.mit.edu	37	6	33139529	33139529	+	Silent	SNP	C	C	A	rs146093235	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:33139529C>A	ENST00000374708.4	-	40	3111	c.2853G>T	c.(2851-2853)ccG>ccT	p.P951P	COL11A2_ENST00000341947.2_Silent_p.P1037P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.P990P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000395197.1_Silent_p.P977P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000357486.1_Silent_p.P1016P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1037	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGACCCTGCGGGCCTGGGC	0.657													C|||	32	0.00638978	0.0	0.0	5008	,	,		13215	0.0079		0.0	False		,,,				2504	0.0245				Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(3109-3111)CCG>CCT		collagen, type XI, alpha 2 isoform 1		C	,,	5,3017		0,5,1506	23.0	25.0	24.0		2790,3111,2853	-4.5	1.0	6	dbSNP_134	24	1,5417		0,1,2708	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,6,4214	AA,AC,CC		0.0185,0.1655,0.0711	,,	930/1630,1037/1737,951/1651	33139529	6,8434	1511	2709	4220	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139529C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2853G>T	6.37:g.33139529C>A						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P951P|COL11A2_uc003ocz.1_Silent_p.P930P	p.P1037P	NM_080680	NP_542411	P13942	COBA2_HUMAN			42	3339	-			1037			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.3111G>T	CCDS43452.1																																																																																				0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			27	15	1	0	8.88839e-20	0.002096	1.50612e-19	27	15				
LYPLA2P1	653639	broad.mit.edu	37	6	33333340	33333340	+	IGR	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:33333340C>A								DAXX (42549 upstream) : KIFC1 (25972 downstream)																							CAGGAGGCAGCAGCTTCTCAA	0.562																																							uc003shx.2		NA																	0					0						c.(664-666)CTG>CTT		SubName: Full=Lysophospholipase II; Flags: Fragment;																																				SO:0001628	intergenic_variant	653639							g.chr6:33333340C>A																													6.37:g.33333340C>A							p.L222L	NR_001444						1	800	-									Silent	SNP		37	c.666G>T																																																																																				0	0.562									18	7	1	0	2.37509e-13	0.010504	3.5127e-13	18	7				
LEMD2	221496	broad.mit.edu	37	6	33744940	33744940	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:33744940C>A	ENST00000293760.5	-	7	1252	c.1233G>T	c.(1231-1233)atG>atT	p.M411I	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.M109I	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	411					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCATCTCATACATGGCTTGTT	0.498																																							uc011drm.1		NA																	0				central_nervous_system(1)	1						c.(1231-1233)ATG>ATT		LEM domain containing 2 isoform 1							222.0	236.0	231.0					6																	33744940		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744940C>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1233G>T	6.37:g.33744940C>A	ENSP00000293760:p.Met411Ile					LEMD2_uc010jvg.2_Missense_Mutation_p.M120I|LEMD2_uc011drl.1_Missense_Mutation_p.M109I|LEMD2_uc003ofe.2_Missense_Mutation_p.M109I	p.M411I	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			7	1246	-			411					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1233G>T	CCDS4785.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.8|20.8|20.8	4.055001|4.055001|4.055001	0.75960|0.75960|0.75960	.|.|.	.|.|.	ENSG00000161904|ENSG00000161904|ENSG00000161904	ENST00000442696|ENST00000293760;ENST00000508327|ENST00000504692	.|.|.	.|.|.	.|.|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	.|Inner nuclear membrane protein MAN1 (1);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|T	0.66268|0.66268|0.66268	0.2772|0.2772|0.2772	L|L|L	0.55743|0.55743|0.55743	1.74|1.74|1.74	0.45676|0.45676|0.45676	D|D|D	0.998595|0.998595|0.998595	.|P;B|.	.|0.40083|.	.|0.702;0.368|.	.|P;P|.	.|0.58013|.	.|0.831;0.479|.	T|T|T	0.61481|0.61481|0.61481	-0.7054|-0.7054|-0.7054	5|9|5	.|0.18276|.	.|T|.	.|0.48|.	-9.2141|-9.2141|-9.2141	20.0139|20.0139|20.0139	0.97470|0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|411;372|.	.|Q8NC56;A8MS91|.	.|LEMD2_HUMAN;.|.	F|I|L	277|411;109|59	.|.|.	.|ENSP00000293760:M411I|.	C|M|V	-|-|-	2|3|1	0|0|0	LEMD2|LEMD2|LEMD2	33852918|33852918|33852918	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.948000|0.948000|0.948000	0.59901|0.59901|0.59901	4.711000|4.711000|4.711000	0.61881|0.61881|0.61881	2.724000|2.724000|2.724000	0.93272|0.93272|0.93272	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TGT|ATG|GTA		0.498	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		114	180	1	0	1.08021e-59	0.00361	2.08243e-59	114	180				
UHRF1BP1	54887	broad.mit.edu	37	6	34789481	34789481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:34789481G>A	ENST00000192788.5	+	2	267	c.96G>A	c.(94-96)ggG>ggA	p.G32G	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Silent_p.G32G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	32							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCTGAAAGGGGAGGGTCAGC	0.478																																							uc003oju.3		NA																	0				ovary(3)	3						c.(94-96)GGG>GGA		ICBP90 binding protein 1							60.0	61.0	61.0					6																	34789481		1907	4130	6037	SO:0001819	synonymous_variant	54887							g.chr6:34789481G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.96G>A	6.37:g.34789481G>A						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.G32G	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			2	330	+			32					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.96G>A	CCDS43455.1																																																																																				0.478	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		48	51	0	0	0	0.00361	0	48	51				
DEF6	50619	broad.mit.edu	37	6	35277470	35277470	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:35277470G>T	ENST00000316637.5	+	2	125	c.120G>T	c.(118-120)acG>acT	p.T40T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	40						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ACCTGTACACGGTCCTGCACA	0.587																																							uc003okk.2		NA																	0					0						c.(118-120)ACG>ACT		differentially expressed in FDCP 6 homolog							176.0	135.0	149.0					6																	35277470		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35277470G>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.120G>T	6.37:g.35277470G>T						DEF6_uc010jvs.2_Silent_p.T40T|DEF6_uc010jvt.2_5'UTR	p.T40T	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			2	159	+			40					Q86VF4	Silent	SNP	ENST00000316637.5	37	c.120G>T	CCDS4802.1																																																																																				0.587	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		66	31	1	0	5.98616e-33	0.00361	1.12104e-32	66	31				
C6orf222	389384	broad.mit.edu	37	6	36290124	36290124	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:36290124C>G	ENST00000437635.2	-	9	1744	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	523										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGCCCCTTCTGGCGTGTGG	0.587																																							uc003oly.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1567-1569)GAA>CAA		hypothetical protein LOC389384							147.0	121.0	130.0					6																	36290124		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36290124C>G		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1567G>C	6.37:g.36290124C>G	ENSP00000418983:p.Glu523Gln						p.E523Q	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			9	1745	-			523					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1567G>C	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610021	0.66558	.	.	ENSG00000189325	ENST00000437635	T	0.52057	0.68	3.73	3.73	0.42828	.	0.255793	0.28156	N	0.016396	T	0.52709	0.1751	M	0.72894	2.215	0.24107	N	0.995853	D	0.76494	0.999	D	0.68943	0.961	T	0.34875	-0.9811	10	0.49607	T	0.09	-17.2079	11.3399	0.49527	0.0:1.0:0.0:0.0	.	523	P0C671	CF222_HUMAN	Q	523	ENSP00000418983:E523Q	ENSP00000418983:E523Q	E	-	1	0	C6orf222	36398102	0.996000	0.38824	0.589000	0.28718	0.113000	0.19764	3.018000	0.49625	2.382000	0.81193	0.563000	0.77884	GAA		0.587	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		76	58	0	0	0	0.00361	0	76	58				
GLP1R	2740	broad.mit.edu	37	6	39046924	39046924	+	Missense_Mutation	SNP	G	G	C	rs201235247		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:39046924G>C	ENST00000373256.4	+	10	1034	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	331					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CATCTGCATCGTGGTATCCAA	0.562																																							uc003ooj.3		NA																	0				lung(3)|breast(1)|pancreas(1)	5						c.(991-993)GTG>CTG		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						138.0	136.0	137.0					6																	39046924		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39046924G>C		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.991G>C	6.37:g.39046924G>C	ENSP00000362353:p.Val331Leu					GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.V331L	NM_002062	NP_002053	P43220	GLP1R_HUMAN			10	1051	+			331			Cytoplasmic (Potential).		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.991G>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	G	4.187	0.033273	0.08101	.	.	ENSG00000112164	ENST00000373256	T	0.34072	1.38	5.02	2.93	0.34026	GPCR, family 2-like (1);	0.501902	0.18312	N	0.145095	T	0.01627	0.0052	N	0.00272	-1.73	0.28551	N	0.911629	B	0.12630	0.006	B	0.14578	0.011	T	0.45411	-0.9263	10	0.02654	T	1	.	4.168	0.10315	0.5307:0.0:0.4693:0.0	.	331	P43220	GLP1R_HUMAN	L	331	ENSP00000362353:V331L	ENSP00000362353:V331L	V	+	1	0	GLP1R	39154902	0.858000	0.29795	0.977000	0.42913	0.977000	0.68977	1.539000	0.36104	1.106000	0.41623	0.462000	0.41574	GTG		0.562	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			18	141	0	0	0	0.007413	0	18	141				
SLC22A7	10864	broad.mit.edu	37	6	43271882	43271882	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:43271882T>C	ENST00000372585.5	+	10	1587	c.1492T>C	c.(1492-1494)Tat>Cat	p.Y498H	SLC22A7_ENST00000372574.3_Missense_Mutation_p.Y496H|SLC22A7_ENST00000372589.3_Missense_Mutation_p.Y496H|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	498					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CAAGCTTACTTATGGGGGGAT	0.662																																							uc003out.2		NA																	0					0						c.(1492-1494)TAT>CAT		solute carrier family 22 member 7 isoform b							62.0	71.0	68.0					6																	43271882		2203	4299	6502	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43271882T>C	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1492T>C	6.37:g.43271882T>C	ENSP00000361666:p.Tyr498His					SLC22A7_uc003ous.2_Missense_Mutation_p.Y496H	p.Y498H	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		10	1591	+			498			Helical; (Potential).		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1492T>C	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070306	0.76301	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.25	5.25	0.73442	.	0.063428	0.64402	D	0.000004	T	0.75488	0.3856	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.987	T	0.82057	-0.0646	10	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:0.0:1.0	.	496;496	Q9Y694-2;Q9Y694-3	.;.	H	496;498;496;191	ENSP00000361670:Y496H;ENSP00000361666:Y498H;ENSP00000361655:Y496H;ENSP00000393836:Y191H	ENSP00000361655:Y496H	Y	+	1	0	SLC22A7	43379860	1.000000	0.71417	0.944000	0.38274	0.980000	0.70556	3.645000	0.54389	1.982000	0.57802	0.402000	0.26972	TAT		0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			11	245	0	0	0	0.001368	0	11	245				
SLC22A7	10864	broad.mit.edu	37	6	43271936	43271936	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:43271936A>T	ENST00000372585.5	+	10	1641	c.1546A>T	c.(1546-1548)Agg>Tgg	p.R516W	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R514W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R514W|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	516					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCCAGAGACGAGGCAGGCACA	0.602																																							uc003out.2		NA																	0					0						c.(1546-1548)AGG>TGG		solute carrier family 22 member 7 isoform b							66.0	74.0	71.0					6																	43271936		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43271936A>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1546A>T	6.37:g.43271936A>T	ENSP00000361666:p.Arg516Trp					SLC22A7_uc003ous.2_Missense_Mutation_p.R514W	p.R516W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		10	1645	+			516					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1546A>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560559	0.65538	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.34	2.72	0.32119	.	.	.	.	.	T	0.61949	0.2388	M	0.85041	2.73	0.09310	N	1	P;P	0.49307	0.922;0.922	P;P	0.62885	0.908;0.868	T	0.50110	-0.8866	9	0.38643	T	0.18	.	6.1125	0.20108	0.6105:0.2471:0.0:0.1425	.	514;514	Q9Y694-2;Q9Y694-3	.;.	W	514;516;514;209	ENSP00000361670:R514W;ENSP00000361666:R516W;ENSP00000361655:R514W;ENSP00000393836:R209W	ENSP00000361655:R514W	R	+	1	2	SLC22A7	43379914	0.000000	0.05858	0.009000	0.14445	0.962000	0.63368	1.007000	0.29860	2.020000	0.59435	0.459000	0.35465	AGG		0.602	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			9	190	0	0	0	0.006214	0	9	190				
TMEM63B	55362	broad.mit.edu	37	6	44115157	44115157	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:44115157A>T	ENST00000259746.9	+	12	1090	c.907A>T	c.(907-909)Agc>Tgc	p.S303C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.S303C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	303					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAACCTCCAGAGCAAGGAGAA	0.612																																							uc003owr.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(907-909)AGC>TGC		transmembrane protein 63B							145.0	111.0	122.0					6																	44115157		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44115157A>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.907A>T	6.37:g.44115157A>T	ENSP00000259746:p.Ser303Cys					TMEM63B_uc003owq.1_Missense_Mutation_p.S303C|TMEM63B_uc003ows.2_Missense_Mutation_p.S206C|TMEM63B_uc010jyz.2_RNA	p.S303C	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		12	971	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		303					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.907A>T	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.91|18.91	3.723947|3.723947	0.68959|0.68959	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	.|T;T	.|0.44881	.|0.91;0.91	4.53|4.53	3.4|3.4	0.38934|0.38934	.|.	.|0.663509	.|0.16790	.|N	.|0.199426	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.22421|0.22421	0.69|0.69	0.39650|0.39650	D|D	0.97045|0.97045	.|B;P	.|0.44946	.|0.294;0.846	.|B;P	.|0.47162	.|0.401;0.54	T|T	0.05305|0.05305	-1.0893|-1.0893	5|10	.|0.62326	.|D	.|0.03	.|.	6.7762|6.7762	0.23621|0.23621	0.8206:0.0:0.1794:0.0|0.8206:0.0:0.1794:0.0	.|.	.|303;303	.|Q5T3F8;Q5T3F8-2	.|TM63B_HUMAN;.	S|C	231|303	.|ENSP00000259746:S303C;ENSP00000327154:S303C	.|ENSP00000259746:S303C	R|S	+|+	3|1	2|0	TMEM63B|TMEM63B	44223135|44223135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.060000|4.060000	0.57477|0.57477	2.023000|2.023000	0.59567|0.59567	0.528000|0.528000	0.53228|0.53228	AGA|AGC		0.612	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		147	29	0	0	0	0.00361	0	147	29				
GPR115	221393	broad.mit.edu	37	6	47681720	47681720	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:47681720A>T	ENST00000283303.2	+	6	997	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	GPR115_ENST00000371220.1_Missense_Mutation_p.I304F|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.I247F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	247					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGGGTTTCACATCAACCATAA	0.393																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(739-741)ATC>TTC		G-protein coupled receptor 115 precursor							84.0	81.0	82.0					6																	47681720		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681720A>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.739A>T	6.37:g.47681720A>T	ENSP00000283303:p.Ile247Phe					GPR115_uc003oyz.1_Missense_Mutation_p.I304F|GPR115_uc003ozb.1_Missense_Mutation_p.I245F	p.I247F	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	997	+			247			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.739A>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447065	0.12223	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.38401	1.37;1.14;1.14	5.19	1.1	0.20463	.	0.167542	0.41712	D	0.000822	T	0.27205	0.0667	L	0.61387	1.9	0.20821	N	0.999843	P	0.40000	0.698	P	0.46758	0.526	T	0.15065	-1.0450	10	0.87932	D	0	-17.3555	12.3094	0.54920	0.593:0.407:0.0:0.0	.	247	Q8IZF3	GP115_HUMAN	F	304;247;247	ENSP00000360264:I304F;ENSP00000328319:I247F;ENSP00000283303:I247F	ENSP00000283303:I247F	I	+	1	0	GPR115	47789679	0.405000	0.25336	0.269000	0.24586	0.179000	0.23085	1.061000	0.30542	0.360000	0.24265	-1.444000	0.01066	ATC		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		13	74	0	0	0	0.001855	0	13	74				
GPR115	221393	broad.mit.edu	37	6	47682757	47682757	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:47682757C>T	ENST00000283303.2	+	6	2034	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	GPR115_ENST00000371220.1_Silent_p.S649S|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.S592S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	592					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTGGCAGTTCCAAGTCTCAGG	0.473																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1774-1776)TCC>TCT		G-protein coupled receptor 115 precursor							111.0	105.0	107.0					6																	47682757		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682757C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1776C>T	6.37:g.47682757C>T						GPR115_uc003oyz.1_Silent_p.S649S|GPR115_uc003ozb.1_Silent_p.S590S	p.S592S	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	2034	+			592			Cytoplasmic (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1776C>T	CCDS4922.2																																																																																				0.473	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		12	116	0	0	0	0.001855	0	12	116				
CRISP2	7180	broad.mit.edu	37	6	49666144	49666144	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:49666144G>T	ENST00000339139.4	-	7	584	c.348C>A	c.(346-348)gaC>gaA	p.D116E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	116	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.D116D(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTAGGATCTCGTCATACCAGC	0.423																																							uc003ozq.2		NA																	1	Substitution - coding silent(1)		prostate(1)	skin(1)	1						c.(346-348)GAC>GAA		cysteine-rich secretory protein 2 precursor							153.0	139.0	143.0					6																	49666144		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49666144G>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.348C>A	6.37:g.49666144G>T	ENSP00000339155:p.Asp116Glu					CRISP2_uc003ozl.2_Missense_Mutation_p.D116E|CRISP2_uc003ozn.2_Missense_Mutation_p.D116E|CRISP2_uc003ozr.2_Missense_Mutation_p.D116E|CRISP2_uc003ozo.2_Missense_Mutation_p.D116E|CRISP2_uc003ozm.2_Missense_Mutation_p.D116E|CRISP2_uc003ozp.2_Missense_Mutation_p.D116E	p.D116E	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	604	-	Lung NSC(77;0.0161)		116					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.348C>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264767	0.40095	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.10860	2.83	5.39	-9.16	0.00694	CAP domain (3);	0.701012	0.15492	N	0.259507	T	0.02418	0.0074	L	0.54863	1.705	0.24966	N	0.991696	B;B	0.21381	0.055;0.001	B;B	0.33254	0.16;0.017	T	0.39881	-0.9592	10	0.44086	T	0.13	.	0.9218	0.01316	0.2607:0.1101:0.2756:0.3536	.	116;116	Q7Z7B2;P16562	.;CRIS2_HUMAN	E	116	ENSP00000339155:D116E	ENSP00000211238:D116E	D	-	3	2	CRISP2	49774103	0.123000	0.22298	0.003000	0.11579	0.076000	0.17211	-0.694000	0.05115	-1.541000	0.01727	-1.124000	0.02001	GAC		0.423	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		47	47	1	0	7.88023e-25	0.00361	1.42755e-24	47	47				
CRISP2	7180	broad.mit.edu	37	6	49667590	49667590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:49667590C>A	ENST00000339139.4	-	6	434	c.198G>T	c.(196-198)gaG>gaT	p.E66D		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	66	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCGTTGTTACCTCTCTGCTCC	0.348																																							uc003ozq.2		NA																	0				skin(1)	1						c.(196-198)GAG>GAT		cysteine-rich secretory protein 2 precursor							135.0	110.0	118.0					6																	49667590		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49667590C>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.198G>T	6.37:g.49667590C>A	ENSP00000339155:p.Glu66Asp					CRISP2_uc003ozl.2_Missense_Mutation_p.E66D|CRISP2_uc003ozn.2_Missense_Mutation_p.E66D|CRISP2_uc003ozr.2_Missense_Mutation_p.E66D|CRISP2_uc003ozo.2_Missense_Mutation_p.E66D|CRISP2_uc003ozm.2_Missense_Mutation_p.E66D|CRISP2_uc003ozp.2_Missense_Mutation_p.E66D	p.E66D	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	454	-	Lung NSC(77;0.0161)		66					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.198G>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036373	0.08148	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08458	3.09	5.02	-9.03	0.00737	CAP domain (3);	0.221643	0.44688	N	0.000424	T	0.01124	0.0037	L	0.35723	1.085	0.09310	N	0.999993	B;B	0.12013	0.005;0.0	B;B	0.18561	0.022;0.003	T	0.40459	-0.9562	10	0.34782	T	0.22	.	1.0724	0.01624	0.4413:0.1475:0.2254:0.1857	.	66;66	Q7Z7B2;P16562	.;CRIS2_HUMAN	D	66	ENSP00000339155:E66D	ENSP00000211238:E66D	E	-	3	2	CRISP2	49775549	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-2.436000	0.01019	-1.759000	0.01313	-1.117000	0.02048	GAG		0.348	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		13	28	1	0	3.27435e-08	0.00245	4.14541e-08	13	28				
PKHD1	5314	broad.mit.edu	37	6	51927327	51927327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:51927327G>T	ENST00000371117.3	-	14	1383	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q370K|AL590391.1_ENST00000408630.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	370					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGAAAGGTTGTCCTTCCTGT	0.488																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1108-1110)CAA>AAA		fibrocystin isoform 1							138.0	128.0	131.0					6																	51927327		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51927327G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1108C>A	6.37:g.51927327G>T	ENSP00000360158:p.Gln370Lys					PKHD1_uc003pai.2_Missense_Mutation_p.Q370K	p.Q370K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			14	1384	-	Lung NSC(77;0.0605)		370			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1108C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870587	0.51588	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76968	-1.06;-1.06	5.55	4.65	0.58169	.	0.174382	0.40728	N	0.001038	T	0.52853	0.1760	M	0.67953	2.075	0.22389	N	0.999144	B;B	0.25772	0.084;0.134	B;B	0.22601	0.04;0.022	T	0.51733	-0.8668	10	0.02654	T	1	.	13.9727	0.64252	0.0:0.0:0.7177:0.2823	.	370;370	P08F94-2;P08F94	.;PKHD1_HUMAN	K	370	ENSP00000360158:Q370K;ENSP00000341097:Q370K	ENSP00000341097:Q370K	Q	-	1	0	PKHD1	52035286	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	2.174000	0.42482	1.414000	0.47017	0.655000	0.94253	CAA		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	97	1	0	5.77227e-19	0.008361	9.68989e-19	29	97				
IL17A	3605	broad.mit.edu	37	6	52054021	52054021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:52054021C>A	ENST00000340057.1	+	3	444	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGA	0.597																																							uc003pak.1		NA																	0					0						c.(397-399)TTC>TTA		interleukin 17A precursor							85.0	75.0	78.0					6																	52054021		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52054021C>A	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.399C>A	6.37:g.52054021C>A	ENSP00000344192:p.Phe133Leu						p.F133L	NM_002190	NP_002181	Q16552	IL17_HUMAN			3	444	+	Lung NSC(77;0.116)		133					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.399C>A	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082318	0.94050	.	.	ENSG00000112115	ENST00000340057	T	0.61510	0.1	5.64	5.64	0.86602	.	0.110153	0.64402	D	0.000009	T	0.68357	0.2992	M	0.67953	2.075	0.46678	D	0.999158	D	0.69078	0.997	P	0.60473	0.875	T	0.69606	-0.5100	10	0.59425	D	0.04	-41.3293	19.7073	0.96079	0.0:1.0:0.0:0.0	.	133	Q16552	IL17_HUMAN	L	133	ENSP00000344192:F133L	ENSP00000344192:F133L	F	+	3	2	IL17A	52161980	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	5.320000	0.65841	2.672000	0.90937	0.609000	0.83330	TTC		0.597	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		107	17	1	0	1.81606e-51	0.00361	3.48702e-51	107	17				
GFRAL	389400	broad.mit.edu	37	6	55216119	55216119	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:55216119C>G	ENST00000340465.2	+	5	525	c.439C>G	c.(439-441)Cag>Gag	p.Q147E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	147					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGTAATGCACAGTTGGCCTC	0.458																																							uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(439-441)CAG>GAG		GDNF family receptor alpha like precursor							289.0	252.0	265.0					6																	55216119		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216119C>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.439C>G	6.37:g.55216119C>G	ENSP00000343636:p.Gln147Glu						p.Q147E	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	525	+	Lung NSC(77;0.0875)|Renal(3;0.122)		147			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.439C>G	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203199	0.38905	.	.	ENSG00000187871	ENST00000340465	T	0.62639	0.01	5.59	4.67	0.58626	GDNF/GAS1 (2);	0.381500	0.27513	N	0.019023	T	0.36690	0.0976	L	0.29908	0.895	0.32803	D	0.500402	P	0.39424	0.673	B	0.37550	0.253	T	0.33137	-0.9880	10	0.28530	T	0.3	-24.3939	16.4316	0.83847	0.1315:0.8685:0.0:0.0	.	147	Q6UXV0	GFRAL_HUMAN	E	147	ENSP00000343636:Q147E	ENSP00000343636:Q147E	Q	+	1	0	GFRAL	55324078	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.984000	0.56923	2.763000	0.94921	0.655000	0.94253	CAG		0.458	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		26	189	0	0	0	0.00632	0	26	189				
HMGCLL1	54511	broad.mit.edu	37	6	55360299	55360299	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:55360299T>G	ENST00000398661.2	-	8	934	c.803A>C	c.(802-804)aAa>aCa	p.K268T	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.K238T|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.K206T|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.K135T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	268					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)			TGGGATTTCTTTCATCACACT	0.433																																					Ovarian(35;840 893 7837 15538 42887)	Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(802-804)AAA>ACA		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							147.0	134.0	138.0					6																	55360299		1895	4124	6019	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360299T>G	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.803A>C	6.37:g.55360299T>G	ENSP00000381654:p.Lys268Thr					HMGCLL1_uc003pco.2_Missense_Mutation_p.K238T|HMGCLL1_uc010jzx.2_Missense_Mutation_p.K139T|HMGCLL1_uc011dxc.1_Missense_Mutation_p.K206T|HMGCLL1_uc011dxd.1_Missense_Mutation_p.K135T|HMGCLL1_uc011dxe.1_Intron	p.K268T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	962	-	Lung NSC(77;0.0875)		268					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.803A>C	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318497	0.40996	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.98345	-4.88;-4.88;-4.74;-4.88	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.200652	0.51477	D	0.000086	D	0.95143	0.8426	L	0.35414	1.06	0.80722	D	1	B;B;B;B	0.24651	0.049;0.033;0.033;0.108	B;B;B;B	0.35240	0.198;0.033;0.048;0.093	D	0.93508	0.6850	10	0.37606	T	0.19	-12.3738	15.8303	0.78745	0.0:0.0:0.0:1.0	.	135;206;238;268	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	T	238;268;135;206	ENSP00000274901:K238T;ENSP00000381654:K268T;ENSP00000359887:K135T;ENSP00000309737:K206T	ENSP00000274901:K238T	K	-	2	0	HMGCLL1	55468258	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.056000	0.57448	2.133000	0.65898	0.533000	0.62120	AAA		0.433	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		50	39	0	0	0	0.00361	0	50	39				
DST	667	broad.mit.edu	37	6	56397172	56397172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56397172C>A	ENST00000361203.3	-	60	16452	c.16445G>T	c.(16444-16446)tGg>tTg	p.W5482L	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.W3396L|DST_ENST00000446842.2_Missense_Mutation_p.W5158L|DST_ENST00000370788.2_Missense_Mutation_p.W3396L|DST_ENST00000370769.4_Missense_Mutation_p.W5484L|DST_ENST00000244364.6_Missense_Mutation_p.W3070L|DST_ENST00000370754.5_Missense_Mutation_p.W5662L|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5482					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAATGCCTCCCATCTGCTATC	0.398																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10720-10722)TGG>TTG		dystonin isoform 2							104.0	94.0	97.0					6																	56397172		1852	4106	5958	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56397172C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16445G>T	6.37:g.56397172C>A	ENSP00000354508:p.Trp5482Leu					DST_uc003pcz.3_Missense_Mutation_p.W3396L|DST_uc011dxj.1_Missense_Mutation_p.W3425L|DST_uc011dxk.1_Missense_Mutation_p.W3436L|DST_uc003pcy.3_Missense_Mutation_p.W3070L	p.W3574L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		58	10749	-	Lung NSC(77;0.103)		5482			Spectrin 8.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10721G>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.083739	0.76642	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.59	5.59	0.84812	.	0.000000	0.48767	D	0.000169	T	0.79822	0.4512	M	0.76328	2.33	0.36272	D	0.855203	D;D;D;D;P	0.89917	0.999;1.0;1.0;1.0;0.843	D;D;D;D;P	0.97110	0.998;1.0;0.999;0.999;0.64	T	0.77576	-0.2536	9	0.45353	T	0.12	.	20.0334	0.97548	0.0:1.0:0.0:0.0	.	3396;5484;5662;5482;3070	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	3070;5662;5484;3396;5158;3396;5482	ENSP00000244364:W3070L;ENSP00000359790:W5662L;ENSP00000359805:W5484L;ENSP00000400883:W3396L;ENSP00000393645:W5158L;ENSP00000359824:W3396L;ENSP00000354508:W5482L	ENSP00000244364:W3070L	W	-	2	0	DST	56505131	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.738000	0.84966	2.810000	0.96702	0.586000	0.80456	TGG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		24	17	1	0	9.57634e-11	0.00333	1.30768e-10	24	17				
DST	667	broad.mit.edu	37	6	56397174	56397174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56397174T>A	ENST00000361203.3	-	60	16450	c.16443A>T	c.(16441-16443)agA>agT	p.R5481S	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3395S|DST_ENST00000446842.2_Missense_Mutation_p.R5157S|DST_ENST00000370788.2_Missense_Mutation_p.R3395S|DST_ENST00000370769.4_Missense_Mutation_p.R5483S|DST_ENST00000244364.6_Missense_Mutation_p.R3069S|DST_ENST00000370754.5_Missense_Mutation_p.R5661S|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5481					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCCTCCCATCTGCTATCCA	0.408																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10717-10719)AGA>AGT		dystonin isoform 2							105.0	95.0	98.0					6																	56397174		1854	4107	5961	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56397174T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16443A>T	6.37:g.56397174T>A	ENSP00000354508:p.Arg5481Ser					DST_uc003pcz.3_Missense_Mutation_p.R3395S|DST_uc011dxj.1_Missense_Mutation_p.R3424S|DST_uc011dxk.1_Missense_Mutation_p.R3435S|DST_uc003pcy.3_Missense_Mutation_p.R3069S	p.R3573S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		58	10747	-	Lung NSC(77;0.103)		5481			Spectrin 8.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10719A>T		.	.	.	.	.	.	.	.	.	.	T	16.53	3.150279	0.57151	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000038	T	0.57446	0.2054	M	0.85197	2.74	0.33670	D	0.610864	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.994	D;D;D;D;D	0.91635	0.997;0.999;0.998;0.998;0.941	T	0.66300	-0.5958	9	0.49607	T	0.09	.	10.4769	0.44670	0.0:0.0726:0.0:0.9274	.	3395;5483;5661;5481;3069	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	3069;5661;5483;3395;5157;3395;5481	ENSP00000244364:R3069S;ENSP00000359790:R5661S;ENSP00000359805:R5483S;ENSP00000400883:R3395S;ENSP00000393645:R5157S;ENSP00000359824:R3395S;ENSP00000354508:R5481S	ENSP00000244364:R3069S	R	-	3	2	DST	56505133	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.833000	0.39161	2.267000	0.75376	0.477000	0.44152	AGA		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		25	17	0	0	0	0.004656	0	25	17				
DST	667	broad.mit.edu	37	6	56515773	56515773	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56515773T>C	ENST00000361203.3	-	8	759	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	DST_ENST00000312431.6_Missense_Mutation_p.Y251C|DST_ENST00000421834.2_Missense_Mutation_p.Y251C|DST_ENST00000370788.2_Missense_Mutation_p.Y251C|DST_ENST00000370769.4_Missense_Mutation_p.Y251C|DST_ENST00000370754.5_Missense_Mutation_p.Y429C			Q03001	DYST_HUMAN	dystonin	251	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATGCATCATAGAGAGATGA	0.368																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1285-1287)TAT>TGT		dystonin isoform 2							79.0	77.0	78.0					6																	56515773		1869	4116	5985	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56515773T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.752A>G	6.37:g.56515773T>C	ENSP00000354508:p.Tyr251Cys					DST_uc003pcz.3_Missense_Mutation_p.Y251C|DST_uc011dxj.1_Missense_Mutation_p.Y280C|DST_uc011dxk.1_Missense_Mutation_p.Y291C|DST_uc011dxl.1_Missense_Mutation_p.Y280C|DST_uc003pde.2_Missense_Mutation_p.Y367C	p.Y429C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		11	1314	-	Lung NSC(77;0.103)		251			CH 2.|Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1286A>G		.	.	.	.	.	.	.	.	.	.	T	17.57	3.422790	0.62733	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88;-3.88;-3.88;-3.88	5.45	5.45	0.79879	Calponin homology domain (4);	0.000000	0.49916	D	0.000139	D	0.97504	0.9183	.	.	.	0.37542	D	0.918344	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.982;1.0;1.0;1.0;1.0;1.0	D	0.98404	1.0569	8	0.87932	D	0	.	15.6861	0.77411	0.0:0.0:0.0:1.0	.	280;251;251;429;367;251	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	C	429;251;251;251;251;251;291;429	ENSP00000359790:Y429C;ENSP00000359805:Y251C;ENSP00000400883:Y251C;ENSP00000307959:Y251C;ENSP00000359824:Y251C;ENSP00000354508:Y251C;ENSP00000431030:Y291C;ENSP00000393082:Y429C	ENSP00000307959:Y251C	Y	-	2	0	DST	56623732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.666000	0.83877	2.289000	0.77006	0.460000	0.39030	TAT		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		42	31	0	0	0	0.00361	0	42	31				
PRIM2	5558	broad.mit.edu	37	6	57467183	57467183	+	3'UTR	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:57467183C>T	ENST00000389488.2	+	0	1211				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTATCCAATCCACCAAGCCAA	0.433																																							uc003pdx.2		NA																	0					0						c.(1123-1125)CCA>CTA		DNA primase polypeptide 2							132.0	126.0	128.0					6																	57467183		1996	4188	6184	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57467183C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1208C>T	6.37:g.57467183C>T							p.P375L	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	12	1211	+			375					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1124C>T																																																																																					0.433	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		14	104	0	0	0	0.003163	0	14	104				
EYS	346007	broad.mit.edu	37	6	66063351	66063351	+	Splice_Site	SNP	C	C	A	rs558001726		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:66063351C>A	ENST00000370621.3	-	9	1985	c.1459G>T	c.(1459-1461)Gga>Tga	p.G487*	EYS_ENST00000503581.1_Splice_Site_p.G487*|EYS_ENST00000393380.2_Splice_Site_p.G487*|EYS_ENST00000370616.2_Splice_Site_p.G487*|EYS_ENST00000370618.3_Splice_Site_p.G487*|EYS_ENST00000342421.5_Splice_Site_p.G487*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	487					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTTGTTACCTGCAAATCCC	0.333																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(1459-1461)GGA>TGA		eyes shut homolog isoform 1							68.0	66.0	67.0					6																	66063351		2203	4300	6503	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063351C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1459+1G>T	6.37:g.66063351C>A						EYS_uc003peq.2_Nonsense_Mutation_p.G487*|EYS_uc003per.1_Nonsense_Mutation_p.G487*	p.G487*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			9	1997	-			487					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.1459G>T		.	.	.	.	.	.	.	.	.	.	c	35	5.470973	0.96274	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3445	0.32263	0.0:0.8863:0.0:0.1137	.	.	.	.	X	487	.	.	G	-	1	0	EYS	66120072	0.922000	0.31269	0.120000	0.21714	0.115000	0.19883	0.694000	0.25512	0.656000	0.30886	0.591000	0.81541	GGA		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Nonsense_Mutation	10	51	1	0	2.17888e-05	0.006214	2.49757e-05	10	51				
BAI3	577	broad.mit.edu	37	6	70071016	70071016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70071016G>T	ENST00000370598.1	+	29	4672	c.3851G>T	c.(3850-3852)tGt>tTt	p.C1284F	BAI3_ENST00000238918.8_Missense_Mutation_p.C490F|BAI3_ENST00000546190.1_Missense_Mutation_p.C248F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1284					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTACTTATGTACGGATGAT	0.403																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3850-3852)TGT>TTT		brain-specific angiogenesis inhibitor 3							84.0	82.0	83.0					6																	70071016		2202	4299	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071016G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3851G>T	6.37:g.70071016G>T	ENSP00000359630:p.Cys1284Phe					BAI3_uc010kak.2_Missense_Mutation_p.C1284F|BAI3_uc011dxx.1_Missense_Mutation_p.C490F	p.C1284F	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4299	+		all_lung(197;0.212)	1284			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3851G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778706	0.49891	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06768	3.26;3.26;3.26	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.69358	2.11	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.986;0.915	T	0.00679	-1.1613	10	0.72032	D	0.01	.	19.3944	0.94601	0.0:0.0:1.0:0.0	.	490;1284	B7Z356;O60242	.;BAI3_HUMAN	F	1284;490;248	ENSP00000359630:C1284F;ENSP00000238918:C490F;ENSP00000441821:C248F	ENSP00000238918:C490F	C	+	2	0	BAI3	70127737	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	9.174000	0.94824	2.665000	0.90641	0.591000	0.81541	TGT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	43	1	0	1.36491e-13	0.001855	2.03327e-13	12	43				
BAI3	577	broad.mit.edu	37	6	70071032	70071032	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70071032G>A	ENST00000370598.1	+	29	4688	c.3867G>A	c.(3865-3867)ttG>ttA	p.L1289L	BAI3_ENST00000238918.8_Silent_p.L495L|BAI3_ENST00000546190.1_Silent_p.L253L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1289					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGATAATTTGAGAGGGGCTG	0.393																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3865-3867)TTG>TTA		brain-specific angiogenesis inhibitor 3							77.0	75.0	76.0					6																	70071032		2203	4299	6502	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071032G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3867G>A	6.37:g.70071032G>A						BAI3_uc010kak.2_Silent_p.L1289L|BAI3_uc011dxx.1_Silent_p.L495L	p.L1289L	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4315	+		all_lung(197;0.212)	1289			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3867G>A	CCDS4968.1																																																																																				0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			20	33	0	0	0	0.010504	0	20	33				
COL19A1	1310	broad.mit.edu	37	6	70873262	70873262	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70873262G>T	ENST00000322773.4	+	36	2476	c.2374G>T	c.(2374-2376)Ggt>Tgt	p.G792C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G414C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	792	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGACATCCTGGTCCCACAGG	0.438																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(2374-2376)GGT>TGT		alpha 1 type XIX collagen precursor							83.0	73.0	77.0					6																	70873262		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70873262G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2374G>T	6.37:g.70873262G>T	ENSP00000316030:p.Gly792Cys					COL19A1_uc010kam.1_Missense_Mutation_p.G688C	p.G792C	NM_001858	NP_001849	Q14993	COJA1_HUMAN			36	2491	+			792			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2374G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351761	0.61183	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99369	-5.78;-5.78	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97649	1.0153	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	792	Q14993	COJA1_HUMAN	C	792;414	ENSP00000316030:G792C;ENSP00000377013:G414C	ENSP00000316030:G792C	G	+	1	0	COL19A1	70929983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.873000	0.75541	2.871000	0.98454	0.655000	0.94253	GGT		0.438	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			10	17	1	0	6.40141e-05	0.000978	7.21159e-05	10	17				
COL12A1	1303	broad.mit.edu	37	6	75818746	75818746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:75818746C>A	ENST00000322507.8	-	52	8397	c.8088G>T	c.(8086-8088)agG>agT	p.R2696S	COL12A1_ENST00000483888.2_Missense_Mutation_p.R2696S|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1532S|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2696	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGGCTGATTTCCTTTCCCCTT	0.323																																							uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8086-8088)AGG>AGT		collagen, type XII, alpha 1 long isoform							110.0	106.0	107.0					6																	75818746		1824	4078	5902	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75818746C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8088G>T	6.37:g.75818746C>A	ENSP00000325146:p.Arg2696Ser					COL12A1_uc003pht.2_Missense_Mutation_p.R1532S	p.R2696S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			52	8254	-			2696			TSP N-terminal.|Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8088G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890634	0.33348	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	6.06	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.140216	0.64402	D	0.000007	T	0.00666	0.0022	N	0.15975	0.35	0.32063	N	0.595379	P;P	0.39665	0.649;0.682	B;B	0.36567	0.228;0.155	T	0.57118	-0.7866	10	0.44086	T	0.13	.	9.8939	0.41306	0.0:0.7368:0.0:0.2632	.	1532;2696	Q99715-2;Q99715	.;COCA1_HUMAN	S	2696;334;1532;2696	ENSP00000325146:R2696S;ENSP00000399812:R334S;ENSP00000305147:R1532S;ENSP00000421216:R2696S	ENSP00000325146:R2696S	R	-	3	2	COL12A1	75875466	0.996000	0.38824	1.000000	0.80357	0.725000	0.41563	0.496000	0.22499	0.911000	0.36747	-0.143000	0.13931	AGG		0.323	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		25	48	1	0	8.58068e-18	0.007291	1.40287e-17	25	48				
TBX18	9096	broad.mit.edu	37	6	85447030	85447030	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:85447030G>T	ENST00000369663.5	-	8	1534	c.1197C>A	c.(1195-1197)gcC>gcA	p.A399A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	399					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGATGGAAGGCAGGAGAGG	0.582																																							uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(1195-1197)GCC>GCA		T-box 18							74.0	76.0	75.0					6																	85447030		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85447030G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1197C>A	6.37:g.85447030G>T						TBX18_uc010kbq.1_Intron	p.A399A	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1197	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	399					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1197C>A	CCDS34495.1																																																																																				0.582	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		11	28	1	0	0.000151284	0.001855	0.000168068	11	28				
NT5E	4907	broad.mit.edu	37	6	86203677	86203677	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:86203677A>C	ENST00000257770.3	+	9	1729	c.1680A>C	c.(1678-1680)ttA>ttC	p.L560F	NT5E_ENST00000369651.3_Missense_Mutation_p.L510F	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	560					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GCTTTTCTTTAATATTTCTTT	0.353																																					Melanoma(140;797 1765 2035 2752 18208)	Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1678-1680)TTA>TTC		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						77.0	81.0	80.0					6																	86203677		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203677A>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1680A>C	6.37:g.86203677A>C	ENSP00000257770:p.Leu560Phe					NT5E_uc010kbr.2_Missense_Mutation_p.L510F	p.L560F	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	9	2236	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	560					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1680A>C	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058816	0.36277	.	.	ENSG00000135318	ENST00000257770;ENST00000369651	T;T	0.59772	0.36;0.24	5.59	3.27	0.37495	.	0.300594	0.31450	N	0.007640	T	0.23492	0.0568	L	0.55990	1.75	0.23192	N	0.998141	P;P	0.47302	0.868;0.893	B;B	0.39805	0.31;0.293	T	0.15780	-1.0425	10	0.28530	T	0.3	-12.4185	0.6238	0.00783	0.3614:0.2935:0.1778:0.1673	.	510;560	B3KQI8;P21589	.;5NTD_HUMAN	F	560;510	ENSP00000257770:L560F;ENSP00000358665:L510F	ENSP00000257770:L560F	L	+	3	2	NT5E	86260396	0.239000	0.23836	0.915000	0.36163	0.261000	0.26267	0.910000	0.28571	0.936000	0.37367	0.533000	0.62120	TTA		0.353	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			12	25	0	0	0	0.001855	0	12	25				
ZNF292	23036	broad.mit.edu	37	6	87968387	87968387	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:87968387G>C	ENST00000369577.3	+	8	5083	c.5040G>C	c.(5038-5040)caG>caC	p.Q1680H	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q1675H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1680						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGAACCTCAGAGTTTGGTGG	0.333																																							uc003plm.3		NA																	0				ovary(4)	4						c.(5038-5040)CAG>CAC		zinc finger protein 292							34.0	34.0	34.0					6																	87968387		1830	4077	5907	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968387G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5040G>C	6.37:g.87968387G>C	ENSP00000358590:p.Gln1680His						p.Q1680H	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5081	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1680					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5040G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153409	0.38021	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08896	3.04;3.06	5.89	5.89	0.94794	.	0.514561	0.19364	N	0.116074	T	0.04272	0.0118	N	0.24115	0.695	0.29007	N	0.887102	P	0.50710	0.938	P	0.47470	0.548	T	0.18808	-1.0325	10	0.72032	D	0.01	.	11.2084	0.48784	0.1098:0.0:0.8902:0.0	.	1680	O60281	ZN292_HUMAN	H	1680;1675	ENSP00000358590:Q1680H;ENSP00000342847:Q1675H	ENSP00000342847:Q1675H	Q	+	3	2	ZNF292	88025106	1.000000	0.71417	0.960000	0.40013	0.976000	0.68499	4.393000	0.59665	2.782000	0.95742	0.557000	0.71058	CAG		0.333	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	8	0	0	0	0.000602	0	5	8				
SPACA1	81833	broad.mit.edu	37	6	88773917	88773917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:88773917G>T	ENST00000237201.1	+	6	828	c.711G>T	c.(709-711)ttG>ttT	p.L237F	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	237			L -> S (in dbSNP:rs2276089).		acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTATTGATCTTCATAA	0.398																																							uc003pmn.2		NA																	0					0						c.(709-711)TTG>TTT		sperm acrosome associated 1 precursor							137.0	136.0	136.0					6																	88773917		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88773917G>T	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.711G>T	6.37:g.88773917G>T	ENSP00000237201:p.Leu237Phe						p.L237F	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	828	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	237			Helical; (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.711G>T	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386111	0.42308	.	.	ENSG00000118434	ENST00000237201	T	0.31510	1.49	5.68	3.56	0.40772	.	0.137493	0.33610	N	0.004727	T	0.35278	0.0926	M	0.67953	2.075	0.31520	N	0.662482	D	0.89917	1.0	D	0.79108	0.992	T	0.25222	-1.0138	10	0.72032	D	0.01	-9.7589	6.7156	0.23302	0.1292:0.1814:0.6894:0.0	.	237	Q9HBV2	SACA1_HUMAN	F	237	ENSP00000237201:L237F	ENSP00000237201:L237F	L	+	3	2	SPACA1	88830636	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	0.808000	0.27154	1.395000	0.46643	0.585000	0.79938	TTG		0.398	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			19	41	1	0	5.35267e-07	0.007413	6.49709e-07	19	41				
GABRR2	2570	broad.mit.edu	37	6	89975382	89975382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:89975382C>A	ENST00000402938.3	-	7	972	c.839G>T	c.(838-840)tGg>tTg	p.W280L	GABRR2_ENST00000602399.1_Missense_Mutation_p.W305L	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	280					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GAAGGACACCCAGGACAGCAT	0.468																																							uc003pnb.2		NA																	0					0						c.(913-915)TGG>TTG		gamma-aminobutyric acid (GABA) receptor, rho 2							133.0	114.0	120.0					6																	89975382		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975382C>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.839G>T	6.37:g.89975382C>A	ENSP00000386029:p.Trp280Leu					GABRR2_uc011dzx.1_Missense_Mutation_p.W181L	p.W305L	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	922	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	305			Helical; (Potential).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.914G>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	34	5.341022	0.95783	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92198	0.5765	8	.	.	.	.	20.1111	0.97911	0.0:1.0:0.0:0.0	.	305	P28476	GBRR2_HUMAN	L	305	.	.	W	-	2	0	GABRR2	90032101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.741000	0.93983	0.655000	0.94253	TGG		0.468	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			16	32	1	0	0.000566183	0.00499	0.000618512	16	32				
FBXL4	26235	broad.mit.edu	37	6	99328438	99328438	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:99328438A>C	ENST00000369244.2	-	8	1808	c.1380T>G	c.(1378-1380)agT>agG	p.S460R	FBXL4_ENST00000229971.1_Missense_Mutation_p.S460R	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	460					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CCATGACACAACTGCCTAAAC	0.423																																							uc003ppf.1		NA																	0				skin(2)	2						c.(1378-1380)AGT>AGG		F-box and leucine-rich repeat protein 4							107.0	92.0	97.0					6																	99328438		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99328438A>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1380T>G	6.37:g.99328438A>C	ENSP00000358247:p.Ser460Arg					FBXL4_uc003ppg.1_Missense_Mutation_p.S460R|FBXL4_uc003pph.1_Missense_Mutation_p.S62R|FBXL4_uc010kcp.2_Intron	p.S460R	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	7	1738	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	460			LRR 4.		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1380T>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819328	0.32145	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.16324	2.35;2.35	5.58	-0.693	0.11298	.	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	L	0.39245	1.2	0.58432	D	0.999999	B	0.15473	0.013	B	0.10450	0.005	T	0.26677	-1.0096	10	0.22109	T	0.4	.	11.4892	0.50371	0.3359:0.0:0.6641:0.0	.	460	Q9UKA2	FBXL4_HUMAN	R	460	ENSP00000358247:S460R;ENSP00000229971:S460R	ENSP00000229971:S460R	S	-	3	2	FBXL4	99435159	0.997000	0.39634	0.999000	0.59377	0.992000	0.81027	0.460000	0.21924	0.004000	0.14682	0.482000	0.46254	AGT		0.423	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			10	25	0	0	0	0.008291	0	10	25				
RPF2	84154	broad.mit.edu	37	6	111320934	111320934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:111320934G>T	ENST00000441448.2	+	6	429	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	113	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGACTACCATGTGCTGGATAT	0.333																																							uc003pun.2		NA																	0				ovary(2)	2						c.(337-339)GTG>TTG		brix domain containing 1							158.0	152.0	154.0					6																	111320934		2203	4300	6503	SO:0001583	missense	84154					nucleolus	protein binding	g.chr6:111320934G>T	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.337G>T	6.37:g.111320934G>T	ENSP00000402338:p.Val113Leu					RPF2_uc003puo.2_Missense_Mutation_p.V50L	p.V113L	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN			6	356	+			113			Brix.		Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	c.337G>T	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.906144	0.33628	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.20069	2.1;2.1;2.1	4.98	4.09	0.47781	Brix domain (3);	0.115763	0.64402	D	0.000018	T	0.06234	0.0161	N	0.20766	0.605	0.58432	D	0.999999	B;B	0.11235	0.001;0.004	B;B	0.13407	0.006;0.009	T	0.14282	-1.0478	10	0.24483	T	0.36	.	12.8825	0.58024	0.0823:0.0:0.9177:0.0	.	113;113	A8K800;Q9H7B2	.;RPF2_HUMAN	L	113;74;80	ENSP00000402338:V113L;ENSP00000357857:V74L;ENSP00000414026:V80L	ENSP00000357857:V74L	V	+	1	0	RPF2	111427627	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.597000	0.67577	2.599000	0.87857	0.655000	0.94253	GTG		0.333	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		16	60	1	0	5.3912e-06	0.006122	6.29483e-06	16	60				
TSPYL1	7259	broad.mit.edu	37	6	116600489	116600489	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:116600489C>T	ENST00000368608.3	-	1	577	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	169					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCTCCCTCTCAGCCACGGCT	0.637																																							uc003pwp.3		NA																	0					0						c.(505-507)GAG>AAG		TSPY-like 1							60.0	65.0	63.0					6																	116600489		2203	4300	6503	SO:0001583	missense	7259				nucleosome assembly	nucleolus		g.chr6:116600489C>T	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.505G>A	6.37:g.116600489C>T	ENSP00000357597:p.Glu169Lys					DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	p.E169K	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	792	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	169					O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	c.505G>A	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487131	0.26686	.	.	ENSG00000189241	ENST00000368608	T	0.24350	1.86	1.63	1.63	0.23807	.	0.221905	0.22969	N	0.053455	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.28026	0.198	B	0.17098	0.017	T	0.43572	-0.9383	10	0.12766	T	0.61	-8.8836	6.7311	0.23383	0.0:1.0:0.0:0.0	.	169	Q9H0U9	TSYL1_HUMAN	K	169	ENSP00000357597:E169K	ENSP00000357597:E169K	E	-	1	0	TSPYL1	116707182	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.439000	0.21575	1.193000	0.43086	0.561000	0.74099	GAG		0.637	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			10	52	0	0	0	0.000978	0	10	52				
ROS1	6098	broad.mit.edu	37	6	117622204	117622204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:117622204G>C	ENST00000368508.3	-	42	6864	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ROS1_ENST00000368507.3_Missense_Mutation_p.F2216L|RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTATTTAAGAAAAAATTTC	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6664-6666)TTC>TTG		proto-oncogene c-ros-1 protein precursor							82.0	85.0	84.0					6																	117622204		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117622204G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6666C>G	6.37:g.117622204G>C	ENSP00000357494:p.Phe2222Leu					ROS1_uc011ebi.1_RNA	p.F2222L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	42	6865	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2222			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6666C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324052	0.24080	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.69685	-0.41;-0.42	5.01	4.13	0.48395	.	0.522394	0.19071	N	0.123518	T	0.30324	0.0761	N	0.25992	0.78	0.23076	N	0.99833	B	0.18166	0.026	B	0.11329	0.006	T	0.10064	-1.0646	10	0.28530	T	0.3	.	9.1353	0.36870	0.0:0.1491:0.6752:0.1757	.	2222	P08922	ROS1_HUMAN	L	2222;2216	ENSP00000357494:F2222L;ENSP00000357493:F2216L	ENSP00000357493:F2216L	F	-	3	2	ROS1	117728897	0.982000	0.34865	0.718000	0.30602	0.563000	0.35712	0.157000	0.16402	1.406000	0.46857	0.650000	0.86243	TTC		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			27	42	0	0	0	0.00632	0	27	42				
MOXD1	26002	broad.mit.edu	37	6	132695848	132695848	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:132695848G>T	ENST00000367963.3	-	2	451	c.333C>A	c.(331-333)gcC>gcA	p.A111A	MOXD1_ENST00000336749.3_Silent_p.A43A	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	111	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTTTCCATGGCATATTCTA	0.338																																							uc003qdf.2		NA																	0				ovary(1)	1						c.(331-333)GCC>GCA		monooxygenase, DBH-like 1 isoform 2							216.0	203.0	208.0					6																	132695848		2203	4299	6502	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695848G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.333C>A	6.37:g.132695848G>T						MOXD1_uc003qde.2_Silent_p.A43A	p.A111A	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	432	-	Breast(56;0.0495)		111			Lumenal (Potential).|DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.333C>A	CCDS5152.2																																																																																				0.338	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		10	58	1	0	2.17888e-05	0.006214	2.49757e-05	10	58				
SLC35D3	340146	broad.mit.edu	37	6	137245529	137245529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:137245529G>T	ENST00000331858.4	+	2	1111	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	316					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGACCTGGAGGCCCAGCCTCG	0.602																																							uc003qhe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(946-948)GCC>TCC		solute carrier family 35, member D3							38.0	40.0	40.0					6																	137245529		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245529G>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.946G>T	6.37:g.137245529G>T	ENSP00000333591:p.Ala316Ser						p.A316S	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1111	+	Colorectal(23;0.24)		316					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.946G>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	5.529	0.282604	0.10458	.	.	ENSG00000182747	ENST00000331858	T	0.55052	0.54	6.06	-1.96	0.07525	.	0.380247	0.28828	N	0.014007	T	0.07007	0.0178	N	0.08118	0	0.22500	N	0.99905	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.07175	T	0.84	-1.8416	6.2752	0.20977	0.4484:0.0:0.3961:0.1555	.	316	Q5M8T2	S35D3_HUMAN	S	316	ENSP00000333591:A316S	ENSP00000333591:A316S	A	+	1	0	SLC35D3	137287222	1.000000	0.71417	0.721000	0.30653	0.631000	0.37964	1.286000	0.33273	-0.572000	0.06006	-0.262000	0.10625	GCC		0.602	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		13	13	1	0	9.31168e-06	0.001855	1.08199e-05	13	13				
HIVEP2	3097	broad.mit.edu	37	6	143093749	143093749	+	Silent	SNP	C	C	G	rs377632005		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:143093749C>G	ENST00000367604.1	-	4	2766	c.2127G>C	c.(2125-2127)acG>acC	p.T709T	HIVEP2_ENST00000012134.2_Silent_p.T709T|HIVEP2_ENST00000367603.2_Silent_p.T709T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	709					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGATCATGGGCGTGTCCTCTT	0.522																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2125-2127)ACG>ACC		human immunodeficiency virus type I enhancer							177.0	182.0	180.0					6																	143093749		2103	4222	6325	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093749C>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2127G>C	6.37:g.143093749C>G							p.T709T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2870	-			709					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.2127G>C	CCDS43510.1																																																																																				0.522	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			36	40	0	0	0	0.003755	0	36	40				
GRM1	2911	broad.mit.edu	37	6	146480550	146480550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:146480550C>A	ENST00000282753.1	+	2	1002	c.767C>A	c.(766-768)gCc>gAc	p.A256D	GRM1_ENST00000492807.2_Missense_Mutation_p.A256D|GRM1_ENST00000361719.2_Missense_Mutation_p.A256D|GRM1_ENST00000392299.2_Missense_Mutation_p.A256D|GRM1_ENST00000507907.1_Missense_Mutation_p.A256D|GRM1_ENST00000355289.4_Missense_Mutation_p.A256D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	256					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTCTGTATCGCCCATTCTGAC	0.527																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(766-768)GCC>GAC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						105.0	96.0	99.0					6																	146480550		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480550C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.767C>A	6.37:g.146480550C>A	ENSP00000282753:p.Ala256Asp					GRM1_uc010khu.1_Missense_Mutation_p.A256D|GRM1_uc010khv.1_Missense_Mutation_p.A256D|GRM1_uc003qll.2_Missense_Mutation_p.A256D|GRM1_uc011edz.1_Missense_Mutation_p.A256D|GRM1_uc011eea.1_Missense_Mutation_p.A256D	p.A256D	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1237	+		Ovarian(120;0.0387)	256			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.767C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320476	0.95682	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94076	0.8101	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.94467	0.7681	10	0.87932	D	0	.	19.1244	0.93376	0.0:1.0:0.0:0.0	.	256;256;251;256	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	D	256	ENSP00000354896:A256D;ENSP00000376119:A256D;ENSP00000424095:A256D;ENSP00000282753:A256D;ENSP00000347437:A256D;ENSP00000425599:A256D	ENSP00000282753:A256D	A	+	2	0	GRM1	146522243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.441000	0.80485	2.513000	0.84729	0.655000	0.94253	GCC		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	24	1	0	2.94398e-08	0.007413	3.74689e-08	17	24				
STXBP5	134957	broad.mit.edu	37	6	147680250	147680251	+	Missense_Mutation	DNP	GG	GG	TT	rs144076925	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:147680250_147680251GG>TT	ENST00000321680.6	+	23	2336_2337	c.2336_2337GG>TT	c.(2335-2337)cGG>cTT	p.R779L	STXBP5_ENST00000367481.3_Missense_Mutation_p.R743L|STXBP5_ENST00000367480.3_Missense_Mutation_p.R726L|STXBP5_ENST00000179882.6_Missense_Mutation_p.R434L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	779					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R743L(1)|p.R779L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCCGATCACGGAGTTCAAGTG	0.386																																							uc003qlz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2335-2337)CGG>CTT		syntaxin binding protein 5 (tomosyn) isoform b																																				SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680250_147680251GG>TT	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	Exception_encountered	6.37:g.147680250_147680251delinsTT	ENSP00000321826:p.Arg779Leu					STXBP5_uc010khz.1_Missense_Mutation_p.R743L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R434L	p.R779L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2497_2498	+		Ovarian(120;0.0164)	779					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	DNP	ENST00000321680.6	37	c.2336_2337GG>TT	CCDS47499.1																																																																																				0.386	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			13	23	0	0	0	0.004672	0	13	23				
STXBP5	134957	broad.mit.edu	37	6	147684481	147684481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:147684481G>A	ENST00000321680.6	+	24	2556	c.2556G>A	c.(2554-2556)ttG>ttA	p.L852L	STXBP5_ENST00000367481.3_Silent_p.L816L|STXBP5_ENST00000367480.3_Silent_p.L799L|STXBP5_ENST00000179882.6_Silent_p.L507L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	852					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTACTATATTGAGGTTAAAAG	0.353																																							uc003qlz.2		NA																	0					0						c.(2554-2556)TTG>TTA		syntaxin binding protein 5 (tomosyn) isoform b							39.0	42.0	41.0					6																	147684481		2202	4298	6500	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684481G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2556G>A	6.37:g.147684481G>A						STXBP5_uc010khz.1_Silent_p.L816L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.L507L	p.L852L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	24	2717	+		Ovarian(120;0.0164)	852					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2556G>A	CCDS47499.1																																																																																				0.353	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			7	24	0	0	0	0.00308	0	7	24				
LATS1	9113	broad.mit.edu	37	6	150004668	150004668	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:150004668C>G	ENST00000543571.1	-	4	2104	c.1557G>C	c.(1555-1557)tgG>tgC	p.W519C	LATS1_ENST00000392273.3_Missense_Mutation_p.W519C|LATS1_ENST00000253339.5_Missense_Mutation_p.W519C|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGTGGTATCCAAGAAGGGT	0.458																																							uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.(1555-1557)TGG>TGC		LATS homolog 1							135.0	136.0	136.0					6																	150004668		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004668C>G	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1557G>C	6.37:g.150004668C>G	ENSP00000437550:p.Trp519Cys					LATS1_uc010kif.1_Missense_Mutation_p.W414C|LATS1_uc003qmv.1_Missense_Mutation_p.W519C|LATS1_uc003qmw.2_Missense_Mutation_p.W519C|LATS1_uc010kig.1_Missense_Mutation_p.W414C	p.W519C	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2105	-		Ovarian(120;0.0164)	519						Missense_Mutation	SNP	ENST00000543571.1	37	c.1557G>C	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454141	0.63290	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.56275	0.47;0.47;2.66	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000039	T	0.68256	0.2981	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65520	-0.6148	9	.	.	.	.	19.8134	0.96556	0.0:1.0:0.0:0.0	.	371;519;519	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	519	ENSP00000437550:W519C;ENSP00000253339:W519C;ENSP00000444678:W519C	.	W	-	3	0	LATS1	150046361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.767000	0.95098	0.655000	0.94253	TGG		0.458	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		11	56	0	0	0	0.000978	0	11	56				
SYNE1	23345	broad.mit.edu	37	6	152949440	152949440	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:152949440C>A	ENST00000367255.5	-	3	628	c.27G>T	c.(25-27)cgG>cgT	p.R9R	SYNE1_ENST00000423061.1_Silent_p.R9R|SYNE1_ENST00000367253.4_Silent_p.R9R|SYNE1_ENST00000466159.2_Silent_p.R9R|SYNE1_ENST00000367248.3_Silent_p.R9R|SYNE1_ENST00000448038.1_Silent_p.R9R|SYNE1_ENST00000413186.2_Silent_p.R9R|SYNE1_ENST00000341594.5_Silent_p.R9R|SYNE1_ENST00000265368.4_Silent_p.R9R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	Actin-binding.				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)		CCCGAGGACACCGGGAGGCCC	0.517										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.(25-27)CGG>CGT		spectrin repeat containing, nuclear envelope 1							94.0	98.0	97.0					6																	152949440		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152949440C>A	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.27G>T	6.37:g.152949440C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.R9R|SYNE1_uc003qou.3_Silent_p.R9R|SYNE1_uc010kjb.1_Silent_p.R9R|SYNE1_uc003qpa.1_Silent_p.R9R	p.R9R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	3	629	-		Ovarian(120;0.0955)	9			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.27G>T	CCDS5236.2																																																																																				0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	74	1	0	5.6714e-07	0.002096	6.87819e-07	29	74				
NOX3	50508	broad.mit.edu	37	6	155728288	155728288	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155728288T>A	ENST00000159060.2	-	12	1658	c.1556A>T	c.(1555-1557)aAg>aTg	p.K519M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	519					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGCAATCTGCTTGAACTCATT	0.488																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1555-1557)AAG>ATG		NADPH oxidase 3							231.0	184.0	200.0					6																	155728288		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155728288T>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1556A>T	6.37:g.155728288T>A	ENSP00000159060:p.Lys519Met						p.K519M	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	12	1659	-		Breast(66;0.0183)	519			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1556A>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225271	0.58668	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.34	1.15	0.20763	Ferric reductase, NAD binding (1);	0.340897	0.28555	N	0.014933	D	0.93485	0.7921	M	0.85859	2.78	0.28192	N	0.927703	P	0.47484	0.896	P	0.50791	0.65	D	0.89269	0.3603	10	0.66056	D	0.02	-9.872	5.8963	0.18941	0.0:0.3161:0.14:0.5439	.	519	Q9HBY0	NOX3_HUMAN	M	519	ENSP00000159060:K519M	ENSP00000159060:K519M	K	-	2	0	NOX3	155769980	0.994000	0.37717	0.991000	0.47740	0.756000	0.42949	0.289000	0.18957	-0.014000	0.14175	0.533000	0.62120	AAG		0.488	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	28	0	0	0	0.004482	0	8	28				
NOX3	50508	broad.mit.edu	37	6	155743851	155743851	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155743851G>C	ENST00000159060.2	-	10	1387	c.1285C>G	c.(1285-1287)Cag>Gag	p.Q429E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	429					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGGGGTCTGTGCCTCACTG	0.463																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1285-1287)CAG>GAG		NADPH oxidase 3							139.0	128.0	132.0					6																	155743851		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743851G>C	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1285C>G	6.37:g.155743851G>C	ENSP00000159060:p.Gln429Glu						p.Q429E	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1388	-		Breast(66;0.0183)	429			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1285C>G	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.461322	0.00171	.	.	ENSG00000074771	ENST00000159060	D	0.94758	-3.51	5.71	2.75	0.32379	Ferric reductase, NAD binding (1);	0.621864	0.15703	N	0.248816	T	0.68595	0.3018	N	0.16862	0.45	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61652	-0.7019	10	0.05833	T	0.94	-0.6132	1.7743	0.03018	0.159:0.2426:0.4102:0.1882	.	429	Q9HBY0	NOX3_HUMAN	E	429	ENSP00000159060:Q429E	ENSP00000159060:Q429E	Q	-	1	0	NOX3	155785543	0.029000	0.19370	0.001000	0.08648	0.007000	0.05969	0.737000	0.26144	0.732000	0.32470	0.643000	0.83706	CAG		0.463	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			31	36	0	0	0	0.009535	0	31	36				
NOX3	50508	broad.mit.edu	37	6	155749951	155749951	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155749951G>T	ENST00000159060.2	-	9	1224	c.1122C>A	c.(1120-1122)ctC>ctA	p.L374L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	374	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGGCTCCTGGAGGGCCTGTC	0.532																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1120-1122)CTC>CTA		NADPH oxidase 3							50.0	55.0	53.0					6																	155749951		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155749951G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1122C>A	6.37:g.155749951G>T							p.L374L	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1225	-		Breast(66;0.0183)	374			Extracellular (Potential).|FAD-binding FR-type.		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.1122C>A	CCDS5250.1																																																																																				0.532	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			10	43	1	0	0.00829132	0.008291	0.00870166	10	43				
IGF2R	3482	broad.mit.edu	37	6	160468351	160468351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:160468351G>T	ENST00000356956.1	+	16	2360	c.2212G>T	c.(2212-2214)Ggc>Tgc	p.G738C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	738					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGCGGGAGTGGGCTTCCCTGA	0.507																																							uc003qta.2		NA																	0				ovary(3)	3						c.(2212-2214)GGC>TGC		insulin-like growth factor 2 receptor precursor							75.0	72.0	73.0					6																	160468351		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468351G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2212G>T	6.37:g.160468351G>T	ENSP00000349437:p.Gly738Cys						p.G738C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	16	2360	+		Breast(66;0.000777)|Ovarian(120;0.0305)	738			5.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2212G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541935	0.65198	.	.	ENSG00000197081	ENST00000356956	T	0.15139	2.45	5.6	5.6	0.85130	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60687	-0.7214	10	0.87932	D	0	-8.7716	19.9823	0.97331	0.0:0.0:1.0:0.0	.	738	P11717	MPRI_HUMAN	C	738	ENSP00000349437:G738C	ENSP00000349437:G738C	G	+	1	0	IGF2R	160388341	1.000000	0.71417	0.177000	0.23020	0.216000	0.24613	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	GGC		0.507	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		7	9	1	0	0.000274275	0.004482	0.000300993	7	9				
PLG	5340	broad.mit.edu	37	6	161135903	161135903	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:161135903T>A	ENST00000308192.9	+	6	688	c.625T>A	c.(625-627)Tgg>Agg	p.W209R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	209	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCCAGGCCTGGGACTCTCA	0.473																																							uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(625-627)TGG>AGG		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						65.0	61.0	62.0					6																	161135903		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161135903T>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.625T>A	6.37:g.161135903T>A	ENSP00000308938:p.Trp209Arg						p.W209R	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	6	688	+			209			Kringle 2.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.625T>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720620	0.89205	.	.	ENSG00000122194	ENST00000308192	D	0.93426	-3.22	5.77	5.77	0.91146	Kringle (4);Kringle-like fold (1);	0.000000	0.37348	U	0.002123	D	0.98289	0.9433	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	10	0.87932	D	0	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	209	P00747	PLMN_HUMAN	R	209	ENSP00000308938:W209R	ENSP00000308938:W209R	W	+	1	0	PLG	161055893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.199000	0.70637	0.533000	0.62120	TGG		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		4	28	0	0	0	0.001168	0	4	28				
PLG	5340	broad.mit.edu	37	6	161135906	161135906	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:161135906G>T	ENST00000308192.9	+	6	691	c.628G>T	c.(628-630)Gac>Tac	p.D210Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	210	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGGCCTGGGACTCTCAGAG	0.468																																							uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(628-630)GAC>TAC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						65.0	61.0	62.0					6																	161135906		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161135906G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.628G>T	6.37:g.161135906G>T	ENSP00000308938:p.Asp210Tyr						p.D210Y	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	6	691	+			210			Kringle 2.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.628G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912798	0.72983	.	.	ENSG00000122194	ENST00000308192	T	0.69306	-0.39	5.77	1.94	0.25998	Kringle (4);Kringle-like fold (1);	0.355912	0.19537	U	0.111898	T	0.81083	0.4749	H	0.97682	4.055	0.80722	D	1	D	0.53745	0.962	P	0.62435	0.902	T	0.82965	-0.0195	10	0.72032	D	0.01	.	9.5055	0.39044	0.2883:0.0:0.7117:0.0	.	210	P00747	PLMN_HUMAN	Y	210	ENSP00000308938:D210Y	ENSP00000308938:D210Y	D	+	1	0	PLG	161055896	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	4.513000	0.60476	0.331000	0.23511	0.655000	0.94253	GAC		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		4	25	1	0	0.00116845	0.001168	0.00125927	4	25				
PARK2	5071	broad.mit.edu	37	6	162206851	162206851	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:162206851C>G	ENST00000366898.1	-	7	926	c.824G>C	c.(823-825)cGg>cCg	p.R275P	PARK2_ENST00000366894.1_Missense_Mutation_p.R84P|PARK2_ENST00000366892.1_Missense_Mutation_p.R275P|PARK2_ENST00000366896.1_Missense_Mutation_p.R126P|PARK2_ENST00000366897.1_Missense_Mutation_p.R247P|PARK2_ENST00000338468.3_Missense_Mutation_p.R84P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	275	SYT11 binding 2.		R -> W (in PARK2 and PARK; at heterozygosity it is associated with late onset Parkinson disease; impairs the ability to ubiquitinate SNCAIP; abolishes p53/TP53 transcriptional repression; dbSNP:rs34424986). {ECO:0000269|PubMed:10072423, ECO:0000269|PubMed:10824074, ECO:0000269|PubMed:11179010, ECO:0000269|PubMed:11971093, ECO:0000269|PubMed:12114481, ECO:0000269|PubMed:12116199, ECO:0000269|PubMed:12730996, ECO:0000269|PubMed:22956510}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AACAAACTGCCGATCATTGAG	0.478																																							uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(823-825)CGG>CCG		parkin isoform 1							102.0	87.0	92.0					6																	162206851		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162206851C>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.824G>C	6.37:g.162206851C>G	ENSP00000355865:p.Arg275Pro					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.R84P|PARK2_uc003qtw.3_Missense_Mutation_p.R84P|PARK2_uc003qty.3_Missense_Mutation_p.R247P|PARK2_uc003qtz.3_Missense_Mutation_p.R126P|PARK2_uc010kke.1_Missense_Mutation_p.R275P|PARK2_uc011egf.1_5'UTR	p.R275P	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	7	958	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	275			SYT11 binding 2.|RING-type 1; atypical.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.824G>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596136	0.86953	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.83483	2.645	0.48571	D	0.999673	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.995;1.0;1.0;0.997	D	0.93936	0.7219	10	0.54805	T	0.06	.	17.7106	0.88321	0.0:1.0:0.0:0.0	.	275;126;247;275;84	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	P	275;247;126;84;84;84;275;196	ENSP00000355865:R275P;ENSP00000355863:R247P;ENSP00000355862:R126P;ENSP00000355860:R84P;ENSP00000343589:R84P;ENSP00000355858:R275P	ENSP00000343589:R84P	R	-	2	0	PARK2	162126841	1.000000	0.71417	0.970000	0.41538	0.864000	0.49448	4.873000	0.63057	2.717000	0.92951	0.650000	0.86243	CGG		0.478	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			6	11	0	0	0	0.001168	0	6	11				
UNC93A	54346	broad.mit.edu	37	6	167717444	167717444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:167717444C>A	ENST00000230256.3	+	5	838	c.663C>A	c.(661-663)ttC>ttA	p.F221L	UNC93A_ENST00000366829.2_Missense_Mutation_p.F179L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGCTGCGTTCCTCCAACCCA	0.507																																							uc003qvq.2		NA																	0					0						c.(661-663)TTC>TTA		unc-93 homolog A isoform 1							151.0	129.0	137.0					6																	167717444		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167717444C>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.663C>A	6.37:g.167717444C>A	ENSP00000230256:p.Phe221Leu					UNC93A_uc003qvr.2_Missense_Mutation_p.F179L	p.F221L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	5	838	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	221			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.663C>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932530	0.34096	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.80909	-1.43;-1.24	4.58	-0.409	0.12378	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.69358	2.11	0.58432	D	0.999999	B;B	0.23058	0.079;0.021	B;B	0.23852	0.049;0.036	T	0.54248	-0.8322	10	0.05959	T	0.93	-18.0181	8.5788	0.33614	0.0:0.2166:0.0:0.7834	.	179;221	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	L	221;179	ENSP00000230256:F221L;ENSP00000355794:F179L	ENSP00000230256:F221L	F	+	3	2	UNC93A	167637434	1.000000	0.71417	0.010000	0.14722	0.002000	0.02628	0.942000	0.29017	-0.354000	0.08212	-0.379000	0.06801	TTC		0.507	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		17	30	1	0	6.94344e-10	0.006122	9.19416e-10	17	30				
TCP10	6953	broad.mit.edu	37	6	167790080	167790080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:167790080C>A	ENST00000397829.4	-	5	697	c.530G>T	c.(529-531)aGg>aTg	p.R177M	TCP10_ENST00000366827.2_Missense_Mutation_p.R177M	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	204						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGAGTCGGCCTTCCAGTGGG	0.527																																							uc003qvv.1		NA																	0				breast(1)	1						c.(529-531)AGG>ATG		t-complex 10							48.0	46.0	47.0					6																	167790080		1495	3051	4546	SO:0001583	missense	6953					cytosol		g.chr6:167790080C>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.530G>T	6.37:g.167790080C>A	ENSP00000380929:p.Arg177Met					TCP10_uc003qvu.2_Missense_Mutation_p.R177M|TCP10_uc003qvw.2_Missense_Mutation_p.R153M	p.R177M	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	5	742	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	204					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.530G>T	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634782	0.29068	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.46451	2.01;2.01;0.87	2.01	1.09	0.20402	.	.	.	.	.	T	0.35219	0.0924	M	0.61703	1.905	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.997	P;D;D	0.64237	0.884;0.923;0.923	T	0.06770	-1.0808	9	0.33940	T	0.23	.	3.8084	0.08786	0.0:0.7643:0.0:0.2357	.	177;204;204	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	M	177;177;173	ENSP00000355792:R177M;ENSP00000380929:R177M;ENSP00000426065:R173M	ENSP00000355792:R177M	R	-	2	0	TCP10	167710070	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.072000	0.11486	1.103000	0.41568	0.205000	0.17691	AGG		0.527	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		22	55	1	0	1.75199e-13	0.007291	2.59914e-13	22	55				
SNX8	29886	broad.mit.edu	37	7	2297015	2297015	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:2297015C>T	ENST00000222990.3	-	9	1161	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	373					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CAATGCGGGACTCCAGCTGCT	0.697																																							uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1117-1119)GAG>GAA		sorting nexin 8							42.0	40.0	40.0					7																	2297015		2199	4300	6499	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297015C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1119G>A	7.37:g.2297015C>T							p.E373E	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	9	1162	-		Ovarian(82;0.11)	373					A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.1119G>A	CCDS5331.1																																																																																				0.697	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			4	8	0	0	0	0.009096	0	4	8				
RADIL	55698	broad.mit.edu	37	7	4856904	4856904	+	Missense_Mutation	SNP	T	T	A	rs201312293	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:4856904T>A	ENST00000399583.3	-	7	1881	c.1694A>T	c.(1693-1695)tAc>tTc	p.Y565F	RADIL_ENST00000538469.1_Missense_Mutation_p.Y325F|RADIL_ENST00000536091.1_Silent_p.V511V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	565	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGAAGGCGTACAGCACCAC	0.632																																							uc003snj.1		NA																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1693-1695)TAC>TTC		Rap GTPase interactor							67.0	74.0	71.0					7																	4856904		2202	4299	6501	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856904T>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1694A>T	7.37:g.4856904T>A	ENSP00000382492:p.Tyr565Phe					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.Y70F|RADIL_uc011jwc.1_Missense_Mutation_p.Y325F|RADIL_uc011jwd.1_RNA	p.Y565F	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	7	1867	-		Ovarian(82;0.0175)	565			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1694A>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	t	17.46	3.394836	0.62066	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.38240	1.15;1.15	5.7	4.54	0.55810	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.55103	1.725	0.80722	D	1	P	0.43750	0.816	B	0.35039	0.194	T	0.04281	-1.0963	10	0.29301	T	0.29	-18.0204	10.6794	0.45804	0.0:0.0759:0.0:0.9241	.	565	Q96JH8	RADIL_HUMAN	F	565;536;299;325	ENSP00000382492:Y565F;ENSP00000442966:Y325F	ENSP00000320946:Y536F	Y	-	2	0	RADIL	4823430	1.000000	0.71417	0.867000	0.34043	0.958000	0.62258	2.542000	0.45744	0.987000	0.38709	0.375000	0.23000	TAC		0.632	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		35	12	0	0	0	0.002852	0	35	12				
AGMO	392636	broad.mit.edu	37	7	15470662	15470662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:15470662T>A	ENST00000342526.3	-	4	650	c.481A>T	c.(481-483)Aga>Tga	p.R161*		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	161					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAGACTGTCTCAGTGCTGTG	0.358																																							uc003stb.1		NA																	0					0						c.(481-483)AGA>TGA		transmembrane protein 195							125.0	124.0	125.0					7																	15470662		2203	4299	6502	SO:0001587	stop_gained	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15470662T>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.481A>T	7.37:g.15470662T>A	ENSP00000341662:p.Arg161*						p.R161*	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			4	651	-			161					A4D114|A6NCH5	Nonsense_Mutation	SNP	ENST00000342526.3	37	c.481A>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	38	7.042078	0.98021	.	.	ENSG00000187546	ENST00000342526	.	.	.	5.76	4.57	0.56435	.	0.051376	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4129	11.8202	0.52235	0.0:0.0:0.1458:0.8542	.	.	.	.	X	161	.	ENSP00000341662:R161X	R	-	1	2	AGMO	15437187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.241000	0.43097	2.204000	0.70986	0.482000	0.46254	AGA		0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		10	59	0	0	0	0.008291	0	10	59				
MEOX2	4223	broad.mit.edu	37	7	15725581	15725581	+	Nonsense_Mutation	SNP	G	G	T	rs376342964		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:15725581G>T	ENST00000262041.5	-	1	856	c.447C>A	c.(445-447)taC>taA	p.Y149*	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	149					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTGGCGGCCGTAGTCCCCCG	0.706																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)TAC>TAA		mesenchyme homeobox 2							36.0	44.0	41.0					7																	15725581		2188	4270	6458	SO:0001587	stop_gained	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725581G>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.447C>A	7.37:g.15725581G>T	ENSP00000262041:p.Tyr149*					MEOX2_uc011jxw.1_Nonsense_Mutation_p.Y149*	p.Y149*	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	728	-			149					B2R8I7|O75263|Q9UPL6	Nonsense_Mutation	SNP	ENST00000262041.5	37	c.447C>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	41	8.704678	0.98922	.	.	ENSG00000106511	ENST00000262041	.	.	.	5.43	3.6	0.41247	.	0.196696	0.44688	D	0.000440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-21.7896	6.6502	0.22957	0.4134:0.0:0.5866:0.0	.	.	.	.	X	149	.	ENSP00000262041:Y149X	Y	-	3	2	MEOX2	15692106	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.425000	0.44723	0.638000	0.30545	-0.150000	0.13652	TAC		0.706	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		51	38	1	0	4.86159e-25	0.00361	8.82924e-25	51	38				
DNAH11	8701	broad.mit.edu	37	7	21901539	21901539	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:21901539C>A	ENST00000409508.3	+	69	11302	c.11271C>A	c.(11269-11271)atC>atA	p.I3757I	DNAH11_ENST00000328843.6_Silent_p.I3764I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3764					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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGACGCATCTCTATCCTGA	0.502									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(11290-11292)ATC>ATA		dynein, axonemal, heavy chain 11							80.0	83.0	82.0					7																	21901539		2059	4218	6277	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21901539C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11271C>A	7.37:g.21901539C>A							p.I3764I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			70	11323	+			3764					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.11292C>A		.	.	.	.	.	.	.	.	.	.	C	1.743	-0.491142	0.04322	.	.	ENSG00000105877	ENST00000421290	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	T	0.71341	0.3328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69273	-0.5188	4	.	.	.	.	15.0807	0.72113	0.0:0.8585:0.1415:0.0	.	.	.	.	I	152	.	.	L	+	1	0	DNAH11	21868064	0.085000	0.21516	0.980000	0.43619	0.057000	0.15508	0.387000	0.20718	2.703000	0.92315	0.655000	0.94253	CTC		0.502	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		26	8	1	0	4.87955e-14	0.005443	7.3295e-14	26	8				
SKAP2	8935	broad.mit.edu	37	7	26765118	26765118	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:26765118T>A	ENST00000345317.2	-	9	1038	c.725A>T	c.(724-726)cAt>cTt	p.H242L	SKAP2_ENST00000539623.1_Missense_Mutation_p.H70L|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	242					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGGTAGAGGATGATCAACATC	0.303																																							uc003syc.2		NA																	0				pancreas(1)	1						c.(724-726)CAT>CTT		src kinase associated phosphoprotein 2							135.0	135.0	135.0					7																	26765118		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26765118T>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.725A>T	7.37:g.26765118T>A	ENSP00000005587:p.His242Leu					SKAP2_uc011jzi.1_Missense_Mutation_p.H70L|SKAP2_uc011jzj.1_Missense_Mutation_p.H227L	p.H242L	NM_003930	NP_003921	O75563	SKAP2_HUMAN			9	1018	-			242					A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.725A>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	T	7.592	0.670882	0.14776	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.29142	2.05;1.58	5.95	4.75	0.60458	.	0.521197	0.23793	N	0.044519	T	0.18718	0.0449	L	0.29908	0.895	0.28374	N	0.919849	P;B	0.34462	0.454;0.358	B;B	0.24394	0.053;0.05	T	0.10451	-1.0629	10	0.28530	T	0.3	-16.6528	10.757	0.46243	0.0:0.0:0.17:0.83	.	227;242	B7Z5N4;O75563	.;SKAP2_HUMAN	L	242;70;227	ENSP00000005587:H242L;ENSP00000443593:H70L	ENSP00000005587:H242L	H	-	2	0	SKAP2	26731643	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	2.558000	0.45879	2.279000	0.76181	0.533000	0.62120	CAT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			33	25	0	0	0	0.003271	0	33	25				
PKD1L1	168507	broad.mit.edu	37	7	47852827	47852827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:47852827C>A	ENST00000289672.2	-	49	7288	c.7238G>T	c.(7237-7239)gGc>gTc	p.G2413V	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2413					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTTCTCAGGGCCTCCAACTTC	0.547																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7237-7239)GGC>GTC		polycystin-1L1							113.0	116.0	115.0					7																	47852827		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47852827C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7238G>T	7.37:g.47852827C>A	ENSP00000289672:p.Gly2413Val					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.G140V	p.G2413V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			49	7238	-			2413			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7238G>T	CCDS34633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.495262|2.495262	0.44352|0.44352	.|.	.|.	ENSG00000158683|ENSG00000158683	ENST00000289672|ENST00000433506	T|.	0.21191|.	2.02|.	4.89|4.89	-0.7|-0.7	0.11273|0.11273	.|.	1.099720|.	0.06942|.	N|.	0.813026|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P|.	0.48764|.	0.915|.	B|.	0.39339|.	0.297|.	T|T	0.34204|0.34204	-0.9838|-0.9838	10|5	0.54805|.	T|.	0.06|.	-6.3445|-6.3445	4.3085|4.3085	0.10958|0.10958	0.0:0.3426:0.1775:0.4799|0.0:0.3426:0.1775:0.4799	.|.	2413|.	Q8TDX9|.	PK1L1_HUMAN|.	V|S	2413|3	ENSP00000289672:G2413V|.	ENSP00000289672:G2413V|.	G|R	-|-	2|3	0|2	PKD1L1|PKD1L1	47819352|47819352	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.017000|0.017000	0.09413|0.09413	-0.564000|-0.564000	0.05936|0.05936	-0.035000|-0.035000	0.13691|0.13691	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.547	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		37	26	1	0	1.30998e-17	0.005524	2.13205e-17	37	26				
ZNF680	340252	broad.mit.edu	37	7	63981790	63981790	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:63981790T>A	ENST00000309683.6	-	4	1493	c.1342A>T	c.(1342-1344)Acc>Tcc	p.T448S	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTAGTAAGGGTTGAAAATAAA	0.363																																							uc003tta.2		NA																	0				ovary(1)	1						c.(1342-1344)ACC>TCC		zinc finger protein 680 isoform 1							40.0	41.0	41.0					7																	63981790		2202	4299	6501	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63981790T>A	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1342A>T	7.37:g.63981790T>A	ENSP00000309330:p.Thr448Ser					ZNF680_uc010kzr.2_Missense_Mutation_p.T375S	p.T448S	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	1515	-		Lung NSC(55;0.118)|all_lung(88;0.243)	448			C2H2-type 10.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.1342A>T	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.921238	0.00498	.	.	ENSG00000173041	ENST00000309683	T	0.35605	1.3	1.32	0.226	0.15353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	N	0.01473	-0.845	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.14117	-1.0484	9	0.07644	T	0.81	.	4.5275	0.11988	0.0:0.0:0.5958:0.4042	.	448	Q8NEM1	ZN680_HUMAN	S	448	ENSP00000309330:T448S	ENSP00000309330:T448S	T	-	1	0	ZNF680	63619225	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-3.802000	0.00362	-0.199000	0.10317	-0.636000	0.03981	ACC		0.363	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		14	12	0	0	0	0.003163	0	14	12				
KCTD7	154881	broad.mit.edu	37	7	66098289	66098289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:66098289G>T	ENST00000275532.3	+	2	356	c.172G>T	c.(172-174)Gga>Tga	p.G58*	KCTD7_ENST00000443322.1_Nonsense_Mutation_p.G58*	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	58	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTTAACATCGGAGGGGCTCA	0.572																																							uc003tve.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(172-174)GGA>TGA		potassium channel tetramerisation domain							118.0	88.0	98.0					7																	66098289		2203	4300	6503	SO:0001587	stop_gained	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66098289G>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.172G>T	7.37:g.66098289G>T	ENSP00000275532:p.Gly58*					RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Nonsense_Mutation_p.G58*	p.G58*	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN			2	334	+			58			BTB.		A4D2M4|Q8IVR0	Nonsense_Mutation	SNP	ENST00000275532.3	37	c.172G>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	36	5.879972	0.97062	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2382	0.87005	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000275532:G58X	G	+	1	0	KCTD7	65735724	1.000000	0.71417	0.960000	0.40013	0.942000	0.58702	9.227000	0.95236	2.371000	0.80710	0.456000	0.33151	GGA		0.572	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		17	13	1	0	2.48551e-13	0.00499	3.65724e-13	17	13				
RABGEF1	27342	broad.mit.edu	37	7	66270381	66270381	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:66270381C>G	ENST00000284957.5	+	8	1152	c.1075C>G	c.(1075-1077)Ctg>Gtg	p.L359V	RABGEF1_ENST00000437078.2_Missense_Mutation_p.L373V|KCTD7_ENST00000380828.2_Missense_Mutation_p.L399V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L359V|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L372V|KCTD7_ENST00000451741.2_Missense_Mutation_p.L359V|KCTD7_ENST00000510829.2_Missense_Mutation_p.L359V			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	576					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTTCACCAATCTGGTGAGTAA	0.512																																							uc011kee.1		NA																	0				ovary(1)	1						c.(1117-1119)CTG>GTG		RAB guanine nucleotide exchange factor (GEF) 1							82.0	72.0	76.0					7																	66270381		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66270381C>G	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1075C>G	7.37:g.66270381C>G	ENSP00000284957:p.Leu359Val					RABGEF1_uc003tvf.2_Missense_Mutation_p.L232V|RABGEF1_uc003tvg.2_Missense_Mutation_p.L167V|RABGEF1_uc010lag.2_Missense_Mutation_p.L359V|RABGEF1_uc003tvh.2_Missense_Mutation_p.L359V|RABGEF1_uc003tvi.2_Missense_Mutation_p.L193V	p.L373V	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			8	1281	+			576			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.1117C>G	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918993	0.73098	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.6	3.47	0.39725	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.87578	0.995;0.927;0.998	T	0.76154	-0.3063	10	0.87932	D	0	-14.119	12.0543	0.53524	0.0:0.7863:0.0:0.2137	.	373;193;576	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	V	443;399;359;359;275;359;359;372;373	ENSP00000370208:L399V;ENSP00000421124:L359V;ENSP00000398177:L359V;ENSP00000284957:L359V;ENSP00000415815:L359V;ENSP00000403429:L372V;ENSP00000390480:L373V	ENSP00000370207:L443V	L	+	1	2	RABGEF1;KCTD7	65907816	0.998000	0.40836	0.988000	0.46212	0.995000	0.86356	3.698000	0.54771	1.369000	0.46134	0.655000	0.94253	CTG		0.512	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		20	46	0	0	0	0.003954	0	20	46				
POM121C	100101267	broad.mit.edu	37	7	75051125	75051125	+	Missense_Mutation	SNP	C	C	G	rs587615322		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:75051125C>G	ENST00000257665.5	-	11	3135	c.3136G>C	c.(3136-3138)Ggt>Cgt	p.G1046R	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.G804R			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1046	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGCTGCACCGAAGGAGAAG	0.647																																							uc003udk.3		NA																	0					0						c.(2410-2412)GGT>CGT		POM121 membrane glycoprotein (rat)-like							27.0	34.0	32.0					7																	75051125		2201	4297	6498	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051125C>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3136G>C	7.37:g.75051125C>G	ENSP00000257665:p.Gly1046Arg						p.G804R	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3295	-			1046			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2410G>C		.	.	.	.	.	.	.	.	.	.	C	11.12	1.544180	0.27563	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.30448	2.97;1.53	2.77	1.86	0.25419	.	0.000000	0.38217	N	0.001769	T	0.50222	0.1603	M	0.78049	2.395	0.09310	N	0.999999	D	0.71674	0.998	D	0.70487	0.969	T	0.35649	-0.9780	10	0.87932	D	0	.	8.489	0.33089	0.2329:0.7671:0.0:0.0	.	1046	A8CG34	P121C_HUMAN	R	1046;804	ENSP00000257665:G1046R;ENSP00000414208:G804R	ENSP00000257665:G1046R	G	-	1	0	POM121C	74889061	0.827000	0.29292	0.024000	0.17045	0.127000	0.20565	2.467000	0.45093	0.465000	0.27167	0.404000	0.27445	GGT		0.647	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		8	56	0	0	0	0.000978	0	8	56				
POM121C	100101267	broad.mit.edu	37	7	75051152	75051152	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:75051152C>A	ENST00000257665.5	-	11	3108	c.3109G>T	c.(3109-3111)Ggc>Tgc	p.G1037C	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.G795C			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1037	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGAGCCGCCAAAGGCGGGC	0.667																																							uc003udk.3		NA																	0					0						c.(2383-2385)GGC>TGC		POM121 membrane glycoprotein (rat)-like							19.0	27.0	24.0					7																	75051152		2182	4272	6454	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051152C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3109G>T	7.37:g.75051152C>A	ENSP00000257665:p.Gly1037Cys						p.G795C	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3268	-			1037			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2383G>T		.	.	.	.	.	.	.	.	.	.	C	13.45	2.239770	0.39598	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.37235	2.66;1.21	2.89	2.89	0.33648	.	0.186230	0.26052	N	0.026632	T	0.58949	0.2158	M	0.80183	2.485	0.40780	D	0.983164	D	0.89917	1.0	D	0.97110	1.0	T	0.66256	-0.5969	10	0.87932	D	0	.	11.3405	0.49531	0.0:1.0:0.0:0.0	.	1037	A8CG34	P121C_HUMAN	C	1037;795	ENSP00000257665:G1037C;ENSP00000414208:G795C	ENSP00000257665:G1037C	G	-	1	0	POM121C	74889088	0.984000	0.35163	0.249000	0.24280	0.042000	0.13812	3.538000	0.53597	1.606000	0.50161	0.404000	0.27445	GGC		0.667	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		31	31	1	0	1.26612e-14	0.003271	1.94021e-14	31	31				
SEMA3D	223117	broad.mit.edu	37	7	84644484	84644484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:84644484G>T	ENST00000284136.6	-	14	1637	c.1594C>A	c.(1594-1596)Cac>Aac	p.H532N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	532					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCGCATCTGTGCAAGGAGAGC	0.468																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(1594-1596)CAC>AAC		semaphorin 3D precursor							150.0	139.0	142.0					7																	84644484		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644484G>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1594C>A	7.37:g.84644484G>T	ENSP00000284136:p.His532Asn					SEMA3D_uc010led.2_Missense_Mutation_p.H532N|SEMA3D_uc003uib.2_Missense_Mutation_p.H171N	p.H532N	NM_152754	NP_689967	O95025	SEM3D_HUMAN			14	1634	-			532					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1594C>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566516	0.65651	.	.	ENSG00000153993	ENST00000284136	T	0.22336	1.96	5.75	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.128144	0.64402	N	0.000001	T	0.26738	0.0654	M	0.72479	2.2	0.80722	D	1	B	0.31241	0.315	B	0.25614	0.062	T	0.07673	-1.0760	10	0.87932	D	0	.	16.24	0.82402	0.0:0.0:0.8661:0.1339	.	532	O95025	SEM3D_HUMAN	N	532	ENSP00000284136:H532N	ENSP00000284136:H532N	H	-	1	0	SEMA3D	84482420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.428000	0.73383	1.420000	0.47138	0.561000	0.74099	CAC		0.468	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		58	74	1	0	1.00798e-23	0.00361	1.80785e-23	58	74				
SEMA3D	223117	broad.mit.edu	37	7	84727122	84727122	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:84727122T>A	ENST00000284136.6	-	2	354	c.311A>T	c.(310-312)aAg>aTg	p.K104M	SEMA3D_ENST00000444867.1_Splice_Site_p.K104M	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	104	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATACTGACCTTCTTAAAATT	0.353																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(310-312)AAG>ATG		semaphorin 3D precursor							65.0	69.0	68.0					7																	84727122		2203	4296	6499	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84727122T>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.312+1A>T	7.37:g.84727122T>A						SEMA3D_uc010led.2_Missense_Mutation_p.K104M|SEMA3D_uc010lee.1_Missense_Mutation_p.K104M	p.K104M	NM_152754	NP_689967	O95025	SEM3D_HUMAN			2	351	-			104			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.311A>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586570	0.66105	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.12361	2.69;2.69	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.042841	0.85682	D	0.000000	T	0.35422	0.0931	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.72982	0.979;0.904	T	0.04708	-1.0932	10	0.66056	D	0.02	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	104;104	C9JYT6;O95025	.;SEM3D_HUMAN	M	104	ENSP00000284136:K104M;ENSP00000401366:K104M	ENSP00000284136:K104M	K	-	2	0	SEMA3D	84565058	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.934000	0.75880	2.241000	0.73720	0.482000	0.46254	AAG		0.353	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	Missense_Mutation	68	91	0	0	0	0.00361	0	68	91				
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:86394822G>T	ENST00000361669.2	+	2	1460	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	GRM3_ENST00000394720.2_Missense_Mutation_p.D119Y|GRM3_ENST00000439827.1_Missense_Mutation_p.D121Y|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	121					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACAAAAGTGGATGAAGCTGA	0.438																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(361-363)GAT>TAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						166.0	153.0	157.0					7																	86394822		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394822G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.361G>T	7.37:g.86394822G>T	ENSP00000355316:p.Asp121Tyr					GRM3_uc010lef.2_Missense_Mutation_p.D119Y|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.D121Y	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1460	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		121			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.361G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337649	0.81911	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.86164	-2.08;-2.08;-2.08	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.87827	2.91	0.80722	D	1	D;D	0.67145	0.996;0.963	D;P	0.71656	0.974;0.904	D	0.94815	0.7982	10	0.87932	D	0	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	121;121	G5E9K2;Q14832	.;GRM3_HUMAN	Y	121;121;119	ENSP00000355316:D121Y;ENSP00000398767:D121Y;ENSP00000378209:D119Y	ENSP00000355316:D121Y	D	+	1	0	GRM3	86232758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.732000	0.93576	0.655000	0.94253	GAT		0.438	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			76	211	1	0	1.63007e-36	0.00361	3.08879e-36	76	211				
ABCB1	5243	broad.mit.edu	37	7	87148649	87148649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:87148649C>A	ENST00000265724.3	-	24	3337	c.2920G>T	c.(2920-2922)Gtt>Ttt	p.V974F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.V910F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	974	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TACAACAGAACATCCTCAAAG	0.403																																							uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2920-2922)GTT>TTT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						88.0	80.0	83.0					7																	87148649		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148649C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2920G>T	7.37:g.87148649C>A	ENSP00000265724:p.Val974Phe					ABCB1_uc011khc.1_Missense_Mutation_p.V910F	p.V974F	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3338	-	Esophageal squamous(14;0.00164)		974			ABC transmembrane type-1 2.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2920G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768264	0.69878	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91407	-2.84;-2.84	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.453488	0.24231	N	0.040344	D	0.94434	0.8209	L	0.53729	1.69	0.80722	D	1	P;D	0.89917	0.848;1.0	P;D	0.87578	0.71;0.998	D	0.93672	0.6991	10	0.49607	T	0.09	-32.1004	20.0366	0.97561	0.0:1.0:0.0:0.0	.	910;974	B5AK60;P08183	.;MDR1_HUMAN	F	755;974;910	ENSP00000265724:V974F;ENSP00000444095:V910F	ENSP00000265724:V974F	V	-	1	0	ABCB1	86986585	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.509000	0.81698	2.736000	0.93811	0.561000	0.74099	GTT		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		21	26	1	0	7.45023e-12	0.010504	1.05429e-11	21	26				
CFAP69	79846	broad.mit.edu	37	7	89891302	89891302	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:89891302G>T	ENST00000389297.4	+	4	539	c.288G>T	c.(286-288)ctG>ctT	p.L96L	C7orf63_ENST00000316089.8_Silent_p.L96L|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.L96L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		96										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTCTGAATCTGTGTTCAGGAA	0.249																																							uc010lep.2		NA																	0				ovary(1)	1						c.(286-288)CTG>CTT		hypothetical protein LOC79846 isoform 1							44.0	47.0	46.0					7																	89891302		1780	4042	5822	SO:0001819	synonymous_variant	79846						binding	g.chr7:89891302G>T																												ENST00000389297.4:c.288G>T	7.37:g.89891302G>T						C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.L96L|C7orf63_uc010leo.2_Silent_p.L96L	p.L96L	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			4	539	+			96					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.288G>T	CCDS43613.2																																																																																				0.249	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			152	37	1	0	2.27665e-64	0.00361	4.41254e-64	152	37				
HEPACAM2	253012	broad.mit.edu	37	7	92855759	92855759	+	Start_Codon_SNP	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:92855759T>C	ENST00000394468.2	-	1	78	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HEPACAM2_ENST00000453812.2_Start_Codon_SNP_p.M1V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	1					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TCCTGTCCCATGCATGCAGTG	0.493																																							uc003umm.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(1-3)ATG>GTG		HEPACAM family member 2 isoform 1							96.0	90.0	92.0					7																	92855759		1949	4150	6099	SO:0001582	initiator_codon_variant	253012					integral to membrane		g.chr7:92855759T>C	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1A>G	7.37:g.92855759T>C	ENSP00000377980:p.Met1Val					HEPACAM2_uc011khy.1_Missense_Mutation_p.M1V	p.M1V	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			1	24	-			1					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1A>G	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.768299	0.31320	.	.	ENSG00000188175	ENST00000394468;ENST00000453812	T;T	0.60171	0.74;0.21	4.94	3.69	0.42338	.	0.493661	0.16583	U	0.208134	T	0.35682	0.0940	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.16364	-1.0405	9	0.15952	T	0.53	-29.7729	6.3745	0.21499	0.0:0.1222:0.1501:0.7277	.	1;1	E9PDV5;A8MVW5	.;HECA2_HUMAN	V	1	ENSP00000377980:M1V;ENSP00000390204:M1V	ENSP00000377980:M1V	M	-	1	0	HEPACAM2	92693695	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	1.723000	0.38053	2.158000	0.67659	0.477000	0.44152	ATG		0.493	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	Missense_Mutation	8	252	0	0	0	0.00308	0	8	252				
CALCR	799	broad.mit.edu	37	7	93067545	93067545	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:93067545G>T	ENST00000394441.1	-	9	1155	c.840C>A	c.(838-840)acC>acA	p.T280T	CALCR_ENST00000359558.2_Silent_p.T314T|CALCR_ENST00000426151.1_Silent_p.T280T|CALCR_ENST00000360249.4_Silent_p.T296T|CALCR_ENST00000421592.1_Silent_p.T296T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	314					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACACGGCCCTGGTAATAGCAT	0.383																																							uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(940-942)ACC>ACA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						132.0	128.0	130.0					7																	93067545		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93067545G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.840C>A	7.37:g.93067545G>T						CALCR_uc011kia.1_Silent_p.T94T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.T280T|CALCR_uc003umw.2_Silent_p.T280T	p.T314T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1203	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		296			Helical; Name=4; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.942C>A	CCDS5631.1																																																																																				0.383	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		313	40	1	0	3.91224e-161	0.00361	7.64424e-161	313	40				
MUC17	140453	broad.mit.edu	37	7	100677982	100677982	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:100677982T>A	ENST00000306151.4	+	3	3349	c.3285T>A	c.(3283-3285)acT>acA	p.T1095T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1095	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACCTCAACTTATAGTGAAG	0.507																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3283-3285)ACT>ACA		mucin 17 precursor							476.0	384.0	415.0					7																	100677982		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677982T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3285T>A	7.37:g.100677982T>A						MUC17_uc010lho.1_RNA	p.T1095T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3338	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1095			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3285T>A	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		240	108	0	0	0	0.00361	0	240	108				
KMT2E	55904	broad.mit.edu	37	7	104753045	104753045	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:104753045C>A	ENST00000311117.3	+	27	5387	c.4842C>A	c.(4840-4842)aaC>aaA	p.N1614K	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.N1572K|KMT2E_ENST00000257745.4_Missense_Mutation_p.N1614K	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1614	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCTCTCAGAACCCTACCATTC	0.547																																							uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4840-4842)AAC>AAA		myeloid/lymphoid or mixed-lineage leukemia 5							167.0	141.0	149.0					7																	104753045		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104753045C>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4842C>A	7.37:g.104753045C>A	ENSP00000312379:p.Asn1614Lys					MLL5_uc010ljc.2_Missense_Mutation_p.N1614K|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.N348K	p.N1614K	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5376	+			1614			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4842C>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	1.879	-0.458227	0.04508	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91577	-2.87;-2.6;-2.87	3.39	1.53	0.23141	.	0.175228	0.27185	N	0.020530	T	0.74068	0.3668	N	0.14661	0.345	0.80722	D	1	P;B	0.36535	0.557;0.008	B;B	0.28139	0.086;0.007	T	0.68021	-0.5519	10	0.07030	T	0.85	.	7.8147	0.29252	0.0:0.7053:0.0:0.2947	.	1534;1614	F8W6H1;Q8IZD2	.;MLL5_HUMAN	K	1614;1572;1534;1614	ENSP00000312379:N1614K;ENSP00000335599:N1572K;ENSP00000257745:N1614K	ENSP00000257745:N1614K	N	+	3	2	MLL5	104540281	0.998000	0.40836	0.571000	0.28486	0.737000	0.42083	0.911000	0.28584	0.110000	0.17919	0.305000	0.20034	AAC		0.547	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			58	28	1	0	5.52965e-18	0.00361	9.08172e-18	58	28				
NRCAM	4897	broad.mit.edu	37	7	107836209	107836209	+	Missense_Mutation	SNP	C	C	G	rs138146461		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:107836209C>G	ENST00000425651.2	-	12	1458	c.1459G>C	c.(1459-1461)Gag>Cag	p.E487Q	NRCAM_ENST00000379028.3_Missense_Mutation_p.E487Q|NRCAM_ENST00000413765.2_Missense_Mutation_p.E468Q|NRCAM_ENST00000379022.4_Missense_Mutation_p.E487Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.E468Q|NRCAM_ENST00000351718.4_Missense_Mutation_p.E481Q	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	487	Ig-like 5.			E -> Q (in Ref. 9; CAA04507). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTTACCACTCGATGGTTGGG	0.418																																							uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(1459-1461)GAG>CAG		neuronal cell adhesion molecule isoform A							113.0	96.0	102.0					7																	107836209		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107836209C>G		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1459G>C	7.37:g.107836209C>G	ENSP00000401244:p.Glu487Gln					NRCAM_uc003vfc.2_Missense_Mutation_p.E481Q|NRCAM_uc011kmk.1_Missense_Mutation_p.E482Q|NRCAM_uc003vfd.2_Missense_Mutation_p.E463Q|NRCAM_uc003vfe.2_Missense_Mutation_p.E463Q	p.E487Q	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			15	1930	-			487	E -> Q (in Ref. 8; CAA04507).		Ig-like 5.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1459G>C	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972254	0.34754	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171767	0.52532	D	0.000068	T	0.54647	0.1871	N	0.13272	0.32	0.39169	D	0.962568	P;P;P;P;B	0.49862	0.851;0.929;0.877;0.851;0.16	P;P;P;B;B	0.47864	0.509;0.525;0.559;0.423;0.199	T	0.54510	-0.8283	10	0.19147	T	0.46	.	14.3644	0.66795	0.0:0.852:0.148:0.0	.	487;468;468;481;487	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Q	487;487;468;487;481;468;487;487;481	ENSP00000368314:E487Q;ENSP00000407858:E468Q;ENSP00000325269:E481Q;ENSP00000368310:E468Q;ENSP00000401244:E487Q;ENSP00000368308:E487Q	ENSP00000325269:E481Q	E	-	1	0	NRCAM	107623445	1.000000	0.71417	0.964000	0.40570	0.092000	0.18411	1.877000	0.39598	2.413000	0.81919	0.563000	0.77884	GAG		0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		4	15	0	0	0	0.009096	0	4	15				
SPAM1	6677	broad.mit.edu	37	7	123599874	123599874	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:123599874G>A	ENST00000439500.1	+	6	1994	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SPAM1_ENST00000402183.2_Missense_Mutation_p.D461N|SPAM1_ENST00000340011.5_Missense_Mutation_p.D461N|SPAM1_ENST00000460182.1_Missense_Mutation_p.D461N|SPAM1_ENST00000223028.7_Missense_Mutation_p.D461N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	461					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTATTGCTGATGGTGTCTG	0.388																																							uc003vld.2		NA																	0				ovary(3)|kidney(1)	4						c.(1381-1383)GAT>AAT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						167.0	155.0	159.0					7																	123599874		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599874G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1381G>A	7.37:g.123599874G>A	ENSP00000402123:p.Asp461Asn					SPAM1_uc003vle.2_Missense_Mutation_p.D461N|SPAM1_uc011koa.1_Missense_Mutation_p.D117N|SPAM1_uc003vlf.3_Missense_Mutation_p.D461N|SPAM1_uc010lku.2_Missense_Mutation_p.D461N	p.D461N	NM_153189	NP_694859	P38567	HYALP_HUMAN			6	1783	+			461					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1381G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227820	0.22542	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.8	0.979	0.19745	.	1.346980	0.04393	N	0.362727	T	0.13072	0.0317	L	0.27053	0.805	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.11329	0.006;0.006	T	0.35624	-0.9781	10	0.19590	T	0.45	-8.212	9.0481	0.36358	0.4213:0.0:0.5787:0.0	.	461;461	Q8TC30;P38567	.;HYALP_HUMAN	N	461	ENSP00000386028:D461N;ENSP00000417934:D461N;ENSP00000345849:D461N;ENSP00000402123:D461N;ENSP00000223028:D461N	ENSP00000223028:D461N	D	+	1	0	SPAM1	123387110	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.367000	0.20382	-0.026000	0.13895	0.650000	0.86243	GAT		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			26	36	0	0	0	0.004656	0	26	36				
PAX4	5078	broad.mit.edu	37	7	127251591	127251591	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:127251591C>G	ENST00000341640.2	-	8	1092	c.887G>C	c.(886-888)tGg>tCg	p.W296S	PAX4_ENST00000463946.1_Missense_Mutation_p.W294S|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000378740.2_Missense_Mutation_p.W296S	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	304	Transcription repression.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATTCTTACCCCAGCAGGGCTT	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(886-888)TGG>TCG		paired box 4							106.0	109.0	108.0					7																	127251591		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251591C>G		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.887G>C	7.37:g.127251591C>G	ENSP00000339906:p.Trp296Ser					PAX4_uc003vmf.2_Missense_Mutation_p.W294S|PAX4_uc003vmg.1_Missense_Mutation_p.W296S	p.W296S	NM_006193	NP_006184	O43316	PAX4_HUMAN			8	1093	-			304			Transcription repression.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.887G>C	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782444	0.49891	.	.	ENSG00000106331	ENST00000341640;ENST00000378740;ENST00000463946	D;D	0.93247	-3.19;-3.05	5.34	4.45	0.53987	.	2.383230	0.01441	N	0.015066	D	0.93690	0.7984	L	0.47190	1.495	0.80722	D	1	D;B;B	0.56035	0.974;0.181;0.074	P;B;B	0.50659	0.647;0.092;0.062	T	0.82969	-0.0193	10	0.21540	T	0.41	.	11.6806	0.51455	0.1773:0.8227:0.0:0.0	.	296;304;294	O43316-4;O43316;G3V4Q1	.;PAX4_HUMAN;.	S	296;304;294	ENSP00000339906:W296S;ENSP00000451923:W294S	ENSP00000339906:W296S	W	-	2	0	PAX4	127038827	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.458000	0.35223	1.374000	0.46228	0.650000	0.86243	TGG		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			23	59	0	0	0	0.005443	0	23	59				
LOC407835	407835	broad.mit.edu	37	7	128766745	128766745	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:128766745C>A	ENST00000471777.1	+	0	0																											CCTTTCTCACCCAGAAAGCCA	0.607																																							uc003voo.2		NA																	0					0						c.(172-174)ACC>ACA		SubName: Full=cDNA FLJ35806 fis, clone TESTI2005987, highly similar to Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.12.2); SubName: Full=Mitogen-activated protein kinase kinase 2, isoform CRA_d;																																						407835							g.chr7:128766745C>A																													7.37:g.128766745C>A							p.T58T	NR_002144						1	421	+									Silent	SNP	ENST00000471777.1	37	c.174C>A																																																																																					0.607	RP11-286H14.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350981.1			25	22	1	0	2.14196e-07	0.007291	2.64443e-07	25	22				
STRA8	346673	broad.mit.edu	37	7	134916754	134916754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:134916754G>C	ENST00000275764.3	+	1	24	c.24G>C	c.(22-24)aaG>aaC	p.K8N		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGTGGACAAGATCCTCTTTT	0.483																																							uc011kpx.1		NA																	0					0						c.(22-24)AAG>AAC		STRA8							129.0	121.0	124.0					7																	134916754		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134916754G>C	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.24G>C	7.37:g.134916754G>C	ENSP00000275764:p.Lys8Asn						p.K8N	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			1	24	+			8						Missense_Mutation	SNP	ENST00000275764.3	37	c.24G>C	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782614	0.31502	.	.	ENSG00000146857	ENST00000275764	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	1	B	0.30889	0.299	B	0.22152	0.038	T	0.15983	-1.0418	8	0.56958	D	0.05	-0.0247	9.7978	0.40746	0.0:0.0:1.0:0.0	.	8	Q7Z7C7	STRA8_HUMAN	N	8	.	ENSP00000275764:K8N	K	+	3	2	STRA8	134567294	0.073000	0.21202	0.020000	0.16555	0.298000	0.27526	0.923000	0.28757	2.009000	0.58944	0.561000	0.74099	AAG		0.483	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		52	27	0	0	0	0.00361	0	52	27				
NUP205	23165	broad.mit.edu	37	7	135282896	135282896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:135282896C>T	ENST00000285968.6	+	15	2241	c.2215C>T	c.(2215-2217)Ctt>Ttt	p.L739F	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	739					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTGCAGTTCCTTAGAGACTC	0.458																																							uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2215-2217)CTT>TTT		nucleoporin 205kDa							204.0	210.0	208.0					7																	135282896		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282896C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2215C>T	7.37:g.135282896C>T	ENSP00000285968:p.Leu739Phe						p.L739F	NM_015135	NP_055950	Q92621	NU205_HUMAN			15	2246	+			739					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2215C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479321	0.84747	.	.	ENSG00000155561	ENST00000285968	T	0.37235	1.21	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.60767	-0.7198	10	0.72032	D	0.01	-18.3168	19.8824	0.96903	0.0:1.0:0.0:0.0	.	739	Q92621	NU205_HUMAN	F	739	ENSP00000285968:L739F	ENSP00000285968:L739F	L	+	1	0	NUP205	134933436	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.355000	0.44107	2.696000	0.92011	0.591000	0.81541	CTT		0.458	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			112	62	0	0	0	0.00361	0	112	62				
CHRM2	1129	broad.mit.edu	37	7	136700567	136700567	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:136700567A>G	ENST00000445907.2	+	3	1483	c.955A>G	c.(955-957)Aac>Gac	p.N319D	hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N319D|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.N319D|CHRM2_ENST00000397608.3_Missense_Mutation_p.N319D|CHRM2_ENST00000402486.3_Missense_Mutation_p.N319D|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N319D|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	319					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAAAGATGAGAACTCTAAGCA	0.468																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(955-957)AAC>GAC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						98.0	100.0	99.0					7																	136700567		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700567A>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.955A>G	7.37:g.136700567A>G	ENSP00000399745:p.Asn319Asp					CHRM2_uc003vtg.1_Missense_Mutation_p.N319D|CHRM2_uc003vtj.1_Missense_Mutation_p.N319D|CHRM2_uc003vtk.1_Missense_Mutation_p.N319D|CHRM2_uc003vtl.1_Missense_Mutation_p.N319D|CHRM2_uc003vtm.1_Missense_Mutation_p.N319D|CHRM2_uc003vti.1_Missense_Mutation_p.N319D|CHRM2_uc003vto.1_Missense_Mutation_p.N319D|CHRM2_uc003vtn.1_Missense_Mutation_p.N319D|uc003vtp.1_Intron	p.N319D	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1578	+			319			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.955A>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	A	8.854	0.945192	0.18356	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.59459	0.2195	M	0.63843	1.955	0.41601	D	0.988854	B	0.33345	0.409	B	0.41135	0.348	T	0.55952	-0.8059	10	0.12766	T	0.61	-18.4069	15.427	0.75061	1.0:0.0:0.0:0.0	.	319	P08172	ACM2_HUMAN	D	319	ENSP00000399745:N319D;ENSP00000415386:N319D;ENSP00000319984:N319D;ENSP00000380733:N319D;ENSP00000384937:N319D;ENSP00000384401:N319D	ENSP00000319984:N319D	N	+	1	0	CHRM2	136351107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.303000	0.78871	2.055000	0.61198	0.533000	0.62120	AAC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			20	45	0	0	0	0.008871	0	20	45				
SVOPL	136306	broad.mit.edu	37	7	138312951	138312951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:138312951G>T	ENST00000419765.3	-	10	1054	c.1021C>A	c.(1021-1023)Ccc>Acc	p.P341T	SVOPL_ENST00000421622.1_Missense_Mutation_p.P221T|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000288513.5_Missense_Mutation_p.P189T|SVOPL_ENST00000436657.1_Missense_Mutation_p.P189T	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	341						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TAGTCAGAGGGTGCAAACATG	0.562																																							uc011kqh.1		NA																	0					0						c.(1021-1023)CCC>ACC		SVOP-like isoform 1							157.0	126.0	136.0					7																	138312951		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312951G>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1021C>A	7.37:g.138312951G>T	ENSP00000405482:p.Pro341Thr					SVOPL_uc003vue.2_Missense_Mutation_p.P189T	p.P341T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			10	1021	-			341						Missense_Mutation	SNP	ENST00000419765.3	37	c.1021C>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	7.711	0.695102	0.15039	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.72725	0.05;0.12;0.05;-0.68	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.614985	0.17909	N	0.157901	T	0.43366	0.1244	N	0.03154	-0.405	0.39218	D	0.963441	B;P	0.38370	0.425;0.628	B;B	0.31869	0.136;0.137	T	0.50759	-0.8790	10	0.10902	T	0.67	-28.3031	15.4841	0.75551	0.0:0.0:1.0:0.0	.	341;189	Q8N434;Q8N434-2	SVOPL_HUMAN;.	T	189;221;189;341	ENSP00000288513:P189T;ENSP00000412830:P221T;ENSP00000417018:P189T;ENSP00000405482:P341T	ENSP00000288513:P189T	P	-	1	0	SVOPL	137963491	0.999000	0.42202	0.956000	0.39512	0.841000	0.47740	2.865000	0.48412	2.369000	0.80426	0.563000	0.77884	CCC		0.562	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		32	18	1	0	1.21669e-08	0.003271	1.57634e-08	32	18				
OR9A4	130075	broad.mit.edu	37	7	141618956	141618956	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:141618956T>G	ENST00000548136.1	+	1	340	c.281T>G	c.(280-282)tTg>tGg	p.L94W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACAATATATTTGTCTGCCTGT	0.527																																							uc003vwu.1		NA																	0				skin(1)	1						c.(280-282)TTG>TGG		olfactory receptor, family 9, subfamily A,							104.0	105.0	105.0					7																	141618956		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618956T>G		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.281T>G	7.37:g.141618956T>G	ENSP00000448789:p.Leu94Trp						p.L94W	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	281	+	Melanoma(164;0.0171)		94			Extracellular (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.281T>G	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	9.478	1.097490	0.20552	.	.	ENSG00000258083	ENST00000548136	T	0.02032	4.49	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07818	0.0196	M	0.64080	1.96	0.09310	N	1	D	0.67145	0.996	P	0.57776	0.827	T	0.11012	-1.0605	9	0.87932	D	0	-12.5949	10.8406	0.46712	0.0:0.0:0.0:1.0	.	94	Q8NGU2	OR9A4_HUMAN	W	94	ENSP00000448789:L94W	ENSP00000386148:L94W	L	+	2	0	OR9A4	141265425	0.122000	0.22280	0.077000	0.20336	0.029000	0.11900	1.935000	0.40173	1.723000	0.51488	0.533000	0.62120	TTG		0.527	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		10	87	0	0	0	0.001368	0	10	87				
TPK1	27010	broad.mit.edu	37	7	144380019	144380019	+	Silent	SNP	G	G	T	rs370527936		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:144380019G>T	ENST00000360057.3	-	4	270	c.168C>A	c.(166-168)acC>acA	p.T56T	TPK1_ENST00000538212.2_Missense_Mutation_p.P11Q|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	56					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(166-168)ACC>ACA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						202.0	199.0	200.0					7																	144380019		2203	4300	6503	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380019G>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.168C>A	7.37:g.144380019G>T						TPK1_uc003weo.2_Missense_Mutation_p.P11Q|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Silent_p.T56T|TPK1_uc003wes.2_RNA	p.T56T	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			4	271	-			56					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	ENST00000360057.3	37	c.168C>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535538	0.27475	.	.	ENSG00000196511	ENST00000538212	T	0.76839	-1.05	6.02	-12.0	0.00017	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.39078	D	0.960843	B	0.13594	0.008	B	0.12156	0.007	T	0.42699	-0.9436	8	0.87932	D	0	-12.0501	0.591	0.00728	0.3264:0.1282:0.3282:0.2172	.	11	Q6ZQX6	.	Q	11	ENSP00000438813:P11Q	ENSP00000449909:P11Q	P	-	2	0	TPK1	144010952	0.001000	0.12720	0.186000	0.23195	0.976000	0.68499	-3.359000	0.00498	-2.266000	0.00687	-0.136000	0.14681	CCG		0.388	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		37	83	1	0	6.53348e-20	0.003755	1.11494e-19	37	83				
PDIA4	9601	broad.mit.edu	37	7	148701251	148701251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:148701251C>G	ENST00000286091.4	-	10	1805	c.1573G>C	c.(1573-1575)Gga>Cga	p.G525R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	525	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGACGGGTCCCTTGTTGTTC	0.567																																							uc003wff.2		NA																	0				lung(5)|ovary(1)	6						c.(1573-1575)GGA>CGA		protein disulfide isomerase A4 precursor							160.0	147.0	152.0					7																	148701251		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701251C>G	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1573G>C	7.37:g.148701251C>G	ENSP00000286091:p.Gly525Arg						p.G525R	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	1855	-	Melanoma(164;0.15)		525			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1573G>C	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463896	0.84425	.	.	ENSG00000155660	ENST00000286091	T	0.28069	1.63	5.81	5.81	0.92471	Thioredoxin-like fold (4);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.53464	-0.8435	10	0.48119	T	0.1	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	525	P13667	PDIA4_HUMAN	R	525	ENSP00000286091:G525R	ENSP00000286091:G525R	G	-	1	0	PDIA4	148332184	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.574000	0.82434	2.751000	0.94390	0.555000	0.69702	GGA		0.567	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		75	33	0	0	0	0.00361	0	75	33				
SLC4A2	6522	broad.mit.edu	37	7	150767073	150767073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:150767073G>T	ENST00000485713.1	+	9	2227	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	SLC4A2_ENST00000392826.2_Missense_Mutation_p.G387V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.G314V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G382V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G396V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	396					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCTGCCCGGAGTGGCCCAC	0.607																																							uc003wit.3		NA																	0					0						c.(1186-1188)GGA>GTA		solute carrier family 4, anion exchanger, member							62.0	61.0	61.0					7																	150767073		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767073G>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1187G>T	7.37:g.150767073G>T	ENSP00000419412:p.Gly396Val					SLC4A2_uc011kve.1_Missense_Mutation_p.G387V|SLC4A2_uc003wiu.3_Missense_Mutation_p.G382V|SLC4A2_uc003wiv.3_5'Flank	p.G396V	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1443	+			396			Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1187G>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.268167	0.80469	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.112924	0.64402	D	0.000014	D	0.89298	0.6675	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.76575	0.965;0.979;0.988	D	0.90040	0.4141	10	0.87932	D	0	.	18.111	0.89536	0.0:0.0:1.0:0.0	.	387;382;396	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	V	396;396;314;387;382	ENSP00000419412:G396V;ENSP00000405600:G396V;ENSP00000311402:G314V;ENSP00000376571:G387V;ENSP00000419164:G382V	ENSP00000311402:G314V	G	+	2	0	SLC4A2	150398006	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	8.009000	0.88606	2.632000	0.89209	0.550000	0.68814	GGA		0.607	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		22	11	1	0	7.41877e-09	0.001882	9.63772e-09	22	11				
KMT2C	58508	broad.mit.edu	37	7	151874875	151874875	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:151874875C>G	ENST00000262189.6	-	38	7881	c.7663G>C	c.(7663-7665)Ggc>Cgc	p.G2555R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G2555R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2555	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TATGCTTGGCCCAGTATGTTG	0.473																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7663-7665)GGC>CGC		myeloid/lymphoid or mixed-lineage leukemia 3							106.0	102.0	103.0					7																	151874875		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874875C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7663G>C	7.37:g.151874875C>G	ENSP00000262189:p.Gly2555Arg					MLL3_uc003wkz.2_Missense_Mutation_p.G1616R|MLL3_uc003wky.2_Missense_Mutation_p.G64R	p.G2555R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	7882	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2555			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7663G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.504505|3.504505	0.64410|0.64410	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.94650	.|-3.48;-3.46	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|0.000000	0.47455|0.47455	D|D	0.000234|0.000234	D|D	0.97241|0.97241	0.9098|0.9098	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	D|D	0.97415|0.97415	1.0005|1.0005	6|10	.|0.87932	.|D	.|0	.|.	19.94|19.94	0.97155|0.97155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2555;1616;2555	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	A|R	60|2555	.|ENSP00000262189:G2555R;ENSP00000347325:G2555R	.|ENSP00000262189:G2555R	G|G	-|-	2|1	0|0	MLL3|MLL3	151505808|151505808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.480000|7.480000	0.81109|0.81109	2.721000|2.721000	0.93114|0.93114	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	41	0	0	0	0.008871	0	21	41				
HTR5A	3361	broad.mit.edu	37	7	154875913	154875913	+	Missense_Mutation	SNP	G	G	A	rs150067714		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:154875913G>A	ENST00000287907.2	+	2	1366	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	264					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GGTCCGCCACGCCACCGTCAC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18326	0.0		0.0	False		,,,				2504	0.0						uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(790-792)GCC>ACC		5-hydroxytryptamine receptor 5A		G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	77.0	64.0	68.0		790	0.8	0.0	7	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HTR5A	NM_024012.2	58	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	264/358	154875913	4,13002	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875913G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.790G>A	7.37:g.154875913G>A	ENSP00000287907:p.Ala264Thr						p.A264T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	854	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	264			Cytoplasmic (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.790G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	g	11.08	1.532371	0.27387	6.81E-4	1.16E-4	ENSG00000157219	ENST00000287907	T	0.71222	-0.55	4.86	0.759	0.18438	GPCR, rhodopsin-like superfamily (1);	0.762175	0.11927	N	0.516096	T	0.47173	0.1431	N	0.17474	0.49	0.43930	D	0.996585	B	0.13594	0.008	B	0.16289	0.015	T	0.18524	-1.0334	10	0.11485	T	0.65	.	5.632	0.17516	0.232:0.0:0.6325:0.1354	.	264	P47898	5HT5A_HUMAN	T	264	ENSP00000287907:A264T	ENSP00000287907:A264T	A	+	1	0	HTR5A	154506846	1.000000	0.71417	0.015000	0.15790	0.330000	0.28571	4.475000	0.60210	-0.166000	0.10890	0.609000	0.83330	GCC		0.602	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		14	28	0	0	0	0.004007	0	14	28				
RP1L1	94137	broad.mit.edu	37	8	10464791	10464791	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10464791G>T	ENST00000382483.3	-	4	7040	c.6817C>A	c.(6817-6819)Cct>Act	p.P2273T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2353	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGTCCTCAGGGACTGGGCTG	0.587																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6817-6819)CCT>ACT		retinitis pigmentosa 1-like 1							118.0	122.0	120.0					8																	10464791		1968	4151	6119	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464791G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6817C>A	8.37:g.10464791G>T	ENSP00000371923:p.Pro2273Thr						p.P2273T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7046	-			2273					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6817C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581796	0.03854	.	.	ENSG00000183638	ENST00000382483	T	0.04083	3.71	4.52	4.52	0.55395	.	1.018420	0.07916	U	0.975063	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	P	0.37864	0.61	B	0.31290	0.127	T	0.40664	-0.9551	10	0.45353	T	0.12	-0.3081	10.952	0.47334	0.0942:0.0:0.9058:0.0	.	2273	A6NKC6	.	T	2273	ENSP00000371923:P2273T	ENSP00000371923:P2273T	P	-	1	0	RP1L1	10502201	0.003000	0.15002	0.106000	0.21319	0.004000	0.04260	1.206000	0.32321	2.247000	0.74100	0.505000	0.49811	CCT		0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			53	59	1	0	4.96213e-28	0.00361	9.16184e-28	53	59				
RP1L1	94137	broad.mit.edu	37	8	10469162	10469162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10469162C>A	ENST00000382483.3	-	4	2669	c.2446G>T	c.(2446-2448)Ggg>Tgg	p.G816W		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	816					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCACCGCCCCTTGCTCAGGC	0.692																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2446-2448)GGG>TGG		retinitis pigmentosa 1-like 1							24.0	29.0	27.0					8																	10469162		1962	4120	6082	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469162C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2446G>T	8.37:g.10469162C>A	ENSP00000371923:p.Gly816Trp						p.G816W	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2675	-			816					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2446G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345689	0.41498	.	.	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.15	0.16	0.14972	.	1.854790	0.03470	N	0.213563	T	0.10035	0.0246	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.64506	0.926	T	0.19877	-1.0292	10	0.87932	D	0	-1.5773	3.7923	0.08726	0.0:0.4949:0.1836:0.3215	.	816	A6NKC6	.	W	816	ENSP00000371923:G816W	ENSP00000371923:G816W	G	-	1	0	RP1L1	10506572	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.999000	0.29757	-0.172000	0.10779	0.462000	0.41574	GGG		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	16	1	0	2.0095e-06	0.001984	2.38297e-06	7	16				
RP1L1	94137	broad.mit.edu	37	8	10469891	10469891	+	Missense_Mutation	SNP	C	C	A	rs377088304		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10469891C>A	ENST00000382483.3	-	4	1940	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	573					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAAGCGGGGTCGCCTCCCTCG	0.662																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1717-1719)GAC>TAC		retinitis pigmentosa 1-like 1							62.0	73.0	70.0					8																	10469891		2109	4239	6348	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469891C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1717G>T	8.37:g.10469891C>A	ENSP00000371923:p.Asp573Tyr						p.D573Y	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1946	-			573					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1717G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	1.124	-0.654372	0.03480	.	.	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.34	-2.69	0.06022	.	1.788950	0.03370	N	0.198862	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	P	0.34864	0.473	B	0.32677	0.15	T	0.42103	-0.9471	10	0.41790	T	0.15	-1.9029	9.3652	0.38219	0.0:0.5833:0.0:0.4167	.	573	A6NKC6	.	Y	573	ENSP00000371923:D573Y	ENSP00000371923:D573Y	D	-	1	0	RP1L1	10507301	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.343000	0.07791	-0.514000	0.06488	-1.360000	0.01215	GAC		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			29	45	1	0	1.06801e-11	0.009535	1.50105e-11	29	45				
GATA4	2626	broad.mit.edu	37	8	11615981	11615981	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:11615981G>T	ENST00000335135.4	+	7	1884	c.1326G>T	c.(1324-1326)gcG>gcT	p.A442A	GATA4_ENST00000528712.1_Silent_p.A236A|C8orf49_ENST00000525043.2_5'Flank|GATA4_ENST00000532059.1_Silent_p.A443A	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	442			A -> V (in VSD1). {ECO:0000269|PubMed:18672102}.		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TAATCACTGCGTAATCTTCCC	0.602																																							uc003wuc.2		NA																	0				central_nervous_system(1)	1						c.(1324-1326)GCG>GCT		GATA binding protein 4							100.0	83.0	88.0					8																	11615981		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11615981G>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1326G>T	8.37:g.11615981G>T						GATA4_uc003wub.1_Silent_p.A236A|GATA4_uc011kxc.1_Silent_p.A443A|uc003wud.1_5'Flank	p.A442A	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	7	1880	+	all_epithelial(15;0.0839)		442					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.1326G>T	CCDS5983.1																																																																																				0.602	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		9	34	1	0	0.000978159	0.000978	0.00106133	9	34				
DLC1	10395	broad.mit.edu	37	8	12956865	12956865	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:12956865C>A	ENST00000276297.4	-	9	3390	c.2981G>T	c.(2980-2982)aGg>aTg	p.R994M	DLC1_ENST00000512044.2_Missense_Mutation_p.R591M|DLC1_ENST00000520226.1_Missense_Mutation_p.R483M|DLC1_ENST00000358919.2_Missense_Mutation_p.R557M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	994					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTGTTGGACCTGGTTAGGGA	0.562																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2980-2982)AGG>ATG		deleted in liver cancer 1 isoform 1							62.0	67.0	66.0					8																	12956865		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956865C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2981G>T	8.37:g.12956865C>A	ENSP00000276297:p.Arg994Met					DLC1_uc003wwk.1_Missense_Mutation_p.R557M|DLC1_uc003wwl.1_Missense_Mutation_p.R591M|DLC1_uc011kxx.1_Missense_Mutation_p.R483M	p.R994M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	3425	-			994					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2981G>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226779	0.58668	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.08102	3.39;3.15;3.14;3.13	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.854;0.999;0.998	T	0.26503	-1.0101	10	0.72032	D	0.01	.	19.7052	0.96069	0.0:1.0:0.0:0.0	.	994;591;557	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	M	994;557;591;483	ENSP00000276297:R994M;ENSP00000351797:R557M;ENSP00000422595:R591M;ENSP00000428028:R483M	ENSP00000276297:R994M	R	-	2	0	DLC1	13001236	0.998000	0.40836	0.969000	0.41365	0.480000	0.33159	4.979000	0.63806	2.739000	0.93911	0.655000	0.94253	AGG		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		12	19	1	0	4.84862e-15	0.000978	7.46977e-15	12	19				
SLC18A1	6570	broad.mit.edu	37	8	20036811	20036811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:20036811C>A	ENST00000276373.5	-	3	575	c.309G>T	c.(307-309)atG>atT	p.M103I	SLC18A1_ENST00000437980.1_Missense_Mutation_p.M103I|SLC18A1_ENST00000440926.1_Missense_Mutation_p.M103I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M103I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M103I|SLC18A1_ENST00000381608.4_Missense_Mutation_p.M103I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	103					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CAGTGTCATTCATCCATGCTA	0.498																																							uc011kyq.1		NA																	0				ovary(2)	2						c.(307-309)ATG>ATT		solute carrier family 18 (vesicular monoamine),							180.0	121.0	141.0					8																	20036811		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20036811C>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.309G>T	8.37:g.20036811C>A	ENSP00000276373:p.Met103Ile					SLC18A1_uc003wzm.2_Missense_Mutation_p.M103I|SLC18A1_uc011kyr.1_Missense_Mutation_p.M103I|SLC18A1_uc003wzn.2_Missense_Mutation_p.M103I|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.M103I	p.M103I	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	4	780	-			103			Lumenal, vesicle (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.309G>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455917	0.12283	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04015	4.03;4.03;4.03;4.01;4.03;4.01;3.73	5.74	-4.45	0.03546	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.911413	0.09592	N	0.781403	T	0.01592	0.0051	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.48801	-0.9003	10	0.19590	T	0.45	2.7879	6.6172	0.22782	0.0:0.2917:0.2125:0.4957	.	103;103;103	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	I	103	ENSP00000265808:M103I;ENSP00000276373:M103I;ENSP00000387549:M103I;ENSP00000413361:M103I;ENSP00000429664:M103I;ENSP00000371021:M103I;ENSP00000428999:M103I	ENSP00000265808:M103I	M	-	3	0	SLC18A1	20081091	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.208000	0.09371	-0.713000	0.04981	-1.058000	0.02302	ATG		0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			12	31	1	0	0.000978159	0.000978	0.00106133	12	31				
XPO7	23039	broad.mit.edu	37	8	21835336	21835336	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:21835336T>A	ENST00000252512.9	+	8	919	c.819T>A	c.(817-819)ccT>ccA	p.P273P	XPO7_ENST00000434536.1_Silent_p.P282P|XPO7_ENST00000433566.4_Silent_p.P274P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	273				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATTCCATCCCTCCTTCATTTT	0.373																																							uc003xaa.3		NA																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(817-819)CCT>CCA		exportin 7 isoform b							203.0	174.0	183.0					8																	21835336		1848	4090	5938	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21835336T>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.819T>A	8.37:g.21835336T>A						XPO7_uc010lti.2_Silent_p.P282P|XPO7_uc010ltk.2_Silent_p.P274P	p.P273P	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	8	921	+			273	Missing (in Ref. 3; BAA34465).				O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.819T>A	CCDS47818.1																																																																																				0.373	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		6	22	0	0	0	0.001168	0	6	22				
RHOBTB2	23221	broad.mit.edu	37	8	22864676	22864676	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:22864676G>T	ENST00000251822.6	+	5	1455	c.918G>T	c.(916-918)ggG>ggT	p.G306G	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.G313G|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.G328G	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	306	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGAGCTGGGGGGCCCCTCGG	0.622																																							uc003xcq.2		NA																	0				ovary(1)|lung(1)	2						c.(916-918)GGG>GGT		Rho-related BTB domain containing 2 isoform 3							52.0	57.0	55.0					8																	22864676		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864676G>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.918G>T	8.37:g.22864676G>T						RHOBTB2_uc003xcp.2_Silent_p.G328G|RHOBTB2_uc011kzp.1_Silent_p.G313G|uc003xcr.2_RNA	p.G306G	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1455	+		Prostate(55;0.0513)|Breast(100;0.214)	306			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.918G>T	CCDS6034.1																																																																																				0.622	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			13	31	1	0	1.52009e-12	0.003163	2.18978e-12	13	31				
DOCK5	80005	broad.mit.edu	37	8	25226140	25226140	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:25226140A>T	ENST00000276440.7	+	33	3381	c.3337A>T	c.(3337-3339)Act>Tct	p.T1113S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1113					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCTGGAGGTCACTCTGACCCC	0.403																																					Pancreas(145;34 1887 3271 10937 30165)	Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(3337-3339)ACT>TCT		dedicator of cytokinesis 5							71.0	72.0	71.0					8																	25226140		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226140A>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3337A>T	8.37:g.25226140A>T	ENSP00000276440:p.Thr1113Ser					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.T827S|DOCK5_uc003xei.2_Missense_Mutation_p.T683S|DOCK5_uc003xej.2_RNA	p.T1113S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	33	3474	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1113					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3337A>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.481719|4.481719	0.84747|0.84747	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.28069	.|1.63	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42131|0.42131	0.1189|0.1189	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.46952	.|0.887;0.772;0.887	.|P;P;P	.|0.48873	.|0.593;0.474;0.593	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.36615	.|T	.|0.2	.|.	16.1467|16.1467	0.81577|0.81577	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1103;888;1113	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	L|S	884|1113	.|ENSP00000276440:T1113S	.|ENSP00000276440:T1113S	H|T	+|+	2|1	0|0	DOCK5|DOCK5	25282057|25282057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.403	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		9	32	0	0	0	0.004482	0	9	32				
ADRA1A	148	broad.mit.edu	37	8	26627890	26627890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:26627890C>A	ENST00000519229.1	-	2	1183	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C	ADRA1A_ENST00000276393.4_Missense_Mutation_p.G393C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G393C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G393C|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380573.3_Missense_Mutation_p.G393C|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.G393C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	351					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCACAAACGCCATCCGTCTTG	0.562																																							uc003xfh.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1177-1179)GGC>TGC		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						122.0	118.0	119.0					8																	26627890		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627890C>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1177G>T	8.37:g.26627890C>A	ENSP00000430793:p.Gly393Cys					ADRA1A_uc003xfc.1_Missense_Mutation_p.G393C|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.G393C|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.G393C	p.G393C	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1613	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	393			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1177G>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131584	0.77662	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.63580	2.02;0.03;0.01;-0.05;-0.03;-0.03	5.96	5.96	0.96718	.	0.254426	0.34046	N	0.004306	T	0.78020	0.4218	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	0.993;0.997;1.0;0.995	P;P;D;P	0.77004	0.781;0.871;0.989;0.747	T	0.77579	-0.2535	10	0.66056	D	0.02	.	20.0112	0.97449	0.0:1.0:0.0:0.0	.	393;393;393;393	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	C	393	ENSP00000369960:G393C;ENSP00000369956:G393C;ENSP00000430793:G393C;ENSP00000346557:G393C;ENSP00000276393:G393C;ENSP00000369947:G393C	ENSP00000276393:G393C	G	-	1	0	ADRA1A	26683807	0.999000	0.42202	1.000000	0.80357	0.814000	0.46013	4.267000	0.58877	2.826000	0.97356	0.655000	0.94253	GGC		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		13	75	1	0	1.61879e-10	0.001368	2.19183e-10	13	75				
HMBOX1	79618	broad.mit.edu	37	8	28827628	28827628	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:28827628A>T	ENST00000397358.3	+	4	796	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	HMBOX1_ENST00000444075.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000355231.5_Missense_Mutation_p.Q31L|HMBOX1_ENST00000519047.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Q31L|HMBOX1_ENST00000403668.2_Missense_Mutation_p.Q31L	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	31					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GATCTGCTTCAGCGACTTCGG	0.393																																							uc003xhd.3		NA																	0				ovary(1)	1						c.(91-93)CAG>CTG		homeobox containing 1							76.0	75.0	75.0					8																	28827628		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28827628A>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.92A>T	8.37:g.28827628A>T	ENSP00000380516:p.Gln31Leu					HMBOX1_uc010lvd.2_Missense_Mutation_p.Q31L|HMBOX1_uc003xhc.3_Missense_Mutation_p.Q31L|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Q31L|HMBOX1_uc011lay.1_Missense_Mutation_p.Q31L|HMBOX1_uc003xhf.2_Missense_Mutation_p.Q19L|HMBOX1_uc003xhg.2_Missense_Mutation_p.Q19L	p.Q31L	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	3	434	+		Ovarian(32;0.0192)	31					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.92A>T	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178183	0.78564	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519662;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.82	4.65	0.58169	Hepatocyte nuclear factor 1, N-terminal (1);	0.115680	0.64402	D	0.000010	T	0.78805	0.4341	M	0.63843	1.955	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.991;0.997	D;D;D;D;D;D	0.83275	0.996;0.994;0.996;0.996;0.987;0.994	T	0.79834	-0.1636	10	0.66056	D	0.02	-6.4943	13.1486	0.59477	0.8664:0.1336:0.0:0.0	.	31;31;31;31;31;31	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	L	31	ENSP00000287701:Q31L;ENSP00000401769:Q31L;ENSP00000384261:Q31L;ENSP00000429767:Q31L;ENSP00000430059:Q31L;ENSP00000380516:Q31L;ENSP00000430110:Q31L	ENSP00000287701:Q31L	Q	+	2	0	HMBOX1	28883547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.818000	0.91991	0.999000	0.39023	-0.316000	0.08728	CAG		0.393	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		26	31	0	0	0	0.004656	0	26	31				
SARAF	51669	broad.mit.edu	37	8	29924381	29924381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:29924381C>A	ENST00000256255.6	-	4	1011	c.754G>T	c.(754-756)Gga>Tga	p.G252*	TMEM66_ENST00000536273.1_Nonsense_Mutation_p.G80*|TMEM66_ENST00000545648.1_Nonsense_Mutation_p.G80*	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		252					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CCTTGTTGTCCTGTAAAAGCA	0.398																																							uc003xhs.2		NA																	0					0						c.(754-756)GGA>TGA		transmembrane protein 66 precursor							146.0	143.0	144.0					8																	29924381		2203	4300	6503	SO:0001587	stop_gained	51669					integral to membrane		g.chr8:29924381C>A																												ENST00000256255.6:c.754G>T	8.37:g.29924381C>A	ENSP00000256255:p.Gly252*					TMEM66_uc003xht.2_Nonsense_Mutation_p.G252*|TMEM66_uc003xhu.2_Nonsense_Mutation_p.G216*|TMEM66_uc003xhv.2_Nonsense_Mutation_p.G80*	p.G252*	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	4	938	-			252					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Nonsense_Mutation	SNP	ENST00000256255.6	37	c.754G>T	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	41|41|41	8.910258|8.910258|8.910258	0.99000|0.99000|0.99000	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127|ENST00000521265|ENST00000518296	.|.|.	.|.|.	.|.|.	5.19|5.19|5.19	5.19|5.19|5.19	0.71726|0.71726|0.71726	.|.|.	0.561885|.|.	0.20031|.|.	N|.|.	0.100705|.|.	.|T|T	.|0.53318|0.53318	.|0.1789|0.1789	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63260|0.63260	.|-0.6677|-0.6677	.|3|3	0.46703|.|.	T|.|.	0.11|.|.	-20.1272|-20.1272|-20.1272	9.8225|9.8225|9.8225	0.40891|0.40891|0.40891	0.0:0.9064:0.0:0.0936|0.0:0.9064:0.0:0.0936|0.0:0.9064:0.0:0.0936	.|.|.	.|.|.	.|.|.	.|.|.	X|H|M	252;80;216;80;150|251|121	.|.|.	ENSP00000256255:G252X|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	TMEM66|TMEM66|TMEM66	30043923|30043923|30043923	0.233000|0.233000|0.233000	0.23772|0.23772|0.23772	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.953000|0.953000|0.953000	0.61014|0.61014|0.61014	1.638000|1.638000|1.638000	0.37165|0.37165|0.37165	2.442000|2.442000|2.442000	0.82660|0.82660|0.82660	0.580000|0.580000|0.580000	0.79431|0.79431|0.79431	GGA|CAG|AGG		0.398	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			32	55	1	0	1.22384e-17	0.002836	1.99635e-17	32	55				
UNC5D	137970	broad.mit.edu	37	8	35453098	35453098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:35453098C>A	ENST00000404895.2	+	4	821	c.493C>A	c.(493-495)Cca>Aca	p.P165T	UNC5D_ENST00000453357.2_Missense_Mutation_p.P160T|UNC5D_ENST00000420357.1_Missense_Mutation_p.P165T|UNC5D_ENST00000287272.2_Missense_Mutation_p.P165T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P165T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	165	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGAACAAGACCCACAAGGAAG	0.463																																							uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(493-495)CCA>ACA		unc-5 homolog D precursor							152.0	144.0	147.0					8																	35453098		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35453098C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.493C>A	8.37:g.35453098C>A	ENSP00000385143:p.Pro165Thr					UNC5D_uc003xjs.1_Missense_Mutation_p.P160T	p.P165T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	4	821	+			165			Extracellular (Potential).|Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.493C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842926	0.91197	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.048032	0.85682	D	0.000000	T	0.77308	0.4111	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81309	-0.0991	10	0.87932	D	0	-13.6473	19.9285	0.97112	0.0:1.0:0.0:0.0	.	160;165	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	165;165;165;165;160	ENSP00000385143:P165T;ENSP00000392739:P165T;ENSP00000287272:P165T;ENSP00000412652:P165T;ENSP00000394303:P160T	ENSP00000287272:P165T	P	+	1	0	UNC5D	35572640	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.166000	0.77553	2.818000	0.97014	0.591000	0.81541	CCA		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			22	53	1	0	4.4004e-07	0.00333	5.35475e-07	22	53				
UNC5D	137970	broad.mit.edu	37	8	35583812	35583812	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:35583812A>C	ENST00000404895.2	+	10	1774	c.1446A>C	c.(1444-1446)aaA>aaC	p.K482N	UNC5D_ENST00000453357.2_Missense_Mutation_p.K477N|UNC5D_ENST00000420357.1_Missense_Mutation_p.K415N|UNC5D_ENST00000287272.2_Missense_Mutation_p.K413N|UNC5D_ENST00000416672.1_Missense_Mutation_p.K487N|UNC5D_ENST00000449677.1_Missense_Mutation_p.K58N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	482					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGGACATCAAAGTGAAAGTCC	0.522																																							uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1444-1446)AAA>AAC		unc-5 homolog D precursor							67.0	66.0	67.0					8																	35583812		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583812A>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1446A>C	8.37:g.35583812A>C	ENSP00000385143:p.Lys482Asn					UNC5D_uc003xjs.1_Missense_Mutation_p.K477N|UNC5D_uc003xju.1_Missense_Mutation_p.K58N|UNC5D_uc003xjt.1_Missense_Mutation_p.K240N	p.K482N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1774	+			482			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1446A>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105078	0.77096	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57907	0.4;0.8;0.82;0.4;0.37;1.93	6.04	2.45	0.29901	.	0.219289	0.53938	D	0.000046	T	0.60881	0.2303	M	0.64567	1.98	0.45883	D	0.998733	D;D;D;D	0.69078	0.997;0.976;0.986;0.976	P;P;P;P	0.58520	0.84;0.601;0.775;0.601	T	0.61407	-0.7069	10	0.72032	D	0.01	-25.1547	8.9471	0.35764	0.6143:0.0:0.3857:0.0	.	58;487;477;482	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	N	482;415;413;487;477;58	ENSP00000385143:K482N;ENSP00000392739:K415N;ENSP00000287272:K413N;ENSP00000412652:K487N;ENSP00000394303:K477N;ENSP00000397211:K58N	ENSP00000287272:K413N	K	+	3	2	UNC5D	35703354	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.600000	0.24104	0.544000	0.28883	0.460000	0.39030	AAA		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	15	0	0	0	0.000602	0	5	15				
KCNU1	157855	broad.mit.edu	37	8	36691150	36691150	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:36691150G>T	ENST00000399881.3	+	11	1222	c.1185G>T	c.(1183-1185)atG>atT	p.M395I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	395	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATCTGCAATGAAGTGGGAGG	0.393																																							uc010lvw.2		NA																	0				ovary(1)	1						c.(1183-1185)ATG>ATT		potassium channel, subfamily U, member 1							151.0	147.0	148.0					8																	36691150		1892	4118	6010	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36691150G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1185G>T	8.37:g.36691150G>T	ENSP00000382770:p.Met395Ile					KCNU1_uc003xjw.2_RNA	p.M395I	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	11	1272	+			395			RCK N-terminal.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.1185G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	7.221	0.597346	0.13875	.	.	ENSG00000215262	ENST00000399881	T	0.69306	-0.39	5.32	-1.35	0.09114	NAD(P)-binding domain (1);	0.273076	0.18426	U	0.141595	T	0.44456	0.1294	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16512	-1.0400	10	0.87932	D	0	-4.7187	0.7572	0.01000	0.2054:0.2125:0.3238:0.2583	.	395	A8MYU2	KCNU1_HUMAN	I	395	ENSP00000382770:M395I	ENSP00000382770:M395I	M	+	3	0	KCNU1	36810308	0.915000	0.31059	0.057000	0.19452	0.022000	0.10575	-0.044000	0.12023	-0.523000	0.06409	-0.224000	0.12420	ATG		0.393	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	22	1	0	0.00909568	0.009096	0.00949057	4	22				
GPR124	25960	broad.mit.edu	37	8	37693152	37693152	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:37693152C>A	ENST00000412232.2	+	13	1927	c.1914C>A	c.(1912-1914)ccC>ccA	p.P638P	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	638					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCGGTGCCCCCAGACTGCA	0.667																																							uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1912-1914)CCC>CCA		G protein-coupled receptor 124 precursor							82.0	93.0	89.0					8																	37693152		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693152C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1914C>A	8.37:g.37693152C>A						GPR124_uc010lvy.2_Intron	p.P638P	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	2277	+			638			Extracellular (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1914C>A	CCDS6097.2																																																																																				0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			50	70	1	0	2.01807e-28	0.00361	3.73084e-28	50	70				
GPR124	25960	broad.mit.edu	37	8	37698729	37698729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:37698729C>A	ENST00000412232.2	+	19	2886	c.2873C>A	c.(2872-2874)cCc>cAc	p.P958H	GPR124_ENST00000315215.7_Missense_Mutation_p.P741H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	958					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCACAGAACCCCAAGGCGGGC	0.637																																							uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2872-2874)CCC>CAC		G protein-coupled receptor 124 precursor							47.0	54.0	52.0					8																	37698729		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698729C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2873C>A	8.37:g.37698729C>A	ENSP00000406367:p.Pro958His					GPR124_uc010lvy.2_Missense_Mutation_p.P741H	p.P958H	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	3236	+			958			Cytoplasmic (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2873C>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406855	0.25378	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.62639	0.01;0.21	4.86	4.86	0.63082	.	0.676716	0.15420	N	0.263303	T	0.44117	0.1278	N	0.08118	0	0.09310	N	1	P;P	0.48503	0.911;0.794	P;P	0.46479	0.518;0.482	T	0.19386	-1.0307	10	0.33940	T	0.23	-1.4289	7.3372	0.26617	0.2858:0.6332:0.0:0.081	.	741;958	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	951;741;958	ENSP00000323508:P741H;ENSP00000406367:P958H	ENSP00000323508:P741H	P	+	2	0	GPR124	37817887	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	3.130000	0.50508	2.242000	0.73789	0.655000	0.94253	CCC		0.637	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			12	27	1	0	1.08611e-07	0.000978	1.35482e-07	12	27				
FNTA	2339	broad.mit.edu	37	8	42940002	42940002	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:42940002A>T	ENST00000302279.3	+	8	1189	c.995A>T	c.(994-996)gAc>gTc	p.D332V	FNTA_ENST00000342116.4_Missense_Mutation_p.D265V|FNTA_ENST00000529687.1_Missense_Mutation_p.D181V	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	332					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AATAAGGAAGACATTCTTAAT	0.393																																							uc003xps.2		NA																	0				ovary(1)	1						c.(994-996)GAC>GTC		farnesyltransferase, CAAX box, alpha isoform a							118.0	117.0	117.0					8																	42940002		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940002A>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.995A>T	8.37:g.42940002A>T	ENSP00000303423:p.Asp332Val					FNTA_uc003xpt.2_Missense_Mutation_p.D241V|FNTA_uc003xpu.2_Missense_Mutation_p.D265V|FNTA_uc003xpv.2_RNA	p.D332V	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		8	1043	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	332					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.995A>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647952	0.47258	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.77	5.77	0.91146	Protein prenyltransferase (1);	0.093892	0.64402	D	0.000001	T	0.48314	0.1493	L	0.34521	1.04	0.80722	D	1	B;B;B	0.25809	0.135;0.005;0.016	B;B;B	0.25405	0.06;0.007;0.017	T	0.45848	-0.9233	9	0.49607	T	0.09	-24.0385	14.039	0.64663	1.0:0.0:0.0:0.0	.	265;241;332	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	V	332;265	.	ENSP00000303423:D332V	D	+	2	0	FNTA	43059159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	2.200000	0.70718	0.533000	0.62120	GAC		0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		49	55	0	0	0	0.00361	0	49	55				
PRKDC	5591	broad.mit.edu	37	8	48772236	48772236	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:48772236C>T	ENST00000314191.2	-	47	6196	c.6140G>A	c.(6139-6141)gGa>gAa	p.G2047E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2047E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2048					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCTCTGAACTCCGGTTGAGAA	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(6142-6144)GGA>GAA	NHEJ	protein kinase, DNA-activated, catalytic							114.0	110.0	111.0					8																	48772236		1878	4122	6000	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772236C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6140G>A	8.37:g.48772236C>T	ENSP00000313420:p.Gly2047Glu					PRKDC_uc003xqj.2_Missense_Mutation_p.G2048E|PRKDC_uc011ldh.1_Intron	p.G2048E	NM_006904	NP_008835	P78527	PRKDC_HUMAN			47	6200	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2048					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6143G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.267777	0.95399	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.37058	1.22;1.22	5.9	5.9	0.94986	NUC194 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.71581	2.175	0.80722	D	1	P;D	0.56746	0.871;0.977	P;P	0.60541	0.742;0.876	T	0.60209	-0.7308	10	0.87932	D	0	.	19.2546	0.93941	0.0:1.0:0.0:0.0	.	2047;2048	E7EUY0;P78527	.;PRKDC_HUMAN	E	2047	ENSP00000313420:G2047E;ENSP00000345182:G2047E	ENSP00000313420:G2047E	G	-	2	0	PRKDC	48934789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.786000	0.95864	0.561000	0.74099	GGA		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		42	96	0	0	0	0.009718	0	42	96				
SNTG1	54212	broad.mit.edu	37	8	51569499	51569499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:51569499G>T	ENST00000522124.1	+	14	1541	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SNTG1_ENST00000276467.5_Nonsense_Mutation_p.E294*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.E294*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.E294*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	294	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGAAGCCCGGGAGCAAGACCC	0.443																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(880-882)GAG>TAG		syntrophin, gamma 1							97.0	93.0	94.0					8																	51569499		2203	4300	6503	SO:0001587	stop_gained	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51569499G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.880G>T	8.37:g.51569499G>T	ENSP00000429842:p.Glu294*					SNTG1_uc003xqs.1_Nonsense_Mutation_p.E294*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.E294*|SNTG1_uc011ldl.1_RNA	p.E294*	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			15	1251	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	294			PH.		Q2M3Q0|Q9NY98	Nonsense_Mutation	SNP	ENST00000522124.1	37	c.880G>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165262	0.94768	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.8157	0.63290	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000276467:E294X	E	+	1	0	SNTG1	51732052	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	7.984000	0.88150	2.312000	0.78011	0.591000	0.81541	GAG		0.443	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			37	168	1	0	1.47197e-15	0.007835	2.29468e-15	37	168				
PCMTD1	115294	broad.mit.edu	37	8	52733193	52733193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:52733193C>A	ENST00000360540.5	-	7	1198	c.792G>T	c.(790-792)caG>caT	p.Q264H	PCMTD1_ENST00000544451.1_Missense_Mutation_p.Q188H|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Q264H|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	264						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCCCCTTGGCCTGCATCTCAT	0.408																																							uc003xqx.3		NA																	0					0						c.(790-792)CAG>CAT		protein-L-isoaspartate (D-aspartate)							99.0	104.0	102.0					8																	52733193		2203	4297	6500	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733193C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.792G>T	8.37:g.52733193C>A	ENSP00000353739:p.Gln264His					PCMTD1_uc011ldm.1_Missense_Mutation_p.Q134H|PCMTD1_uc003xqw.3_Missense_Mutation_p.Q264H|PCMTD1_uc011ldn.1_Missense_Mutation_p.Q76H|PCMTD1_uc010lya.2_Missense_Mutation_p.Q188H	p.Q264H	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1133	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	264					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.792G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633248	0.29068	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.41400	1.0;1.0;1.0	5.77	1.38	0.22167	.	0.179439	0.49916	D	0.000130	T	0.19208	0.0461	N	0.08118	0	0.41023	D	0.985093	B;B;B	0.23806	0.001;0.091;0.0	B;B;B	0.17433	0.002;0.018;0.003	T	0.04140	-1.0974	10	0.41790	T	0.15	-27.067	6.8066	0.23780	0.0:0.3718:0.0:0.6282	.	134;188;264	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	H	264;188;264	ENSP00000353739:Q264H;ENSP00000444026:Q188H;ENSP00000428099:Q264H	ENSP00000353739:Q264H	Q	-	3	2	PCMTD1	52895746	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.299000	0.19138	0.346000	0.23899	0.655000	0.94253	CAG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		13	134	1	0	2.61681e-11	0.00245	3.63531e-11	13	134				
PCMTD1	115294	broad.mit.edu	37	8	52733210	52733210	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:52733210T>G	ENST00000360540.5	-	7	1181	c.775A>C	c.(775-777)Ata>Cta	p.I259L	PCMTD1_ENST00000544451.1_Missense_Mutation_p.I183L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.I259L|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	259						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCATCATTTATGAAATTTCTA	0.403																																							uc003xqx.3		NA																	0					0						c.(775-777)ATA>CTA		protein-L-isoaspartate (D-aspartate)							81.0	84.0	83.0					8																	52733210		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733210T>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.775A>C	8.37:g.52733210T>G	ENSP00000353739:p.Ile259Leu					PCMTD1_uc011ldm.1_Missense_Mutation_p.I129L|PCMTD1_uc003xqw.3_Missense_Mutation_p.I259L|PCMTD1_uc011ldn.1_Missense_Mutation_p.I71L|PCMTD1_uc010lya.2_Missense_Mutation_p.I183L	p.I259L	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1116	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	259					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.775A>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902321	0.52227	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44881	0.91;0.91;0.91	5.77	5.77	0.91146	.	0.154593	0.64402	D	0.000017	T	0.47469	0.1447	L	0.44542	1.39	0.46061	D	0.998846	B;P;B	0.51147	0.252;0.942;0.004	B;P;B	0.50659	0.035;0.647;0.005	T	0.37957	-0.9683	10	0.40728	T	0.16	-40.7211	16.0858	0.81049	0.0:0.0:0.0:1.0	.	129;183;259	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	L	259;183;259	ENSP00000353739:I259L;ENSP00000444026:I183L;ENSP00000428099:I259L	ENSP00000353739:I259L	I	-	1	0	PCMTD1	52895763	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.874000	0.48483	2.198000	0.70561	0.533000	0.62120	ATA		0.403	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		9	112	0	0	0	0.001368	0	9	112				
RP1	6101	broad.mit.edu	37	8	55539392	55539392	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:55539392G>C	ENST00000220676.1	+	4	3098	c.2950G>C	c.(2950-2952)Gat>Cat	p.D984H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	984			D -> G (in RP1). {ECO:0000269|PubMed:15933747}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGACAGGAGATAATCTATG	0.348																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(2950-2952)GAT>CAT		retinitis pigmentosa RP1 protein							126.0	135.0	132.0					8																	55539392		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539392G>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2950G>C	8.37:g.55539392G>C	ENSP00000220676:p.Asp984His					RP1_uc011ldy.1_Intron	p.D984H	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3098	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	984		D -> G (in RP1).				Missense_Mutation	SNP	ENST00000220676.1	37	c.2950G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182094	0.06340	.	.	ENSG00000104237	ENST00000220676	T	0.57273	0.41	5.47	0.131	0.14755	.	0.658638	0.14644	N	0.306988	T	0.26882	0.0658	N	0.16478	0.41	0.09310	N	1	B	0.30406	0.278	B	0.24155	0.051	T	0.09885	-1.0654	10	0.41790	T	0.15	.	2.2788	0.04109	0.4449:0.1119:0.3176:0.1256	.	984	P56715	RP1_HUMAN	H	984	ENSP00000220676:D984H	ENSP00000220676:D984H	D	+	1	0	RP1	55701945	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	-0.510000	0.06328	0.378000	0.24764	0.655000	0.94253	GAT		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		7	226	0	0	0	0.001984	0	7	226				
TMEM68	137695	broad.mit.edu	37	8	56675394	56675394	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675394T>G	ENST00000434581.2	-	3	324	c.125A>C	c.(124-126)aAc>aCc	p.N42T	TMEM68_ENST00000521229.1_Missense_Mutation_p.N42T|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.N42T|TMEM68_ENST00000522576.1_Missense_Mutation_p.N42T|TMEM68_ENST00000523073.1_Intron			Q96MH6	TMM68_HUMAN	transmembrane protein 68	42						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CAAGAGATAGTTTGCAAAATT	0.348																																							uc003xsg.1		NA																	0				skin(1)	1						c.(124-126)AAC>ACC		transmembrane protein 68							75.0	73.0	74.0					8																	56675394		2203	4300	6503	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56675394T>G	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.125A>C	8.37:g.56675394T>G	ENSP00000395204:p.Asn42Thr					TMEM68_uc003xsh.1_Missense_Mutation_p.N42T|TMEM68_uc003xsi.1_Missense_Mutation_p.N42T	p.N42T	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		1	194	-			42					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.125A>C		.	.	.	.	.	.	.	.	.	.	T	13.32	2.203264	0.38905	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000522090;ENST00000522030;ENST00000523423;ENST00000520414;ENST00000521229;ENST00000522576	D;D;D	0.94046	-3.34;-3.34;-3.34	5.23	4.07	0.47477	.	0.204018	0.50627	D	0.000115	D	0.87877	0.6288	L	0.56769	1.78	0.28431	N	0.917244	B;B;B	0.30973	0.279;0.302;0.06	B;B;B	0.29663	0.085;0.105;0.031	T	0.75196	-0.3403	10	0.14656	T	0.56	-12.2903	2.9819	0.05956	0.1888:0.0749:0.1234:0.6129	.	42;42;42	Q96MH6-3;Q96MH6-2;Q96MH6	.;.;TMM68_HUMAN	T	42	ENSP00000395204:N42T;ENSP00000335416:N42T;ENSP00000430542:N42T	ENSP00000335416:N42T	N	-	2	0	TMEM68	56837948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.273000	0.33121	0.936000	0.37367	0.459000	0.35465	AAC		0.348	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		62	189	0	0	0	0.00361	0	62	189				
TMEM68	137695	broad.mit.edu	37	8	56675424	56675424	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675424T>G	ENST00000434581.2	-	3	294	c.95A>C	c.(94-96)gAg>gCg	p.E32A	TMEM68_ENST00000521229.1_Missense_Mutation_p.E32A|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.E32A|TMEM68_ENST00000522576.1_Missense_Mutation_p.E32A|TMEM68_ENST00000523073.1_Intron			Q96MH6	TMM68_HUMAN	transmembrane protein 68	32						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CTCCAACTGCTCCACACCAAA	0.358																																							uc003xsg.1		NA																	0				skin(1)	1						c.(94-96)GAG>GCG		transmembrane protein 68							82.0	78.0	79.0					8																	56675424		2203	4300	6503	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56675424T>G	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.95A>C	8.37:g.56675424T>G	ENSP00000395204:p.Glu32Ala					TMEM68_uc003xsh.1_Missense_Mutation_p.E32A|TMEM68_uc003xsi.1_Missense_Mutation_p.E32A	p.E32A	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		1	164	-			32					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.95A>C		.	.	.	.	.	.	.	.	.	.	T	14.57	2.574876	0.45902	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000522090;ENST00000522030;ENST00000523423;ENST00000520414;ENST00000521229;ENST00000522576	.	.	.	5.23	5.23	0.72850	.	0.298857	0.36409	N	0.002614	T	0.44371	0.1290	L	0.48362	1.52	0.38540	D	0.949188	P;P;B	0.42692	0.787;0.465;0.025	B;B;B	0.36666	0.23;0.124;0.024	T	0.46665	-0.9175	9	0.23891	T	0.37	-10.4092	15.4109	0.74917	0.0:0.0:0.0:1.0	.	32;32;32	Q96MH6-3;Q96MH6-2;Q96MH6	.;.;TMM68_HUMAN	A	32	.	ENSP00000335416:E32A	E	-	2	0	TMEM68	56837978	0.996000	0.38824	0.920000	0.36463	0.943000	0.58893	2.649000	0.46656	2.092000	0.63282	0.459000	0.35465	GAG		0.358	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		54	220	0	0	0	0.00361	0	54	220				
TMEM68	137695	broad.mit.edu	37	8	56675442	56675442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675442T>C	ENST00000434581.2	-	3	276	c.77A>G	c.(76-78)gAa>gGa	p.E26G	TMEM68_ENST00000521229.1_Missense_Mutation_p.E26G|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.E26G|TMEM68_ENST00000522576.1_Missense_Mutation_p.E26G|TMEM68_ENST00000523073.1_Intron			Q96MH6	TMM68_HUMAN	transmembrane protein 68	26						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			AAACCATTCTTCGAGTATGTG	0.358																																							uc003xsg.1		NA																	0				skin(1)	1						c.(76-78)GAA>GGA		transmembrane protein 68							79.0	75.0	77.0					8																	56675442		2203	4300	6503	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56675442T>C	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.77A>G	8.37:g.56675442T>C	ENSP00000395204:p.Glu26Gly					TMEM68_uc003xsh.1_Missense_Mutation_p.E26G|TMEM68_uc003xsi.1_Missense_Mutation_p.E26G	p.E26G	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		1	146	-			26					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.77A>G		.	.	.	.	.	.	.	.	.	.	T	14.07	2.426096	0.43020	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000522090;ENST00000522030;ENST00000523423;ENST00000520414;ENST00000521229;ENST00000522576	.	.	.	5.23	5.23	0.72850	.	0.116625	0.56097	D	0.000029	T	0.37265	0.0997	L	0.48362	1.52	0.31462	N	0.66946	B;B;B	0.25390	0.01;0.125;0.006	B;B;B	0.21917	0.021;0.037;0.005	T	0.42447	-0.9451	9	0.37606	T	0.19	-26.6138	6.6768	0.23098	0.1363:0.0745:0.0:0.7892	.	26;26;26	Q96MH6-3;Q96MH6-2;Q96MH6	.;.;TMM68_HUMAN	G	26	.	ENSP00000335416:E26G	E	-	2	0	TMEM68	56837996	0.998000	0.40836	0.955000	0.39395	0.706000	0.40770	2.309000	0.43699	2.092000	0.63282	0.459000	0.35465	GAA		0.358	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		68	216	0	0	0	0.00361	0	68	216				
CSPP1	79848	broad.mit.edu	37	8	68049768	68049768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:68049768G>T	ENST00000262210.5	+	15	1921	c.1890G>T	c.(1888-1890)atG>atT	p.M630I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M336I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	665					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCTGAAATGAGAACATATA	0.353																																							uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(1993-1995)ATG>ATT		centrosome spindle pole associated protein 1							91.0	93.0	92.0					8																	68049768		1853	4088	5941	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68049768G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1890G>T	8.37:g.68049768G>T	ENSP00000262210:p.Met630Ile					CSPP1_uc003xxg.1_Missense_Mutation_p.M657I|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.M630I|CSPP1_uc003xxk.2_Missense_Mutation_p.M336I	p.M665I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		17	2026	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	665			Potential.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1995G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656400	0.88056	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.61980	0.06;0.06;0.06	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	N	0.24115	0.695	0.52099	D	0.999942	D;D;D;D	0.67145	0.982;0.996;0.996;0.996	D;D;D;D	0.75484	0.961;0.974;0.986;0.986	T	0.66308	-0.5956	10	0.31617	T	0.26	-15.0666	19.0512	0.93046	0.0:0.0:1.0:0.0	.	336;630;665;665	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	630;665;336;336	ENSP00000262210:M630I;ENSP00000415782:M336I;ENSP00000430092:M336I	ENSP00000262210:M630I	M	+	3	0	CSPP1	68212322	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.217000	0.89766	2.668000	0.90789	0.460000	0.39030	ATG		0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		11	11	1	0	0.000151284	0.001855	0.000168068	11	11				
NCOA2	10499	broad.mit.edu	37	8	71039095	71039095	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:71039095C>T	ENST00000452400.2	-	19	4050	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGGGGAATCCGAGGGTTGCT	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3868-3870)CGG>CAG		nuclear receptor coactivator 2							139.0	133.0	135.0					8																	71039095		1974	4153	6127	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71039095C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3869G>A	8.37:g.71039095C>T	ENSP00000399968:p.Arg1290Gln					NCOA2_uc011lfb.1_Missense_Mutation_p.R378Q	p.R1290Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		19	4031	-	Breast(64;0.201)		1290					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3869G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.749237|4.749237	0.89753|0.89753	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.25749	.|1.78;1.78	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Domain of unknown function DUF1518 (1);	.|0.049981	.|0.85682	.|D	.|0.000000	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.20706|0.20706	-1.0267|-1.0267	5|10	.|0.27785	.|T	.|0.31	.|.	20.4388|20.4388	0.99107|0.99107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|378;1290	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	R|Q	391|1290;378	.|ENSP00000399968:R1290Q;ENSP00000267974:R378Q	.|ENSP00000267974:R378Q	G|R	-|-	1|2	0|0	NCOA2|NCOA2	71201649|71201649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	7.247000|7.247000	0.78257|0.78257	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			13	19	0	0	0	0.001855	0	13	19				
TRPA1	8989	broad.mit.edu	37	8	72936059	72936059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:72936059G>T	ENST00000262209.4	-	26	3346	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1047					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CGGTATTTCTGCTTTAATATT	0.259																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(3139-3141)CAG>AAG		ankyrin-like protein 1	Menthol(DB00825)						65.0	73.0	71.0					8																	72936059		2198	4295	6493	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72936059G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3139C>A	8.37:g.72936059G>T	ENSP00000262209:p.Gln1047Lys					uc011lff.1_Intron|uc003xyy.2_Intron	p.Q1047K	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3314	-			1047			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3139C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899776	0.72754	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.42513	0.99;0.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.83603	2.65	0.53005	D	0.999963	D	0.64830	0.994	P	0.55508	0.777	T	0.68104	-0.5497	10	0.72032	D	0.01	-17.4713	17.8836	0.88848	0.0:0.0:1.0:0.0	.	1047	O75762	TRPA1_HUMAN	K	899;1047	ENSP00000428151:Q899K;ENSP00000262209:Q1047K	ENSP00000262209:Q1047K	Q	-	1	0	TRPA1	73098613	1.000000	0.71417	0.958000	0.39756	0.761000	0.43186	6.117000	0.71577	2.767000	0.95098	0.655000	0.94253	CAG		0.259	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		17	53	1	0	1.02788e-11	0.00499	1.44747e-11	17	53				
KCNB2	9312	broad.mit.edu	37	8	73849198	73849198	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:73849198T>A	ENST00000523207.1	+	3	2196	c.1608T>A	c.(1606-1608)agT>agA	p.S536R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	536					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGCATCTGAGTGCCCAGAAAC	0.498																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1606-1608)AGT>AGA		potassium voltage-gated channel, Shab-related							117.0	111.0	113.0					8																	73849198		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849198T>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1608T>A	8.37:g.73849198T>A	ENSP00000430846:p.Ser536Arg						p.S536R	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2196	+	Breast(64;0.137)		536			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1608T>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054618	0.55218	.	.	ENSG00000182674	ENST00000523207	T	0.26660	1.72	5.47	-2.48	0.06423	.	1.873730	0.02741	N	0.116267	T	0.43277	0.1240	L	0.48642	1.525	0.42305	D	0.992199	D	0.63880	0.993	D	0.64687	0.928	T	0.51834	-0.8655	10	0.87932	D	0	.	11.962	0.53013	0.0:0.3511:0.0:0.6489	.	536	Q92953	KCNB2_HUMAN	R	536	ENSP00000430846:S536R	ENSP00000430846:S536R	S	+	3	2	KCNB2	74011752	0.003000	0.15002	0.992000	0.48379	0.999000	0.98932	-1.329000	0.02677	-0.340000	0.08388	0.533000	0.62120	AGT		0.498	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		25	38	0	0	0	0.003954	0	25	38				
KCNB2	9312	broad.mit.edu	37	8	73849614	73849614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:73849614C>A	ENST00000523207.1	+	3	2612	c.2024C>A	c.(2023-2025)aCt>aAt	p.T675N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	675					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GTTGACATAACTGTGAACCTC	0.547																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2023-2025)ACT>AAT		potassium voltage-gated channel, Shab-related							57.0	57.0	57.0					8																	73849614		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849614C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2024C>A	8.37:g.73849614C>A	ENSP00000430846:p.Thr675Asn						p.T675N	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2612	+	Breast(64;0.137)		675			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2024C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028488	0.08054	.	.	ENSG00000182674	ENST00000523207	T	0.23552	1.9	4.8	3.9	0.45041	.	1.878890	0.03728	N	0.252973	T	0.22360	0.0539	N	0.22421	0.69	0.18873	N	0.999987	P	0.37176	0.586	B	0.37015	0.239	T	0.18023	-1.0350	10	0.21540	T	0.41	.	13.5557	0.61757	0.0:0.9228:0.0:0.0772	.	675	Q92953	KCNB2_HUMAN	N	675	ENSP00000430846:T675N	ENSP00000430846:T675N	T	+	2	0	KCNB2	74012168	0.587000	0.26791	0.750000	0.31169	0.531000	0.34715	1.204000	0.32296	2.486000	0.83907	0.591000	0.81541	ACT		0.547	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		17	41	1	0	2.35188e-11	0.006122	3.27673e-11	17	41				
ZFHX4	79776	broad.mit.edu	37	8	77617213	77617213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77617213C>A	ENST00000521891.2	+	2	1338	c.890C>A	c.(889-891)gCt>gAt	p.A297D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A297D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A297D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A297D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACCCATGCTGTGCATGAT	0.423										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(889-891)GCT>GAT		zinc finger homeodomain 4							226.0	211.0	216.0					8																	77617213		1954	4175	6129	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617213C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.890C>A	8.37:g.77617213C>A	ENSP00000430497:p.Ala297Asp	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A297D|ZFHX4_uc003yau.1_Missense_Mutation_p.A297D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A297D	p.A297D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1277	+			297					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.890C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246656	0.39697	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.77620	-1.11;-1.04;-1.08;-1.1	5.53	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.44097	U	0.000482	D	0.88343	0.6411	M	0.80982	2.52	0.80722	D	1	B;B;B;D	0.89917	0.012;0.037;0.037;1.0	B;B;B;D	0.91635	0.007;0.024;0.016;0.999	D	0.90285	0.4318	10	0.87932	D	0	.	15.9839	0.80133	0.1356:0.8644:0.0:0.0	.	297;297;297;297	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	297	ENSP00000430497:A297D;ENSP00000399605:A297D;ENSP00000050961:A297D;ENSP00000430848:A297D	ENSP00000050961:A297D	A	+	2	0	ZFHX4	77779768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	1.559000	0.49555	0.655000	0.94253	GCT		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	53	1	0	1.55795e-14	0.001882	2.3748e-14	20	53				
ZFHX4	79776	broad.mit.edu	37	8	77768454	77768454	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77768454C>A	ENST00000521891.2	+	10	9745	c.9297C>A	c.(9295-9297)ccC>ccA	p.P3099P	ZFHX4_ENST00000050961.6_Silent_p.P3054P|ZFHX4_ENST00000455469.2_Silent_p.P3054P|ZFHX4_ENST00000518282.1_Silent_p.P3073P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3054	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCTACCCCGGACTCCCCG	0.542										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9160-9162)CCC>CCA		zinc finger homeodomain 4							53.0	56.0	55.0					8																	77768454		2015	4174	6189	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768454C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9297C>A	8.37:g.77768454C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P3099P|ZFHX4_uc003yaw.1_Silent_p.P3054P	p.P3054P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9549	+			3054			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9162C>A	CCDS47878.2																																																																																				0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	41	1	0	3.51602e-12	0.008871	5.03485e-12	20	41				
ZFHX4	79776	broad.mit.edu	37	8	77775757	77775757	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77775757G>T	ENST00000521891.2	+	11	10255	c.9807G>T	c.(9805-9807)ggG>ggT	p.G3269G	ZFHX4_ENST00000050961.6_Silent_p.G3220G|ZFHX4_ENST00000455469.2_Silent_p.G3224G|ZFHX4_ENST00000518282.1_Silent_p.G3243G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTATCCCTGGGTTTGCTTCTT	0.493										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9670-9672)GGG>GGT		zinc finger homeodomain 4							143.0	135.0	138.0					8																	77775757		1898	4126	6024	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775757G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9807G>T	8.37:g.77775757G>T		HNSCC(33;0.089)					p.G3224G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10059	+			3220					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9672G>T	CCDS47878.2																																																																																				0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	80	1	0	1.55795e-14	0.001882	2.3748e-14	20	80				
ZFHX4	79776	broad.mit.edu	37	8	77776468	77776468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77776468G>A	ENST00000521891.2	+	11	10966	c.10518G>A	c.(10516-10518)caG>caA	p.Q3506Q	ZFHX4_ENST00000050961.6_Silent_p.Q3457Q|ZFHX4_ENST00000455469.2_Silent_p.Q3461Q|ZFHX4_ENST00000518282.1_Silent_p.Q3480Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3457	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACCTCGCAGTCTGCAGCTT	0.438										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(10381-10383)CAG>CAA		zinc finger homeodomain 4							104.0	105.0	105.0					8																	77776468		2100	4243	6343	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77776468G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10518G>A	8.37:g.77776468G>A		HNSCC(33;0.089)					p.Q3461Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10770	+			3457			Ser-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.10383G>A	CCDS47878.2																																																																																				0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	15	0	0	0	0.003954	0	23	15				
LRRCC1	85444	broad.mit.edu	37	8	86048158	86048158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:86048158G>T	ENST00000360375.3	+	14	2438	c.2289G>T	c.(2287-2289)agG>agT	p.R763S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R743S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	763					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTGGTTTAAGGACAGAAAGAA	0.368																																							uc003ycw.2		NA																	0					0						c.(2287-2289)AGG>AGT		sodium channel associated protein 2 isoform a							99.0	99.0	99.0					8																	86048158		1845	4093	5938	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86048158G>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2289G>T	8.37:g.86048158G>T	ENSP00000353538:p.Arg763Ser					LRRCC1_uc010maa.1_Missense_Mutation_p.R464S|LRRCC1_uc003ycx.2_Missense_Mutation_p.R670S|LRRCC1_uc003ycy.2_Missense_Mutation_p.R743S	p.R763S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			14	2443	+			763					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2289G>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245443	0.80024	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.49139	0.79;0.8	6.01	2.89	0.33648	.	0.000000	0.44285	D	0.000475	T	0.56016	0.1957	M	0.62723	1.935	0.40520	D	0.980828	D;D;D;D	0.67145	0.986;0.975;0.986;0.996	P;P;P;D	0.63877	0.88;0.83;0.88;0.919	T	0.54774	-0.8243	10	0.40728	T	0.16	-8.8287	5.4492	0.16552	0.5045:0.0:0.4955:0.0	.	670;743;670;763	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	763;743	ENSP00000353538:R763S;ENSP00000394695:R743S	ENSP00000353538:R763S	R	+	3	2	LRRCC1	86235410	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.150000	0.50662	0.878000	0.35920	0.650000	0.86243	AGG		0.368	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		13	40	1	0	1.35283e-19	0.004007	2.28428e-19	13	40				
SLC26A7	115111	broad.mit.edu	37	8	92307860	92307860	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:92307860G>C	ENST00000276609.3	+	4	645	c.406G>C	c.(406-408)Ggc>Cgc	p.G136R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.G136R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G136R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGCGTGCTGGGCTTATCCGA	0.483																																							uc003yex.2		NA																	0				ovary(2)	2						c.(406-408)GGC>CGC		solute carrier family 26, member 7 isoform a							159.0	133.0	142.0					8																	92307860		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92307860G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.406G>C	8.37:g.92307860G>C	ENSP00000276609:p.Gly136Arg					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.G136R|SLC26A7_uc003yfa.2_Missense_Mutation_p.G136R	p.G136R	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		5	684	+			136			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.406G>C	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.796735|3.796735	0.70567|0.70567	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D;D|.	0.93488|.	-2.89;-3.22;-3.22;-3.23|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73156|0.73156	0.3551|0.3551	M|M	0.62723|0.62723	1.935|1.935	0.46701|0.46701	D|D	0.999166|0.999166	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.71020|0.71020	-0.4713|-0.4713	10|5	0.26408|.	T|.	0.33|.	.|.	18.1071|18.1071	0.89524|0.89524	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;136|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	R|C	136|3	ENSP00000428881:G136R;ENSP00000428849:G136R;ENSP00000276609:G136R;ENSP00000309504:G136R|.	ENSP00000276609:G136R|.	G|W	+|+	1|3	0|0	SLC26A7|SLC26A7	92377036|92377036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	6.003000|6.003000	0.70701|0.70701	2.576000|2.576000	0.86940|0.86940	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.483	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			28	41	0	0	0	0.004656	0	28	41				
LRP12	29967	broad.mit.edu	37	8	105503727	105503727	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:105503727T>A	ENST00000276654.5	-	7	1862	c.1754A>T	c.(1753-1755)cAg>cTg	p.Q585L	LRP12_ENST00000424843.2_Missense_Mutation_p.Q566L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	585					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAATCCAAGCTGAGATCGTAC	0.368																																							uc003yma.2		NA																	0					0						c.(1753-1755)CAG>CTG		low density lipoprotein-related protein 12							52.0	54.0	54.0					8																	105503727		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503727T>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1754A>T	8.37:g.105503727T>A	ENSP00000276654:p.Gln585Leu					LRP12_uc003ymb.2_Missense_Mutation_p.Q566L|LRP12_uc003ylz.2_5'UTR	p.Q585L	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1849	-			585			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1754A>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843434	0.91197	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94232	-1.91;-1.84;-3.38	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.94561	0.8248	L	0.34521	1.04	0.80722	D	1	D;D	0.60160	0.981;0.987	D;D	0.70487	0.969;0.953	D	0.95268	0.8375	10	0.72032	D	0.01	-13.0905	16.542	0.84395	0.0:0.0:0.0:1.0	.	566;585	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	566;585;174	ENSP00000399148:Q566L;ENSP00000276654:Q585L;ENSP00000429305:Q174L	ENSP00000276654:Q585L	Q	-	2	0	LRP12	105572903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.304000	0.77564	0.528000	0.53228	CAG		0.368	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		21	28	0	0	0	0.00278	0	21	28				
ZFPM2	23414	broad.mit.edu	37	8	106815547	106815547	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:106815547C>T	ENST00000407775.2	+	8	3487	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	ZFPM2_ENST00000520492.1_Silent_p.I947I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.I947I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.I810I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1079					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTCGTGGATCTCTGAGAACC	0.493																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3235-3237)ATC>ATT		zinc finger protein, multitype 2							57.0	57.0	57.0					8																	106815547		1930	4128	6058	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815547C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3237C>T	8.37:g.106815547C>T						ZFPM2_uc011lhs.1_Silent_p.I810I	p.I1079I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3260	+			1079					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3237C>T	CCDS47908.1																																																																																				0.493	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	17	0	0	0	0.001984	0	7	17				
ZFPM2	23414	broad.mit.edu	37	8	106815570	106815570	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:106815570A>G	ENST00000407775.2	+	8	3510	c.3260A>G	c.(3259-3261)aAt>aGt	p.N1087S	ZFPM2_ENST00000520492.1_Missense_Mutation_p.N955S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N955S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N818S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1087					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTAGCTGCCAATGAGAATGTC	0.498																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3259-3261)AAT>AGT		zinc finger protein, multitype 2							54.0	53.0	53.0					8																	106815570		1920	4119	6039	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815570A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3260A>G	8.37:g.106815570A>G	ENSP00000384179:p.Asn1087Ser					ZFPM2_uc011lhs.1_Missense_Mutation_p.N818S	p.N1087S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3283	+			1087					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3260A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	9.918	1.211267	0.22289	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19669	2.13;2.61;2.61;3.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.06267	-1.0836	10	0.22706	T	0.39	.	16.1671	0.81777	1.0:0.0:0.0:0.0	.	1087	Q8WW38	FOG2_HUMAN	S	1087;955;955;818	ENSP00000384179:N1087S;ENSP00000430757:N955S;ENSP00000428720:N955S;ENSP00000367733:N818S	ENSP00000367733:N818S	N	+	2	0	ZFPM2	106884746	1.000000	0.71417	0.638000	0.29380	0.897000	0.52465	7.166000	0.77553	2.224000	0.72417	0.528000	0.53228	AAT		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			8	21	0	0	0	0.004482	0	8	21				
ENY2	56943	broad.mit.edu	37	8	110355686	110355686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:110355686C>A	ENST00000521662.1	+	5	355	c.267C>A	c.(265-267)ttC>ttA	p.F89L	ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000521688.1_Missense_Mutation_p.F94L					enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TAAGAACATTCCTTGCTCAGC	0.328																																							uc003ynd.2		NA																	0					0						c.(280-282)TTC>TTA		enhancer of yellow 2 homolog							163.0	159.0	160.0					8																	110355686		1840	4080	5920	SO:0001583	missense	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110355686C>A		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521662.1:c.267C>A	8.37:g.110355686C>A	ENSP00000429713:p.Phe89Leu					ENY2_uc003ync.2_Missense_Mutation_p.F89L	p.F94L	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		5	344	+	all_neural(195;0.219)		94						Missense_Mutation	SNP	ENST00000521662.1	37	c.282C>A	CCDS55270.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004476	0.74932	.	.	ENSG00000120533	ENST00000521662;ENST00000521688	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.85373	2.75	0.80722	D	1	P	0.50528	0.936	P	0.54431	0.752	T	0.79427	-0.1808	9	0.51188	T	0.08	-6.0932	18.9386	0.92597	0.0:1.0:0.0:0.0	.	94	Q9NPA8	ENY2_HUMAN	L	89;94	.	ENSP00000429713:F89L	F	+	3	2	ENY2	110424862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.390000	0.44416	2.817000	0.96982	0.563000	0.77884	TTC		0.328	ENY2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381002.1	NM_020189		39	57	1	0	1.02591e-13	0.002522	1.53301e-13	39	57				
CSMD3	114788	broad.mit.edu	37	8	113484862	113484863	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:113484862_113484863CC>AT	ENST00000297405.5	-	32	5596_5597	c.5352_5353GG>AT	c.(5350-5355)gtGGga>gtATga	p.G1785*	AC024996.1_ENST00000582664.1_RNA|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1785*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1681*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1745*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1785	CUB 10. {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						CAATTATGTCCCACACTGTAAT	0.361										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.(5350-5355)GTGGGA>GTATGA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113484862_113484863CC>AT	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.5352_5353delinsAT	8.37:g.113484862_113484863delinsAT	ENSP00000297405:p.Gly1785*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G1057*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1745*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1681*	p.G1785*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			32	5511_5512	-			1785			Extracellular (Potential).|CUB 10.		Q96PZ3	Nonsense_Mutation	DNP	ENST00000297405.5	37	c.5352_5353GG>AT	CCDS6315.1																																																																																				0.361	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	69	0	0	0	0.004672	0	10	69				
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:113697930C>T	ENST00000297405.5	-	15	2431	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4. {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						GAACTGTTCCCATTGGTGCAG	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.(2185-2187)ATG>ATA		CUB and Sushi multiple domains 3 isoform 1							72.0	80.0	77.0					8																	113697930		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697930C>T	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.2187G>A	8.37:g.113697930C>T	ENSP00000297405:p.Met729Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M1I|CSMD3_uc003ynt.2_Missense_Mutation_p.M689I|CSMD3_uc011lhx.1_Missense_Mutation_p.M625I	p.M729I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2346	-			729			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2187G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.312059	0.60414	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.72	5.72	0.89469	CUB (5);	0.118364	0.52532	D	0.000074	T	0.19366	0.0465	N	0.14661	0.345	0.33814	D	0.628217	P;P;P	0.51147	0.69;0.562;0.942	B;P;P	0.51582	0.333;0.545;0.674	T	0.07252	-1.0782	10	0.27785	T	0.31	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	625;729;689	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	689;729;69;625;729	ENSP00000345799:M689I;ENSP00000297405:M729I;ENSP00000341558:M69I;ENSP00000412263:M625I;ENSP00000343124:M729I	ENSP00000297405:M729I	M	-	3	0	CSMD3	113767106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.390000	0.44416	2.711000	0.92665	0.655000	0.94253	ATG		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	40	0	0	0	0.005443	0	26	40				
FER1L6	654463	broad.mit.edu	37	8	125074109	125074109	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:125074109A>G	ENST00000522917.1	+	25	3370	c.3164A>G	c.(3163-3165)gAg>gGg	p.E1055G	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1055G|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1055	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGAGAACGAGCTTCTGCAC	0.567																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3163-3165)GAG>GGG		fer-1-like 6							73.0	75.0	74.0					8																	125074109		1999	4201	6200	SO:0001583	missense	654463					integral to membrane		g.chr8:125074109A>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3164A>G	8.37:g.125074109A>G	ENSP00000428280:p.Glu1055Gly					uc003yqy.1_Intron	p.E1055G	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		25	3370	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1055			Cytoplasmic (Potential).|C2 4.			Missense_Mutation	SNP	ENST00000522917.1	37	c.3164A>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480641	0.63849	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81908	-1.55;-1.55	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.92133	0.7506	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92575	0.6069	10	0.45353	T	0.12	-22.825	15.5824	0.76455	1.0:0.0:0.0:0.0	.	1055	Q2WGJ9	FR1L6_HUMAN	G	1055	ENSP00000428280:E1055G;ENSP00000381982:E1055G	ENSP00000381982:E1055G	E	+	2	0	FER1L6	125143290	1.000000	0.71417	0.737000	0.30932	0.147000	0.21601	9.287000	0.95975	2.210000	0.71456	0.533000	0.62120	GAG		0.567	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		11	42	0	0	0	0.000978	0	11	42				
TG	7038	broad.mit.edu	37	8	133912572	133912572	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:133912572A>T	ENST00000220616.4	+	15	3461	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C	TG_ENST00000377869.1_Missense_Mutation_p.S1141C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1141	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCTCGAGCAGCAGTGCCCA	0.617																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(3421-3423)AGC>TGC		thyroglobulin precursor							65.0	51.0	55.0					8																	133912572		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133912572A>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3421A>T	8.37:g.133912572A>T	ENSP00000220616:p.Ser1141Cys					TG_uc010mdw.2_Intron	p.S1141C	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	15	3462	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1141			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3421A>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077106	0.55753	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.66280	-0.2;-0.19	5.55	-3.08	0.05347	Thyroglobulin type-1 (3);	1.646170	0.02772	N	0.119812	T	0.74068	0.3668	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	D	0.65323	0.934	T	0.64232	-0.6456	10	0.87932	D	0	.	6.7764	0.23622	0.5004:0.1269:0.3727:0.0	.	1141	P01266	THYG_HUMAN	C	1141	ENSP00000367100:S1141C;ENSP00000220616:S1141C	ENSP00000220616:S1141C	S	+	1	0	TG	133981754	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	-0.026000	0.12392	-0.523000	0.06409	-0.441000	0.05720	AGC		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		9	7	0	0	0	0.004482	0	9	7				
FAM135B	51059	broad.mit.edu	37	8	139163958	139163958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139163958G>T	ENST00000395297.1	-	13	2930	c.2760C>A	c.(2758-2760)aaC>aaA	p.N920K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	920										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGATGCCACTGTTGGAAAGAG	0.507										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(2758-2760)AAC>AAA		hypothetical protein LOC51059							137.0	130.0	132.0					8																	139163958		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163958G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2760C>A	8.37:g.139163958G>T	ENSP00000378710:p.Asn920Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.N821K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.N482K|FAM135B_uc003yvb.2_Missense_Mutation_p.N482K	p.N920K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2931	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		920					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2760C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944029	0.34283	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.45	0.102	0.14522	.	1.361830	0.04333	N	0.352669	T	0.11495	0.0280	L	0.27053	0.805	0.09310	N	1	B;B;B	0.24920	0.114;0.065;0.006	B;B;B	0.21708	0.036;0.025;0.002	T	0.31052	-0.9957	10	0.23891	T	0.37	-1.128	4.5091	0.11903	0.2251:0.0:0.5165:0.2584	.	920;920;920	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	920	ENSP00000378710:N920K	ENSP00000276737:N920K	N	-	3	2	FAM135B	139233140	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.637000	0.05459	-0.032000	0.13758	-0.150000	0.13652	AAC		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		28	82	1	0	7.76418e-22	0.005443	1.3538e-21	28	82				
FAM135B	51059	broad.mit.edu	37	8	139278033	139278033	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139278033C>A	ENST00000395297.1	-	4	380	c.210G>T	c.(208-210)cgG>cgT	p.R70R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	70										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGAAAGACCCGGCTGTGCA	0.478										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(208-210)CGG>CGT		hypothetical protein LOC51059							86.0	86.0	86.0					8																	139278033		1971	4170	6141	SO:0001819	synonymous_variant	51059							g.chr8:139278033C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.210G>T	8.37:g.139278033C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.R70R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	381	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		70					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.210G>T	CCDS6375.2																																																																																				0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	33	1	0	1.99824e-07	0.00499	2.46911e-07	16	33				
COL22A1	169044	broad.mit.edu	37	8	139791781	139791781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139791781G>T	ENST00000303045.6	-	14	2121	c.1675C>A	c.(1675-1677)Ccg>Acg	p.P559T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P559T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	559	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCAGCCCCGGCTCTCCCAGC	0.607										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1675-1677)CCG>ACG		collagen, type XXII, alpha 1							56.0	61.0	59.0					8																	139791781		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139791781G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1675C>A	8.37:g.139791781G>T	ENSP00000303153:p.Pro559Thr	HNSCC(7;0.00092)					p.P559T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		14	2122	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		559			Pro-rich.|Gly-rich.|Collagen-like 2.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1675C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301912	0.23736	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.94457	-3.15;-3.15;-3.43	3.78	3.78	0.43462	.	1.101620	0.07086	U	0.837937	D	0.93575	0.7949	N	0.20445	0.575	0.30410	N	0.779185	D	0.63046	0.992	P	0.60415	0.874	D	0.88023	0.2770	10	0.31617	T	0.26	.	11.4196	0.49974	0.0:0.0:1.0:0.0	.	559	Q8NFW1	COMA1_HUMAN	T	559;559;9	ENSP00000303153:P559T;ENSP00000387655:P559T;ENSP00000428244:P9T	ENSP00000303153:P559T	P	-	1	0	COL22A1	139860963	0.968000	0.33430	0.986000	0.45419	0.788000	0.44548	3.487000	0.53222	2.378000	0.81104	0.555000	0.69702	CCG		0.607	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		27	27	1	0	8.16721e-17	0.002096	1.30712e-16	27	27				
KCNK9	51305	broad.mit.edu	37	8	140631244	140631244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:140631244G>T	ENST00000520439.1	-	2	445	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	KCNK9_ENST00000303015.1_Missense_Mutation_p.L128M|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	128					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)	CGCTCGCCCAGGCTCTGGAAC	0.587																																							uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(382-384)CTG>ATG		potassium channel, subfamily K, member 9							87.0	70.0	76.0					8																	140631244		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631244G>T	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.382C>A	8.37:g.140631244G>T	ENSP00000430676:p.Leu128Met					KCNK9_uc003yvg.1_Missense_Mutation_p.L128M|KCNK9_uc003yve.1_RNA	p.L128M	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	446	-	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)	128			Helical; (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.382C>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586785	0.66105	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26660	1.72;1.72;1.72	5.73	5.73	0.89815	Ion transport 2 (1);	0.091307	0.47093	D	0.000258	T	0.40473	0.1118	L	0.45744	1.44	0.53005	D	0.999969	D	0.61697	0.99	D	0.65987	0.94	T	0.16100	-1.0414	10	0.72032	D	0.01	.	10.4268	0.44383	0.1483:0.0:0.8517:0.0	.	128	Q9NPC2	KCNK9_HUMAN	M	128	ENSP00000429847:L128M;ENSP00000302166:L128M;ENSP00000430676:L128M	ENSP00000302166:L128M	L	-	1	2	KCNK9	140700426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.308000	0.51896	2.692000	0.91855	0.655000	0.94253	CTG		0.587	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		11	19	1	0	2.80697e-09	0.000978	3.68639e-09	11	19				
PLEC	5339	broad.mit.edu	37	8	144991533	144991533	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:144991533C>T	ENST00000322810.4	-	32	13036	c.12867G>A	c.(12865-12867)atG>atA	p.M4289I	PLEC_ENST00000354589.3_Missense_Mutation_p.M4152I|PLEC_ENST00000357649.2_Missense_Mutation_p.M4156I|PLEC_ENST00000354958.2_Missense_Mutation_p.M4130I|PLEC_ENST00000356346.3_Missense_Mutation_p.M4138I|PLEC_ENST00000398774.2_Missense_Mutation_p.M4120I|PLEC_ENST00000436759.2_Missense_Mutation_p.M4179I|PLEC_ENST00000527096.1_Missense_Mutation_p.M4175I|PLEC_ENST00000345136.3_Missense_Mutation_p.M4152I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4289	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTACACTGACATCTCCTTGC	0.622																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12865-12867)ATG>ATA		plectin isoform 1							77.0	86.0	83.0					8																	144991533		2152	4251	6403	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991533C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12867G>A	8.37:g.144991533C>T	ENSP00000323856:p.Met4289Ile					PLEC_uc003zab.1_Missense_Mutation_p.M4152I|PLEC_uc003zac.1_Missense_Mutation_p.M4156I|PLEC_uc003zad.2_Missense_Mutation_p.M4152I|PLEC_uc003zae.1_Missense_Mutation_p.M4120I|PLEC_uc003zag.1_Missense_Mutation_p.M4130I|PLEC_uc003zah.2_Missense_Mutation_p.M4138I|PLEC_uc003zaj.2_Missense_Mutation_p.M4179I	p.M4289I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13037	-			4289			Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12867G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763170	0.31228	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	T	0.77751	0.4177	M	0.74647	2.275	0.58432	D	0.999994	P;P;P;P;P;P;P;P	0.44195	0.794;0.794;0.794;0.828;0.794;0.794;0.794;0.794	B;B;B;P;B;B;B;B	0.47251	0.406;0.406;0.406;0.542;0.406;0.406;0.406;0.406	T	0.81267	-0.1010	10	0.72032	D	0.01	.	18.2584	0.90025	0.0:1.0:0.0:0.0	.	4179;4138;4130;4289;4120;4152;4156;4152	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	4152;4156;4152;4120;4289;4130;4138;4179;4175	ENSP00000344848:M4152I;ENSP00000350277:M4156I;ENSP00000346602:M4152I;ENSP00000381756:M4120I;ENSP00000323856:M4289I;ENSP00000347044:M4130I;ENSP00000348702:M4138I;ENSP00000388180:M4179I;ENSP00000434583:M4175I	ENSP00000323856:M4289I	M	-	3	0	PLEC	145063521	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.875000	0.69660	2.644000	0.89710	0.498000	0.49722	ATG		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	28	0	0	0	0.003954	0	23	28				
DOCK8	81704	broad.mit.edu	37	9	376232	376232	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:376232C>T	ENST00000453981.1	+	19	2244	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	DOCK8_ENST00000432829.2_Missense_Mutation_p.P643L|DOCK8_ENST00000382329.1_Missense_Mutation_p.P178L|DOCK8_ENST00000382331.1_Missense_Mutation_p.P13L|DOCK8_ENST00000469391.1_Missense_Mutation_p.P643L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	711	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGAATCCTCCCATTAAGTGG	0.373																																							uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2131-2133)CCC>CTC		dedicator of cytokinesis 8							127.0	126.0	126.0					9																	376232		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376232C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2132C>T	9.37:g.376232C>T	ENSP00000408464:p.Pro711Leu					DOCK8_uc010mgu.2_Missense_Mutation_p.P13L|DOCK8_uc010mgv.2_Missense_Mutation_p.P643L|DOCK8_uc010mgw.1_Missense_Mutation_p.P13L|DOCK8_uc003zgk.2_Missense_Mutation_p.P169L|DOCK8_uc003zgh.2_RNA	p.P711L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2244	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	711					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2132C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564109	0.86335	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.17528	2.61;2.62;2.62;2.27;2.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	L	0.51422	1.61	0.80722	D	1	D;D;P;D	0.89917	1.0;0.984;0.854;0.98	D;D;P;P	0.91635	0.999;0.917;0.565;0.893	T	0.05649	-1.0872	10	0.62326	D	0.03	.	19.8078	0.96537	0.0:1.0:0.0:0.0	.	13;643;178;711	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	L	711;711;643;643;13;178	ENSP00000408464:P711L;ENSP00000394888:P643L;ENSP00000419438:P643L;ENSP00000371768:P13L;ENSP00000371766:P178L	ENSP00000287364:P711L	P	+	2	0	DOCK8	366232	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.773000	0.47686	2.661000	0.90470	0.650000	0.86243	CCC		0.373	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		33	103	0	0	0	0.002836	0	33	103				
DOCK8	81704	broad.mit.edu	37	9	421071	421071	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:421071G>T	ENST00000453981.1	+	32	4258	c.4146G>T	c.(4144-4146)cgG>cgT	p.R1382R	DOCK8_ENST00000432829.2_Silent_p.R1314R|DOCK8_ENST00000382329.1_Silent_p.R849R|DOCK8_ENST00000469391.1_Silent_p.R1282R|DOCK8_ENST00000493666.2_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1382					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCGCCGCCGGGCTCCAGGTG	0.572																																							uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(4144-4146)CGG>CGT		dedicator of cytokinesis 8							57.0	63.0	61.0					9																	421071		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:421071G>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4146G>T	9.37:g.421071G>T						DOCK8_uc010mgu.2_Silent_p.R684R|DOCK8_uc010mgv.2_Silent_p.R1282R|DOCK8_uc003zgk.2_Silent_p.R840R	p.R1382R	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	32	4258	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1382			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.4146G>T	CCDS6440.2																																																																																				0.572	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		64	17	1	0	3.58576e-35	0.00361	6.75904e-35	64	17				
SMARCA2	6595	broad.mit.edu	37	9	2110400	2110400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2110400G>A	ENST00000382203.1	+	24	3648	c.3439G>A	c.(3439-3441)Gac>Aac	p.D1147N	SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1147N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1147N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1147N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1147	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTTGACAGCGACTGGAATCC	0.483																																							uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3439-3441)GAC>AAC		SWI/SNF-related matrix-associated							74.0	67.0	70.0					9																	2110400		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2110400G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3439G>A	9.37:g.2110400G>A	ENSP00000371638:p.Asp1147Asn					SMARCA2_uc003zhd.2_Missense_Mutation_p.D1147N|SMARCA2_uc010mha.2_Missense_Mutation_p.D1080N	p.D1147N	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	24	3538	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1147			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3439G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806128	0.90623	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.45	4.56	0.56223	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	M	0.88979	2.995	0.80722	D	1	D;B;B	0.89917	1.0;0.027;0.007	D;B;B	0.97110	1.0;0.007;0.008	D	0.91449	0.5180	10	0.87932	D	0	-28.5856	14.495	0.67680	0.0709:0.0:0.9291:0.0	.	748;1147;1147	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	N	1147	ENSP00000265773:D1147N;ENSP00000349788:D1147N;ENSP00000371638:D1147N;ENSP00000371629:D1147N	ENSP00000265773:D1147N	D	+	1	0	SMARCA2	2100400	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.866000	0.99616	1.446000	0.47643	-0.136000	0.14681	GAC		0.483	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		12	10	0	0	0	0.001855	0	12	10				
SMARCA2	6595	broad.mit.edu	37	9	2115969	2115969	+	Missense_Mutation	SNP	G	G	T	rs281875239		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2115969G>T	ENST00000382203.1	+	25	3813	c.3604G>T	c.(3604-3606)Ggc>Tgc	p.G1202C	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1202C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1202C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1202C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1202	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		G -> C (in NCBRS; dbSNP:rs281875239). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATCCAGGCGGGCATGTTTGA	0.532											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3604-3606)GGC>TGC		SWI/SNF-related matrix-associated							46.0	45.0	46.0					9																	2115969		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2115969G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3604G>T	9.37:g.2115969G>T	ENSP00000371638:p.Gly1202Cys		OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	SMARCA2_uc003zhd.2_Missense_Mutation_p.G1202C|SMARCA2_uc010mha.2_Missense_Mutation_p.G1135C	p.G1202C	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3703	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1202			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3604G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827782	0.71143	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.90844	-2.74;-2.7;-2.74;-2.7	5.67	5.67	0.87782	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	H	0.96269	3.795	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	0.97964	1.0339	10	0.87932	D	0	-20.6368	19.7699	0.96359	0.0:0.0:1.0:0.0	.	803;1202;1202	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	C	1202	ENSP00000265773:G1202C;ENSP00000349788:G1202C;ENSP00000371638:G1202C;ENSP00000371629:G1202C	ENSP00000265773:G1202C	G	+	1	0	SMARCA2	2105969	1.000000	0.71417	0.965000	0.40720	0.793000	0.44817	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	GGC		0.532	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		17	8	1	0	1.67942e-08	0.006122	2.14882e-08	17	8				
KCNV2	169522	broad.mit.edu	37	9	2718331	2718331	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2718331T>A	ENST00000382082.3	+	1	830	c.592T>A	c.(592-594)Tgc>Agc	p.C198S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	198					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CACGCCACGCTGCTGCCGCAT	0.697																																							uc003zho.1		NA																	0				ovary(1)|central_nervous_system(1)	2	GRCh37	CM074302	KCNV2	M		c.(592-594)TGC>AGC		potassium channel, subfamily V, member 2							10.0	10.0	10.0					9																	2718331		2160	4205	6365	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718331T>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.592T>A	9.37:g.2718331T>A	ENSP00000371514:p.Cys198Ser						p.C198S	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	806	+			198			Extracellular (Potential).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.592T>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430752	0.83776	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.94497	-3.44	4.91	4.91	0.64330	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	14.5675	0.68188	0.0:0.0:0.0:1.0	.	198	Q8TDN2	KCNV2_HUMAN	S	198	ENSP00000371514:C198S	ENSP00000371514:C198S	C	+	1	0	KCNV2	2708331	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.021000	0.88750	1.842000	0.53543	0.334000	0.21626	TGC		0.697	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		3	9	0	0	0	0.004672	0	3	9				
KCNV2	169522	broad.mit.edu	37	9	2729457	2729457	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2729457C>A	ENST00000382082.3	+	2	1606	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	456					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGAGCATCTCCACCGTGGGCT	0.532																																							uc003zho.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1366-1368)TCC>TCA		potassium channel, subfamily V, member 2							110.0	92.0	98.0					9																	2729457		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2729457C>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1368C>A	9.37:g.2729457C>A							p.S456S	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	2	1582	+			456					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1368C>A	CCDS6447.1																																																																																				0.532	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		35	13	1	0	1.15183e-24	0.009718	2.08399e-24	35	13				
PTPRD	5789	broad.mit.edu	37	9	8499771	8499771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:8499771C>T	ENST00000381196.4	-	22	2741	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	PTPRD_ENST00000360074.4_Missense_Mutation_p.R720H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R720H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.R733H|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R733H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	733	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGGGTGAGCGCCATGAGAC	0.473										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2197-2199)CGC>CAC		protein tyrosine phosphatase, receptor type, D							169.0	147.0	154.0					9																	8499771		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499771C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2198G>A	9.37:g.8499771C>T	ENSP00000370593:p.Arg733His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R733H|PTPRD_uc003zkm.2_Missense_Mutation_p.R720H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.R733H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2909	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	733			Fibronectin type-III 5.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2198G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723811	0.89298	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73380	0.954;0.98;0.953	T	0.72757	-0.4197	9	.	.	.	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	720;733;733	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	733;733;720;720;733	ENSP00000370593:R733H;ENSP00000348812:R733H;ENSP00000353187:R720H;ENSP00000351293:R720H;ENSP00000438164:R733H	.	R	-	2	0	PTPRD	8489771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.782000	0.68973	2.699000	0.92147	0.591000	0.81541	CGC		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			47	23	0	0	0	0.00361	0	47	23				
FREM1	158326	broad.mit.edu	37	9	14737481	14737481	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14737481A>T	ENST00000380880.3	-	37	7236	c.6453T>A	c.(6451-6453)tgT>tgA	p.C2151*	FREM1_ENST00000380881.4_Nonsense_Mutation_p.C2152*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.C2151*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.C687*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAACCAAAACACAGCTCTTTC	0.473																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(6451-6453)TGT>TGA		FRAS1 related extracellular matrix 1 precursor							78.0	78.0	78.0					9																	14737481		1879	4113	5992	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14737481A>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6453T>A	9.37:g.14737481A>T	ENSP00000370262:p.Cys2151*					FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.C687*	p.C2151*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	37	7043	-			2151			C-type lectin.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.6453T>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	51	17.343268	0.99884	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.97	1.28	0.21552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4687	9.5615	0.39371	0.6911:0.0:0.3089:0.0	.	.	.	.	X	2152;2151;687;2151	.	ENSP00000370262:C2151X	C	-	3	2	FREM1	14727481	0.990000	0.36364	1.000000	0.80357	0.687000	0.40016	0.450000	0.21762	0.221000	0.20879	-0.462000	0.05337	TGT		0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		28	9	0	0	0	0.005443	0	28	9				
FREM1	158326	broad.mit.edu	37	9	14824823	14824823	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14824823A>T	ENST00000380880.3	-	11	2832	c.2049T>A	c.(2047-2049)acT>acA	p.T683T	FREM1_ENST00000380881.4_Silent_p.T684T|FREM1_ENST00000422223.2_Silent_p.T683T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	683					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGGAGGAGTAGTTATTGTGT	0.383																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2047-2049)ACT>ACA		FRAS1 related extracellular matrix 1 precursor							56.0	54.0	54.0					9																	14824823		1852	4090	5942	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824823A>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2049T>A	9.37:g.14824823A>T						FREM1_uc010mic.2_RNA	p.T683T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2639	-			683			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2049T>A	CCDS47952.1																																																																																				0.383	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	6	0	0	0	0.00308	0	8	6				
FREM1	158326	broad.mit.edu	37	9	14857621	14857621	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14857621G>A	ENST00000380880.3	-	5	1541	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FREM1_ENST00000380881.4_Missense_Mutation_p.P253L|FREM1_ENST00000422223.2_Missense_Mutation_p.P253L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	253					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTGGGTGAAGGGGGATCCAG	0.493																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(757-759)CCT>CTT		FRAS1 related extracellular matrix 1 precursor							185.0	179.0	181.0					9																	14857621		1913	4129	6042	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14857621G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.758C>T	9.37:g.14857621G>A	ENSP00000370262:p.Pro253Leu					FREM1_uc010mic.2_RNA	p.P253L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	5	1348	-			253					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.758C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967278	0.74131	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11604	2.76;2.76;2.76	5.93	5.93	0.95920	.	0.048809	0.85682	D	0.000000	T	0.37865	0.1019	M	0.82923	2.615	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.08827	-1.0703	10	0.66056	D	0.02	-15.2679	17.2921	0.87159	0.0:0.1249:0.8751:0.0	.	253	Q5H8C1	FREM1_HUMAN	L	253	ENSP00000370263:P253L;ENSP00000412940:P253L;ENSP00000370262:P253L	ENSP00000370257:P253L	P	-	2	0	FREM1	14847621	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.383000	0.79741	2.826000	0.97356	0.655000	0.94253	CCT		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		26	110	0	0	0	0.005443	0	26	110				
SLC24A2	25769	broad.mit.edu	37	9	19619672	19619672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:19619672G>C	ENST00000341998.2	-	3	1049	c.988C>G	c.(988-990)Cga>Gga	p.R330G	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R330G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	330					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTTCCACCTCGCTGGAGACGC	0.493																																							uc003zoa.1		NA																	0				ovary(3)	3						c.(988-990)CGA>GGA		solute carrier family 24							159.0	137.0	144.0					9																	19619672		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19619672G>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.988C>G	9.37:g.19619672G>C	ENSP00000344801:p.Arg330Gly					SLC24A2_uc003zob.1_Missense_Mutation_p.R330G	p.R330G	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	3	1050	-			330			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.988C>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185585	0.57909	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77620	-1.11;-1.07	5.8	1.43	0.22495	.	0.000000	0.85682	D	0.000000	D	0.83774	0.5327	M	0.72894	2.215	0.80722	D	1	D;B	0.55800	0.973;0.404	P;B	0.58331	0.837;0.142	D	0.84909	0.0847	9	.	.	.	.	15.6892	0.77436	0.0:0.0:0.4667:0.5333	.	330;330	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	G	330	ENSP00000344801:R330G;ENSP00000286344:R330G	.	R	-	1	2	SLC24A2	19609672	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.880000	0.28159	0.763000	0.33175	0.650000	0.86243	CGA		0.493	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		20	81	0	0	0	0.008871	0	20	81				
OR13J1	392309	broad.mit.edu	37	9	35869685	35869685	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869685G>A	ENST00000377981.2	-	1	776	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGGAGAAGGCTTTGC	0.567																																							uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(712-714)TTC>TTT		olfactory receptor, family 13, subfamily J,							71.0	66.0	68.0					9																	35869685		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869685G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.714C>T	9.37:g.35869685G>A							p.F238F	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	714	-	all_epithelial(49;0.169)		238			Helical; Name=6; (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.714C>T	CCDS35011.1																																																																																				0.567	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			9	13	0	0	0	0.004482	0	9	13				
OR13J1	392309	broad.mit.edu	37	9	35869736	35869736	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869736G>A	ENST00000377981.2	-	1	725	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TGGTGGCCAGGATGAGCAAGT	0.617																																							uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(661-663)ATC>ATT		olfactory receptor, family 13, subfamily J,							57.0	48.0	51.0					9																	35869736		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869736G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.663C>T	9.37:g.35869736G>A							p.I221I	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	663	-	all_epithelial(49;0.169)		221			Cytoplasmic (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.663C>T	CCDS35011.1																																																																																				0.617	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			15	11	0	0	0	0.003163	0	15	11				
OR13J1	392309	broad.mit.edu	37	9	35869787	35869787	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869787G>T	ENST00000377981.2	-	1	674	c.612C>A	c.(610-612)atC>atA	p.I204I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCAGCAGGATGGAGCCCG	0.617																																							uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(610-612)ATC>ATA		olfactory receptor, family 13, subfamily J,							56.0	44.0	48.0					9																	35869787		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869787G>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.612C>A	9.37:g.35869787G>T							p.I204I	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	612	-	all_epithelial(49;0.169)		204			Helical; Name=5; (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.612C>A	CCDS35011.1																																																																																				0.617	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			15	13	1	0	1.49906e-05	0.00245	1.72931e-05	15	13				
OR13J1	392309	broad.mit.edu	37	9	35869804	35869804	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869804G>C	ENST00000377981.2	-	1	657	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGCCAGCAGGAAGTCTTCG	0.627																																							uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(595-597)CTG>GTG		olfactory receptor, family 13, subfamily J,							59.0	48.0	52.0					9																	35869804		2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869804G>C		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.595C>G	9.37:g.35869804G>C	ENSP00000367219:p.Leu199Val						p.L199V	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	595	-	all_epithelial(49;0.169)		199			Helical; Name=5; (Potential).		B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.595C>G	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399549	0.25291	.	.	ENSG00000168828	ENST00000377981	T	0.00164	8.64	4.68	0.557	0.17260	GPCR, rhodopsin-like superfamily (1);	0.132735	0.32802	N	0.005634	T	0.00144	0.0004	N	0.21142	0.635	0.27688	N	0.946222	D	0.59767	0.986	P	0.54965	0.765	T	0.51148	-0.8742	10	0.31617	T	0.26	.	4.0932	0.09978	0.4171:0.1734:0.4095:0.0	.	199	Q8NGT2	O13J1_HUMAN	V	199	ENSP00000367219:L199V	ENSP00000367219:L199V	L	-	1	2	OR13J1	35859804	0.194000	0.23325	0.679000	0.29978	0.202000	0.24057	0.952000	0.29149	0.103000	0.17682	0.650000	0.86243	CTG		0.627	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			13	17	0	0	0	0.001855	0	13	17				
CDC14B	8555	broad.mit.edu	37	9	99314142	99314142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:99314142C>A	ENST00000375241.1	-	5	884	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W	CDC14B_ENST00000265659.2_Missense_Mutation_p.G145W|CDC14B_ENST00000375240.3_Missense_Mutation_p.G145W|CDC14B_ENST00000375242.3_Missense_Mutation_p.G108W|CDC14B_ENST00000463569.1_Missense_Mutation_p.G145W|CDC14B_ENST00000375236.1_Missense_Mutation_p.G145W	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	145	A.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GGGGTTCTCCCCAAATATATA	0.328																																							uc004awj.2		NA																	0				ovary(1)	1						c.(433-435)GGG>TGG		CDC14 homolog B isoform 2							51.0	57.0	55.0					9																	99314142		2203	4297	6500	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99314142C>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.433G>T	9.37:g.99314142C>A	ENSP00000364389:p.Gly145Trp					CDC14B_uc004awk.2_Missense_Mutation_p.G145W|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.G108W	p.G145W	NM_033331	NP_201588	O60729	CC14B_HUMAN			5	885	-		Acute lymphoblastic leukemia(62;0.0559)	145			A.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.433G>T	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527035|3.527035	0.64860|0.64860	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000452280|ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236;ENST00000415608	.|T;T;T;T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69;0.69;0.69;0.69	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.346719|0.346719	0.33057|0.33057	N|N	0.005323|0.005323	T|T	0.65281|0.65281	0.2676|0.2676	M|M	0.72479|0.72479	2.2|2.2	0.41529|0.41529	D|D	0.988448|0.988448	.|D;D;D	.|0.69078	.|0.995;0.997;0.996	.|D;D;D	.|0.71414	.|0.97;0.942;0.973	T|T	0.68708|0.68708	-0.5337|-0.5337	6|10	.|0.66056	.|D	.|0.02	-9.2061|-9.2061	12.9447|12.9447	0.58365|0.58365	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145;108	.|O60729-2;O60729;A8MQ20	.|.;CC14B_HUMAN;.	V|W	122|145;145;145;108;145;145;129	.|ENSP00000265659:G145W;ENSP00000364389:G145W;ENSP00000364388:G145W;ENSP00000364390:G108W;ENSP00000420572:G145W;ENSP00000364384:G145W;ENSP00000400480:G129W	.|ENSP00000265659:G145W	G|G	-|-	2|1	0|0	CDC14B|CDC14B	98353963|98353963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.158000|2.158000	0.42329|0.42329	2.526000|2.526000	0.85167|0.85167	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.328	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		30	22	1	0	1.16021e-09	0.007291	1.53207e-09	30	22				
ANKS6	203286	broad.mit.edu	37	9	101536239	101536239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:101536239C>A	ENST00000353234.4	-	9	1788	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKS6_ENST00000375018.1_Missense_Mutation_p.G581W|ANKS6_ENST00000375019.2_Missense_Mutation_p.G280W|ANKS6_ENST00000540940.1_Missense_Mutation_p.G386W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	581						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCCTTCCCGTTGTGACGC	0.617																																							uc004ayu.2		NA																	0				ovary(2)	2						c.(1741-1743)GGG>TGG		ankyrin repeat and sterile alpha motif domain							43.0	49.0	47.0					9																	101536239		1936	4135	6071	SO:0001583	missense	203286							g.chr9:101536239C>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1741G>T	9.37:g.101536239C>A	ENSP00000297837:p.Gly581Trp					ANKS6_uc004ayt.2_Missense_Mutation_p.G280W|ANKS6_uc004ayv.1_Missense_Mutation_p.G43W|ANKS6_uc004ayw.1_Missense_Mutation_p.G163W|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.G581W	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			9	1762	-		Acute lymphoblastic leukemia(62;0.0527)	581					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1741G>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511389|2.511389	0.44660|0.44660	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.72167|.	1.53;-0.62;-0.63;1.81|.	5.48|5.48	3.62|3.62	0.41486|0.41486	.|.	0.049184|.	0.85682|.	D|.	0.000000|.	T|T	0.62258|0.62258	0.2413|0.2413	M|M	0.61703|0.61703	1.905|1.905	0.48901|0.48901	D|D	0.999724|0.999724	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75020|.	0.985;0.967|.	T|T	0.58358|0.58358	-0.7650|-0.7650	10|5	0.87932|.	D|.	0|.	-14.6462|-14.6462	10.113|10.113	0.42574|0.42574	0.0:0.8341:0.0:0.1659|0.0:0.8341:0.0:0.1659	.|.	581;581|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	W|L	280;581;581;386|49	ENSP00000364159:G280W;ENSP00000364158:G581W;ENSP00000297837:G581W;ENSP00000442189:G386W|.	ENSP00000297837:G581W|.	G|R	-|-	1|2	0|0	ANKS6|ANKS6	100576060|100576060	0.957000|0.957000	0.32711|0.32711	0.622000|0.622000	0.29159|0.29159	0.069000|0.069000	0.16628|0.16628	2.154000|2.154000	0.42291|0.42291	0.669000|0.669000	0.31146|0.31146	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.617	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		21	21	1	0	3.28513e-13	0.003954	4.81418e-13	21	21				
NR4A3	8013	broad.mit.edu	37	9	102595026	102595026	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:102595026T>G	ENST00000395097.2	+	4	1736	c.1007T>G	c.(1006-1008)gTa>gGa	p.V336G	NR4A3_ENST00000330847.1_Missense_Mutation_p.V347G|NR4A3_ENST00000338488.4_Missense_Mutation_p.V336G	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	336					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AACTGCCCAGTAGACAAGAGA	0.373			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		uc004baf.1		NA		Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	0				bone(173)	173						c.(1006-1008)GTA>GGA		nuclear receptor subfamily 4, group A, member 3							116.0	112.0	113.0					9																	102595026		2203	4300	6503	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102595026T>G	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1007T>G	9.37:g.102595026T>G	ENSP00000378531:p.Val336Gly					NR4A3_uc004bae.2_Missense_Mutation_p.V336G|NR4A3_uc004bag.1_Missense_Mutation_p.V336G|NR4A3_uc004bai.2_Missense_Mutation_p.V347G	p.V336G	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			4	1736	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	336			Nuclear receptor.|NR C4-type.		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1007T>G	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876234	0.72180	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.97994	-4.65;-4.65;-4.65	5.6	5.6	0.85130	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.061954	0.64402	D	0.000003	D	0.98811	0.9599	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.988	D	0.99827	1.1051	10	0.87932	D	0	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	347;336;336	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	G	336;336;160;347	ENSP00000378531:V336G;ENSP00000340301:V336G;ENSP00000333122:V347G	ENSP00000333122:V347G	V	+	2	0	NR4A3	101634847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.251000	0.74343	0.528000	0.53228	GTA		0.373	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			49	22	0	0	0	0.00361	0	49	22				
MURC	347273	broad.mit.edu	37	9	103348308	103348308	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:103348308A>G	ENST00000307584.5	+	2	735	c.670A>G	c.(670-672)Aga>Gga	p.R224G		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	224					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AATTAGAACTAGAATAGTGAC	0.468																																							uc004bba.2		NA																	0				ovary(1)	1						c.(670-672)AGA>GGA		muscle-related coiled-coil protein							110.0	119.0	116.0					9																	103348308		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348308A>G	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.670A>G	9.37:g.103348308A>G	ENSP00000418668:p.Arg224Gly						p.R224G	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	760	+		Acute lymphoblastic leukemia(62;0.0461)	224			Potential.		B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.670A>G	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770840	0.69992	.	.	ENSG00000170681	ENST00000307584	T	0.62498	0.02	5.27	5.27	0.74061	.	0.047123	0.85682	D	0.000000	T	0.75042	0.3796	M	0.63843	1.955	0.37755	D	0.926101	D	0.76494	0.999	D	0.69479	0.964	T	0.80412	-0.1393	10	0.87932	D	0	-23.6971	13.412	0.60948	1.0:0.0:0.0:0.0	.	224	Q5BKX8	MURC_HUMAN	G	224	ENSP00000418668:R224G	ENSP00000418668:R224G	R	+	1	2	MURC	102388129	0.997000	0.39634	0.989000	0.46669	0.997000	0.91878	3.446000	0.52928	2.117000	0.64856	0.459000	0.35465	AGA		0.468	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		62	29	0	0	0	0.00361	0	62	29				
SVEP1	79987	broad.mit.edu	37	9	113198698	113198698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:113198698G>A	ENST00000401783.2	-	28	5062	c.4726C>T	c.(4726-4728)Cag>Tag	p.Q1576*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Q1553*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1576	Pentaxin.				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						AGGTTGAGCTGGCTTATGGAG	0.468																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(4726-4728)CAG>TAG		polydom							125.0	124.0	124.0					9																	113198698		1895	4125	6020	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113198698G>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.4726C>T	9.37:g.113198698G>A	ENSP00000384917:p.Gln1576*						p.Q1576*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			28	5063	-			1576			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.4726C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	48	14.135734	0.99781	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	1576;1553	.	ENSP00000363593:Q1553X	Q	-	1	0	SVEP1	112238519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.474000	0.97718	2.744000	0.94065	0.655000	0.94253	CAG		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				21	18	0	0	0	0.010504	0	21	18				
RNF183	138065	broad.mit.edu	37	9	116060189	116060189	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:116060189G>A	ENST00000478815.1	-	1	1856	c.276C>T	c.(274-276)atC>atT	p.I92I	RNF183_ENST00000441031.3_Silent_p.I92I|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000297894.5_Silent_p.I92I|RNF183_ENST00000416588.2_Silent_p.I92I			Q96D59	RN183_HUMAN	ring finger protein 183	92						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						GGCCTTCCAGGATGACATGGT	0.662																																							uc004bgz.2		NA																	0					0						c.(274-276)ATC>ATT		ring finger protein 183							37.0	45.0	42.0					9																	116060189		2124	4251	6375	SO:0001819	synonymous_variant	138065					integral to membrane	zinc ion binding	g.chr9:116060189G>A		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.276C>T	9.37:g.116060189G>A						RNF183_uc004bha.2_Silent_p.I92I	p.I92I	NM_145051	NP_659488	Q96D59	RN183_HUMAN			2	394	-			92						Silent	SNP	ENST00000478815.1	37	c.276C>T	CCDS43866.1																																																																																				0.662	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		26	13	0	0	0	0.005443	0	26	13				
ASTN2	23245	broad.mit.edu	37	9	119903754	119903754	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:119903754G>A	ENST00000313400.4	-	4	1119	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.A340V			O75129	ASTN2_HUMAN	astrotactin 2	340					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCCTCAGCTGCTGCTATAAG	0.587																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1018-1020)GCA>GTA		astrotactin 2 isoform c							51.0	45.0	47.0					9																	119903754		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903754G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1019C>T	9.37:g.119903754G>A	ENSP00000314038:p.Ala340Val					ASTN2_uc004bjr.1_Missense_Mutation_p.A340V|ASTN2_uc004bjt.1_Intron	p.A340V	NM_198187	NP_937830	O75129	ASTN2_HUMAN			4	1120	-			340			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1019C>T		.	.	.	.	.	.	.	.	.	.	G	17.86	3.493607	0.64186	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.12147	2.9;2.9;2.71	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.35595	0.0937	.	.	.	0.49798	D	0.999821	D;P	0.63880	0.993;0.916	D;P	0.65443	0.935;0.631	T	0.04178	-1.0971	8	.	.	.	-11.8768	16.6107	0.84882	0.0:0.0:1.0:0.0	.	340;340	O75129;O75129-3	ASTN2_HUMAN;.	V	340;340;67	ENSP00000314038:A340V;ENSP00000363108:A340V;ENSP00000363098:A67V	.	A	-	2	0	ASTN2	118943575	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.738000	0.74822	2.347000	0.79759	0.557000	0.71058	GCA		0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	9	0	0	0	0.004007	0	16	9				
RABGAP1	23637	broad.mit.edu	37	9	125751575	125751575	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:125751575G>A	ENST00000373647.4	+	5	724		c.e5-1			NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCTCTGAACAGACTCTTAGAT	0.383																																							uc011lzh.1		NA																	0				ovary(3)|kidney(2)	5						c.e5-1		RAB GTPase activating protein 1							95.0	104.0	101.0					9																	125751575		2203	4300	6503	SO:0001630	splice_region_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125751575G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.591-1G>A	9.37:g.125751575G>A						RABGAP1_uc004bnl.3_Splice_Site|RABGAP1_uc004bnm.1_Splice_Site_p.R197_splice	p.R197_splice	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			5	725	+								B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Splice_Site	SNP	ENST00000373647.4	37	c.591_splice	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278799	0.80692	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2731	0.94018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1	124791396	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.422000	0.97458	2.553000	0.86117	0.484000	0.47621	.		0.383	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	Intron	9	36	0	0	0	0.008291	0	9	36				
LHX2	9355	broad.mit.edu	37	9	126794863	126794863	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:126794863C>A	ENST00000373615.4	+	5	1837	c.1098C>A	c.(1096-1098)acC>acA	p.T366T	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	366					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CGCCCACCACCCTGACAGACT	0.647																																							uc004boe.1		NA																	0					0						c.(1096-1098)ACC>ACA		LIM homeobox protein 2							77.0	75.0	76.0					9																	126794863		2203	4300	6503	SO:0001819	synonymous_variant	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794863C>A	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1098C>A	9.37:g.126794863C>A						LHX2_uc010mwi.1_Silent_p.T374T	p.T366T	NM_004789	NP_004780	P50458	LHX2_HUMAN			5	1837	+			366					O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	c.1098C>A	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	7.666	0.685939	0.14973	.	.	ENSG00000106689	ENST00000446480	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57081	-0.7872	4	.	.	.	.	7.7621	0.28959	0.0:0.7449:0.1663:0.0887	.	.	.	.	T	372	.	.	P	+	1	0	LHX2	125834684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.829000	0.27449	2.655000	0.90218	0.655000	0.94253	CCT		0.647	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			13	13	1	0	2.27111e-07	0.001368	2.78718e-07	13	13				
NTNG2	84628	broad.mit.edu	37	9	135102355	135102355	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:135102355G>T	ENST00000393229.3	+	4	1753	c.977G>T	c.(976-978)cGg>cTg	p.R326L	NTNG2_ENST00000393228.4_Missense_Mutation_p.R326L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R326L|NTNG2_ENST00000360670.3_Missense_Mutation_p.R326L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	326	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTCCGCACCCGGTCCTGGCGG	0.667																																							uc004cbh.2		NA																	0					0						c.(976-978)CGG>CTG		netrin G2 precursor							35.0	32.0	33.0					9																	135102355		2203	4298	6501	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102355G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.977G>T	9.37:g.135102355G>T	ENSP00000376921:p.Arg326Leu						p.R326L	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1753	+			326			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.977G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007674	0.54361	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	4.75	4.75	0.60458	EGF-like, laminin (3);	0.319894	0.24652	N	0.036706	T	0.50034	0.1592	L	0.53671	1.685	0.40708	D	0.982547	B	0.06786	0.001	B	0.06405	0.002	T	0.48007	-0.9072	10	0.30854	T	0.27	.	10.3987	0.44216	0.0909:0.0:0.9091:0.0	.	326	Q96CW9	NTNG2_HUMAN	L	326	ENSP00000376921:R326L;ENSP00000376920:R326L;ENSP00000353888:R326L;ENSP00000361252:R326L	ENSP00000353888:R326L	R	+	2	0	NTNG2	134092176	1.000000	0.71417	0.856000	0.33681	0.959000	0.62525	4.203000	0.58453	2.184000	0.69523	0.313000	0.20887	CGG		0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		6	7	1	0	0.00116845	0.001168	0.00125927	6	7				
ADAMTS13	11093	broad.mit.edu	37	9	136324098	136324098	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:136324098C>T	ENST00000371929.3	+	29	4524	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000355699.2_Silent_p.I1304I|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000371910.1_Silent_p.I156I|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.I1273I|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1360	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCTCTCAGATCCGGGACACCC	0.572																																							uc004cdv.3		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(4078-4080)ATC>ATT		ADAM metallopeptidase with thrombospondin type 1							29.0	29.0	29.0					9																	136324098		2203	4299	6502	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324098C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4080C>T	9.37:g.136324098C>T						ADAMTS13_uc004cdp.3_Missense_Mutation_p.P470S|ADAMTS13_uc004cdt.1_Silent_p.I1304I|ADAMTS13_uc004cdu.1_Silent_p.I1273I|ADAMTS13_uc004cdw.3_Silent_p.I1304I|ADAMTS13_uc004cdx.3_Silent_p.I1273I|ADAMTS13_uc004cdz.3_Silent_p.I1030I|ADAMTS13_uc004ceb.3_Silent_p.I156I|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	p.I1360I	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4524	+			1360			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.4080C>T	CCDS6970.1																																																																																				0.572	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		14	10	0	0	0	0.003163	0	14	10				
VAV2	7410	broad.mit.edu	37	9	136656922	136656922	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:136656922T>A	ENST00000371850.3	-	13	1202	c.1171A>T	c.(1171-1173)Agt>Tgt	p.S391C	VAV2_ENST00000371851.1_Missense_Mutation_p.S386C|VAV2_ENST00000406606.3_Missense_Mutation_p.S386C	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	391					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCTATAGAACTCTGAAATTCG	0.463																																							uc004ces.2		NA																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1171-1173)AGT>TGT		vav 2 guanine nucleotide exchange factor isoform							159.0	153.0	155.0					9																	136656922		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136656922T>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1171A>T	9.37:g.136656922T>A	ENSP00000360916:p.Ser391Cys					VAV2_uc004cer.2_Missense_Mutation_p.S386C|VAV2_uc004cet.1_5'Flank	p.S391C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	13	1217	-			391					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1171A>T	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.237950	0.22711	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.69926	-0.44;-0.44;-0.44	4.0	2.8	0.32819	Dbl homology (DH) domain (2);	0.207580	0.52532	N	0.000069	T	0.57110	0.2031	L	0.47716	1.5	0.47476	D	0.999437	B;B	0.19445	0.036;0.01	B;B	0.20767	0.014;0.031	T	0.53215	-0.8470	10	0.54805	T	0.06	.	9.4415	0.38670	0.1647:0.0:0.0:0.8353	.	391;386	P52735;P52735-3	VAV2_HUMAN;.	C	391;386;386;386	ENSP00000360916:S391C;ENSP00000360917:S386C;ENSP00000385362:S386C	ENSP00000317258:S386C	S	-	1	0	VAV2	135646743	1.000000	0.71417	0.992000	0.48379	0.472000	0.32918	3.999000	0.57031	0.472000	0.27344	0.448000	0.29417	AGT		0.463	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			39	24	0	0	0	0.009718	0	39	24				
COL5A1	1289	broad.mit.edu	37	9	137623971	137623971	+	Missense_Mutation	SNP	C	C	T	rs368168386		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:137623971C>T	ENST00000371817.3	+	9	1801	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	463	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATTATCGAGCCGGTGAGGAC	0.582																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1387-1389)CCG>TCG		alpha 1 type V collagen preproprotein							105.0	91.0	96.0					9																	137623971		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623971C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1387C>T	9.37:g.137623971C>T	ENSP00000360882:p.Pro463Ser						p.P463S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	9	1769	+		Myeloproliferative disorder(178;0.0341)	463			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1387C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846359	0.51164	.	.	ENSG00000130635	ENST00000371817	D	0.97665	-4.48	4.53	4.53	0.55603	.	0.000000	0.85682	U	0.000000	D	0.98077	0.9366	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99211	1.0876	10	0.72032	D	0.01	.	16.2528	0.82494	0.0:1.0:0.0:0.0	.	463	P20908	CO5A1_HUMAN	S	463	ENSP00000360882:P463S	ENSP00000360882:P463S	P	+	1	0	COL5A1	136763792	1.000000	0.71417	0.994000	0.49952	0.227000	0.25037	6.921000	0.75805	2.044000	0.60594	0.462000	0.41574	CCG		0.582	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		30	20	0	0	0	0.008361	0	30	20				
C9orf163	158055	broad.mit.edu	37	9	139379174	139379174	+	Missense_Mutation	SNP	G	G	T	rs142971274		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:139379174G>T	ENST00000354376.1	+	1	1228	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	92										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TCCGGCTGACGTGGCACCAGG	0.632																																							uc004chy.2		NA																	0					0						c.(274-276)GTG>TTG		hypothetical protein LOC158055							49.0	50.0	50.0					9																	139379174		2203	4300	6503	SO:0001583	missense	158055						protein binding	g.chr9:139379174G>T	AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.274G>T	9.37:g.139379174G>T	ENSP00000346345:p.Val92Leu					SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	p.V92L	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)	1	1228	+		Myeloproliferative disorder(178;0.0511)	92						Missense_Mutation	SNP	ENST00000354376.1	37	c.274G>T	CCDS7001.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791045	0.16258	.	.	ENSG00000196366	ENST00000354376	T	0.52983	0.64	3.19	3.19	0.36642	.	.	.	.	.	T	0.46405	0.1391	N	0.08118	0	0.23739	N	0.996975	D	0.89917	1.0	D	0.81914	0.995	T	0.34179	-0.9839	9	0.87932	D	0	.	10.1432	0.42747	0.0:0.0:1.0:0.0	.	92	Q8N9P6	CI163_HUMAN	L	92	ENSP00000346345:V92L	ENSP00000346345:V92L	V	+	1	0	C9orf163	138498995	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	1.071000	0.30666	2.104000	0.64026	0.561000	0.74099	GTG		0.632	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254644.1	NM_152571		19	13	1	0	3.5997e-14	0.002299	5.43536e-14	19	13				
ABCA2	20	broad.mit.edu	37	9	139913231	139913231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:139913231C>A	ENST00000371605.3	-	12	1903	c.1756G>T	c.(1756-1758)Gag>Tag	p.E586*	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.E587*|ABCA2_ENST00000265662.5_Nonsense_Mutation_p.E587*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	586					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAATGCTCTCCTCGTCGTGG	0.647																																							uc011mem.1		NA																	0					0						c.(1756-1758)GAG>TAG		ATP-binding cassette, sub-family A, member 2							58.0	65.0	63.0					9																	139913231		2050	4182	6232	SO:0001587	stop_gained	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139913231C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1756G>T	9.37:g.139913231C>A	ENSP00000360666:p.Glu586*					ABCA2_uc011mel.1_Nonsense_Mutation_p.E587*|ABCA2_uc004ckl.1_Nonsense_Mutation_p.E517*|ABCA2_uc004ckm.1_Nonsense_Mutation_p.E617*|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Nonsense_Mutation_p.E363*	p.E586*	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	12	1904	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	586					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Nonsense_Mutation	SNP	ENST00000371605.3	37	c.1756G>T		.	.	.	.	.	.	.	.	.	.	c	39	7.552046	0.98355	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	4.31	4.31	0.51392	.	0.163293	0.40144	U	0.001173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	.	.	.	X	587;586;617;587	.	ENSP00000265662:E587X	E	-	1	0	ABCA2	139033052	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	7.415000	0.80131	1.941000	0.56285	0.486000	0.48141	GAG		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	25	1	0	3.59834e-05	0.001168	4.10182e-05	5	25				
ASMT	438	broad.mit.edu	37	X	1742071	1742071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:1742071C>G	ENST00000381229.4	+	2	145	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V	ASMT_ENST00000381233.3_Missense_Mutation_p.L37V|ASMT_ENST00000381241.3_Missense_Mutation_p.L37V			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	37					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GTTTGACCTTCTCGCCGAGGC	0.637																																							uc004cqd.2		NA																	0				skin(1)	1						c.(109-111)CTC>GTC		acetylserotonin O-methyltransferase							74.0	72.0	73.0					X																	1742071		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1742071C>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.109C>G	X.37:g.1742071C>G	ENSP00000370627:p.Leu37Val					ASMT_uc010ncy.2_Missense_Mutation_p.L37V|ASMT_uc004cqe.2_Missense_Mutation_p.L37V	p.L37V	NM_004043	NP_004034	P46597	HIOM_HUMAN			3	254	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	37					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.109C>G		.	.	.	.	.	.	.	.	.	.	c	12.64	1.998063	0.35226	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.64991	-0.13;-0.13;-0.13	2.2	0.79	0.18613	.	0.000000	0.48767	U	0.000179	T	0.71307	0.3324	M	0.79123	2.44	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57470	-0.7806	10	0.51188	T	0.08	.	2.8215	0.05472	0.0:0.48:0.0:0.52	.	37;37	P46597-2;P46597-3	.;.	V	37	ENSP00000370639:L37V;ENSP00000370627:L37V;ENSP00000370631:L37V	ENSP00000370627:L37V	L	+	1	0	ASMT	1702071	0.925000	0.31364	0.005000	0.12908	0.085000	0.17905	0.278000	0.18753	0.764000	0.33197	0.267000	0.19312	CTC		0.637	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		9	21	0	0	0	0.004482	0	9	21				
ZBED1	9189	broad.mit.edu	37	X	2407570	2407570	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2407570C>A	ENST00000381223.4	-	2	1394	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	ZBED1_ENST00000381222.2_Silent_p.L397L|ZBED1_ENST00000381218.3_Silent_p.L397L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	397					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCTCCACCAGCCCCTCGA	0.632																																							uc004cqg.2		NA																	0					0						c.(1189-1191)CTG>CTT		zinc finger, BED-type containing 1							64.0	59.0	60.0					X																	2407570		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407570C>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1191G>T	X.37:g.2407570C>A						DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.L397L	p.L397L	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	1392	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	397					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1191G>T	CCDS14118.1																																																																																				0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		19	13	1	0	2.4624e-09	0.008871	3.23976e-09	19	13				
XG	7499	broad.mit.edu	37	X	2712644	2712644	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2712644G>T	ENST00000381174.5	+	6	547	c.322G>T	c.(322-324)Gga>Tga	p.G108*	XG_ENST00000426774.1_Splice_Site_p.G109*|XG_ENST00000419513.2_Splice_Site_p.G108*			P55808	XG_HUMAN	Xg blood group	108						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCGCCTGCAGGTAGGTGCCG	0.612																																							uc011mhg.1		NA																	0				ovary(1)	1						c.(322-324)GGA>TGA		XG glycoprotein isoform 1 precursor							29.0	27.0	28.0					X																	2712644		2200	4298	6498	SO:0001630	splice_region_variant	7499					integral to membrane|plasma membrane		g.chrX:2712644G>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.322+1G>T	X.37:g.2712644G>T						XG_uc004cqp.2_Nonsense_Mutation_p.G108*	p.G108*	NM_175569	NP_780778	P55808	XG_HUMAN			6	545	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	108			Extracellular (Potential).		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Nonsense_Mutation	SNP	ENST00000381174.5	37	c.322G>T	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.860355	0.91433	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	.	.	.	2.06	2.06	0.26882	.	1.148210	0.06547	U	0.744296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.0989	0.25325	0.0:0.0:1.0:0.0	.	.	.	.	X	108;108;109;86	.	ENSP00000370566:G108X	G	+	1	0	XG	2722644	0.702000	0.27816	0.116000	0.21606	0.100000	0.18952	0.764000	0.26532	1.359000	0.45940	0.591000	0.81541	GGA		0.612	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569	Nonsense_Mutation	5	10	1	0	3.59834e-05	0.001168	4.10182e-05	5	10				
GYG2	8908	broad.mit.edu	37	X	2773087	2773087	+	Silent	SNP	G	G	A	rs372618531		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2773087G>A	ENST00000381163.3	+	6	753	c.471G>A	c.(469-471)ccG>ccA	p.P157P	GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Silent_p.P126P|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Silent_p.P157P|GYG2_ENST00000542787.1_Silent_p.P157P	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	157					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.P157P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGGCCCCGGACCCCGGAT	0.557																																							uc004cqs.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|kidney(1)	2						c.(469-471)CCG>CCA		glycogenin 2 isoform b		G	,,,,	1,3834		0,1,1631,571	101.0	89.0	93.0		378,378,471,,471	-6.9	0.0	X		93	0,6727		0,0,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-5,coding-synonymous	GYG2	NM_001079855.1,NM_001184702.1,NM_001184703.1,NM_001184704.1,NM_003918.2	,,,,	0,1,4059,2442	AA,AG,GG,G		0.0,0.0261,0.0095	,,,,	126/471,126/470,157/431,,157/502	2773087	1,10561	2203	4299	6502	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2773087G>A	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.471G>A	X.37:g.2773087G>A						GYG2_uc004cqt.1_Silent_p.P126P|GYG2_uc004cqu.1_Silent_p.P126P|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Silent_p.P117P|GYG2_uc004cqx.1_Silent_p.P126P|GYG2_uc010ndc.1_5'UTR	p.P157P	NM_003918	NP_003909	O15488	GLYG2_HUMAN			6	753	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	157					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.471G>A	CCDS14121.1																																																																																				0.557	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		25	57	0	0	0	0.003954	0	25	57				
HCCS	3052	broad.mit.edu	37	X	11132993	11132993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:11132993G>T	ENST00000321143.4	+	3	341	c.139G>T	c.(139-141)Gag>Tag	p.E47*	Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380762.4_Nonsense_Mutation_p.E47*|HCCS_ENST00000380763.3_Nonsense_Mutation_p.E47*	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	47					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCCAACCTGTGAGAAGAAAAC	0.483																																					Ovarian(86;1338 1347 1462 10340 37882)	Ovarian(86;1338 1347 1462 10340 37882)	uc004cuk.2		NA																	0					0						c.(139-141)GAG>TAG		holocytochrome c synthase							127.0	100.0	109.0					X																	11132993		2203	4300	6503	SO:0001587	stop_gained	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11132993G>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.139G>T	X.37:g.11132993G>T	ENSP00000326579:p.Glu47*					HCCS_uc004cuj.2_Nonsense_Mutation_p.E47*|HCCS_uc004cul.1_Nonsense_Mutation_p.E47*	p.E47*	NM_005333	NP_005324	P53701	CCHL_HUMAN			3	405	+			47					B3KUS1|Q502X8	Nonsense_Mutation	SNP	ENST00000321143.4	37	c.139G>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005115	0.74932	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	.	.	.	4.81	3.95	0.45737	.	0.385650	0.30068	N	0.010481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-14.3348	10.4171	0.44329	0.0994:0.0:0.9006:0.0	.	.	.	.	X	47	.	ENSP00000326579:E47X	E	+	1	0	HCCS	11042914	0.999000	0.42202	0.016000	0.15963	0.026000	0.11368	3.871000	0.56077	0.955000	0.37878	0.600000	0.82982	GAG		0.483	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			26	43	1	0	6.32553e-13	0.004656	9.19498e-13	26	43				
ARHGAP6	395	broad.mit.edu	37	X	11207050	11207050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:11207050C>A	ENST00000337414.4	-	4	1747	c.875G>T	c.(874-876)aGg>aTg	p.R292M	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R117M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R89M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R292M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R101M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R324M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R89M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	292					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTATAGGCCCTGTCATTCGC	0.443																																							uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(874-876)AGG>ATG		Rho GTPase activating protein 6 isoform 1							102.0	82.0	88.0					X																	11207050		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11207050C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.875G>T	X.37:g.11207050C>A	ENSP00000338967:p.Arg292Met					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.R292M|ARHGAP6_uc004cum.1_Missense_Mutation_p.R89M|ARHGAP6_uc004cun.1_Missense_Mutation_p.R112M|ARHGAP6_uc010neb.1_Missense_Mutation_p.R114M|ARHGAP6_uc011mif.1_Missense_Mutation_p.R89M	p.R292M	NM_013427	NP_038286	O43182	RHG06_HUMAN			4	1748	-			292					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.875G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808914	0.90707	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.28895	1.65;1.69;1.69;1.59;1.68;1.61;1.81;1.81	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.50627	D	0.000105	T	0.50905	0.1643	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.76494	0.993;0.997;0.998;0.999	D;D;D;D	0.73708	0.914;0.961;0.981;0.979	T	0.51529	-0.8694	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:1.0:0.0:0.0	.	101;89;292;292	B7Z8H7;O43182-5;O43182-2;O43182	.;.;.;RHG06_HUMAN	M	117;89;89;292;128;292;101;324	ENSP00000438135:R117M;ENSP00000370112:R89M;ENSP00000302312:R89M;ENSP00000338967:R292M;ENSP00000370093:R128M;ENSP00000370094:R292M;ENSP00000389394:R101M;ENSP00000370108:R324M	ENSP00000302312:R89M	R	-	2	0	ARHGAP6	11116971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.315000	0.78130	0.600000	0.82982	AGG		0.443	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		18	39	1	0	6.49762e-13	0.006122	9.4072e-13	18	39				
ASB11	140456	broad.mit.edu	37	X	15301747	15301747	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:15301747T>A	ENST00000480796.1	-	7	902	c.852A>T	c.(850-852)ccA>ccT	p.P284P	ASB11_ENST00000380470.3_Silent_p.P267P|ASB11_ENST00000537676.1_Silent_p.P263P|ASB11_ENST00000344384.4_Silent_p.P263P			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	284	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAAGAGCAGGTGGGCCTGAGA	0.517																																							uc004cwp.1		NA																	0				breast(2)|skin(1)	3						c.(850-852)CCA>CCT		ankyrin repeat and SOCS box-containing protein							94.0	80.0	85.0					X																	15301747		2203	4300	6503	SO:0001819	synonymous_variant	140456				intracellular signal transduction			g.chrX:15301747T>A	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.852A>T	X.37:g.15301747T>A						ASB11_uc004cwo.1_Silent_p.P263P|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.P267P	p.P284P	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			7	852	-	Hepatocellular(33;0.183)		284			SOCS box.		E9PEN1|Q3SYC4|Q7Z667	Silent	SNP	ENST00000480796.1	37	c.852A>T	CCDS14164.1																																																																																				0.517	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			20	58	0	0	0	0.010504	0	20	58				
ACE2	59272	broad.mit.edu	37	X	15607532	15607532	+	Missense_Mutation	SNP	C	C	A	rs148771870	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:15607532C>A	ENST00000252519.3	-	5	733	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	ACE2_ENST00000427411.1_Missense_Mutation_p.G211W			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	211					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CCATCTACCCCATTTACTTCA	0.408																																							uc004cxa.1		NA																	0				ovary(3)	3						c.(631-633)GGG>TGG		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						239.0	214.0	222.0					X																	15607532		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15607532C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.631G>T	X.37:g.15607532C>A	ENSP00000252519:p.Gly211Trp					ACE2_uc004cxb.2_Missense_Mutation_p.G211W	p.G211W	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			5	799	-	Hepatocellular(33;0.183)		211			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.631G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755279	0.15846	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.33438	1.41;1.41	5.24	3.43	0.39272	.	0.342121	0.27031	N	0.021279	T	0.30417	0.0764	L	0.58810	1.83	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.17167	-1.0378	10	0.34782	T	0.22	-4.7714	12.9338	0.58303	0.5007:0.4993:0.0:0.0	.	211	Q9BYF1	ACE2_HUMAN	W	211	ENSP00000252519:G211W;ENSP00000389326:G211W	ENSP00000252519:G211W	G	-	1	0	ACE2	15517453	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.456000	0.35201	0.414000	0.25790	0.534000	0.68092	GGG		0.408	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			59	141	1	0	1.77791e-30	0.00361	3.3038e-30	59	141				
RAI2	10742	broad.mit.edu	37	X	17818977	17818977	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:17818977G>C	ENST00000545871.1	-	3	1614	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	RAI2_ENST00000331511.1_Missense_Mutation_p.S385C|RAI2_ENST00000451717.1_Missense_Mutation_p.S385C|RAI2_ENST00000415486.3_Missense_Mutation_p.S335C|RAI2_ENST00000360011.1_Missense_Mutation_p.S385C	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	385					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCAAAAGAAATTTCCAT	0.557																																							uc004cyf.2		NA																	0				ovary(1)|breast(1)	2						c.(1153-1155)TCT>TGT		retinoic acid induced 2							59.0	54.0	56.0					X																	17818977		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818977G>C	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1154C>G	X.37:g.17818977G>C	ENSP00000444210:p.Ser385Cys					RAI2_uc004cyg.2_Missense_Mutation_p.S385C|RAI2_uc010nfa.2_Missense_Mutation_p.S385C|RAI2_uc004cyh.3_Missense_Mutation_p.S385C|RAI2_uc011miy.1_Missense_Mutation_p.S335C	p.S385C	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1724	-	Hepatocellular(33;0.183)		385					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1154C>G	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	g	8.235	0.805632	0.16467	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.29	5.29	0.74685	.	0.406771	0.24583	N	0.037292	T	0.29620	0.0739	N	0.14661	0.345	0.25201	N	0.990053	P;B	0.35481	0.504;0.373	B;B	0.38712	0.28;0.224	T	0.35126	-0.9801	10	0.87932	D	0	-13.9528	18.0634	0.89384	0.0:0.0:1.0:0.0	.	335;385	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	C	385;385;385;385;335	ENSP00000333456:S385C;ENSP00000353106:S385C;ENSP00000444210:S385C;ENSP00000401323:S385C;ENSP00000392578:S335C	ENSP00000333456:S385C	S	-	2	0	RAI2	17728898	1.000000	0.71417	0.902000	0.35471	0.021000	0.10359	6.047000	0.71038	2.457000	0.83068	0.597000	0.82753	TCT		0.557	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		8	49	0	0	0	0.004482	0	8	49				
BEND2	139105	broad.mit.edu	37	X	18221737	18221737	+	Missense_Mutation	SNP	C	C	A	rs374044388		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:18221737C>A	ENST00000380033.4	-	5	923	c.791G>T	c.(790-792)cGa>cTa	p.R264L	BEND2_ENST00000380030.3_Missense_Mutation_p.R264L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	264										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTCTCTTCGTGACAGAAC	0.463																																							uc004cyj.3		NA																	0		p.R264*(1)		ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(790-792)CGA>CTA		BEN domain containing 2							145.0	124.0	131.0					X																	18221737		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18221737C>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.791G>T	X.37:g.18221737C>A	ENSP00000369372:p.Arg264Leu					BEND2_uc010nfb.2_Missense_Mutation_p.R264L	p.R264L	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			5	945	-			264					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.791G>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	c	6.987	0.552284	0.13374	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.27890	1.7;1.64	3.93	-0.949	0.10376	.	3.166820	0.01285	U	0.009860	T	0.17916	0.0430	N	0.14661	0.345	0.09310	N	1	B;B	0.31655	0.334;0.19	B;B	0.24848	0.041;0.056	T	0.14090	-1.0485	10	0.44086	T	0.13	0.829	6.012	0.19582	0.0:0.1192:0.3062:0.5746	.	264;264	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	L	264	ENSP00000369372:R264L;ENSP00000369369:R264L	ENSP00000369369:R264L	R	-	2	0	BEND2	18131658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.256000	0.08757	-0.414000	0.07495	-2.684000	0.00141	CGA		0.463	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		22	61	1	0	0.000229342	0.001882	0.000254002	22	61				
CDKL5	6792	broad.mit.edu	37	X	18646665	18646665	+	Missense_Mutation	SNP	C	C	A	rs587783159		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:18646665C>A	ENST00000379989.3	+	19	2956	c.2671C>A	c.(2671-2673)Cag>Aag	p.Q891K	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q891K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	891					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAACATCCGGCAGGAACCCGC	0.602																																							uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2671-2673)CAG>AAG		cyclin-dependent kinase-like 5							61.0	62.0	62.0					X																	18646665		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646665C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2671C>A	X.37:g.18646665C>A	ENSP00000369325:p.Gln891Lys					CDKL5_uc004cyn.2_Missense_Mutation_p.Q891K	p.Q891K	NM_003159	NP_003150	O76039	CDKL5_HUMAN			18	2924	+	Hepatocellular(33;0.183)		891					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2671C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046864	0.36085	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70631	-0.5;-0.5	5.5	5.5	0.81552	.	0.322088	0.33401	N	0.004946	T	0.61776	0.2374	L	0.27053	0.805	0.35121	D	0.767057	B	0.27791	0.189	B	0.24541	0.054	T	0.69304	-0.5180	10	0.87932	D	0	-18.8857	18.6486	0.91421	0.0:1.0:0.0:0.0	.	891	O76039	CDKL5_HUMAN	K	891	ENSP00000369332:Q891K;ENSP00000369325:Q891K	ENSP00000369325:Q891K	Q	+	1	0	CDKL5	18556586	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	2.877000	0.48506	2.434000	0.82447	0.600000	0.82982	CAG		0.602	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		30	65	1	0	7.01153e-11	0.007291	9.60174e-11	30	65				
MAP3K15	389840	broad.mit.edu	37	X	19392632	19392632	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:19392632G>C	ENST00000338883.4	-	20	2735	c.2736C>G	c.(2734-2736)aaC>aaG	p.N912K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.N347K|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000469203.2_Missense_Mutation_p.N744K|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	912							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTTGCCCTTGTTCACCTGCC	0.577																																							uc004czk.1		NA																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1159-1161)AAC>AAG		mitogen-activated protein kinase kinase kinase							141.0	105.0	117.0					X																	19392632		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19392632G>C	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2736C>G	X.37:g.19392632G>C	ENSP00000345629:p.Asn912Lys					MAP3K15_uc004czj.1_Missense_Mutation_p.N347K|MAP3K15_uc004czi.1_5'Flank	p.N387K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			21	2798	-	Hepatocellular(33;0.183)		912					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1161C>G		.	.	.	.	.	.	.	.	.	.	g	7.172	0.587751	0.13812	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.24723	1.84;1.84;1.84	5.44	2.66	0.31614	Protein kinase-like domain (1);	0.451716	0.28052	N	0.016798	T	0.11067	0.0270	N	0.19112	0.55	0.40754	D	0.982948	B;B	0.33583	0.046;0.418	B;B	0.27500	0.041;0.08	T	0.18053	-1.0349	10	0.07644	T	0.81	.	6.8879	0.24212	0.1473:0.2645:0.5882:0.0	.	387;912	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	K	912;347;744	ENSP00000345629:N912K;ENSP00000352093:N347K;ENSP00000428356:N744K	ENSP00000345629:N912K	N	-	3	2	MAP3K15	19302553	1.000000	0.71417	0.901000	0.35422	0.921000	0.55340	2.081000	0.41596	0.205000	0.20568	-0.171000	0.13296	AAC		0.577	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		15	47	0	0	0	0.003163	0	15	47				
MAP3K15	389840	broad.mit.edu	37	X	19392723	19392723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:19392723C>T	ENST00000338883.4	-	20	2644	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R317Q|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R714Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AATGAAGGCTCGGGCTTCAGC	0.527																																							uc004czk.1		NA																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1069-1071)CGA>CAA		mitogen-activated protein kinase kinase kinase							115.0	96.0	102.0					X																	19392723		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19392723C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2645G>A	X.37:g.19392723C>T	ENSP00000345629:p.Arg882Gln					MAP3K15_uc004czj.1_Missense_Mutation_p.R317Q|MAP3K15_uc004czi.1_5'Flank	p.R357Q	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			21	2707	-	Hepatocellular(33;0.183)		882			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1070G>A		.	.	.	.	.	.	.	.	.	.	C	17.74	3.463953	0.63513	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.64618	-0.11;-0.11;-0.11	5.42	2.67	0.31697	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155271	0.64402	N	0.000009	T	0.53997	0.1831	N	0.24115	0.695	0.39996	D	0.975105	D;D	0.63880	0.967;0.993	B;P	0.52823	0.388;0.71	T	0.50874	-0.8776	10	0.36615	T	0.2	.	8.9967	0.36057	0.0:0.6688:0.0:0.3312	.	357;882	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	882;317;714	ENSP00000345629:R882Q;ENSP00000352093:R317Q;ENSP00000428356:R714Q	ENSP00000345629:R882Q	R	-	2	0	MAP3K15	19302644	0.960000	0.32886	0.797000	0.32132	0.919000	0.55068	0.263000	0.18478	0.591000	0.29711	0.529000	0.55759	CGA		0.527	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		20	33	0	0	0	0.008871	0	20	33				
CNKSR2	22866	broad.mit.edu	37	X	21627666	21627666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:21627666G>T	ENST00000379510.3	+	20	2659	c.2623G>T	c.(2623-2625)Gag>Tag	p.E875*	CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E826*|CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.E845*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E875*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	875	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCAACCCCCagaggtggagga	0.522																																							uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.(2623-2625)GAG>TAG		connector enhancer of kinase suppressor of Ras							39.0	34.0	36.0					X																	21627666		2201	4295	6496	SO:0001587	stop_gained	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627666G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2623G>T	X.37:g.21627666G>T	ENSP00000368824:p.Glu875*					CNKSR2_uc004czw.2_Nonsense_Mutation_p.E875*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.E826*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.E845*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.E467*	p.E875*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2659	+			875			Potential.|Poly-Glu.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_Mutation	SNP	ENST00000379510.3	37	c.2623G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	39	7.292934	0.98192	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.55	5.55	0.83447	.	0.156285	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	0.3389	9.5637	0.39385	0.0978:0.0:0.9022:0.0	.	.	.	.	X	845;826;875;875	.	ENSP00000279451:E875X	E	+	1	0	CNKSR2	21537587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.187000	0.65087	2.444000	0.82710	0.513000	0.50165	GAG		0.522	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		15	27	1	0	1.3612e-06	0.003163	1.62893e-06	15	27				
KLHL34	257240	broad.mit.edu	37	X	21675499	21675499	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:21675499G>C	ENST00000379499.2	-	1	949	c.408C>G	c.(406-408)aaC>aaG	p.N136K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	136	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGCTGCCACGTTGGCGGCGA	0.716																																							uc004czz.1		NA																	0				ovary(1)	1						c.(406-408)AAC>AAG		kelch-like 34							8.0	8.0	8.0					X																	21675499		2157	4179	6336	SO:0001583	missense	257240							g.chrX:21675499G>C	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.408C>G	X.37:g.21675499G>C	ENSP00000368813:p.Asn136Lys						p.N136K	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	950	-			136			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.408C>G	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	5.440	0.266362	0.10294	.	.	ENSG00000185915	ENST00000379499	T	0.67865	-0.29	4.35	0.443	0.16587	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	L	0.45137	1.4	0.44852	D	0.997869	D	0.89917	1.0	D	0.75484	0.986	T	0.62572	-0.6826	10	0.11182	T	0.66	.	9.104	0.36687	0.5812:0.0:0.4188:0.0	.	136	Q8N239	KLH34_HUMAN	K	136	ENSP00000368813:N136K	ENSP00000368813:N136K	N	-	3	2	KLHL34	21585420	0.008000	0.16893	0.893000	0.35052	0.504000	0.33889	-0.411000	0.07142	-0.257000	0.09459	0.422000	0.28245	AAC		0.716	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		2	2	0	0	0	0.004672	0	2	2				
PHEX	5251	broad.mit.edu	37	X	22051130	22051130	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:22051130G>C	ENST00000379374.4	+	1	572	c.7G>C	c.(7-9)Gca>Cca	p.A3P	PHEX_ENST00000537599.1_Missense_Mutation_p.A3P	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	3					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTGATGGAAGCAGAAACAGG	0.542																																							uc004dah.2		NA																	0				ovary(2)|lung(1)	3						c.(7-9)GCA>CCA		phosphate-regulating neutral endopeptidase							192.0	141.0	159.0					X																	22051130		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22051130G>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.7G>C	X.37:g.22051130G>C	ENSP00000368682:p.Ala3Pro					PHEX_uc011mjr.1_Missense_Mutation_p.A3P	p.A3P	NM_000444	NP_000435	P78562	PHEX_HUMAN			1	210	+			3			Cytoplasmic (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.7G>C	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261731	0.39995	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	D;D	0.83673	-1.75;-1.5	5.84	3.13	0.36017	.	0.382752	0.29172	N	0.012922	T	0.67420	0.2891	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57112	-0.7867	10	0.51188	T	0.08	.	7.6674	0.28439	0.1473:0.1301:0.7226:0.0	.	3;3	F5GXU4;P78562	.;PHEX_HUMAN	P	3	ENSP00000368682:A3P;ENSP00000440362:A3P	ENSP00000368682:A3P	A	+	1	0	PHEX	21961051	1.000000	0.71417	0.908000	0.35775	0.994000	0.84299	3.421000	0.52742	0.233000	0.21120	0.594000	0.82650	GCA		0.542	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		20	60	0	0	0	0.008871	0	20	60				
POLA1	5422	broad.mit.edu	37	X	24751887	24751887	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:24751887A>G	ENST00000379059.3	+	17	1784	c.1769A>G	c.(1768-1770)aAg>aGg	p.K590R	POLA1_ENST00000379068.3_Missense_Mutation_p.K596R|POLA1_ENST00000493342.1_3'UTR	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	590					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TCTAAACCAAAGGACTGTATT	0.328																																							uc004dbl.2		NA																	0				ovary(2)|skin(1)	3						c.(1768-1770)AAG>AGG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						44.0	43.0	43.0					X																	24751887		2203	4296	6499	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24751887A>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1769A>G	X.37:g.24751887A>G	ENSP00000368349:p.Lys590Arg					POLA1_uc004dbn.2_Missense_Mutation_p.K454R	p.K590R	NM_016937	NP_058633	P09884	DPOLA_HUMAN			17	1792	+			590					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.1769A>G	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480515	0.26598	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.45668	0.89;0.89	4.81	2.35	0.29111	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.454202	0.24757	N	0.035853	T	0.25717	0.0626	L	0.27053	0.805	0.25449	N	0.988023	B	0.22746	0.074	B	0.29942	0.109	T	0.22556	-1.0213	10	0.16896	T	0.51	-2.96	5.2194	0.15360	0.7089:0.0:0.1561:0.135	.	590	P09884	DPOLA_HUMAN	R	596;590	ENSP00000368358:K596R;ENSP00000368349:K590R	ENSP00000368349:K590R	K	+	2	0	POLA1	24661808	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.110000	0.31147	0.256000	0.21614	0.345000	0.21793	AAG		0.328	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		10	34	0	0	0	0.001368	0	10	34				
DCAF8L2	347442	broad.mit.edu	37	X	27766228	27766229	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:27766228_27766229GG>TT	ENST00000451261.2	+	5	1615_1616	c.1216_1217GG>TT	c.(1216-1218)GGc>TTc	p.G406F		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	406										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGAAAACAATGGCGTGCTCAAG	0.436																																							uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1216-1218)GGC>TTC		DDB1 and CUL4 associated factor 8-like 2																																				SO:0001583	missense	347442							g.chrX:27766228_27766229GG>TT		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		Exception_encountered	X.37:g.27766228_27766229delinsTT	ENSP00000462745:p.Gly406Phe						p.G406F	NM_001136533	NP_001130005					1	1303_1304	+								B2RXH9|J3KT06	Missense_Mutation	DNP	ENST00000451261.2	37	c.1216_1217GG>TT	CCDS59162.1																																																																																				0.436	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		13	24	0	0	0	0.004672	0	13	24				
DCAF8L1	139425	broad.mit.edu	37	X	27998524	27998524	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:27998524C>A	ENST00000441525.1	-	1	1042	c.928G>T	c.(928-930)Gtt>Ttt	p.V310F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTGAACACAACGGCATCTTCA	0.483																																							uc004dbx.1		NA																	0				ovary(3)|skin(1)	4						c.(928-930)GTT>TTT		DDB1 and CUL4 associated factor 8-like 1							85.0	74.0	78.0					X																	27998524		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998524C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.928G>T	X.37:g.27998524C>A	ENSP00000405222:p.Val310Phe						p.V310F	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1043	-			310			WD 3.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.928G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207787	0.58343	.	.	ENSG00000226372	ENST00000441525	T	0.81415	-1.49	0.842	-0.523	0.11924	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.79317	0.4425	M	0.62723	1.935	0.47441	D	0.999423	D	0.54047	0.964	P	0.53102	0.718	T	0.73088	-0.4093	10	0.37606	T	0.19	-11.5024	5.985	0.19430	0.0:0.6748:0.3252:0.0	.	310	A6NGE4	DC8L1_HUMAN	F	310	ENSP00000405222:V310F	ENSP00000405222:V310F	V	-	1	0	DCAF8L1	27908445	0.995000	0.38212	0.302000	0.25058	0.402000	0.30811	4.551000	0.60740	-0.217000	0.10033	0.284000	0.19432	GTT		0.483	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		13	24	1	0	0.00244969	0.00245	0.00261664	13	24				
MAGEB3	4114	broad.mit.edu	37	X	30254298	30254298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30254298C>A	ENST00000361644.2	+	5	994	c.257C>A	c.(256-258)gCc>gAc	p.A86D		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	86										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TACAAGGGAGCCAACAGCAAA	0.448																																							uc004dca.1		NA																	0					0						c.(256-258)GCC>GAC		melanoma antigen family B, 3							36.0	30.0	32.0					X																	30254298		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254298C>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.257C>A	X.37:g.30254298C>A	ENSP00000355198:p.Ala86Asp						p.A86D	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	994	+			86					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.257C>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	C	7.531	0.658624	0.14645	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05258	3.47;3.47	4.1	1.4	0.22301	Melanoma associated antigen, MAGE, N-terminal (1);	0.575306	0.15025	U	0.284773	T	0.06872	0.0175	L	0.55990	1.75	0.09310	N	1	B	0.17852	0.024	B	0.19666	0.026	T	0.31668	-0.9935	10	0.40728	T	0.16	.	5.883	0.18866	0.0:0.6485:0.0:0.3515	.	86	O15480	MAGB3_HUMAN	D	86	ENSP00000368271:A86D;ENSP00000355198:A86D	ENSP00000355198:A86D	A	+	2	0	MAGEB3	30164219	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.837000	0.04377	0.155000	0.19261	-0.176000	0.13171	GCC		0.448	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		9	14	1	0	0.00448238	0.004482	0.0047387	9	14				
MAGEB4	4115	broad.mit.edu	37	X	30260473	30260473	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30260473C>T	ENST00000378982.2	+	1	417	c.221C>T	c.(220-222)gCt>gTt	p.A74V	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	74										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCTGCTGCAGCTATGTCATGC	0.522																																							uc004dcb.2		NA																	0				ovary(1)	1						c.(220-222)GCT>GTT		melanoma antigen family B, 4							54.0	48.0	50.0					X																	30260473		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260473C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.221C>T	X.37:g.30260473C>T	ENSP00000368266:p.Ala74Val					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.A74V	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	305	+			74					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.221C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.707	0.911098	0.17833	.	.	ENSG00000120289	ENST00000378982	T	0.05258	3.47	3.13	-6.26	0.02033	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.07324	0.0185	L	0.46885	1.475	0.09310	N	1	B	0.25206	0.12	B	0.36378	0.223	T	0.36212	-0.9757	9	0.49607	T	0.09	.	7.7492	0.28888	0.2629:0.2605:0.4766:0.0	.	74	O15481	MAGB4_HUMAN	V	74	ENSP00000368266:A74V	ENSP00000368266:A74V	A	+	2	0	MAGEB4	30170394	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.231000	0.01206	-2.781000	0.00360	-1.147000	0.01851	GCT		0.522	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		7	28	0	0	0	0.00308	0	7	28				
TAB3	257397	broad.mit.edu	37	X	30849675	30849675	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30849675T>A	ENST00000378933.1	-	8	2185	c.2008A>T	c.(2008-2010)Aca>Tca	p.T670S	TAB3_ENST00000378932.2_Missense_Mutation_p.T642S|TAB3_ENST00000288422.2_Missense_Mutation_p.T670S|TAB3_ENST00000378930.3_Missense_Mutation_p.T670S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	670					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGACTTTGTGTGGAGCCAGTT	0.458																																					Pancreas(164;1598 1985 29022 43301 49529)	Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NA																	0				ovary(1)	1						c.(2008-2010)ACA>TCA		mitogen-activated protein kinase kinase kinase 7							112.0	79.0	90.0					X																	30849675		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30849675T>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2008A>T	X.37:g.30849675T>A	ENSP00000368215:p.Thr670Ser					TAB3_uc004dck.2_Missense_Mutation_p.T670S|TAB3_uc010ngl.2_Missense_Mutation_p.T642S	p.T670S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			11	2671	-			670					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.2008A>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	6.335	0.429826	0.11987	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.53	5.64	5.64	0.86602	.	0.937107	0.09158	N	0.840549	T	0.53110	0.1776	N	0.08118	0	0.32890	D	0.511744	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.52071	-0.8624	10	0.20046	T	0.44	0.0904	13.4314	0.61057	0.0:0.0:0.0:1.0	.	642;670	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	S	670;670;670;642	ENSP00000368215:T670S;ENSP00000368212:T670S;ENSP00000288422:T670S;ENSP00000368214:T642S	ENSP00000288422:T670S	T	-	1	0	TAB3	30759596	1.000000	0.71417	0.842000	0.33263	0.855000	0.48748	6.595000	0.74109	1.888000	0.54679	0.486000	0.48141	ACA		0.458	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	22	0	0	0	0.004482	0	8	22				
DMD	1756	broad.mit.edu	37	X	31279119	31279119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:31279119G>T	ENST00000357033.4	-	63	9445	c.9239C>A	c.(9238-9240)aCa>aAa	p.T3080K	DMD_ENST00000361471.4_Missense_Mutation_p.T12K|DMD_ENST00000378707.3_Missense_Mutation_p.T620K|DMD_ENST00000378723.3_Missense_Mutation_p.T12K|DMD_ENST00000474231.1_Missense_Mutation_p.T620K|DMD_ENST00000359836.1_Missense_Mutation_p.T620K|DMD_ENST00000378702.4_Missense_Mutation_p.T12K|DMD_ENST00000378677.2_Missense_Mutation_p.T3076K|DMD_ENST00000378680.2_Missense_Mutation_p.T12K|DMD_ENST00000541735.1_Missense_Mutation_p.T620K|DMD_ENST00000343523.2_Missense_Mutation_p.T620K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3080	Interaction with SYNM. {ECO:0000250}.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCAAGTTGTTTGAGTCTC	0.378																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(9238-9240)ACA>AAA		dystrophin Dp427m isoform							128.0	99.0	109.0					X																	31279119		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31279119G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9239C>A	X.37:g.31279119G>T	ENSP00000354923:p.Thr3080Lys					DMD_uc004dcq.1_Missense_Mutation_p.T351K|DMD_uc004dcr.1_Missense_Mutation_p.T620K|DMD_uc004dcs.1_Missense_Mutation_p.T620K|DMD_uc004dct.1_Missense_Mutation_p.T620K|DMD_uc004dcu.1_Missense_Mutation_p.T620K|DMD_uc004dcv.1_Missense_Mutation_p.T620K|DMD_uc004dcw.2_Missense_Mutation_p.T1736K|DMD_uc004dcx.2_Missense_Mutation_p.T1739K|DMD_uc004dcz.2_Missense_Mutation_p.T2957K|DMD_uc004dcy.1_Missense_Mutation_p.T3076K|DMD_uc004ddb.1_Missense_Mutation_p.T3072K|DMD_uc004dcm.1_Missense_Mutation_p.T12K|DMD_uc004dcn.1_Missense_Mutation_p.T12K|DMD_uc004dco.1_Missense_Mutation_p.T12K|DMD_uc004dcp.1_Missense_Mutation_p.T12K|DMD_uc011mkb.1_Missense_Mutation_p.T12K|DMD_uc010ngm.2_Missense_Mutation_p.T12K	p.T3080K	NM_004006	NP_003997	P11532	DMD_HUMAN			63	9483	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3080			Interaction with SYNM (By similarity).|WW.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9239C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.625136|4.625136	0.87560|0.87560	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;D;D;D;D;D;D;D;T;D;T;T	.|0.83075	.|2.27;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;2.25;-1.68;2.25;2.29	5.87|5.87	5.87|5.87	0.94306|0.94306	.|WW/Rsp5/WWP (6);	.|0.000000	.|0.34531	.|U	.|0.003881	D|D	0.90212|0.90212	0.6940|0.6940	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D;D;D;D;D;D;D;P;D;D;B;D	.|0.89917	.|0.963;0.076;0.999;0.999;1.0;1.0;0.998;0.999;0.999;0.999;0.999;0.843;0.978;1.0;0.435;0.963	.|P;B;D;D;P;P;P;D;D;D;P;B;D;D;B;P	.|0.80764	.|0.747;0.037;0.99;0.986;0.869;0.908;0.881;0.937;0.937;0.938;0.897;0.415;0.911;0.994;0.051;0.817	D|D	0.89874|0.89874	0.4025|0.4025	5|10	.|0.51188	.|T	.|0.08	.|.	17.5602|17.5602	0.87903|0.87903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|12;3072;3080;3076;1739;1736;620;620;620;620;620;2957;12;12;12;12	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	K|K	808|3072;1739;1736;12;776;3076;3080;620;620;3080;2957;620;620;12;620;12;12	.|ENSP00000367997:T12K;ENSP00000350765:T776K;ENSP00000367948:T3076K;ENSP00000354923:T3080K;ENSP00000352894:T620K;ENSP00000340057:T620K;ENSP00000367979:T620K;ENSP00000444119:T620K;ENSP00000367974:T12K;ENSP00000417123:T620K;ENSP00000354464:T12K;ENSP00000367951:T12K	.|ENSP00000340057:T620K	N|T	-|-	3|2	2|0	DMD|DMD	31189040|31189040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.325000|8.325000	0.90007|0.90007	2.618000|2.618000	0.88619|0.88619	0.600000|0.600000	0.82982|0.82982	AAC|ACA		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	21	1	0	0.000157383	0.00308	0.000174574	7	21				
DMD	1756	broad.mit.edu	37	X	32366641	32366641	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32366641G>A	ENST00000357033.4	-	38	5536	c.5330C>T	c.(5329-5331)tCc>tTc	p.S1777F	DMD_ENST00000378677.2_Missense_Mutation_p.S1773F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1777	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAAGGAATGGAGGCCTAAAA	0.338																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5329-5331)TCC>TTC		dystrophin Dp427m isoform							56.0	50.0	52.0					X																	32366641		2200	4295	6495	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32366641G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5330C>T	X.37:g.32366641G>A	ENSP00000354923:p.Ser1777Phe					DMD_uc004dcw.2_Missense_Mutation_p.S433F|DMD_uc004dcx.2_Missense_Mutation_p.S436F|DMD_uc004dcz.2_Missense_Mutation_p.S1654F|DMD_uc004dcy.1_Missense_Mutation_p.S1773F|DMD_uc004ddb.1_Missense_Mutation_p.S1769F|DMD_uc010ngo.1_Intron	p.S1777F	NM_004006	NP_003997	P11532	DMD_HUMAN			38	5574	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1777			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5330C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	8.517	0.867881	0.17250	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.60920	0.15;0.15	5.49	5.49	0.81192	.	0.201714	0.24215	U	0.040488	T	0.39937	0.1097	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.12630	0.002;0.006;0.002;0.001;0.001	B;B;B;B;B	0.12156	0.004;0.004;0.007;0.001;0.001	T	0.32188	-0.9916	10	0.38643	T	0.18	.	6.4569	0.21934	0.2446:0.0:0.7554:0.0	.	1769;1777;1773;436;433	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	F	1769;436;433;1773;1777;1777;1654	ENSP00000367948:S1773F;ENSP00000354923:S1777F	ENSP00000354923:S1777F	S	-	2	0	DMD	32276562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.086000	0.64474	2.306000	0.77630	0.462000	0.41574	TCC		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	18	0	0	0	0.001168	0	6	18				
DMD	1756	broad.mit.edu	37	X	32632420	32632420	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32632420C>G	ENST00000357033.4	-	12	1688	c.1482G>C	c.(1480-1482)aaG>aaC	p.K494N	DMD_ENST00000288447.4_Splice_Site_p.K486N|DMD_ENST00000378677.2_Splice_Site_p.K490N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	494					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATACACCTACCTTATGTTGTT	0.398																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1480-1482)AAG>AAC		dystrophin Dp427m isoform							238.0	191.0	207.0					X																	32632420		2202	4300	6502	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32632420C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1482+1G>C	X.37:g.32632420C>G						DMD_uc004dcz.2_Missense_Mutation_p.K371N|DMD_uc004dcy.1_Missense_Mutation_p.K490N|DMD_uc004ddb.1_Missense_Mutation_p.K486N|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.K486N|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	p.K494N	NM_004006	NP_003997	P11532	DMD_HUMAN			12	1726	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	494			Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1482G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779615	0.70107	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.56611	0.45;0.45;1.0	5.62	5.62	0.85841	.	0.000000	0.36409	U	0.002606	T	0.69663	0.3136	L	0.58428	1.81	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.782;0.999	D;D;P;D	0.87578	0.998;0.994;0.603;0.997	T	0.67910	-0.5548	9	.	.	.	.	17.5124	0.87764	0.0:1.0:0.0:0.0	.	486;486;494;490	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	N	486;490;494;494;371;486	ENSP00000367948:K490N;ENSP00000354923:K494N;ENSP00000288447:K486N	.	K	-	3	2	DMD	32542341	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.514000	0.53422	2.493000	0.84123	0.594000	0.82650	AAG		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Missense_Mutation	14	34	0	0	0	0.004007	0	14	34				
DMD	1756	broad.mit.edu	37	X	32717312	32717312	+	Nonsense_Mutation	SNP	C	C	A	rs128626239		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32717312C>A	ENST00000357033.4	-	8	954	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E242*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E246*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	250					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTCCACTTCCTGGATGGCT	0.393																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CM940340	DMD	M	rs128626239	c.(748-750)GAA>TAA		dystrophin Dp427m isoform							220.0	168.0	186.0					X																	32717312		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32717312C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.748G>T	X.37:g.32717312C>A	ENSP00000354923:p.Glu250*					DMD_uc004dcz.2_Nonsense_Mutation_p.E127*|DMD_uc004dcy.1_Nonsense_Mutation_p.E246*|DMD_uc004ddb.1_Nonsense_Mutation_p.E242*|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Nonsense_Mutation_p.E242*|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	p.E250*	NM_004006	NP_003997	P11532	DMD_HUMAN			8	992	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	250					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.748G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	39	7.866483	0.98534	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.58	5.58	0.84498	.	0.000000	0.37577	U	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.568	0.91124	0.0:1.0:0.0:0.0	.	.	.	.	X	242;246;250;250;127;242	.	ENSP00000288447:E242X	E	-	1	0	DMD	32627233	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.336000	0.79245	2.327000	0.79052	0.513000	0.50165	GAA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		22	61	1	0	1.28384e-07	0.001882	1.59183e-07	22	61				
FAM47B	170062	broad.mit.edu	37	X	34961615	34961615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:34961615C>A	ENST00000329357.5	+	1	703	c.667C>A	c.(667-669)Ctc>Atc	p.L223I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	223	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGTGTCCAGTCTCCGCCCAGA	0.662																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(667-669)CTC>ATC		hypothetical protein LOC170062							42.0	44.0	44.0					X																	34961615		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961615C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.667C>A	X.37:g.34961615C>A	ENSP00000328307:p.Leu223Ile						p.L223I	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	685	+			223			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.667C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	5.394	0.257923	0.10239	.	.	ENSG00000189132	ENST00000329357	T	0.20881	2.04	0.235	0.235	0.15431	.	.	.	.	.	T	0.15652	0.0377	L	0.43152	1.355	0.09310	N	0.999997	P	0.38078	0.617	B	0.37144	0.242	T	0.17837	-1.0356	9	0.33141	T	0.24	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	223	Q8NA70	FA47B_HUMAN	I	223	ENSP00000328307:L223I	ENSP00000328307:L223I	L	+	1	0	FAM47B	34871536	0.360000	0.24964	0.028000	0.17463	0.028000	0.11728	-0.500000	0.06405	0.288000	0.22398	0.292000	0.19580	CTC		0.662	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		32	68	1	0	3.90053e-15	0.002445	6.03494e-15	32	68				
FAM47C	442444	broad.mit.edu	37	X	37027912	37027912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:37027912G>T	ENST00000358047.3	+	1	1481	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	477										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCTGCCCGGAGCCTCCAGA	0.617																																							uc004ddl.1		NA																	0				ovary(3)	3						c.(1429-1431)GAG>TAG		hypothetical protein LOC442444							65.0	62.0	63.0					X																	37027912		2202	4300	6502	SO:0001587	stop_gained	442444							g.chrX:37027912G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1429G>T	X.37:g.37027912G>T	ENSP00000367913:p.Glu477*						p.E477*	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1443	+			477					Q6ZU46	Nonsense_Mutation	SNP	ENST00000358047.3	37	c.1429G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	16.86	3.239844	0.58995	.	.	ENSG00000198173	ENST00000358047	.	.	.	1.44	-2.89	0.05665	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	3.6252	0.08111	0.1804:0.0:0.5855:0.2341	.	.	.	.	X	477	.	ENSP00000367913:E477X	E	+	1	0	FAM47C	36937833	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.631000	0.24568	-1.088000	0.03077	-0.396000	0.06452	GAG		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		27	76	1	0	4.59853e-10	0.005443	6.12854e-10	27	76				
ZNF41	7592	broad.mit.edu	37	X	47308861	47308861	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:47308861C>A	ENST00000377065.4	-	5	947	c.308G>T	c.(307-309)gGg>gTg	p.G103V	ZNF41_ENST00000313116.7_Missense_Mutation_p.G103V|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.G113V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	145	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)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGCATTTTCCCAATAGCCTC	0.388																																							uc004dhs.3		NA																	0				ovary(3)	3						c.(433-435)GGG>GTG		zinc finger protein 41							25.0	23.0	24.0					X																	47308861		2202	4298	6500	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308861C>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.308G>T	X.37:g.47308861C>A	ENSP00000366265:p.Gly103Val					ZNF41_uc004dhu.3_Missense_Mutation_p.G137V|ZNF41_uc004dht.3_Missense_Mutation_p.G17V|ZNF41_uc004dhv.3_Missense_Mutation_p.G113V|ZNF41_uc004dhw.3_Missense_Mutation_p.G105V|ZNF41_uc004dhy.3_Missense_Mutation_p.G103V|ZNF41_uc004dhx.3_Missense_Mutation_p.G103V|ZNF41_uc011mlm.1_Missense_Mutation_p.G17V|ZNF41_uc004dhz.2_Intron|ZNF41_uc004dia.2_Intron	p.G145V	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	501	-		all_lung(315;0.000129)	145					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.434G>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	3.659	-0.069916	0.07228	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.06933	3.24;3.24;3.25;5.9	3.1	1.21	0.21127	.	0.978918	0.08295	N	0.967811	T	0.13927	0.0337	L	0.35341	1.055	0.09310	N	1	B;B;D;B;B	0.76494	0.006;0.006;0.999;0.01;0.006	B;B;D;B;B	0.70016	0.007;0.007;0.967;0.007;0.003	T	0.33803	-0.9854	10	0.16896	T	0.51	.	5.511	0.16880	0.1935:0.6801:0.0:0.1263	.	103;105;113;137;145	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	V	103;103;113;113	ENSP00000315173:G103V;ENSP00000366265:G103V;ENSP00000380243:G113V;ENSP00000390385:G113V	ENSP00000315173:G103V	G	-	2	0	ZNF41	47193805	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	0.019000	0.13444	-0.066000	0.12998	-0.923000	0.02734	GGG		0.388	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		6	13	1	0	8.12818e-05	0.001984	9.09297e-05	6	13				
ZNF81	347344	broad.mit.edu	37	X	47755298	47755298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:47755298C>A	ENST00000376954.1	+	5	604	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF81_ENST00000338637.7_Missense_Mutation_p.P79Q			P51508	ZNF81_HUMAN	zinc finger protein 81	79	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)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGAGAGGGGCCATGGACATTG	0.493																																							uc010nhy.1		NA																	0					0						c.(235-237)CCA>CAA		zinc finger protein 81							72.0	72.0	72.0					X																	47755298		2203	4300	6503	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47755298C>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.236C>A	X.37:g.47755298C>A	ENSP00000366153:p.Pro79Gln						p.P79Q	NM_007137	NP_009068	P51508	ZNF81_HUMAN			5	604	+		all_lung(315;0.0973)	79			KRAB.		Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.236C>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710637	0.48517	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000376950;ENST00000399918	T;T;T	0.57436	0.4;0.4;0.4	4.06	4.06	0.47325	Krueppel-associated box (2);	0.171197	0.28510	N	0.015092	T	0.58935	0.2157	M	0.91561	3.22	0.24296	N	0.995143	P	0.36733	0.567	B	0.34991	0.193	T	0.62978	-0.6739	10	0.66056	D	0.02	.	10.7959	0.46459	0.0:1.0:0.0:0.0	.	79	P51508	ZNF81_HUMAN	Q	79	ENSP00000366153:P79Q;ENSP00000341151:P79Q;ENSP00000366149:P79Q	ENSP00000341151:P79Q	P	+	2	0	ZNF81	47640242	0.210000	0.23517	0.824000	0.32777	0.420000	0.31355	2.009000	0.40903	2.014000	0.59158	0.594000	0.82650	CCA		0.493	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		7	16	1	0	1.67772e-17	0.000978	2.72748e-17	7	16				
TIMM17B	10245	broad.mit.edu	37	X	48754135	48754135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48754135C>T	ENST00000376582.3	-	3	181	c.33G>A	c.(31-33)tgG>tgA	p.W11*	TIMM17B_ENST00000465150.2_Nonsense_Mutation_p.W11*|PQBP1_ENST00000247140.4_5'Flank|PQBP1_ENST00000396763.1_5'Flank|PQBP1_ENST00000376548.5_5'Flank|PQBP1_ENST00000447146.2_5'Flank|PQBP1_ENST00000376563.1_5'Flank|TIMM17B_ENST00000495490.2_5'UTR|TIMM17B_ENST00000396779.3_Nonsense_Mutation_p.W11*|PQBP1_ENST00000218224.4_5'Flank|TIMM17B_ENST00000472645.1_5'UTR|PQBP1_ENST00000376566.4_5'Flank	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	11					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCACAATTCGCCATGGGCTGC	0.557																																							uc004dlc.1		NA																	0				ovary(1)	1						c.(31-33)TGG>TGA		translocase of inner mitochondrial membrane 17							79.0	59.0	66.0					X																	48754135		2203	4300	6503	SO:0001587	stop_gained	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48754135C>T	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.33G>A	X.37:g.48754135C>T	ENSP00000365766:p.Trp11*					PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|PQBP1_uc004dlh.2_5'Flank|PQBP1_uc004dli.2_5'Flank|PQBP1_uc004dlj.1_5'Flank|PQBP1_uc004dln.2_5'Flank|PQBP1_uc010nih.2_5'Flank|PQBP1_uc010nii.2_5'Flank|PQBP1_uc004dlk.2_5'Flank|PQBP1_uc004dll.2_5'Flank|PQBP1_uc004dlm.2_5'Flank|PQBP1_uc010nij.2_5'Flank|TIMM17B_uc004dla.1_Nonsense_Mutation_p.W11*|TIMM17B_uc004dlb.1_5'UTR	p.W11*	NM_005834	NP_005825	O60830	TI17B_HUMAN			3	182	-			11					A8K2E2|J3KPV3|Q9UJV0	Nonsense_Mutation	SNP	ENST00000376582.3	37	c.33G>A	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	C	39	7.360546	0.98235	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.046	17.2781	0.87122	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000365766:W11X	W	-	3	0	TIMM17B	48639079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.431000	0.80335	2.347000	0.79759	0.540000	0.68198	TGG		0.557	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		11	37	0	0	0	0.001368	0	11	37				
PIM2	11040	broad.mit.edu	37	X	48772330	48772330	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48772330G>C	ENST00000376509.4	-	4	751	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCATGAAGCAGGGCACCAGAA	0.488																																							uc004dls.2		NA																	0				lung(3)|stomach(1)	4						c.(562-564)CTG>GTG		serine/threonine protein kinase pim-2							66.0	52.0	57.0					X																	48772330		2203	4300	6503	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772330G>C	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.562C>G	X.37:g.48772330G>C	ENSP00000365692:p.Leu188Val						p.L188V	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			4	864	-			188			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.562C>G	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365011	0.24684	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.65732	-0.17;-0.17	5.82	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224044	0.31484	N	0.007579	T	0.41143	0.1146	N	0.11870	0.19	0.31468	N	0.668721	B	0.15930	0.015	B	0.17098	0.017	T	0.41197	-0.9522	10	0.36615	T	0.2	.	8.4123	0.32651	0.0865:0.1547:0.7588:0.0	.	188	Q9P1W9	PIM2_HUMAN	V	188;76	ENSP00000365692:L188V;ENSP00000410960:L76V	ENSP00000365692:L188V	L	-	1	2	PIM2	48657274	0.628000	0.27138	1.000000	0.80357	0.940000	0.58332	-0.110000	0.10824	2.458000	0.83093	0.600000	0.82982	CTG		0.488	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			7	38	0	0	0	0.001984	0	7	38				
CCDC120	90060	broad.mit.edu	37	X	48923039	48923039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48923039G>T	ENST00000376396.3	+	8	956	c.737G>T	c.(736-738)tGg>tTg	p.W246L	CCDC120_ENST00000597275.1_Missense_Mutation_p.W246L|CCDC120_ENST00000536628.2_Missense_Mutation_p.W234L|CCDC120_ENST00000422185.2_Missense_Mutation_p.W246L|CCDC120_ENST00000603986.1_Missense_Mutation_p.W281L|CCDC120_ENST00000496529.2_Missense_Mutation_p.W246L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	246										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCAAGGCTTGGGACCAGCTG	0.617																																							uc010nik.2		NA																	0				pancreas(1)	1						c.(736-738)TGG>TTG		coiled-coil domain containing 120 isoform 3							16.0	15.0	15.0					X																	48923039		2202	4299	6501	SO:0001583	missense	90060						protein binding	g.chrX:48923039G>T	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.737G>T	X.37:g.48923039G>T	ENSP00000365577:p.Trp246Leu					CCDC120_uc011mmq.1_Missense_Mutation_p.W234L|CCDC120_uc004dmf.2_Missense_Mutation_p.W246L|CCDC120_uc010nil.2_Missense_Mutation_p.W246L|CCDC120_uc011mmr.1_Missense_Mutation_p.W246L|CCDC120_uc011mms.1_Missense_Mutation_p.W234L	p.W246L	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			8	1244	+			246					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.737G>T	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767231	0.31320	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.02	5.02	0.67125	.	0.302450	0.30556	N	0.009375	T	0.20088	0.0483	N	0.02225	-0.63	0.38253	D	0.94166	P;B;B;B	0.39480	0.675;0.276;0.276;0.276	B;B;B;B	0.33960	0.173;0.083;0.083;0.121	T	0.24404	-1.0161	9	0.11485	T	0.65	-8.4867	14.5811	0.68292	0.0:0.0:1.0:0.0	.	234;281;234;246	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	L	246;246;234	.	ENSP00000365577:W246L	W	+	2	0	CCDC120	48809983	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.589000	0.61006	2.227000	0.72691	0.436000	0.28706	TGG		0.617	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		10	26	1	0	2.17888e-05	0.006214	2.49757e-05	10	26				
MAGIX	79917	broad.mit.edu	37	X	49022561	49022561	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:49022561C>A	ENST00000412696.2	+	6	828	c.828C>A	c.(826-828)gcC>gcA	p.A276A	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Silent_p.A200A|MAGIX_ENST00000376338.3_Silent_p.A217A|MAGIX_ENST00000376339.1_Silent_p.A212A	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	276																	CAGAGGCGGCCGCCGATGGCC	0.692																																							uc010nin.1		NA																	0					0						c.(826-828)GCC>GCA		MAGI family member, X-linked isoform a							9.0	13.0	11.0					X																	49022561		1843	4017	5860	SO:0001819	synonymous_variant	79917							g.chrX:49022561C>A	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.828C>A	X.37:g.49022561C>A						MAGIX_uc010nio.1_Silent_p.A200A|MAGIX_uc004dmt.2_Silent_p.A195A|MAGIX_uc004dmu.2_Silent_p.A217A|MAGIX_uc004dmw.2_Silent_p.A204A	p.A276A	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			6	875	+			276					A6XND4|A8MSX9|B7WP26|Q14C81	Silent	SNP	ENST00000412696.2	37	c.828C>A	CCDS48106.1																																																																																				0.692	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		7	17	1	0	0.00307968	0.00308	0.003275	7	17				
PRICKLE3	4007	broad.mit.edu	37	X	49033386	49033386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:49033386G>T	ENST00000376317.3	-	8	1215	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A306D|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A293D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	374				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGGCCCTGGAGCTGTGGGCTC	0.677																																							uc004dmy.1		NA																	0				breast(1)	1						c.(1120-1122)GCT>GAT		LIM domain only 6							16.0	14.0	15.0					X																	49033386		2200	4293	6493	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49033386G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1121C>A	X.37:g.49033386G>T	ENSP00000365494:p.Ala374Asp					PRICKLE3_uc011mmv.1_Missense_Mutation_p.A306D|PRICKLE3_uc011mmw.1_Missense_Mutation_p.A293D|PRICKLE3_uc011mmx.1_Missense_Mutation_p.A336D	p.A374D	NM_006150	NP_006141	O43900	PRIC3_HUMAN			8	1147	-			374	Missing (in Ref. 5; AAB92357).				B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1121C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.784|9.784	1.176097|1.176097	0.21704|0.21704	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849|ENST00000453382	T;T;T|.	0.69685|.	-0.4;-0.42;-0.41|.	3.93|3.93	0.00546|0.00546	0.14063|0.14063	.|.	1.148760|.	0.06724|.	N|.	0.775388|.	T|T	0.17916|0.17916	0.0430|0.0430	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.11329|.	0.006;0.004;0.003|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|5	0.39692|.	T|.	0.17|.	-2.4765|-2.4765	0.7224|0.7224	0.00943|0.00943	0.2306:0.1852:0.3912:0.193|0.2306:0.1852:0.3912:0.193	.|.	336;293;374|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	D|R	374;293;306|386	ENSP00000365494:A374D;ENSP00000441385:A293D;ENSP00000446051:A306D|.	ENSP00000365494:A374D|.	A|S	-|-	2|3	0|2	PRICKLE3|PRICKLE3	48920330|48920330	0.990000|0.990000	0.36364|0.36364	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	4.420000|4.420000	0.59841|0.59841	-0.127000|-0.127000	0.11661|0.11661	0.425000|0.425000	0.28330|0.28330	GCT|AGC		0.677	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		9	23	1	0	0.000274275	0.004482	0.000300993	9	23				
CCNB3	85417	broad.mit.edu	37	X	50051956	50051956	+	Missense_Mutation	SNP	A	A	T	rs142543110		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:50051956A>T	ENST00000376042.1	+	6	1085	c.787A>T	c.(787-789)Atg>Ttg	p.M263L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263L			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTCCTTCTTTATGGAGTCAAT	0.413																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(787-789)ATG>TTG		cyclin B3 isoform 3							74.0	66.0	69.0					X																	50051956		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051956A>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.787A>T	X.37:g.50051956A>T	ENSP00000365210:p.Met263Leu					CCNB3_uc004doy.2_Missense_Mutation_p.M263L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.M263L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1085	+	Ovarian(276;0.236)		263					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.787A>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296193	0.23650	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35789	1.29;1.29	3.52	-0.277	0.12898	.	59.875800	0.00166	N	0.000000	T	0.32041	0.0816	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06881	-1.0802	9	.	.	.	.	3.0137	0.06052	0.5108:0.2271:0.2621:0.0	.	263	Q8WWL7	CCNB3_HUMAN	L	263	ENSP00000365210:M263L;ENSP00000276014:M263L	.	M	+	1	0	CCNB3	50068696	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.424000	0.21330	-0.150000	0.11195	-0.386000	0.06593	ATG		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			27	75	0	0	0	0.003954	0	27	75				
CCNB3	85417	broad.mit.edu	37	X	50051958	50051958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:50051958G>T	ENST00000376042.1	+	6	1087	c.789G>T	c.(787-789)atG>atT	p.M263I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263I			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTCTTTATGGAGTCAATGA	0.413																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(787-789)ATG>ATT		cyclin B3 isoform 3							74.0	66.0	69.0					X																	50051958		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051958G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.789G>T	X.37:g.50051958G>T	ENSP00000365210:p.Met263Ile					CCNB3_uc004doy.2_Missense_Mutation_p.M263I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.M263I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1087	+	Ovarian(276;0.236)		263					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.789G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377557	0.24944	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35236	1.32;1.32	3.52	2.65	0.31530	.	59.875800	0.00166	N	0.000000	T	0.34395	0.0896	L	0.53249	1.67	0.09310	N	1	B	0.30439	0.279	B	0.24701	0.055	T	0.16600	-1.0397	9	.	.	.	.	5.6573	0.17650	0.1503:0.0:0.8497:0.0	.	263	Q8WWL7	CCNB3_HUMAN	I	263	ENSP00000365210:M263I;ENSP00000276014:M263I	.	M	+	3	0	CCNB3	50068698	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.602000	0.24134	0.855000	0.35359	0.594000	0.82650	ATG		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			23	71	1	0	3.8784e-16	0.001882	6.12558e-16	23	71				
CXorf67	340602	broad.mit.edu	37	X	51150613	51150614	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:51150613_51150614CG>AA	ENST00000342995.2	+	1	847_848	c.745_746CG>AA	c.(745-747)CGc>AAc	p.R249N				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	249										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTTTCCACACCGCGCCACTCAT	0.678																																							uc004dpj.2		NA																	0					NA						c.(745-747)CGC>AAC		hypothetical protein LOC340602																																				SO:0001583	missense	0							g.chrX:51150613_51150614CG>AA	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	Exception_encountered	X.37:g.51150613_51150614delinsAA	ENSP00000342680:p.Arg249Asn						p.R249N	NM_203407	NP_981952					1	847_848	+									Missense_Mutation	DNP	ENST00000342995.2	37	c.745_746CG>AA																																																																																					0.678	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		3	13	0	0	0	0.004672	0	3	13				
IQSEC2	23096	broad.mit.edu	37	X	53284096	53284096	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:53284096C>T	ENST00000375368.5	-	3	1187	c.987G>A	c.(985-987)agG>agA	p.R329R	IQSEC2_ENST00000375365.2_Silent_p.R134R|IQSEC2_ENST00000396435.3_Silent_p.R339R			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	329					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCCATACTTCCTCTCCAGCA	0.592																																							uc004dsd.2		NA																	0				ovary(3)	3						c.(1015-1017)AGG>AGA		IQ motif and Sec7 domain 2 isoform1							25.0	24.0	25.0					X																	53284096		2203	4298	6501	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53284096C>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.987G>A	X.37:g.53284096C>T						IQSEC2_uc004dsc.2_Silent_p.R134R	p.R339R	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			4	1218	-			329					B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.1017G>A																																																																																					0.592	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		8	11	0	0	0	0.004482	0	8	11				
WNK3	65267	broad.mit.edu	37	X	54334508	54334508	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54334508A>G	ENST00000375159.2	-	4	935	c.936T>C	c.(934-936)acT>acC	p.T312T	WNK3_ENST00000354646.2_Silent_p.T312T|WNK3_ENST00000375169.3_Silent_p.T312T			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAAACTCAGGAGTTCCTACAA	0.388																																							uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(934-936)ACT>ACC		WNK lysine deficient protein kinase 3 isoform 2							112.0	92.0	99.0					X																	54334508		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54334508A>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.936T>C	X.37:g.54334508A>G						WNK3_uc004dtc.1_Silent_p.T312T	p.T312T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			5	1375	-			312			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.936T>C	CCDS14357.1																																																																																				0.388	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		11	26	0	0	0	0.001368	0	11	26				
WNK3	65267	broad.mit.edu	37	X	54337693	54337693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54337693C>A	ENST00000375159.2	-	2	568	c.569G>T	c.(568-570)aGa>aTa	p.R190I	WNK3_ENST00000354646.2_Missense_Mutation_p.R190I|WNK3_ENST00000375169.3_Missense_Mutation_p.R190I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCCTTGAATCTTTGCTGCTC	0.358																																							uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(568-570)AGA>ATA		WNK lysine deficient protein kinase 3 isoform 2							105.0	94.0	98.0					X																	54337693		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54337693C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.569G>T	X.37:g.54337693C>A	ENSP00000364301:p.Arg190Ile					WNK3_uc004dtc.1_Missense_Mutation_p.R190I	p.R190I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			3	1008	-			190			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.569G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979704	0.92982	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.65549	-0.16;-0.16;-0.16	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.71592	0.3358	L	0.33753	1.03	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.91635	0.996;0.999	T	0.74677	-0.3585	10	0.72032	D	0.01	-8.8097	17.1065	0.86665	0.0:1.0:0.0:0.0	.	190;190	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	190	ENSP00000364312:R190I;ENSP00000346667:R190I;ENSP00000364301:R190I	ENSP00000346667:R190I	R	-	2	0	WNK3	54354418	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.730000	0.84881	2.391000	0.81399	0.594000	0.82650	AGA		0.358	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		10	32	1	0	2.27111e-07	0.001368	2.78718e-07	10	32				
GNL3L	54552	broad.mit.edu	37	X	54574706	54574706	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54574706G>T	ENST00000336470.4	+	9	814	c.675G>T	c.(673-675)ctG>ctT	p.L225L	GNL3L_ENST00000360845.2_Silent_p.L225L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	225	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGTCACTGCTGAAAAGCAAAG	0.493																																							uc004dth.1		NA																	0				ovary(1)	1						c.(673-675)CTG>CTT		guanine nucleotide binding protein-like 3							102.0	84.0	90.0					X																	54574706		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54574706G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.675G>T	X.37:g.54574706G>T						GNL3L_uc004dti.2_RNA	p.L225L	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			9	814	+			225						Silent	SNP	ENST00000336470.4	37	c.675G>T	CCDS14360.1																																																																																				0.493	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		15	27	1	0	0.000422831	0.004007	0.000463668	15	27				
APEX2	27301	broad.mit.edu	37	X	55033666	55033666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55033666G>T	ENST00000374987.3	+	6	1421	c.1355G>T	c.(1354-1356)cGg>cTg	p.R452L	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	452					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGGAGTTACGGACCTCATTC	0.587								Other BER factors																															uc004dtz.2		NA																	0				breast(1)	1						c.(1354-1356)CGG>CTG	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							55.0	41.0	46.0					X																	55033666		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033666G>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1355G>T	X.37:g.55033666G>T	ENSP00000364126:p.Arg452Leu					APEX2_uc011mom.1_Missense_Mutation_p.R281L	p.R452L	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	1431	+			452					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.1355G>T	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	G	6.277	0.419176	0.11870	.	.	ENSG00000169188	ENST00000374987	T	0.60920	0.15	4.67	-8.96	0.00761	.	0.983178	0.08359	N	0.958010	T	0.43809	0.1264	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22138	-1.0225	10	0.19147	T	0.46	-0.1055	12.115	0.53860	0.7378:0.0:0.1735:0.0887	.	452	Q9UBZ4	APEX2_HUMAN	L	452	ENSP00000364126:R452L	ENSP00000364126:R452L	R	+	2	0	APEX2	55050391	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.228000	0.09114	-2.547000	0.00482	-0.503000	0.04515	CGG		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			9	26	1	0	0.00448238	0.004482	0.0047387	9	26				
PAGE5	90737	broad.mit.edu	37	X	55248250	55248250	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55248250T>C	ENST00000289619.5	+	3	437	c.192T>C	c.(190-192)gaT>gaC	p.D64D	PAGE5_ENST00000374952.1_Silent_p.D44D|PAGE5_ENST00000374955.3_Silent_p.D44D	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CACCAACTGATAATCAGGGTA	0.453																																							uc004duj.2		NA																	0					0						c.(190-192)GAT>GAC		P antigen family, member 5 isoform 1							110.0	77.0	88.0					X																	55248250		2203	4299	6502	SO:0001819	synonymous_variant	90737							g.chrX:55248250T>C	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.192T>C	X.37:g.55248250T>C						PAGE5_uc004duk.2_Silent_p.D44D	p.D64D	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			3	434	+			64					Q2NL97|Q5JUL0|Q8WWL9	Silent	SNP	ENST00000289619.5	37	c.192T>C	CCDS14368.1																																																																																				0.453	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467		8	14	0	0	0	0.001368	0	8	14				
RRAGB	10325	broad.mit.edu	37	X	55744767	55744767	+	Missense_Mutation	SNP	G	G	A	rs369357317		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55744767G>A	ENST00000262850.7	+	1	450	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	RRAGB_ENST00000374941.4_Missense_Mutation_p.E3K	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CGCAATGGAAGAATCTGACTC	0.463											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004dup.2		NA																	0					0						c.(7-9)GAA>AAA		Ras-related GTP binding B long isoform		G	LYS/GLU,LYS/GLU	1,3834		0,0,1,1632,570	73.0	68.0	69.0		7,7	3.3	1.0	X		69	0,6728		0,0,0,2428,1872	no	missense,missense	RRAGB	NM_016656.3,NM_006064.4	56,56	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign,benign	3/375,3/347	55744767	1,10562	2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55744767G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.7G>A	X.37:g.55744767G>A	ENSP00000262850:p.Glu3Lys		OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	RRAGB_uc004duq.2_Missense_Mutation_p.E3K	p.E3K	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			1	658	+			3						Missense_Mutation	SNP	ENST00000262850.7	37	c.7G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205413	0.58234	2.61E-4	0.0	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.65732	-0.17	4.16	3.3	0.37823	.	0.809286	0.10764	N	0.636767	T	0.44871	0.1314	N	0.19112	0.55	0.30550	N	0.76557	B;B	0.28636	0.218;0.139	B;B	0.27796	0.083;0.038	T	0.46830	-0.9163	10	0.45353	T	0.12	-1.0525	6.9753	0.24672	0.1246:0.0:0.8754:0.0	.	3;3	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	K	3	ENSP00000364077:E3K	ENSP00000262850:E3K	E	+	1	0	RRAGB	55761492	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.113000	0.41902	1.122000	0.41944	0.600000	0.82982	GAA		0.463	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		4	14	0	0	0	0.000602	0	4	14				
AMER1	139285	broad.mit.edu	37	X	63411982	63411982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:63411982C>A	ENST00000330258.3	-	2	1457	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	AMER1_ENST00000403336.1_Missense_Mutation_p.E395D|AMER1_ENST00000374869.3_Missense_Mutation_p.E395D	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	395	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ccttaacctcctcttcttcct	0.502																																							uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1183-1185)GAG>GAT		family with sequence similarity 123B							196.0	192.0	193.0					X																	63411982		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411982C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1185G>T	X.37:g.63411982C>A	ENSP00000329117:p.Glu395Asp						p.E395D	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1458	-			395			Glu-rich.		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1185G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	2.018	-0.425398	0.04701	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.10382	2.88;2.88;2.88	4.56	-1.29	0.09288	.	0.250759	0.39615	N	0.001317	T	0.05318	0.0141	N	0.22421	0.69	0.26352	N	0.977183	B	0.12630	0.006	B	0.14023	0.01	T	0.33497	-0.9866	10	0.25751	T	0.34	-6.4226	4.8243	0.13408	0.1474:0.3738:0.0:0.4788	.	395	Q5JTC6	F123B_HUMAN	D	395	ENSP00000364003:E395D;ENSP00000329117:E395D;ENSP00000384722:E395D	ENSP00000329117:E395D	E	-	3	2	FAM123B	63328707	0.002000	0.14202	0.920000	0.36463	0.872000	0.50106	-0.716000	0.04991	-0.289000	0.09038	-0.237000	0.12165	GAG		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		18	32	1	0	4.75885e-15	0.00499	7.33932e-15	18	32				
LAS1L	81887	broad.mit.edu	37	X	64738059	64738059	+	Missense_Mutation	SNP	C	C	A	rs200862250		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:64738059C>A	ENST00000374811.3	-	12	1775	c.1735G>T	c.(1735-1737)Gta>Tta	p.V579L	LAS1L_ENST00000374807.5_Missense_Mutation_p.V562L|LAS1L_ENST00000374804.5_Missense_Mutation_p.V520L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	579					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						tcctcctcTACCTGGTCTGGC	0.507																																							uc004dwa.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1735-1737)GTA>TTA		LAS1-like							153.0	121.0	132.0					X																	64738059		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64738059C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1735G>T	X.37:g.64738059C>A	ENSP00000363944:p.Val579Leu					LAS1L_uc004dwc.1_Missense_Mutation_p.V562L|LAS1L_uc004dwd.1_Missense_Mutation_p.V520L|LAS1L_uc004dvy.1_Missense_Mutation_p.V92L|LAS1L_uc004dvz.1_Missense_Mutation_p.V92L	p.V579L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			12	1807	-			579					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1735G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.596341	0.00857	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	3.5	-1.55	0.08558	.	1.365610	0.05354	N	0.532457	T	0.27278	0.0669	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.16396	0.017;0.017;0.01;0.009	B;B;B;B	0.10450	0.005;0.005;0.002;0.004	T	0.19484	-1.0304	9	0.24483	T	0.36	.	7.4881	0.27445	0.0:0.4395:0.0:0.5605	.	520;562;579;92	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	L	562;579;520	.	ENSP00000363937:V520L	V	-	1	0	LAS1L	64654784	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.350000	0.07721	-0.679000	0.05217	0.544000	0.68410	GTA		0.507	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		26	49	1	0	3.73148e-12	0.007291	5.32751e-12	26	49				
AR	367	broad.mit.edu	37	X	66941747	66941747	+	Nonsense_Mutation	SNP	G	G	A	rs137852565		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:66941747G>A	ENST00000374690.3	+	6	2915	c.2391G>A	c.(2389-2391)tgG>tgA	p.W797*	AR_ENST00000396043.2_Nonsense_Mutation_p.W265*|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	796	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGTTTGGATGGCTCCAAATCA	0.527									Androgen Insensitivity Syndrome																														uc004dwu.1		NA																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	GRCh37	CM900027	AR	M	rs137852565	c.(2389-2391)TGG>TGA		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						124.0	94.0	104.0					X																	66941747		2203	4300	6503	SO:0001587	stop_gained	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66941747G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2391G>A	X.37:g.66941747G>A	ENSP00000363822:p.Trp797*					AR_uc004dwv.1_Nonsense_Mutation_p.W265*	p.W797*	NM_000044	NP_000035	P10275	ANDR_HUMAN			6	3506	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	796			Ligand-binding.|Interaction with MYST2.		A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	37	c.2391G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	36	5.652340	0.96724	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.75	4.75	0.60458	.	0.062767	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0239	0.64573	0.0:0.0:1.0:0.0	.	.	.	.	X	607;797;265	.	ENSP00000363822:W797X	W	+	3	0	AR	66858472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.455000	0.73497	2.178000	0.69098	0.594000	0.82650	TGG		0.527	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		16	29	0	0	0	0.00499	0	16	29				
STARD8	9754	broad.mit.edu	37	X	67940832	67940832	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:67940832T>A	ENST00000252336.6	+	8	2248	c.1876T>A	c.(1876-1878)Tcg>Acg	p.S626T	STARD8_ENST00000374597.3_Missense_Mutation_p.S626T|STARD8_ENST00000374599.3_Missense_Mutation_p.S706T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	626	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAATGAGACCTCGCCTGACAA	0.562																																							uc004dxa.2		NA																	0				breast(3)|ovary(2)|pancreas(1)	6						c.(1876-1878)TCG>ACG		StAR-related lipid transfer (START) domain							112.0	84.0	93.0					X																	67940832		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940832T>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1876T>A	X.37:g.67940832T>A	ENSP00000252336:p.Ser626Thr					STARD8_uc004dxb.2_Missense_Mutation_p.S706T|STARD8_uc004dxc.3_Missense_Mutation_p.S626T	p.S626T	NM_014725	NP_055540	Q92502	STAR8_HUMAN			8	2248	+			626			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1876T>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426477	0.25726	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.22336	1.96;1.96;1.96	3.8	2.6	0.31112	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.256446	0.31427	N	0.007673	T	0.13670	0.0331	L	0.31526	0.94	0.09310	N	0.999995	B;B	0.16166	0.015;0.016	B;B	0.26416	0.026;0.069	T	0.30119	-0.9989	10	0.20519	T	0.43	.	7.1311	0.25502	0.203:0.0:0.0:0.797	.	706;626	Q92502-2;Q92502	.;STAR8_HUMAN	T	626;706;626	ENSP00000252336:S626T;ENSP00000363727:S706T;ENSP00000363725:S626T	ENSP00000252336:S626T	S	+	1	0	STARD8	67857557	0.017000	0.18338	0.573000	0.28510	0.975000	0.68041	1.100000	0.31025	0.462000	0.27095	0.486000	0.48141	TCG		0.562	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		12	36	0	0	0	0.001368	0	12	36				
AWAT1	158833	broad.mit.edu	37	X	69455968	69455968	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:69455968C>A	ENST00000374521.3	+	3	275	c.234C>A	c.(232-234)atC>atA	p.I78I	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	78					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGACCCACATCAGGGACTATT	0.502																																							uc004dxy.2		NA																	0				ovary(3)	3						c.(232-234)ATC>ATA		wax synthase 1							167.0	137.0	147.0					X																	69455968		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69455968C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.234C>A	X.37:g.69455968C>A							p.I78I	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			3	275	+			78					Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.234C>A	CCDS35321.1																																																																																				0.502	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		14	26	1	0	5.01169e-05	0.00499	5.67258e-05	14	26				
TEX11	56159	broad.mit.edu	37	X	69849524	69849524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:69849524A>T	ENST00000395889.2	-	19	1745	c.1590T>A	c.(1588-1590)gaT>gaA	p.D530E	TEX11_ENST00000374320.2_Missense_Mutation_p.D205E|TEX11_ENST00000344304.3_Missense_Mutation_p.D530E|TEX11_ENST00000374333.2_Missense_Mutation_p.D515E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	530					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAACTAGATCATTATCTT	0.328																																							uc004dyl.2		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(1588-1590)GAT>GAA		testis expressed sequence 11 isoform 1							139.0	125.0	130.0					X																	69849524		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69849524A>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1590T>A	X.37:g.69849524A>T	ENSP00000379226:p.Asp530Glu					TEX11_uc004dyk.2_Missense_Mutation_p.D205E|TEX11_uc004dym.2_Missense_Mutation_p.D515E	p.D530E	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			19	1752	-	Renal(35;0.156)		530					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1590T>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	A	0.114	-1.134636	0.01742	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.43688	1.54;1.54;0.94;1.54	3.77	-7.55	0.01327	.	1.055500	0.07313	N	0.876273	T	0.13286	0.0322	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.16129	-1.0413	9	.	.	.	3.5694	0.759	0.01004	0.2833:0.3233:0.1694:0.224	.	515;530	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	E	515;530;205;530	ENSP00000363453:D515E;ENSP00000379226:D530E;ENSP00000363440:D205E;ENSP00000340995:D530E	.	D	-	3	2	TEX11	69766249	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.045000	0.01410	-2.494000	0.00514	-0.403000	0.06358	GAT		0.328	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			17	46	0	0	0	0.004007	0	17	46				
SLC7A3	84889	broad.mit.edu	37	X	70146814	70146814	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70146814T>G	ENST00000374299.3	-	9	1508	c.1364A>C	c.(1363-1365)aAg>aCg	p.K455T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K455T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	455					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TAGGGTCAACTTCTCTGATTC	0.478																																							uc004dyn.2		NA																	0				ovary(1)|kidney(1)	2						c.(1363-1365)AAG>ACG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						126.0	116.0	120.0					X																	70146814		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70146814T>G	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1364A>C	X.37:g.70146814T>G	ENSP00000363417:p.Lys455Thr					SLC7A3_uc004dyo.2_Missense_Mutation_p.K455T	p.K455T	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			9	1522	-	Renal(35;0.156)		455			Cytoplasmic (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1364A>C	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	1.078	-0.667977	0.03428	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88124	-2.34;-2.34	5.23	1.13	0.20643	.	.	.	.	.	T	0.78310	0.4263	L	0.35854	1.095	0.09310	N	0.999998	B	0.12013	0.005	B	0.18263	0.021	T	0.60662	-0.7219	9	0.20519	T	0.43	.	7.2001	0.25877	0.0:0.0833:0.3824:0.5343	.	455	Q8WY07	CTR3_HUMAN	T	455	ENSP00000363417:K455T;ENSP00000298085:K455T	ENSP00000298085:K455T	K	-	2	0	SLC7A3	70063539	0.001000	0.12720	0.869000	0.34112	0.224000	0.24922	-0.366000	0.07563	0.266000	0.21894	0.430000	0.28490	AAG		0.478	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		8	45	0	0	0	0.00308	0	8	45				
IL2RG	3561	broad.mit.edu	37	X	70327653	70327653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70327653G>T	ENST00000374202.2	-	8	1134	c.1043C>A	c.(1042-1044)gCc>gAc	p.A348D	IL2RG_ENST00000456850.2_Missense_Mutation_p.A158D|IL2RG_ENST00000374188.3_Missense_Mutation_p.A77D|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	348					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCATGGGGAGGCCCCAGGCCC	0.602									Severe Combined Immunodeficiency, X-linked																														uc004dyw.1		NA																	0				pancreas(1)	1						c.(1042-1044)GCC>GAC		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						31.0	30.0	30.0					X																	70327653		2202	4297	6499	SO:0001583	missense	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327653G>T	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1043C>A	X.37:g.70327653G>T	ENSP00000363318:p.Ala348Asp					CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.A77D|IL2RG_uc004dyx.1_Missense_Mutation_p.A158D	p.A348D	NM_000206	NP_000197	P31785	IL2RG_HUMAN			8	1057	-	Renal(35;0.156)		348			Cytoplasmic (Potential).		Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.1043C>A	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	g	9.091	1.001652	0.19121	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.97870	-3.82;-4.58;-1.78	4.22	1.26	0.21427	.	2.191760	0.02314	N	0.072370	D	0.92123	0.7503	N	0.08118	0	0.19945	N	0.999942	B;B;B	0.29432	0.0;0.244;0.0	B;B;B	0.24155	0.001;0.051;0.0	D	0.87560	0.2471	10	0.59425	D	0.04	-9.6197	2.1377	0.03766	0.1909:0.4903:0.1994:0.1194	.	158;348;77	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	D	348;158;77	ENSP00000363318:A348D;ENSP00000388967:A158D;ENSP00000363303:A77D	ENSP00000363303:A77D	A	-	2	0	IL2RG	70244378	0.993000	0.37304	0.995000	0.50966	0.261000	0.26267	1.024000	0.30077	0.290000	0.22444	0.287000	0.19450	GCC		0.602	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			12	16	1	0	7.03913e-09	0.001368	9.16103e-09	12	16				
ZMYM3	9203	broad.mit.edu	37	X	70466306	70466306	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70466306G>A	ENST00000353904.2	-	15	2656	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	ZMYM3_ENST00000373998.1_Silent_p.P811P|ZMYM3_ENST00000373984.3_Silent_p.P825P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.P825P|ZMYM3_ENST00000314425.5_Silent_p.P823P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	823					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTGTTGCTGGGGGTGGTGGGG	0.572																																							uc004dzh.1		NA																	0				ovary(1)	1						c.(2467-2469)CCC>CCT		zinc finger protein 261							17.0	14.0	15.0					X																	70466306		2202	4296	6498	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466306G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2469C>T	X.37:g.70466306G>A						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P823P|ZMYM3_uc004dzj.1_Silent_p.P811P	p.P823P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			15	2556	-	Renal(35;0.156)		823					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.2469C>T	CCDS14409.1																																																																																				0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	5	0	0	0	0.009096	0	4	5				
ACRC	93953	broad.mit.edu	37	X	70824130	70824130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70824130C>A	ENST00000373695.1	+	7	1540	c.1003C>A	c.(1003-1005)Cct>Act	p.P335T	ACRC_ENST00000373696.3_Missense_Mutation_p.P335T			Q96QF7	ACRC_HUMAN	acidic repeat containing	335						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTGGAAGTTCCTGTGCCAGC	0.473																																							uc004eae.2		NA																	0				ovary(3)	3						c.(1003-1005)CCT>ACT		ACRC protein							160.0	131.0	141.0					X																	70824130		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824130C>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1003C>A	X.37:g.70824130C>A	ENSP00000362799:p.Pro335Thr					BCYRN1_uc011mpt.1_Intron	p.P335T	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1504	+	Renal(35;0.156)		335					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1003C>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048149	0.19827	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.57595	0.39;0.39	2.77	1.9	0.25705	.	.	.	.	.	T	0.45074	0.1324	N	0.24115	0.695	0.09310	N	1	P	0.51791	0.948	P	0.51229	0.663	T	0.25363	-1.0134	9	0.54805	T	0.06	.	7.2953	0.26389	0.0:0.8547:0.0:0.1453	.	335	Q96QF7	ACRC_HUMAN	T	335	ENSP00000362800:P335T;ENSP00000362799:P335T	ENSP00000362799:P335T	P	+	1	0	ACRC	70740855	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-0.016000	0.12613	0.590000	0.29694	0.513000	0.50165	CCT		0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			29	58	1	0	4.87955e-14	0.005443	7.3295e-14	29	58				
NHSL2	340527	broad.mit.edu	37	X	71360053	71360053	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:71360053C>G	ENST00000373677.1	+	2	2819	c.1557C>G	c.(1555-1557)gtC>gtG	p.V519V	NHSL2_ENST00000540800.1_Silent_p.V885V|NHSL2_ENST00000510661.1_Silent_p.V654V|NHSL2_ENST00000535692.1_Silent_p.V519V			Q5HYW2	NHSL2_HUMAN	NHS-like 2	519										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAAGCTTGGTCCACAAGCCAC	0.552																																							uc011mqa.1		NA																	0					0						c.(2653-2655)GTC>GTG		NHS-like 2							79.0	61.0	67.0					X																	71360053		2203	4300	6503	SO:0001819	synonymous_variant	340527							g.chrX:71360053C>G			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1557C>G	X.37:g.71360053C>G						NHSL2_uc004eak.1_Silent_p.V519V|NHSL2_uc010nli.2_Silent_p.V654V	p.V885V	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2655	+	Renal(35;0.156)		885					B2RN94	Silent	SNP	ENST00000373677.1	37	c.2655C>G																																																																																					0.552	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		8	33	0	0	0	0.004482	0	8	33				
Unknown	0	broad.mit.edu	37	X	71379738	71379738	+	IGR	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:71379738C>G								BX119917.1 (7474 upstream) : PIN4 (21787 downstream)																							GAGATGTTCTCTGACAGTTAC	0.512																																							uc004eal.1		NA																	0				lung(1)	1						c.(58-60)TCT>TGT		hypothetical protein LOC392490							74.0	67.0	70.0					X																	71379738		2188	4289	6477	SO:0001628	intergenic_variant	392490							g.chrX:71379738C>G																													X.37:g.71379738C>G							p.S20C	NM_207422	NP_997305	Q56UQ5	TPT1L_HUMAN			2	407	+	Renal(35;0.156)		20						Missense_Mutation	SNP		37	c.59C>G																																																																																				0	0.512									13	25	0	0	0	0.001855	0	13	25				
NAP1L2	4674	broad.mit.edu	37	X	72433876	72433876	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:72433876T>A	ENST00000373517.3	-	1	808	c.453A>T	c.(451-453)agA>agT	p.R151S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGATCTGACGTCTTTTTTCCA	0.378																																							uc004ebi.2		NA																	0				lung(1)	1						c.(451-453)AGA>AGT		nucleosome assembly protein 1-like 2							179.0	170.0	173.0					X																	72433876		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433876T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.453A>T	X.37:g.72433876T>A	ENSP00000362616:p.Arg151Ser					NAP1L2_uc011mqj.1_Missense_Mutation_p.R9S	p.R151S	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	809	-	Renal(35;0.156)		151					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.453A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	16.91	3.252683	0.59212	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.40756	1.02;1.02	3.11	1.95	0.26073	.	0.000000	0.85682	U	0.000000	T	0.66723	0.2818	M	0.93594	3.435	0.37045	D	0.897304	D	0.62365	0.991	D	0.76071	0.987	T	0.69687	-0.5078	10	0.87932	D	0	-5.1211	5.7256	0.18010	0.0:0.1424:0.0:0.8576	.	151	Q9ULW6	NP1L2_HUMAN	S	151;9	ENSP00000362616:R151S;ENSP00000441555:R9S	ENSP00000362616:R151S	R	-	3	2	NAP1L2	72350601	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.905000	0.69893	0.448000	0.26722	0.486000	0.48141	AGA		0.378	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		37	77	0	0	0	0.003755	0	37	77				
SLC16A2	6567	broad.mit.edu	37	X	73744385	73744385	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:73744385A>C	ENST00000587091.1	+	3	944	c.767A>C	c.(766-768)aAg>aCg	p.K256T	SLC16A2_ENST00000276033.5_Missense_Mutation_p.K330T	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	256					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTGGGGGATAAGATCAAGCTG	0.547																																							uc004ebt.2		NA																	0				breast(2)|ovary(1)	3						c.(988-990)AAG>ACG		solute carrier family 16, member 2	Pyruvic acid(DB00119)						127.0	87.0	100.0					X																	73744385		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73744385A>C		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.767A>C	X.37:g.73744385A>C	ENSP00000465734:p.Lys256Thr					SLC16A2_uc010nlr.1_Missense_Mutation_p.K5T	p.K330T	NM_006517	NP_006508	P36021	MOT8_HUMAN			3	1155	+			256			Extracellular (Potential).		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.989A>C	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482728	0.26598	.	.	ENSG00000147100	ENST00000276033	T	0.57107	0.42	5.61	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);	0.384692	0.29126	N	0.013069	T	0.36303	0.0962	L	0.31752	0.955	0.26856	N	0.968054	B	0.19445	0.036	B	0.20577	0.03	T	0.21552	-1.0242	10	0.23302	T	0.38	.	6.9709	0.24648	0.6291:0.2853:0.0855:0.0	.	256	P36021	MOT8_HUMAN	T	330	ENSP00000276033:K330T	ENSP00000276033:K330T	K	+	2	0	SLC16A2	73661110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.323000	0.52014	0.715000	0.32103	0.483000	0.47432	AAG		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			4	21	0	0	0	0.009096	0	4	21				
ATRX	546	broad.mit.edu	37	X	76938718	76938718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:76938718G>T	ENST00000373344.5	-	9	2244	c.2030C>A	c.(2029-2031)tCa>tAa	p.S677*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S639*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	677					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCATCTGAATTAGATGT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2029-2031)TCA>TAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						133.0	133.0	133.0					X																	76938718		2203	4293	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938718G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2030C>A	X.37:g.76938718G>T	ENSP00000362441:p.Ser677*					ATRX_uc004ecq.3_Nonsense_Mutation_p.S639*|ATRX_uc004eco.3_Nonsense_Mutation_p.S462*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S609*|ATRX_uc010nlx.1_Nonsense_Mutation_p.S648*|ATRX_uc010nly.1_Nonsense_Mutation_p.S622*	p.S677*	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2262	-			677					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2030C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	40	8.512278	0.98843	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2883	18.3858	0.90466	0.0:0.0:1.0:0.0	.	.	.	.	X	677;639;604	.	ENSP00000362441:S677X	S	-	2	0	ATRX	76825374	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.937000	0.92936	2.282000	0.76494	0.513000	0.50165	TCA		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		50	125	1	0	1.30916e-28	0.00361	2.42338e-28	50	125				
ITM2A	9452	broad.mit.edu	37	X	78622626	78622626	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:78622626G>A	ENST00000373298.2	-	1	230	c.87C>T	c.(85-87)gtC>gtT	p.V29V	ITM2A_ENST00000434584.2_Silent_p.V29V|ITM2A_ENST00000469541.1_5'Flank	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	29						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGAGTTCTGACCGTGCGGC	0.582																																							uc004edh.2		NA																	0				lung(2)	2						c.(85-87)GTC>GTT		integral membrane protein 2A							38.0	29.0	32.0					X																	78622626		2203	4300	6503	SO:0001819	synonymous_variant	9452					integral to membrane	protein binding	g.chrX:78622626G>A	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.87C>T	X.37:g.78622626G>A						ITM2A_uc011mqr.1_Silent_p.V29V	p.V29V	NM_004867	NP_004858	O43736	ITM2A_HUMAN			1	422	-			29					B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	c.87C>T	CCDS14444.1																																																																																				0.582	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		3	9	0	0	0	0.004672	0	3	9				
CHM	1121	broad.mit.edu	37	X	85128136	85128136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:85128136C>A	ENST00000357749.2	-	14	1720	c.1691G>T	c.(1690-1692)tGt>tTt	p.C564F	CHM_ENST00000537751.1_Missense_Mutation_p.C416F|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	564					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCATTATAACAGCTCCTGCT	0.368																																							uc004eet.2		NA																	0				ovary(1)	1						c.(1690-1692)TGT>TTT		choroideremia isoform a							89.0	77.0	81.0					X																	85128136		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85128136C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1691G>T	X.37:g.85128136C>A	ENSP00000350386:p.Cys564Phe					CHM_uc011mqz.1_Missense_Mutation_p.C416F	p.C564F	NM_000390	NP_000381	P24386	RAE1_HUMAN			14	1721	-		all_lung(315;5.41e-06)	564					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1691G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393494	0.25205	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.58652	0.32;0.32	5.03	4.17	0.49024	.	0.319686	0.33854	N	0.004494	T	0.44829	0.1312	L	0.40543	1.245	0.41963	D	0.99071	B	0.23442	0.085	B	0.21151	0.033	T	0.28459	-1.0043	10	0.10111	T	0.7	-2.113	12.8084	0.57626	0.0:0.2519:0.7481:0.0	.	564	P24386	RAE1_HUMAN	F	564;416	ENSP00000350386:C564F;ENSP00000441728:C416F	ENSP00000350386:C564F	C	-	2	0	CHM	85014792	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	3.105000	0.50314	1.022000	0.39626	0.594000	0.82650	TGT		0.368	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		7	26	1	0	0.000442599	0.006214	0.000483873	7	26				
CPXCR1	53336	broad.mit.edu	37	X	88008425	88008425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:88008425C>A	ENST00000276127.4	+	3	269	c.10C>A	c.(10-12)Cct>Act	p.P4T	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P4T	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	4							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GATGAGTTATCCTACTAAAGA	0.353																																							uc004efd.3		NA																	0				ovary(3)	3						c.(10-12)CCT>ACT		CPX chromosome region, candidate 1							19.0	17.0	18.0					X																	88008425		2199	4295	6494	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008425C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.10C>A	X.37:g.88008425C>A	ENSP00000276127:p.Pro4Thr					CPXCR1_uc004efc.3_Missense_Mutation_p.P4T	p.P4T	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	269	+			4					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.10C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834102	0.32421	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.35973	1.28;1.28	3.28	1.45	0.22620	.	0.780907	0.10582	N	0.657859	T	0.23611	0.0571	N	0.24115	0.695	0.19945	N	0.999941	P	0.45126	0.851	B	0.44224	0.444	T	0.09357	-1.0678	9	.	.	.	.	3.2104	0.06680	0.2609:0.5915:0.0:0.1476	.	4	Q8N123	CPXCR_HUMAN	T	4	ENSP00000276127:P4T;ENSP00000362203:P4T	.	P	+	1	0	CPXCR1	87895081	0.672000	0.27530	0.540000	0.28089	0.856000	0.48823	0.140000	0.16056	0.255000	0.21593	0.594000	0.82650	CCT		0.353	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		3	9	1	0	0.00909568	0.009096	0.00949057	3	9				
PCDH11X	27328	broad.mit.edu	37	X	91090514	91090514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91090514T>A	ENST00000373094.1	+	1	856	c.11T>A	c.(10-12)tTg>tAg	p.L4*	PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.L4*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	4					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGGACTTGTTGTCCGGGACG	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(10-12)TTG>TAG		protocadherin 11 X-linked isoform c							125.0	105.0	112.0					X																	91090514		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090514T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.11T>A	X.37:g.91090514T>A	ENSP00000362186:p.Leu4*					PCDH11X_uc004efl.1_Nonsense_Mutation_p.L4*|PCDH11X_uc004efo.1_Nonsense_Mutation_p.L4*|PCDH11X_uc010nmv.1_Nonsense_Mutation_p.L4*|PCDH11X_uc004efm.1_Nonsense_Mutation_p.L4*|PCDH11X_uc004efn.1_Nonsense_Mutation_p.L4*|PCDH11X_uc004efh.1_Nonsense_Mutation_p.L4*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.L4*	p.L4*	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	856	+			4					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.11T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	34	5.357525	0.95854	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.46	3.19	0.36642	.	0.421256	0.22214	N	0.063051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2661	0.37641	0.1624:0.0:0.0:0.8376	.	.	.	.	X	4	.	ENSP00000298274:L4X	L	+	2	0	PCDH11X	90977170	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	3.404000	0.52623	1.555000	0.49500	0.339000	0.21740	TTG		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		33	41	0	0	0	0.009535	0	33	41				
PCDH11X	27328	broad.mit.edu	37	X	91090671	91090671	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91090671C>A	ENST00000373094.1	+	1	1013	c.168C>A	c.(166-168)tcC>tcA	p.S56S	PCDH11X_ENST00000373088.1_Silent_p.S56S|PCDH11X_ENST00000373097.1_Silent_p.S56S|PCDH11X_ENST00000298274.8_Silent_p.S56S|PCDH11X_ENST00000361724.1_Silent_p.S56S|PCDH11X_ENST00000361655.2_Silent_p.S56S|PCDH11X_ENST00000406881.1_Silent_p.S56S|PCDH11X_ENST00000504220.2_Silent_p.S56S|PCDH11X_ENST00000395337.2_Silent_p.S56S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAACAAGTCCTTGACAACTG	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(166-168)TCC>TCA		protocadherin 11 X-linked isoform c							193.0	146.0	162.0					X																	91090671		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090671C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.168C>A	X.37:g.91090671C>A						PCDH11X_uc004efl.1_Silent_p.S56S|PCDH11X_uc004efo.1_Silent_p.S56S|PCDH11X_uc010nmv.1_Silent_p.S56S|PCDH11X_uc004efm.1_Silent_p.S56S|PCDH11X_uc004efn.1_Silent_p.S56S|PCDH11X_uc004efh.1_Silent_p.S56S|PCDH11X_uc004efj.1_Silent_p.S56S	p.S56S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1013	+			56			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.168C>A	CCDS14461.1																																																																																				0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		26	47	1	0	3.28513e-13	0.003954	4.81418e-13	26	47				
PCDH11X	27328	broad.mit.edu	37	X	91131909	91131909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91131909G>C	ENST00000373094.1	+	2	1515	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	PCDH11X_ENST00000373088.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G224R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G224R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTTGAAGATGGTGGCTTTCC	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(670-672)GGT>CGT		protocadherin 11 X-linked isoform c							245.0	214.0	225.0					X																	91131909		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131909G>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.670G>C	X.37:g.91131909G>C	ENSP00000362186:p.Gly224Arg					PCDH11X_uc004efl.1_Missense_Mutation_p.G224R|PCDH11X_uc004efo.1_Missense_Mutation_p.G224R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G224R|PCDH11X_uc004efm.1_Missense_Mutation_p.G224R|PCDH11X_uc004efn.1_Missense_Mutation_p.G224R|PCDH11X_uc004efh.1_Missense_Mutation_p.G224R|PCDH11X_uc004efj.1_Missense_Mutation_p.G224R	p.G224R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1515	+			224			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.670G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138022	0.77775	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.48	4.48	0.54585	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.58969	1.84	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.969;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.924;1.0;1.0;1.0;1.0;1.0;1.0	T	0.69580	-0.5107	10	0.87932	D	0	.	15.341	0.74296	0.0:0.0:1.0:0.0	.	224;224;224;224;224;224;224;224	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	224	ENSP00000378746:G224R;ENSP00000362186:G224R;ENSP00000362189:G224R;ENSP00000355040:G224R;ENSP00000362180:G224R;ENSP00000423762:G224R;ENSP00000355105:G224R;ENSP00000384758:G224R;ENSP00000298274:G224R	ENSP00000298274:G224R	G	+	1	0	PCDH11X	91018565	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.507000	0.97996	1.800000	0.52685	0.544000	0.68410	GGT		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		40	118	0	0	0	0.00874	0	40	118				
DIAPH2	1730	broad.mit.edu	37	X	95993694	95993694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:95993694C>T	ENST00000324765.8	+	3	622	c.275C>T	c.(274-276)cCa>cTa	p.P92L	DIAPH2_ENST00000373061.3_Missense_Mutation_p.P92L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P81L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	92					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCTCAGCCATTATATGAT	0.318																																							uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(274-276)CCA>CTA		diaphanous 2 isoform 156							81.0	74.0	77.0					X																	95993694		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:95993694C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.275C>T	X.37:g.95993694C>T	ENSP00000321348:p.Pro92Leu					DIAPH2_uc004eft.3_Missense_Mutation_p.P92L|DIAPH2_uc004efs.2_Missense_Mutation_p.P92L	p.P92L	NM_006729	NP_006720	O60879	DIAP2_HUMAN			3	671	+			92					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.275C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463070	0.43736	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.81163	-1.46;-1.46;-1.41;-1.41;-1.46	5.53	4.66	0.58398	.	0.458520	0.21842	N	0.068317	T	0.67496	0.2899	L	0.34521	1.04	0.35194	D	0.773694	P;B;P	0.39831	0.481;0.11;0.69	B;B;B	0.34590	0.186;0.077;0.164	T	0.72161	-0.4374	10	0.39692	T	0.17	.	8.1656	0.31224	0.1563:0.7614:0.0:0.0823	.	92;92;92	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	92;81;92;92;92;92	ENSP00000362152:P92L;ENSP00000362145:P81L;ENSP00000348082:P92L;ENSP00000362140:P92L;ENSP00000321348:P92L	ENSP00000321348:P92L	P	+	2	0	DIAPH2	95880350	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.420000	0.59841	1.095000	0.41419	0.544000	0.68410	CCA		0.318	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		14	46	0	0	0	0.001855	0	14	46				
PCDH19	57526	broad.mit.edu	37	X	99662048	99662048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:99662048G>T	ENST00000373034.4	-	1	3223	c.1548C>A	c.(1546-1548)taC>taA	p.Y516*	PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y516*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y516*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCGCAGCGCGTAGATGTCGC	0.582																																							uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1546-1548)TAC>TAA		protocadherin 19 isoform b							101.0	102.0	102.0					X																	99662048		2174	4261	6435	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662048G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1548C>A	X.37:g.99662048G>T	ENSP00000362125:p.Tyr516*					PCDH19_uc004efw.3_Nonsense_Mutation_p.Y516*|PCDH19_uc004efx.3_Nonsense_Mutation_p.Y516*	p.Y516*	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3224	-			516			Cadherin 5.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.1548C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756757	0.89843	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.81	-8.69	0.00855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5196	0.95180	0.8153:0.0:0.1847:0.0	.	.	.	.	X	516	.	ENSP00000255531:Y516X	Y	-	3	2	PCDH19	99548704	0.436000	0.25586	0.043000	0.18650	0.807000	0.45602	-0.083000	0.11286	-2.588000	0.00458	-0.322000	0.08575	TAC		0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		22	64	1	0	2.32416e-17	0.002299	3.75721e-17	22	64				
TNMD	64102	broad.mit.edu	37	X	99849302	99849302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:99849302C>A	ENST00000373031.4	+	4	583	c.366C>A	c.(364-366)atC>atA	p.I122I	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	122	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AATGTTTTATCAAAACTCAGA	0.338																																							uc004efy.3		NA																	0				central_nervous_system(1)	1						c.(364-366)ATC>ATA		tenomodulin							101.0	90.0	94.0					X																	99849302		2202	4300	6502	SO:0001819	synonymous_variant	64102					integral to membrane		g.chrX:99849302C>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.366C>A	X.37:g.99849302C>A						TNMD_uc004efz.2_Silent_p.I122I	p.I122I	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			4	592	+			122			Extracellular (Potential).|BRICHOS.		Q9HBX0|Q9UJG0	Silent	SNP	ENST00000373031.4	37	c.366C>A	CCDS14469.1																																																																																				0.338	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		18	23	1	0	1.22574e-08	0.002299	1.58379e-08	18	23				
CSTF2	1478	broad.mit.edu	37	X	100078976	100078976	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:100078976G>T	ENST00000372972.2	+	5	562	c.546G>T	c.(544-546)gtG>gtT	p.V182V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Silent_p.V182V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	182	Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGAGAATTGTGGATCCGGAAA	0.463																																							uc004egh.2		NA																	0				skin(1)	1						c.(544-546)GTG>GTT		cleavage stimulation factor subunit 2							184.0	157.0	166.0					X																	100078976		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100078976G>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.546G>T	X.37:g.100078976G>T						CSTF2_uc010nnd.2_Silent_p.V182V|CSTF2_uc004egi.2_Silent_p.V182V	p.V182V	NM_001325	NP_001316	P33240	CSTF2_HUMAN			5	604	+			182			Interactions with CSTF3 and SYMPK.		Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.546G>T	CCDS14473.1																																																																																				0.463	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		26	67	1	0	3.73148e-12	0.007291	5.32751e-12	26	67				
NOX1	27035	broad.mit.edu	37	X	100103634	100103634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:100103634G>C	ENST00000372966.3	-	12	1758	c.1553C>G	c.(1552-1554)gCt>gGt	p.A518G	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.A481G|NOX1_ENST00000217885.5_Missense_Mutation_p.A469G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	518	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGGGAGGTAGCTATTGTAGA	0.473																																							uc004egj.2		NA																	0				ovary(1)	1						c.(1552-1554)GCT>GGT		NADPH oxidase 1 isoform long							176.0	160.0	165.0					X																	100103634		2203	4300	6503	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100103634G>C	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1553C>G	X.37:g.100103634G>C	ENSP00000362057:p.Ala518Gly					NOX1_uc004egl.3_Missense_Mutation_p.A469G|NOX1_uc010nne.2_Missense_Mutation_p.A481G	p.A518G	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			12	1759	-			518			Interaction with NOXO1.|Cytoplasmic (Potential).		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1553C>G	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.772035	0.49680	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95518	-3.55;-3.73;-3.55	4.68	4.68	0.58851	Ferric reductase, NAD binding (1);	0.132113	0.52532	D	0.000076	D	0.95865	0.8654	L	0.59912	1.85	0.49798	D	0.999828	P;B;B	0.48503	0.911;0.008;0.055	P;B;B	0.53102	0.718;0.067;0.077	D	0.95910	0.8922	10	0.52906	T	0.07	-13.3972	15.7048	0.77569	0.0:0.0:1.0:0.0	.	481;469;518	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	G	518;469;481	ENSP00000362057:A518G;ENSP00000217885:A469G;ENSP00000362051:A481G	ENSP00000217885:A469G	A	-	2	0	NOX1	99990290	1.000000	0.71417	0.840000	0.33206	0.973000	0.67179	5.242000	0.65389	2.157000	0.67596	0.522000	0.50473	GCT		0.473	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		13	58	0	0	0	0.00245	0	13	58				
NXF5	55998	broad.mit.edu	37	X	101092590	101092590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:101092590G>T	ENST00000361708.2	-	15	1315	c.956C>A	c.(955-957)cCa>cAa	p.P319Q	NXF5_ENST00000537026.1_Missense_Mutation_p.P319Q|NXF5_ENST00000473265.2_Missense_Mutation_p.P319Q			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	319	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACGTTTCGTGGACATTTTGT	0.532																																							uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.(955-957)CCA>CAA		nuclear RNA export factor 5							171.0	137.0	149.0					X																	101092590		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092590G>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.956C>A	X.37:g.101092590G>T	ENSP00000355286:p.Pro319Gln					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.P319Q	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			15	1316	-			319			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.956C>A		.	.	.	.	.	.	.	.	.	.	.	0.009	-1.826294	0.00589	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.44482	0.97;0.97;0.92	.	.	.	.	0.781992	0.11253	N	0.583408	T	0.16257	0.0391	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	8	0.18710	T	0.47	.	.	.	.	.	319	A2RRM0	.	Q	319	ENSP00000442401:P319Q;ENSP00000426978:P319Q;ENSP00000355286:P319Q	ENSP00000263032:P319Q	P	-	2	0	NXF5	100979246	0.003000	0.15002	0.003000	0.11579	0.004000	0.04260	0.204000	0.17335	0.099000	0.17552	0.100000	0.15512	CCA		0.532	NXF5-201	KNOWN	basic	protein_coding	protein_coding				32	70	1	0	1.06801e-11	0.009535	1.50105e-11	32	70				
GPRASP1	9737	broad.mit.edu	37	X	101911151	101911151	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:101911151G>A	ENST00000361600.5	+	5	3111	c.2310G>A	c.(2308-2310)agG>agA	p.R770R	GPRASP1_ENST00000537097.1_Silent_p.R770R|GPRASP1_ENST00000415986.1_Silent_p.R770R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.R770R	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	770	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAGTCCAGGCCAGAAGCTG	0.488																																							uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(2308-2310)AGG>AGA		G protein-coupled receptor associated sorting							91.0	96.0	94.0					X																	101911151		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911151G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2310G>A	X.37:g.101911151G>A						GPRASP1_uc004eji.3_Silent_p.R770R|GPRASP1_uc010nod.2_Silent_p.R770R	p.R770R	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3111	+			770			Glu-rich.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.2310G>A	CCDS35352.1																																																																																				0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		24	72	0	0	0	0.00278	0	24	72				
H2BFWT	158983	broad.mit.edu	37	X	103268102	103268102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:103268102G>C	ENST00000217926.5	-	1	157	c.131C>G	c.(130-132)aCc>aGc	p.T44S	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	44						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGGCTCCTGGGTGATCAGCTG	0.627																																							uc004elr.2		NA																	0				ovary(1)	1						c.(130-132)ACC>AGC		H2B histone family, member W, testis-specific							79.0	62.0	68.0					X																	103268102		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103268102G>C	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.131C>G	X.37:g.103268102G>C	ENSP00000354723:p.Thr44Ser						p.T44S	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	155	-			44					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.131C>G	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	5.678	0.309716	0.10733	.	.	ENSG00000123569	ENST00000217926	T	0.21361	2.01	2.16	2.16	0.27623	.	.	.	.	.	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	1	P	0.37466	0.596	B	0.26770	0.073	T	0.16482	-1.0401	9	0.29301	T	0.29	.	4.3168	0.10997	0.1991:0.0:0.8009:0.0	.	44	Q7Z2G1	H2BWT_HUMAN	S	44	ENSP00000354723:T44S	ENSP00000354723:T44S	T	-	2	0	H2BFWT	103154758	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.469000	0.06648	1.388000	0.46506	0.600000	0.82982	ACC		0.627	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		14	23	0	0	0	0.00245	0	14	23				
COL4A5	1287	broad.mit.edu	37	X	107821200	107821200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:107821200G>T	ENST00000361603.2	+	11	872	c.628G>T	c.(628-630)Gga>Tga	p.G210*	COL4A5_ENST00000328300.6_Nonsense_Mutation_p.G210*	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	210	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGTCCACCAGGACTTCCAGG	0.308									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(628-630)GGA>TGA		type IV collagen alpha 5 isoform 2 precursor							41.0	43.0	42.0					X																	107821200		2192	4291	6483	SO:0001587	stop_gained	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107821200G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.628G>T	X.37:g.107821200G>T	ENSP00000354505:p.Gly210*					COL4A5_uc011mso.1_Nonsense_Mutation_p.G210*	p.G210*	NM_033380	NP_203699	P29400	CO4A5_HUMAN			11	830	+			210			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	c.628G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	39	7.611627	0.98390	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.118	0.59311	0.0:0.0:0.8395:0.1605	.	.	.	.	X	210	.	ENSP00000331902:G210X	G	+	1	0	COL4A5	107707856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.195000	0.94971	2.019000	0.59389	0.600000	0.82982	GGA		0.308	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			6	19	1	0	5.9392e-07	0.001168	7.17882e-07	6	19				
CAPN6	827	broad.mit.edu	37	X	110494896	110494896	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:110494896A>T	ENST00000324068.1	-	6	941	c.774T>A	c.(772-774)gaT>gaA	p.D258E	CAPN6_ENST00000541758.1_Missense_Mutation_p.D3E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	258	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTTTGCGAATATCAGTCATGG	0.453																																							uc004epc.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(772-774)GAT>GAA		calpain 6							292.0	286.0	288.0					X																	110494896		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494896A>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.774T>A	X.37:g.110494896A>T	ENSP00000317214:p.Asp258Glu					CAPN6_uc011msu.1_Missense_Mutation_p.D3E	p.D258E	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	942	-			258			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.774T>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	A	9.453	1.091008	0.20471	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;D	0.86432	0.8;-2.12	6.17	0.557	0.17260	Peptidase C2, calpain, catalytic domain (3);	0.102945	0.64402	D	0.000004	T	0.80747	0.4682	L	0.52823	1.66	0.25324	N	0.989092	B	0.33777	0.425	B	0.39465	0.3	T	0.68868	-0.5295	10	0.39692	T	0.17	.	1.0901	0.01662	0.2122:0.147:0.3501:0.2907	.	258	Q9Y6Q1	CAN6_HUMAN	E	258;3	ENSP00000317214:D258E;ENSP00000441736:D3E	ENSP00000317214:D258E	D	-	3	2	CAPN6	110381552	0.355000	0.24921	1.000000	0.80357	0.990000	0.78478	-0.206000	0.09398	0.391000	0.25143	0.486000	0.48141	GAT		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			40	279	0	0	0	0.002522	0	40	279				
LONRF3	79836	broad.mit.edu	37	X	118140177	118140177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:118140177G>T	ENST00000371628.3	+	6	1540	c.1509G>T	c.(1507-1509)ttG>ttT	p.L503F	LONRF3_ENST00000422289.2_Missense_Mutation_p.L247F|LONRF3_ENST00000304778.7_Missense_Mutation_p.L462F|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	503							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGTCCATTGTGCAAAGACG	0.358																																							uc004eqw.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1507-1509)TTG>TTT		LON peptidase N-terminal domain and ring finger							211.0	197.0	202.0					X																	118140177		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118140177G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1509G>T	X.37:g.118140177G>T	ENSP00000360690:p.Leu503Phe					LONRF3_uc004eqx.2_Missense_Mutation_p.L462F|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.L247F	p.L503F	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			6	1540	+			503			RING-type 2.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1509G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184118|3.184118	0.57800|0.57800	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	D;D;D;D|.	0.85013|.	-1.93;-1.93;-1.93;-1.93|.	5.68|5.68	0.58|0.58	0.17402|0.17402	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.51669|0.51669	0.1688|0.1688	L|L	0.53249|0.53249	1.67|1.67	0.46185|0.46185	D|D	0.998912|0.998912	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.40327|0.40327	-0.9569|-0.9569	10|5	0.56958|.	D|.	0.05|.	-16.2043|-16.2043	2.942|2.942	0.05834|0.05834	0.2132:0.1184:0.544:0.1244|0.2132:0.1184:0.544:0.1244	.|.	247;462;503|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	F|L	462;462;503;247|269	ENSP00000360691:L462F;ENSP00000307732:L462F;ENSP00000360690:L503F;ENSP00000408894:L247F|.	ENSP00000307732:L462F|.	L|V	+|+	3|1	2|0	LONRF3|LONRF3	118024205|118024205	0.959000|0.959000	0.32827|0.32827	0.950000|0.950000	0.38849|0.38849	0.793000|0.793000	0.44817|0.44817	0.071000|0.071000	0.14594|0.14594	-0.051000|-0.051000	0.13334|0.13334	-0.198000|-0.198000	0.12761|0.12761	TTG|GTG		0.358	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		53	131	1	0	8.44121e-28	0.00361	1.55655e-27	53	131				
UBE2A	7319	broad.mit.edu	37	X	118717179	118717179	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:118717179T>A	ENST00000371558.2	+	6	594	c.420T>A	c.(418-420)cgT>cgA	p.R140R	UBE2A_ENST00000346330.3_Silent_p.R110R|UBE2A_ENST00000371569.5_Silent_p.R65R	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	140					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						ATGAAAAGCGTGTTTCTGCAA	0.438								Rad6 pathway																															uc004erl.2		NA																	0					0						c.(418-420)CGT>CGA	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2A isoform 1							139.0	125.0	130.0					X																	118717179		2203	4300	6503	SO:0001819	synonymous_variant	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118717179T>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.420T>A	X.37:g.118717179T>A						UBE2A_uc004erm.2_Silent_p.R110R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Silent_p.R65R	p.R140R	NM_003336	NP_003327	P49459	UBE2A_HUMAN			6	596	+			140					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Silent	SNP	ENST00000371558.2	37	c.420T>A	CCDS14580.1																																																																																				0.438	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		26	85	0	0	0	0.00632	0	26	85				
ZBTB33	10009	broad.mit.edu	37	X	119388309	119388309	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119388309G>T	ENST00000326624.2	+	2	1267	c.1039G>T	c.(1039-1041)Gac>Tac	p.D347Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D347Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	347					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.D347H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCAGTCCTGACTCGGCCGT	0.428																																							uc004esn.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1039-1041)GAC>TAC		kaiso							161.0	138.0	146.0					X																	119388309		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388309G>T	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1039G>T	X.37:g.119388309G>T	ENSP00000314153:p.Asp347Tyr					ZBTB33_uc010nqm.1_Missense_Mutation_p.D347Y	p.D347Y	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	1267	+			347					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1039G>T	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161645	0.38119	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.10960	2.82;2.82	5.55	4.68	0.58851	.	0.400315	0.26122	N	0.026212	T	0.14313	0.0346	N	0.24115	0.695	0.35962	D	0.834681	D	0.61697	0.99	P	0.56865	0.808	T	0.14924	-1.0455	10	0.66056	D	0.02	-9.3157	9.2669	0.37647	0.1764:0.0:0.8236:0.0	.	347	Q86T24	KAISO_HUMAN	Y	347	ENSP00000314153:D347Y;ENSP00000450969:D347Y	ENSP00000314153:D347Y	D	+	1	0	ZBTB33;AC002086.1	119272337	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.987000	0.40687	1.218000	0.43458	0.513000	0.50165	GAC		0.428	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		43	72	1	0	1.76056e-25	0.002852	3.21765e-25	43	72				
TMEM255A	55026	broad.mit.edu	37	X	119438318	119438318	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119438318G>T	ENST00000309720.5	-	2	210	c.87C>A	c.(85-87)tcC>tcA	p.S29S	TMEM255A_ENST00000371369.4_Silent_p.S29S|TMEM255A_ENST00000440464.1_Silent_p.S29S	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	29						integral component of membrane (GO:0016021)											TGACATAGATGGAGTTTCGTT	0.428																																							uc004eso.3		NA																	0				lung(1)|breast(1)	2						c.(85-87)TCC>TCA		hypothetical protein LOC55026 isoform 1							176.0	133.0	148.0					X																	119438318		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119438318G>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.87C>A	X.37:g.119438318G>T						FAM70A_uc004esp.3_Silent_p.S29S|FAM70A_uc010nqo.2_Silent_p.S29S	p.S29S	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			2	314	-			29					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.87C>A	CCDS14597.1																																																																																				0.428	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		26	58	1	0	1.17739e-12	0.005443	1.6978e-12	26	58				
LAMP2	3920	broad.mit.edu	37	X	119582867	119582867	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119582867G>C	ENST00000200639.4	-	4	650	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V	LAMP2_ENST00000540603.1_Missense_Mutation_p.L125V|LAMP2_ENST00000371335.4_Missense_Mutation_p.L172V|LAMP2_ENST00000434600.2_Missense_Mutation_p.L172V|LAMP2_ENST00000538785.1_Missense_Mutation_p.L61V			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	172	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTTGTACAAGAACATCCCAG	0.358																																							uc004est.3		NA																	0				ovary(1)	1						c.(514-516)CTT>GTT		lysosomal-associated membrane protein 2 isoform							102.0	95.0	97.0					X																	119582867		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119582867G>C	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.514C>G	X.37:g.119582867G>C	ENSP00000200639:p.Leu172Val					LAMP2_uc004ess.3_Missense_Mutation_p.L172V|LAMP2_uc011mtz.1_Missense_Mutation_p.L61V|LAMP2_uc011mua.1_Missense_Mutation_p.L125V|LAMP2_uc010nqp.1_Missense_Mutation_p.L172V	p.L172V	NM_002294	NP_002285	P13473	LAMP2_HUMAN			4	694	-			172			Lumenal (Potential).|First lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.514C>G	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	0.234	-1.018834	0.02078	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.51	3.59	0.41128	.	0.793269	0.12231	N	0.487480	T	0.18841	0.0452	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.11329	0.004;0.004;0.004;0.006;0.004	T	0.15607	-1.0431	10	0.41790	T	0.15	-0.8485	7.6383	0.28280	0.0:0.3293:0.4934:0.1773	.	125;61;172;172;172	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	V	172;61;172;172;125	ENSP00000408411:L172V;ENSP00000440506:L61V;ENSP00000200639:L172V;ENSP00000360386:L172V;ENSP00000440479:L125V	ENSP00000200639:L172V	L	-	1	0	LAMP2	119466895	0.619000	0.27059	0.057000	0.19452	0.380000	0.30137	0.758000	0.26447	1.180000	0.42898	0.538000	0.68166	CTT		0.358	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			25	67	0	0	0	0.007291	0	25	67				
CUL4B	8450	broad.mit.edu	37	X	119673217	119673217	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119673217T>A	ENST00000404115.3	-	14	2102	c.1701A>T	c.(1699-1701)gtA>gtT	p.V567V	CUL4B_ENST00000371322.5_Silent_p.V549V|CUL4B_ENST00000336592.6_Silent_p.V554V	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	567					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTTGAATCTACATACTTAG	0.348																																							uc004esw.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1699-1701)GTA>GTT		cullin 4B isoform 1							68.0	58.0	61.0					X																	119673217		2201	4298	6499	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119673217T>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1701A>T	X.37:g.119673217T>A						CUL4B_uc010nqq.2_Silent_p.V266V|CUL4B_uc004esv.2_Silent_p.V549V	p.V567V	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			14	2138	-			567					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.1701A>T	CCDS35379.1																																																																																				0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		3	9	0	0	0	0.004672	0	3	9				
GLUD2	2747	broad.mit.edu	37	X	120181692	120181692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:120181692C>A	ENST00000328078.1	+	1	231	c.154C>A	c.(154-156)Cac>Aac	p.H52N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	52					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						CGCCCGGCGCCACTACAGCGA	0.716																																							uc004eto.2		NA																	0				pancreas(1)	1						c.(154-156)CAC>AAC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						26.0	28.0	27.0					X																	120181692		2196	4281	6477	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:120181692C>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.154C>A	X.37:g.120181692C>A	ENSP00000327589:p.His52Asn						p.H52N	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	231	+			52					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.154C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348995	0.24426	.	.	ENSG00000182890	ENST00000328078	D	0.96168	-3.93	1.47	0.574	0.17368	.	0.140262	0.48767	U	0.000171	D	0.86016	0.5832	N	0.12569	0.235	0.25088	N	0.99088	B	0.24092	0.097	B	0.18871	0.023	T	0.75522	-0.3288	10	0.27082	T	0.32	.	5.5962	0.17329	0.0:0.7931:0.0:0.2069	.	52	P49448	DHE4_HUMAN	N	52	ENSP00000327589:H52N	ENSP00000327589:H52N	H	+	1	0	GLUD2	120009373	0.939000	0.31865	0.001000	0.08648	0.028000	0.11728	1.687000	0.37680	0.146000	0.19002	0.372000	0.22366	CAC		0.716	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		19	26	1	0	3.62473e-10	0.001882	4.8622e-10	19	26				
GLUD2	2747	broad.mit.edu	37	X	120183091	120183091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:120183091C>A	ENST00000328078.1	+	1	1630	c.1553C>A	c.(1552-1554)gCc>gAc	p.A518D		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	518					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						GAGCGTTCTGCCAGGCAAATT	0.463																																							uc004eto.2		NA																	0				pancreas(1)	1						c.(1552-1554)GCC>GAC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						159.0	121.0	134.0					X																	120183091		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:120183091C>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.1553C>A	X.37:g.120183091C>A	ENSP00000327589:p.Ala518Asp						p.A518D	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1630	+			518					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1553C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352270	0.24512	.	.	ENSG00000182890	ENST00000328078	D	0.96619	-4.07	1.46	1.46	0.22682	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.051181	0.85682	D	0.000000	D	0.94857	0.8338	M	0.82323	2.585	0.58432	D	0.999994	B	0.27192	0.171	B	0.26094	0.066	D	0.93383	0.6745	10	0.72032	D	0.01	-9.6624	8.5343	0.33353	0.0:1.0:0.0:0.0	.	518	P49448	DHE4_HUMAN	D	518	ENSP00000327589:A518D	ENSP00000327589:A518D	A	+	2	0	GLUD2	120010772	1.000000	0.71417	0.065000	0.19835	0.076000	0.17211	3.566000	0.53805	1.060000	0.40578	0.182000	0.17080	GCC		0.463	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		24	49	1	0	7.4402e-23	0.003954	1.31641e-22	24	49				
GRIA3	2892	broad.mit.edu	37	X	122387172	122387172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:122387172G>T	ENST00000371251.1	+	3	339	c.287G>T	c.(286-288)aGa>aTa	p.R96I	GRIA3_ENST00000542149.1_Missense_Mutation_p.R96I|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.R80I|GRIA3_ENST00000264357.5_Missense_Mutation_p.R96I|GRIA3_ENST00000371256.5_Missense_Mutation_p.R96I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	96					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAGTTCTCGAGAGGGGTGTAT	0.458																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(286-288)AGA>ATA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						170.0	133.0	145.0					X																	122387172		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387172G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.287G>T	X.37:g.122387172G>T	ENSP00000360297:p.Arg96Ile					GRIA3_uc004etr.3_Missense_Mutation_p.R96I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.R80I	p.R96I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			4	580	+			96			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.287G>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980164	0.92982	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.68593	2.085	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.984	P;D;D	0.69142	0.887;0.962;0.937	D	0.88548	0.3114	10	0.25751	T	0.34	.	17.7593	0.88460	0.0:0.0:1.0:0.0	.	80;96;96	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	96;96;96;96;80	ENSP00000264357:R96I;ENSP00000446146:R96I;ENSP00000360302:R96I;ENSP00000360297:R96I;ENSP00000446440:R80I	ENSP00000264357:R96I	R	+	2	0	GRIA3	122214853	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.813000	0.99286	2.499000	0.84300	0.513000	0.50165	AGA		0.458	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		24	76	1	0	2.79863e-10	0.004656	3.76458e-10	24	76				
GRIA3	2892	broad.mit.edu	37	X	122616872	122616872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:122616872G>T	ENST00000371251.1	+	15	2714	c.2662G>T	c.(2662-2664)Gga>Tga	p.G888*	GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.G888*|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.G888*			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	888					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAACGTGTATGGAACAGAGAG	0.378																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2662-2664)GGA>TGA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						111.0	100.0	104.0					X																	122616872		2203	4300	6503	SO:0001587	stop_gained	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616872G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2662G>T	X.37:g.122616872G>T	ENSP00000360297:p.Gly888*					GRIA3_uc004etr.3_Nonsense_Mutation_p.G888*|GRIA3_uc004ets.3_RNA	p.G888*	NM_007325	NP_015564	P42263	GRIA3_HUMAN			16	2955	+			888			Cytoplasmic (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	ENST00000371251.1	37	c.2662G>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	40	8.004353	0.98605	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	.	.	.	X	888	.	ENSP00000264357:G888X	G	+	1	0	GRIA3	122444553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.436000	0.82500	0.600000	0.82982	GGA		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		26	66	1	0	1.39806e-14	0.008361	2.13785e-14	26	66				
STAG2	10735	broad.mit.edu	37	X	123191804	123191804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:123191804G>T	ENST00000371160.1	+	15	1683	c.1393G>T	c.(1393-1395)Gtt>Ttt	p.V465F	STAG2_ENST00000371157.3_Missense_Mutation_p.V465F|STAG2_ENST00000371145.3_Missense_Mutation_p.V465F|STAG2_ENST00000371144.3_Missense_Mutation_p.V465F|STAG2_ENST00000218089.9_Missense_Mutation_p.V465F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.V396F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	465					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.V465F(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGACATTGGTTTTTTTCTT	0.348																																							uc004etz.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|skin(1)	5						c.(1393-1395)GTT>TTT		stromal antigen 2 isoform b							134.0	121.0	125.0					X																	123191804		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123191804G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1393G>T	X.37:g.123191804G>T	ENSP00000360202:p.Val465Phe					STAG2_uc004eua.2_Missense_Mutation_p.V465F|STAG2_uc004eub.2_Missense_Mutation_p.V465F|STAG2_uc004euc.2_Missense_Mutation_p.V465F|STAG2_uc004eud.2_Missense_Mutation_p.V465F|STAG2_uc004eue.2_Missense_Mutation_p.V465F	p.V465F	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			14	1732	+			465					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1393G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072433	0.93950	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.52057	1.62;0.68;1.24;1.23;1.23;1.62;1.23	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.984	D;P	0.66979	0.948;0.852	T	0.67715	-0.5599	10	0.56958	D	0.05	-9.146	18.8857	0.92376	0.0:0.0:1.0:0.0	.	465;465	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	465;465;396;465;465;465;465	ENSP00000218089:V465F;ENSP00000397265:V465F;ENSP00000346555:V396F;ENSP00000360202:V465F;ENSP00000360199:V465F;ENSP00000360187:V465F;ENSP00000360186:V465F	ENSP00000218089:V465F	V	+	1	0	STAG2	123019485	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.624000	0.98398	2.407000	0.81776	0.600000	0.82982	GTT		0.348	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		11	45	1	0	1.08611e-07	0.000978	1.35482e-07	11	45				
STAG2	10735	broad.mit.edu	37	X	123202495	123202495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:123202495G>T	ENST00000371160.1	+	24	2637	c.2347G>T	c.(2347-2349)Gtt>Ttt	p.V783F	STAG2_ENST00000371157.3_Missense_Mutation_p.V783F|STAG2_ENST00000371145.3_Missense_Mutation_p.V783F|STAG2_ENST00000371144.3_Missense_Mutation_p.V783F|STAG2_ENST00000218089.9_Missense_Mutation_p.V783F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.V714F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	783					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAATACTACTGTTAAGGAACA	0.294																																							uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(2347-2349)GTT>TTT		stromal antigen 2 isoform b							63.0	59.0	60.0					X																	123202495		2203	4283	6486	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123202495G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2347G>T	X.37:g.123202495G>T	ENSP00000360202:p.Val783Phe					STAG2_uc004eua.2_Missense_Mutation_p.V783F|STAG2_uc004eub.2_Missense_Mutation_p.V783F|STAG2_uc004euc.2_Missense_Mutation_p.V783F|STAG2_uc004eud.2_Missense_Mutation_p.V783F|STAG2_uc004eue.2_Missense_Mutation_p.V783F	p.V783F	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			23	2686	+			783					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2347G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394407	0.62066	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.64170	1.965	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69654	0.965;0.944	T	0.68503	-0.5391	10	0.56958	D	0.05	-15.132	18.1228	0.89577	0.0:0.0:1.0:0.0	.	783;783	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	783;714;783;783;783;783	ENSP00000218089:V783F;ENSP00000346555:V714F;ENSP00000360202:V783F;ENSP00000360199:V783F;ENSP00000360187:V783F;ENSP00000360186:V783F	ENSP00000218089:V783F	V	+	1	0	STAG2	123030176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.303000	0.77524	0.538000	0.68166	GTT		0.294	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		14	34	1	0	0.00316338	0.003163	0.00336153	14	34				
DCAF12L1	139170	broad.mit.edu	37	X	125685683	125685683	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:125685683C>G	ENST00000371126.1	-	1	1151	c.909G>C	c.(907-909)ctG>ctC	p.L303L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	303								p.L303L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAAGTAGGGCAGCCTGATGG	0.597																																							uc004eul.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(907-909)CTG>CTC		DDB1 and CUL4 associated factor 12-like 1							66.0	61.0	63.0					X																	125685683		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685683C>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.909G>C	X.37:g.125685683C>G							p.L303L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1160	-			303					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.909G>C	CCDS14610.1																																																																																				0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	54	0	0	0	0.00245	0	14	54				
DCAF12L1	139170	broad.mit.edu	37	X	125686465	125686465	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:125686465T>A	ENST00000371126.1	-	1	369	c.127A>T	c.(127-129)Agg>Tgg	p.R43W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	43										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCGGCCGCCTCTGCCTCTTG	0.711																																							uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(127-129)AGG>TGG		DDB1 and CUL4 associated factor 12-like 1							21.0	26.0	24.0					X																	125686465		2030	4013	6043	SO:0001583	missense	139170							g.chrX:125686465T>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.127A>T	X.37:g.125686465T>A	ENSP00000360167:p.Arg43Trp						p.R43W	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	378	-			43					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.127A>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162274	0.57368	.	.	ENSG00000198889	ENST00000371126	T	0.22539	1.95	3.48	0.852	0.18995	.	.	.	.	.	T	0.27384	0.0672	M	0.63843	1.955	0.09310	N	1	D	0.57257	0.979	P	0.49252	0.604	T	0.12785	-1.0534	9	0.87932	D	0	.	7.9457	0.29985	0.0:0.0:0.4151:0.5849	.	43	Q5VU92	DC121_HUMAN	W	43	ENSP00000360167:R43W	ENSP00000360167:R43W	R	-	1	2	DCAF12L1	125514146	0.982000	0.34865	0.000000	0.03702	0.013000	0.08279	0.451000	0.21779	0.064000	0.16427	0.412000	0.27726	AGG		0.711	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		11	49	0	0	0	0.00245	0	11	49				
SMARCA1	6594	broad.mit.edu	37	X	128633753	128633753	+	Missense_Mutation	SNP	C	C	G	rs35189334		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:128633753C>G	ENST00000371122.4	-	10	1362	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	SMARCA1_ENST00000371121.3_Missense_Mutation_p.K411N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.K411N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	411					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTTTATTTCCTTTTTAGGTG	0.299																																							uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(1231-1233)AAG>AAC		SWI/SNF-related matrix-associated							113.0	117.0	116.0					X																	128633753		2203	4298	6501	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128633753C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1233G>C	X.37:g.128633753C>G	ENSP00000360163:p.Lys411Asn					SMARCA1_uc004eup.3_Missense_Mutation_p.K411N|SMARCA1_uc011muk.1_Missense_Mutation_p.K411N|SMARCA1_uc011mul.1_Missense_Mutation_p.K411N	p.K411N	NM_003069	NP_003060	P28370	SMCA1_HUMAN			10	1346	-			411					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1233G>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370500	0.61624	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.24	5.24	0.73138	SNF2-related (1);	0.000000	0.64402	D	0.000004	T	0.77890	0.4198	L	0.31157	0.91	0.51767	D	0.999933	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.79976	-0.1576	10	0.87932	D	0	-15.1878	10.8527	0.46780	0.0:0.8528:0.0:0.1472	.	390;411;411;411	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	411;411;411;390	ENSP00000360162:K411N;ENSP00000360164:K411N;ENSP00000360163:K411N;ENSP00000404275:K390N	ENSP00000360162:K411N	K	-	3	2	SMARCA1	128461434	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.186000	0.32078	2.166000	0.68216	0.509000	0.49947	AAG		0.299	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		44	71	0	0	0	0.00361	0	44	71				
OCRL	4952	broad.mit.edu	37	X	128692702	128692702	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:128692702C>T	ENST00000371113.4	+	7	697	c.532C>T	c.(532-534)Cca>Tca	p.P178S	OCRL_ENST00000357121.5_Missense_Mutation_p.P178S|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	178					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGGGAACCCCCACCTCCACC	0.348																																							uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.(532-534)CCA>TCA		phosphatidylinositol polyphosphate 5-phosphatase							61.0	58.0	59.0					X																	128692702		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692702C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.532C>T	X.37:g.128692702C>T	ENSP00000360154:p.Pro178Ser					OCRL_uc004eur.2_Missense_Mutation_p.P178S	p.P178S	NM_000276	NP_000267	Q01968	OCRL_HUMAN			7	697	+			178					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.532C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775258	0.49786	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94376	-3.4;-3.41	5.68	5.68	0.88126	.	0.194746	0.44902	D	0.000411	D	0.94716	0.8295	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	D	0.94957	0.8105	10	0.51188	T	0.08	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	178;178	Q01968-2;Q01968	.;OCRL_HUMAN	S	178	ENSP00000360154:P178S;ENSP00000349635:P178S	ENSP00000349635:P178S	P	+	1	0	OCRL	128520383	1.000000	0.71417	0.959000	0.39883	0.379000	0.30106	5.563000	0.67352	2.387000	0.81309	0.594000	0.82650	CCA		0.348	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		17	41	0	0	0	0.00499	0	17	41				
UTP14A	10813	broad.mit.edu	37	X	129063311	129063311	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129063311G>T	ENST00000394422.3	+	15	2071		c.e15-1		UTP14A_ENST00000371051.5_Splice_Site|UTP14A_ENST00000371042.3_Splice_Site|UTP14A_ENST00000425117.2_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCTTTCCAGGTACGAGTGC	0.493																																							uc004euz.2		NA																	0				ovary(2)	2						c.e15-1		UTP14, U3 small nucleolar ribonucleoprotein,							94.0	86.0	89.0					X																	129063311		2203	4300	6503	SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129063311G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2044-1G>T	X.37:g.129063311G>T						UTP14A_uc011mup.1_Splice_Site_p.V630_splice|UTP14A_uc011muq.1_Splice_Site_p.V628_splice	p.V682_splice	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			15	2072	+								A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	SNP	ENST00000394422.3	37	c.2044_splice	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632492	0.29068	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1206	0.86701	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP14A	128890992	1.000000	0.71417	0.866000	0.34008	0.042000	0.13812	8.717000	0.91425	1.962000	0.57031	0.585000	0.79938	.		0.493	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Intron	28	70	1	0	4.43304e-23	0.00632	7.88217e-23	28	70				
SLC25A14	9016	broad.mit.edu	37	X	129499558	129499558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129499558C>T	ENST00000218197.5	+	8	990	c.763C>T	c.(763-765)Ccg>Tcg	p.P255S	SLC25A14_ENST00000339231.3_Missense_Mutation_p.P283S|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.P252S	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	255					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGCCTCCAACCCGGTTGATGT	0.478																																							uc004evn.1		NA																	0				ovary(1)	1						c.(763-765)CCG>TCG		solute carrier family 25, member 14 isoform							201.0	169.0	180.0					X																	129499558		2203	4300	6503	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129499558C>T	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.763C>T	X.37:g.129499558C>T	ENSP00000218197:p.Pro255Ser					SLC25A14_uc011mut.1_3'UTR|SLC25A14_uc011muu.1_3'UTR|SLC25A14_uc010nrg.2_3'UTR|SLC25A14_uc004evo.1_Missense_Mutation_p.P76S|SLC25A14_uc004evp.1_Missense_Mutation_p.P255S|SLC25A14_uc004evq.1_Missense_Mutation_p.P252S|SLC25A14_uc004evr.1_Missense_Mutation_p.P283S	p.P255S	NM_003951	NP_003942	O95258	UCP5_HUMAN			9	976	+			255			Solcar 3.|Helical; Name=5; (Potential).		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.763C>T	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870940	0.91587	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	D;D;D	0.97089	-4.24;-4.24;-4.24	4.91	4.91	0.64330	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.94306	3.52	0.80722	D	1	D;D;D	0.64830	0.994;0.992;0.994	P;P;D	0.63283	0.858;0.775;0.913	D	0.99737	1.1014	10	0.87932	D	0	-11.9312	15.9409	0.79754	0.0:1.0:0.0:0.0	.	283;252;255	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	S	255;252;283	ENSP00000218197:P255S;ENSP00000354455:P252S;ENSP00000342797:P283S	ENSP00000218197:P255S	P	+	1	0	SLC25A14	129327239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.969000	0.76092	2.278000	0.76064	0.594000	0.82650	CCG		0.478	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		33	90	0	0	0	0.003755	0	33	90				
ENOX2	10495	broad.mit.edu	37	X	129759372	129759372	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129759372G>A	ENST00000370927.1	-	13	1770	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	ENOX2_ENST00000338144.3_Silent_p.T583T|ENOX2_ENST00000394363.1_Silent_p.T554T|ENOX2_ENST00000370935.1_Silent_p.T554T			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	583					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCTGCTTGAAGGTATGCTGGA	0.468																																					Ovarian(101;828 1506 2951 9500 35258)	Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	0				ovary(1)	1						c.(1747-1749)ACC>ACT		ecto-NOX disulfide-thiol exchanger 2 isoform b							108.0	81.0	90.0					X																	129759372		2203	4300	6503	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759372G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1749C>T	X.37:g.129759372G>A						ENOX2_uc004evx.2_Silent_p.T554T|ENOX2_uc004evy.2_Silent_p.T554T|ENOX2_uc004evv.2_Silent_p.T408T	p.T583T	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			16	2167	-			583					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.1749C>T	CCDS14626.1																																																																																				0.468	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		10	27	0	0	0	0.008291	0	10	27				
ENOX2	10495	broad.mit.edu	37	X	129799677	129799677	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129799677T>A	ENST00000370927.1	-	7	1062	c.1041A>T	c.(1039-1041)gcA>gcT	p.A347A	ENOX2_ENST00000338144.3_Silent_p.A347A|ENOX2_ENST00000394363.1_Silent_p.A318A|ENOX2_ENST00000370935.1_Silent_p.A318A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	347					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGTGGTCCCATGCCTTCTGCT	0.522																																					Ovarian(101;828 1506 2951 9500 35258)	Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	0				ovary(1)	1						c.(1039-1041)GCA>GCT		ecto-NOX disulfide-thiol exchanger 2 isoform b							102.0	66.0	78.0					X																	129799677		2203	4299	6502	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799677T>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1041A>T	X.37:g.129799677T>A						ENOX2_uc004evx.2_Silent_p.A318A|ENOX2_uc004evy.2_Silent_p.A318A|ENOX2_uc004evv.2_Silent_p.A174A	p.A347A	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			10	1459	-			347					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.1041A>T	CCDS14626.1																																																																																				0.522	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		5	15	0	0	0	0.001168	0	5	15				
IGSF1	3547	broad.mit.edu	37	X	130409233	130409233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:130409233G>A	ENST00000361420.3	-	17	3291	c.3212C>T	c.(3211-3213)gCc>gTc	p.A1071V	IGSF1_ENST00000370904.1_Missense_Mutation_p.A1062V|IGSF1_ENST00000370903.3_Missense_Mutation_p.A1076V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A1062V|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1071	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGGCTGGGCTAATAGGCT	0.537																																							uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3211-3213)GCC>GTC		immunoglobulin superfamily, member 1 isoform 1							77.0	81.0	80.0					X																	130409233		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409233G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3212C>T	X.37:g.130409233G>A	ENSP00000355010:p.Ala1071Val					IGSF1_uc004ewe.3_Missense_Mutation_p.A1065V|IGSF1_uc004ewf.2_Missense_Mutation_p.A1051V	p.A1071V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			17	3450	-			1071			Extracellular (Potential).|Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3212C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	2.428	-0.331523	0.05314	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	4.83	2.06	0.26882	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216636	0.34291	N	0.004092	T	0.02494	0.0076	L	0.36672	1.1	0.27652	N	0.947374	B;B;B	0.12630	0.003;0.006;0.003	B;B;B	0.15484	0.004;0.013;0.008	T	0.41538	-0.9503	10	0.30854	T	0.27	.	6.2013	0.20577	0.3315:0.0:0.6685:0.0	.	1062;515;1071	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	1062;1071;1062;1076	ENSP00000359947:A1062V;ENSP00000355010:A1071V;ENSP00000359941:A1062V;ENSP00000359940:A1076V	ENSP00000355010:A1071V	A	-	2	0	IGSF1	130236914	1.000000	0.71417	0.955000	0.39395	0.870000	0.49936	1.072000	0.30678	0.186000	0.20125	-0.199000	0.12753	GCC		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			34	80	0	0	0	0.004289	0	34	80				
GPC4	2239	broad.mit.edu	37	X	132548940	132548941	+	Missense_Mutation	DNP	GG	GG	TT	rs150450966	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:132548940_132548941GG>TT	ENST00000370828.3	-	1	577_578	c.53_54CC>AA	c.(52-54)gCC>gAA	p.A18E	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	18					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAGCGCGGCGCTGAGCAC	0.644																																							uc004exc.1		NA																	0					0						c.(52-54)GCC>GAA		glypican 4 precursor																																				SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548940_132548941GG>TT	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.53_54delinsTT	X.37:g.132548940_132548941delinsTT	ENSP00000359864:p.Ala18Glu					GPC4_uc011mvg.1_5'Flank	p.A18E	NM_001448	NP_001439	O75487	GPC4_HUMAN			1	265_266	-	Acute lymphoblastic leukemia(192;0.000127)		18					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	DNP	ENST00000370828.3	37	c.53_54CC>AA	CCDS14637.1																																																																																				0.644	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		11	22	0	0	0	0.004672	0	11	22				
MOSPD1	56180	broad.mit.edu	37	X	134025544	134025544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:134025544C>A	ENST00000370783.3	-	5	761	c.575G>T	c.(574-576)aGt>aTt	p.S192I	MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000370777.1_Missense_Mutation_p.S193I|MOSPD1_ENST00000491609.1_5'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGATTCACACTTAAGTGGAG	0.468																																							uc004eyb.2		NA																	0				ovary(1)|breast(1)	2						c.(574-576)AGT>ATT		motile sperm domain containing 1							149.0	138.0	142.0					X																	134025544		2203	4300	6503	SO:0001583	missense	56180				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity	g.chrX:134025544C>A	Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.575G>T	X.37:g.134025544C>A	ENSP00000359819:p.Ser192Ile					MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA	p.S192I	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN			5	762	-	Acute lymphoblastic leukemia(192;0.000127)		192			Helical; (Potential).		B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Missense_Mutation	SNP	ENST00000370783.3	37	c.575G>T	CCDS14645.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817562	0.70912	.	.	ENSG00000101928	ENST00000370783;ENST00000370777	.	.	.	5.7	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.75264	2.295	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.79090	-0.1946	9	0.87932	D	0	-5.7475	12.6457	0.56733	0.0:0.9196:0.0:0.0804	.	192	Q9UJG1	MSPD1_HUMAN	I	192;193	.	ENSP00000359813:S193I	S	-	2	0	MOSPD1	133853210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	1.172000	0.42781	0.600000	0.82982	AGT		0.468	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556		38	98	1	0	4.0492e-12	0.006999	5.77542e-12	38	98				
FHL1	2273	broad.mit.edu	37	X	135288703	135288703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:135288703A>T	ENST00000345434.3	+	2	193	c.112A>T	c.(112-114)Aac>Tac	p.N38Y	FHL1_ENST00000543669.1_Missense_Mutation_p.N38Y|FHL1_ENST00000370683.1_Missense_Mutation_p.N54Y|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Missense_Mutation_p.N38Y|FHL1_ENST00000370690.3_Missense_Mutation_p.N38Y|FHL1_ENST00000370676.3_Missense_Mutation_p.N54Y|FHL1_ENST00000394155.2_Missense_Mutation_p.N38Y|FHL1_ENST00000394153.2_Missense_Mutation_p.N38Y|FHL1_ENST00000539015.1_Missense_Mutation_p.N67Y			Q13642	FHL1_HUMAN	four and a half LIM domains 1	38					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTCTGTGCCAACACCTGTGT	0.552																																							uc004ezo.2		NA																	0					0						c.(112-114)AAC>TAC		four and a half LIM domains 1 isoform 1							201.0	176.0	185.0					X																	135288703		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288703A>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.112A>T	X.37:g.135288703A>T	ENSP00000071281:p.Asn38Tyr					FHL1_uc010nrz.2_Missense_Mutation_p.N38Y|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.N38Y|FHL1_uc004ezq.2_Missense_Mutation_p.N38Y|FHL1_uc011mvy.1_Missense_Mutation_p.N38Y|FHL1_uc011mvz.1_Missense_Mutation_p.N38Y|FHL1_uc004ezn.2_Missense_Mutation_p.N38Y|FHL1_uc011mwa.1_Missense_Mutation_p.N67Y|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.N54Y|FHL1_uc004ezr.2_5'Flank	p.N38Y	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			2	212	+	Acute lymphoblastic leukemia(192;0.000127)		38					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.112A>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217269	0.79352	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.46	5.46	0.80206	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	D	0.94857	0.8338	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.999	D	0.95899	0.8913	10	0.87932	D	0	.	14.554	0.68086	1.0:0.0:0.0:0.0	.	67;54;54;38	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	Y	38;38;18;38;38;38;38;38;38;38;38;78;38;38;67;54;54;54;38	ENSP00000377710:N38Y;ENSP00000359724:N38Y;ENSP00000391779:N38Y;ENSP00000389920:N38Y;ENSP00000444815:N38Y;ENSP00000408038:N38Y;ENSP00000413798:N38Y;ENSP00000443333:N38Y;ENSP00000377709:N38Y;ENSP00000412642:N38Y;ENSP00000414604:N38Y;ENSP00000071281:N38Y;ENSP00000437673:N67Y;ENSP00000359717:N54Y;ENSP00000359710:N54Y;ENSP00000359708:N38Y	ENSP00000071281:N38Y	N	+	1	0	FHL1	135116369	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.287000	0.78681	1.817000	0.53016	0.486000	0.48141	AAC		0.552	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		37	114	0	0	0	0.006999	0	37	114				
HTATSF1	27336	broad.mit.edu	37	X	135593100	135593100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:135593100C>G	ENST00000218364.4	+	9	1370	c.1196C>G	c.(1195-1197)gCa>gGa	p.A399G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A399G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	399	Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCTTCTAGAGCAAGGCATTTT	0.483																																							uc004ezw.2		NA																	0				ovary(2)|breast(1)	3						c.(1195-1197)GCA>GGA		HIV-1 Tat specific factor 1							95.0	98.0	97.0					X																	135593100		2202	4300	6502	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593100C>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1196C>G	X.37:g.135593100C>G	ENSP00000218364:p.Ala399Gly					HTATSF1_uc004ezx.2_Missense_Mutation_p.A399G	p.A399G	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	1618	+	Acute lymphoblastic leukemia(192;0.000127)		399			Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1196C>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	C	6.070	0.381168	0.11466	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.23552	1.9;1.9	5.49	-0.973	0.10297	.	1.043920	0.07590	N	0.921825	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34378	-0.9831	10	0.19590	T	0.45	-3.6812	2.1099	0.03700	0.1338:0.3761:0.2365:0.2537	.	399	O43719	HTSF1_HUMAN	G	399	ENSP00000442699:A399G;ENSP00000218364:A399G	ENSP00000218364:A399G	A	+	2	0	HTATSF1	135420766	0.016000	0.18221	0.128000	0.21923	0.932000	0.56968	-0.442000	0.06871	0.038000	0.15604	-0.407000	0.06327	GCA		0.483	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		31	91	0	0	0	0.002445	0	31	91				
GPR101	83550	broad.mit.edu	37	X	136112472	136112472	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:136112472A>T	ENST00000298110.1	-	1	1361	c.1362T>A	c.(1360-1362)taT>taA	p.Y454*		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	454						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCATGTAGCCATAGACATAGG	0.512																																							uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1360-1362)TAT>TAA		G protein-coupled receptor 101							120.0	103.0	109.0					X																	136112472		2203	4300	6503	SO:0001587	stop_gained	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112472A>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1362T>A	X.37:g.136112472A>T	ENSP00000298110:p.Tyr454*						p.Y454*	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	1362	-	Acute lymphoblastic leukemia(192;0.000127)		454			Helical; Name=7; (Potential).		Q5JSM8|Q8NG93	Nonsense_Mutation	SNP	ENST00000298110.1	37	c.1362T>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634930	0.67130	.	.	ENSG00000165370	ENST00000298110	.	.	.	5.23	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8259	8.2276	0.31579	0.7334:0.0:0.2666:0.0	.	.	.	.	X	454	.	ENSP00000298110:Y454X	Y	-	3	2	GPR101	135940138	0.987000	0.35691	1.000000	0.80357	0.648000	0.38561	0.197000	0.17197	0.238000	0.21222	-0.617000	0.04050	TAT		0.512	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			31	52	0	0	0	0.002836	0	31	52				
F9	2158	broad.mit.edu	37	X	138642944	138642944	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:138642944C>A	ENST00000218099.2	+	7	775	c.768C>A	c.(766-768)atC>atA	p.I256I	F9_ENST00000394090.2_Silent_p.I218I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GAGGCTCTATCGTTAATGAAA	0.333																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(766-768)ATC>ATA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						244.0	217.0	226.0					X																	138642944		2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138642944C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.768C>A	X.37:g.138642944C>A						F9_uc004fat.1_Silent_p.I218I	p.I256I	NM_000133	NP_000124	P00740	FA9_HUMAN			7	797	+	Acute lymphoblastic leukemia(192;0.000127)		256			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.768C>A	CCDS14666.1																																																																																				0.333	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			37	78	1	0	9.42957e-07	0.007835	1.13218e-06	37	78				
F9	2158	broad.mit.edu	37	X	138644187	138644187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:138644187C>A	ENST00000218099.2	+	8	1350	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	F9_ENST00000394090.2_Missense_Mutation_p.S410Y	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	ACCAAGGTATCCCGGTATGTC	0.378																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3	GRCh37	CD930979|CM045149|CM940738	F9	D|M		c.(1342-1344)TCC>TAC		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						71.0	69.0	70.0					X																	138644187		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138644187C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1343C>A	X.37:g.138644187C>A	ENSP00000218099:p.Ser448Tyr					F9_uc004fat.1_Missense_Mutation_p.S410Y	p.S448Y	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1372	+	Acute lymphoblastic leukemia(192;0.000127)		448			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1343C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588584	0.66105	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.94000	-3.33;-3.33	5.59	5.59	0.84812	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.051132	0.85682	D	0.000000	D	0.96112	0.8733	M	0.63843	1.955	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96574	0.9425	10	0.87932	D	0	.	17.4099	0.87482	0.0:1.0:0.0:0.0	.	410;448	Q5FBE1;P00740	.;FA9_HUMAN	Y	448;410	ENSP00000218099:S448Y;ENSP00000377650:S410Y	ENSP00000218099:S448Y	S	+	2	0	F9	138471853	1.000000	0.71417	0.642000	0.29436	0.840000	0.47671	5.805000	0.69143	2.325000	0.78763	0.600000	0.82982	TCC		0.378	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			20	43	1	0	3.62473e-10	0.001882	4.8622e-10	20	43				
MAGEC1	9947	broad.mit.edu	37	X	140995862	140995862	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:140995862T>A	ENST00000285879.4	+	4	2958	c.2672T>A	c.(2671-2673)tTg>tAg	p.L891*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	891										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTCCTTGACAGACAGC	0.473										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2671-2673)TTG>TAG		melanoma antigen family C, 1							163.0	167.0	165.0					X																	140995862		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140995862T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2672T>A	X.37:g.140995862T>A	ENSP00000285879:p.Leu891*	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L891*	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2958	+	Acute lymphoblastic leukemia(192;6.56e-05)		891					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.2672T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	37	6.133638	0.97310	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.798	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	891	.	ENSP00000285879:L891X	L	+	2	0	MAGEC1	140823528	0.000000	0.05858	0.011000	0.14972	0.141000	0.21300	-0.801000	0.04550	-0.367000	0.08052	0.231000	0.17811	TTG		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		52	131	0	0	0	0.00361	0	52	131				
MAGEA11	4110	broad.mit.edu	37	X	148797683	148797683	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:148797683C>A	ENST00000355220.5	+	5	639	c.537C>A	c.(535-537)tcC>tcA	p.S179S	MAGEA11_ENST00000333104.4_Silent_p.S150S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	179						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGAAGAGTCCTTCTCTCCCA	0.562																																							uc004fdq.2		NA																	0				ovary(2)	2						c.(535-537)TCC>TCA		melanoma antigen family A, 11 isoform a							62.0	54.0	57.0					X																	148797683		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148797683C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.537C>A	X.37:g.148797683C>A						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.S150S	p.S179S	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	639	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		179					Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.537C>A	CCDS48180.1																																																																																				0.562	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		16	29	1	0	2.35188e-11	0.006122	3.27673e-11	16	29				
MAMLD1	10046	broad.mit.edu	37	X	149638775	149638775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:149638775G>T	ENST00000370401.2	+	4	1240	c.930G>T	c.(928-930)ttG>ttT	p.L310F	MAMLD1_ENST00000432680.2_Missense_Mutation_p.L285F|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L310F|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L285F|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	310					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGCGTTGGCAGCCAGCA	0.637																																							uc004fee.1		NA																	0					0						c.(928-930)TTG>TTT		mastermind-like domain containing 1							80.0	57.0	65.0					X																	149638775		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638775G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.930G>T	X.37:g.149638775G>T	ENSP00000359428:p.Leu310Phe					MAMLD1_uc011mxt.1_Missense_Mutation_p.L272F|MAMLD1_uc011mxu.1_Missense_Mutation_p.L285F|MAMLD1_uc011mxv.1_Missense_Mutation_p.L285F|MAMLD1_uc011mxw.1_Missense_Mutation_p.L237F	p.L310F	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		310					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.930G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656790	0.47467	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.72942	-0.29;-0.7;-0.29;-0.3	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000032	D	0.82930	0.5144	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.998;0.997	T	0.83154	-0.0102	9	.	.	.	-18.309	17.8296	0.88677	0.0:0.0:1.0:0.0	.	272;285;285;310	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	F	272;310;285;310;285	ENSP00000359428:L310F;ENSP00000414517:L285F;ENSP00000262858:L310F;ENSP00000397438:L285F	.	L	+	3	2	MAMLD1	149389433	1.000000	0.71417	0.989000	0.46669	0.152000	0.21847	2.322000	0.43814	2.141000	0.66446	0.600000	0.82982	TTG		0.637	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		14	41	1	0	4.36969e-10	0.001855	5.83435e-10	14	41				
MAMLD1	10046	broad.mit.edu	37	X	149639337	149639337	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:149639337C>A	ENST00000370401.2	+	4	1802	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q473K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q498K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q473K|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	498	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					gcagcagcagcagcagcagca	0.547																																							uc004fee.1		NA																	0					0						c.(1492-1494)CAG>AAG		mastermind-like domain containing 1							43.0	42.0	42.0					X																	149639337		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639337C>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1492C>A	X.37:g.149639337C>A	ENSP00000359428:p.Gln498Lys					MAMLD1_uc011mxt.1_Missense_Mutation_p.Q460K|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q473K|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q473K|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q425K	p.Q498K	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1568	+	Acute lymphoblastic leukemia(192;6.56e-05)		498			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1492C>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	2.623	-0.288040	0.05605	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.24	3.38	0.38709	.	0.573512	0.14585	N	0.310604	T	0.61337	0.2339	M	0.66939	2.045	0.20074	N	0.999936	B;B;P	0.36837	0.341;0.341;0.571	B;B;B	0.39027	0.167;0.152;0.288	T	0.48127	-0.9062	10	0.18276	T	0.48	-0.6792	7.1429	0.25566	0.0:0.8733:0.0:0.1267	.	473;473;498	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	K	498;473;498;473	ENSP00000359428:Q498K;ENSP00000414517:Q473K;ENSP00000262858:Q498K;ENSP00000397438:Q473K	ENSP00000262858:Q498K	Q	+	1	0	MAMLD1	149389995	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.883000	0.39658	0.821000	0.34540	-0.296000	0.09543	CAG		0.547	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		11	37	1	0	0.00829132	0.008291	0.00870166	11	37				
GABRQ	55879	broad.mit.edu	37	X	151814002	151814002	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:151814002G>T	ENST00000370306.2	+	3	273	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	85					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|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)	CCCTGTGCCTGTGAGAATATC	0.443																																							uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(253-255)GTG>TTG		gamma-aminobutyric acid (GABA) receptor, theta							165.0	129.0	141.0					X																	151814002		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151814002G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.253G>T	X.37:g.151814002G>T	ENSP00000359329:p.Val85Leu						p.V85L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			3	273	+	Acute lymphoblastic leukemia(192;6.56e-05)		85			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.253G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	g	13.15	2.151374	0.38021	.	.	ENSG00000147402	ENST00000370306	D	0.86956	-2.19	4.01	3.15	0.36227	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.41500	D	0.000868	D	0.91369	0.7277	M	0.90425	3.115	0.37279	D	0.907764	D	0.57257	0.979	P	0.53593	0.73	D	0.92674	0.6152	10	0.87932	D	0	.	8.9451	0.35753	0.1152:0.0:0.8848:0.0	.	85	Q9UN88	GBRT_HUMAN	L	85	ENSP00000359329:V85L	ENSP00000359329:V85L	V	+	1	0	GABRQ	151564658	1.000000	0.71417	0.011000	0.14972	0.006000	0.05464	5.110000	0.64622	1.037000	0.40024	0.509000	0.49947	GTG		0.443	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		20	49	1	0	3.62473e-10	0.001882	4.8622e-10	20	49				
ZNF275	10838	broad.mit.edu	37	X	152612745	152612745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:152612745G>T	ENST00000421401.3	+	4	779	c.602G>T	c.(601-603)aGg>aTg	p.R201M	ZNF275_ENST00000370249.2_Missense_Mutation_p.R148M|ZNF275_ENST00000370251.3_Missense_Mutation_p.R201M|ZNF275_ENST00000440091.1_Missense_Mutation_p.R231M			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATCTGAGGGTCCACAGC	0.547																																							uc004fhg.1		NA																	0				ovary(1)	1						c.(601-603)AGG>ATG		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							111.0	118.0	116.0					X																	152612745		2200	4291	6491	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612745G>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.602G>T	X.37:g.152612745G>T	ENSP00000398977:p.Arg201Met					ZNF275_uc011mym.1_Missense_Mutation_p.R201M|ZNF275_uc011myn.1_Missense_Mutation_p.R138M	p.R201M			A6NFS0	A6NFS0_HUMAN			4	779	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		201					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.602G>T		.	.	.	.	.	.	.	.	.	.	G	12.95	2.092862	0.36952	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.62	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165061	0.28688	N	0.014462	T	0.29355	0.0731	M	0.76574	2.34	0.27552	N	0.950469	P;P	0.52061	0.786;0.95	B;B	0.42851	0.228;0.4	T	0.34650	-0.9820	10	0.62326	D	0.03	-40.1986	9.3291	0.38010	0.1104:0.0:0.8896:0.0	.	201;201	Q9NSD4;A6NFS0	ZN275_HUMAN;.	M	201;201;231;148	ENSP00000359271:R201M;ENSP00000398977:R201M;ENSP00000411097:R231M;ENSP00000359269:R148M	ENSP00000359269:R148M	R	+	2	0	ZNF275	152265939	0.000000	0.05858	0.998000	0.56505	0.279000	0.26890	0.248000	0.18198	2.271000	0.75665	0.513000	0.50165	AGG		0.547	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		41	52	1	0	2.13384e-23	0.00361	3.80816e-23	41	52				
BCAP31	10134	broad.mit.edu	37	X	152981071	152981071	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:152981071C>T	ENST00000345046.6	-	4	674	c.267G>A	c.(265-267)atG>atA	p.M89I	BCAP31_ENST00000458587.2_Missense_Mutation_p.M156I|BCAP31_ENST00000441714.1_Missense_Mutation_p.M89I|BCAP31_ENST00000468947.1_5'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	89					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGCTCCATGGCCCCGG	0.552																																							uc011myz.1		NA																	0					0						c.(265-267)ATG>ATA		B-cell receptor-associated protein 31 isoform b							176.0	132.0	147.0					X																	152981071		2203	4300	6503	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152981071C>T	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.267G>A	X.37:g.152981071C>T	ENSP00000343458:p.Met89Ile					BCAP31_uc011myy.1_Missense_Mutation_p.M1I|BCAP31_uc004fid.2_Missense_Mutation_p.M156I|BCAP31_uc011mza.1_Missense_Mutation_p.M89I|BCAP31_uc004fie.2_Missense_Mutation_p.M89I	p.M89I	NM_001139441	NP_001132913	P51572	BAP31_HUMAN			4	423	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		89			Lumenal (Potential).		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.267G>A	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646523	0.29246	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.328563	0.40385	N	0.001114	T	0.27559	0.0677	N	0.05441	-0.05	0.42444	D	0.992725	B;B	0.12013	0.002;0.005	B;B	0.15484	0.002;0.013	T	0.18871	-1.0323	9	0.18276	T	0.48	-12.6865	6.3799	0.21529	0.1835:0.7222:0.0:0.0942	.	89;156	P51572;B3KQ79	BAP31_HUMAN;.	I	89;89;156;156;89;89;89;89;89	.	ENSP00000343458:M89I	M	-	3	0	BCAP31	152634265	0.999000	0.42202	0.984000	0.44739	0.981000	0.71138	0.531000	0.23052	2.252000	0.74401	0.468000	0.43344	ATG		0.552	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		26	56	0	0	0	0.00333	0	26	56				
PLXNB3	5365	broad.mit.edu	37	X	153039404	153039404	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153039404T>G	ENST00000361971.5	+	20	3484	c.3370T>G	c.(3370-3372)Ttc>Gtc	p.F1124V	PLXNB3_ENST00000538776.1_Missense_Mutation_p.F777V|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.F1147V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.F734V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1124	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGGTCTTCTTCACCCTAGA	0.672																																							uc004fii.2		NA																	0				lung(1)	1						c.(3370-3372)TTC>GTC		plexin B3 isoform 1							52.0	53.0	52.0					X																	153039404		2202	4299	6501	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039404T>G	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3370T>G	X.37:g.153039404T>G	ENSP00000355378:p.Phe1124Val					PLXNB3_uc010nuk.2_Missense_Mutation_p.F1147V|PLXNB3_uc011mzd.1_Missense_Mutation_p.F763V|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	p.F1124V	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			20	3544	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1124			IPT/TIG 3.|Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3370T>G	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782169	0.49891	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.28	5.28	0.74379	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.118214	0.56097	D	0.000027	T	0.73426	0.3585	M	0.86502	2.82	0.46823	D	0.999212	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.76071	0.971;0.987;0.954	T	0.75218	-0.3395	10	0.35671	T	0.21	.	11.7566	0.51878	0.0:0.0:0.0:1.0	.	777;1147;1124	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	V	1147;1124;777;734	ENSP00000442736:F1147V;ENSP00000355378:F1124V;ENSP00000445569:F777V;ENSP00000441919:F734V	ENSP00000355378:F1124V	F	+	1	0	PLXNB3	152692598	1.000000	0.71417	0.995000	0.50966	0.086000	0.17979	2.627000	0.46469	1.760000	0.52011	0.430000	0.28490	TTC		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			13	61	0	0	0	0.003163	0	13	61				
L1CAM	3897	broad.mit.edu	37	X	153132121	153132121	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153132121C>A	ENST00000370060.1	-	19	2603	c.2414G>T	c.(2413-2415)gGc>gTc	p.G805V	L1CAM_ENST00000370055.1_Missense_Mutation_p.G800V|L1CAM_ENST00000543994.1_Missense_Mutation_p.G807V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G807V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G800V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G805V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G805V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	805	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTAGCCGATAGTGAC	0.612																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(2413-2415)GGC>GTC		L1 cell adhesion molecule isoform 1 precursor							97.0	79.0	85.0					X																	153132121		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132121C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2414G>T	X.37:g.153132121C>A	ENSP00000359077:p.Gly805Val					L1CAM_uc004fjc.2_Missense_Mutation_p.G805V|L1CAM_uc010nuo.2_Missense_Mutation_p.G800V	p.G805V	NM_000425	NP_000416	P32004	L1CAM_HUMAN			18	2522	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		805			Extracellular (Potential).|Fibronectin type-III 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2414G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939392	0.73557	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.16	5.16	0.70880	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.60248	0.2254	L	0.48986	1.54	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.997	D;D;D	0.83275	0.995;0.996;0.988	T	0.54390	-0.8301	10	0.09843	T	0.71	.	16.4577	0.84025	0.0:1.0:0.0:0.0	.	800;805;805	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	805;807;805;807;800;800;805	ENSP00000359077:G805V;ENSP00000438430:G807V;ENSP00000359074:G805V;ENSP00000439645:G807V;ENSP00000354712:G800V;ENSP00000359072:G800V;ENSP00000355380:G805V	ENSP00000355380:G805V	G	-	2	0	L1CAM	152785315	1.000000	0.71417	0.992000	0.48379	0.374000	0.29953	7.471000	0.80985	2.141000	0.66446	0.529000	0.55759	GGC		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		17	54	1	0	1.33834e-09	0.007413	1.76406e-09	17	54				
L1CAM	3897	broad.mit.edu	37	X	153132925	153132925	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153132925T>C	ENST00000370060.1	-	17	2212	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	L1CAM_ENST00000370055.1_Missense_Mutation_p.T670A|L1CAM_ENST00000543994.1_Missense_Mutation_p.T677A|L1CAM_ENST00000538883.1_Missense_Mutation_p.T677A|L1CAM_ENST00000361981.3_Missense_Mutation_p.T670A|L1CAM_ENST00000370057.3_Missense_Mutation_p.T675A|L1CAM_ENST00000361699.4_Missense_Mutation_p.T675A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	675	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGTGGTAGAGGTCTGG	0.512																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(2023-2025)ACC>GCC		L1 cell adhesion molecule isoform 1 precursor							159.0	143.0	148.0					X																	153132925		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132925T>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2023A>G	X.37:g.153132925T>C	ENSP00000359077:p.Thr675Ala					L1CAM_uc004fjc.2_Missense_Mutation_p.T675A|L1CAM_uc010nuo.2_Missense_Mutation_p.T670A	p.T675A	NM_000425	NP_000416	P32004	L1CAM_HUMAN			16	2131	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		675			Fibronectin type-III 1.|Extracellular (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2023A>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	T	1.487	-0.555677	0.03967	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.42	0.188	0.15114	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.483763	0.20714	N	0.087023	T	0.24275	0.0588	N	0.11427	0.14	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.002	T	0.29027	-1.0025	10	0.02654	T	1	.	8.8737	0.35332	0.0:0.4515:0.0:0.5485	.	670;675;675	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	A	675;677;675;677;670;670;675	ENSP00000359077:T675A;ENSP00000438430:T677A;ENSP00000359074:T675A;ENSP00000439645:T677A;ENSP00000354712:T670A;ENSP00000359072:T670A;ENSP00000355380:T675A	ENSP00000355380:T675A	T	-	1	0	L1CAM	152786119	0.006000	0.16342	0.851000	0.33527	0.965000	0.64279	0.179000	0.16840	-0.325000	0.08577	-0.424000	0.05967	ACC		0.512	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		39	139	0	0	0	0.009718	0	39	139				
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	A	rs139864308	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153247610G>A	ENST00000369982.4	+	2	844	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637																																							uc004fjq.2		NA																	0					0						c.(97-99)GTG>ATG		transmembrane protein 187							60.0	61.0	61.0					X																	153247610		2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247610G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.97G>A	X.37:g.153247610G>A	ENSP00000358999:p.Val33Met					hsa-mir-3202-2|MI0014253_5'Flank	p.V33M	NM_003492	NP_003483	Q14656	TM187_HUMAN			2	631	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		33					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.97G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008566	0.54361	.	.	ENSG00000177854	ENST00000369982;ENST00000425274;ENST00000431598	T;T	0.34275	1.37;1.37	4.27	-0.957	0.10350	.	0.962934	0.08356	U	0.958427	T	0.34308	0.0893	M	0.76002	2.32	0.09310	N	1	P	0.41624	0.757	B	0.33960	0.173	T	0.34254	-0.9836	10	0.72032	D	0.01	.	9.3406	0.38079	0.7024:0.0:0.2976:0.0	.	33	Q14656	TM187_HUMAN	M	33	ENSP00000358999:V33M;ENSP00000390108:V33M	ENSP00000358999:V33M	V	+	1	0	TMEM187	152900804	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.290000	0.18975	-0.129000	0.11620	0.436000	0.28706	GTG		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		20	58	0	0	0	0.00278	0	20	58				
GDI1	2664	broad.mit.edu	37	X	153670947	153670947	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153670947G>T	ENST00000447750.2	+	11	1607	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	FAM50A_ENST00000393600.3_5'Flank|GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	424					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAAACGCATGGCTGGCACGG	0.547																																							uc004fli.3		NA																	0					0						c.(1270-1272)ATG>ATT		GDP dissociation inhibitor 1							174.0	137.0	150.0					X																	153670947		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670947G>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1272G>T	X.37:g.153670947G>T	ENSP00000394071:p.Met424Ile					GDI1_uc004flj.2_Missense_Mutation_p.M89I|FAM50A_uc004fll.3_5'Flank	p.M424I	NM_001493	NP_001484	P31150	GDIA_HUMAN			11	1614	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		424					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.1272G>T	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	0.944	-0.708684	0.03230	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.74421	-0.84	5.24	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	N	0.00869	-1.13	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.50491	-0.8822	10	0.02654	T	1	-23.834	11.8912	0.52630	0.0:0.1731:0.8269:0.0	.	424	P31150	GDIA_HUMAN	I	424;394	ENSP00000394071:M424I	ENSP00000358756:M394I	M	+	3	0	GDI1	153324141	1.000000	0.71417	0.987000	0.45799	0.246000	0.25737	9.548000	0.98103	2.166000	0.68216	0.600000	0.82982	ATG		0.547	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		19	79	1	0	1.40151e-16	0.010504	2.23312e-16	19	79				
F8	2157	broad.mit.edu	37	X	154157794	154157794	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:154157794G>T	ENST00000360256.4	-	14	4471	c.4271C>A	c.(4270-4272)aCc>aAc	p.T1424N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1424	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGGACCCTGGTCAGATATAT	0.418																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4270-4272)ACC>AAC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						119.0	114.0	116.0					X																	154157794		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157794G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4271C>A	X.37:g.154157794G>T	ENSP00000353393:p.Thr1424Asn						p.T1424N	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4442	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1424			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4271C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	4.434	0.080396	0.08533	.	.	ENSG00000185010	ENST00000360256	D	0.99070	-5.39	5.67	-1.87	0.07737	.	0.547901	0.17713	N	0.164530	D	0.96361	0.8813	M	0.70595	2.14	0.09310	N	1	P	0.34462	0.454	B	0.32677	0.15	D	0.91477	0.5201	10	0.23302	T	0.38	-0.0071	1.2873	0.02053	0.4541:0.1933:0.2057:0.1469	.	1424	P00451	FA8_HUMAN	N	1424	ENSP00000353393:T1424N	ENSP00000353393:T1424N	T	-	2	0	F8	153810988	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.534000	0.06150	-0.389000	0.07786	-0.196000	0.12772	ACC		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			44	74	1	0	6.07928e-31	0.009718	1.13406e-30	44	74				
RAB39B	116442	broad.mit.edu	37	X	154493454	154493454	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:154493454G>T	ENST00000369454.3	-	1	420	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	40					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACCCCCACGGTGGGGTCAG	0.592																																							uc004fne.2		NA																	0					0						c.(118-120)ACC>ACA		RAB39B, member RAS oncogene family							82.0	79.0	80.0					X																	154493454		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154493454G>T	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.120C>A	X.37:g.154493454G>T							p.T40T	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	399	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		40			Effector region (By similarity).		Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.120C>A	CCDS14766.1																																																																																				0.592	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		29	53	1	0	8.58068e-18	0.007291	1.40287e-17	29	53				
AK4	205	broad.mit.edu	37	1	65614125	65614132	+	Frame_Shift_Del	DEL	GGCCGCCC	GGCCGCCC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GGCCGCCC	GGCCGCCC	-	-	GGCCGCCC	GGCCGCCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:65614125_65614132delGGCCGCCC	ENST00000327299.7	+	1	240_247	c.35_42delGGCCGCCC	c.(34-42)gggccgcccfs	p.GPP12fs	AK4_ENST00000546702.1_Intron|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000545314.1_Frame_Shift_Del_p.GPP12fs|AK4_ENST00000395334.2_Frame_Shift_Del_p.GPP12fs	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GTCATCCTCGGGCCGCCCGGCTCGGGCA	0.688																																							uc001dby.2		NA																	0					0						c.(34-42)GGGCCGCCCfs		adenylate kinase 3-like 1 isoform 7																																				SO:0001589	frameshift_variant	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65614125_65614132delGGCCGCCC	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.35_42delGGCCGCCC	1.37:g.65614125_65614132delGGCCGCCC	ENSP00000322175:p.Gly12fs					AK3L1_uc009wan.2_Intron|AK3L1_uc001dbz.2_Frame_Shift_Del_p.G12fs|AK3L1_uc001dca.2_Frame_Shift_Del_p.G12fs	p.G12fs	NM_203464	NP_982289	P27144	KAD4_HUMAN			2	282_289	+			12_14			ATP.			Frame_Shift_Del	DEL	ENST00000327299.7	37	c.35_42delGGCCGCCC	CCDS629.1																																																																																				0.688	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		4	4	NA	NA	NA	NA	NA	4	4	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79120772	79120773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:79120772_79120773insT	ENST00000370747.4	+	4	653_654	c.568_569insT	c.(568-570)ctgfs	p.L190fs	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	190					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATACGAATTCTGCTGCTGGGT	0.455																																							uc001dip.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(568-570)CTGfs		interferon-induced, hepatitis C-associated																																				SO:0001589	frameshift_variant	10561				response to virus	cytoplasm		g.chr1:79120772_79120773insT	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.569dupT	1.37:g.79120773_79120773dupT	ENSP00000359783:p.Leu190fs					IFI44_uc010orr.1_Frame_Shift_Ins_p.L190fs|IFI44_uc010ors.1_5'UTR	p.L190fs	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			4	692_693	+			190					B7ZAG3|D3DQ80|Q14496	Frame_Shift_Ins	INS	ENST00000370747.4	37	c.568_569insT	CCDS688.1																																																																																				0.455	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		21	44	NA	NA	NA	NA	NA	21	44	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153656220	153656220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:153656220delC	ENST00000368680.3	+	7	1876	c.1404delC	c.(1402-1404)cacfs	p.H468fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	468					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ctGCAGATCACCTTTCCACCC	0.507																																					Pancreas(141;1349 1870 15144 15830 40702)	Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3		NA																	0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1402-1404)CACfs		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						103.0	95.0	98.0					1																	153656220		2203	4300	6503	SO:0001589	frameshift_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153656220delC	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1404delC	1.37:g.153656220delC	ENSP00000357669:p.His468fs					NPR1_uc010pdz.1_Frame_Shift_Del_p.H214fs|NPR1_uc010pea.1_5'Flank	p.H468fs	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1825	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		468			Extracellular (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Del	DEL	ENST00000368680.3	37	c.1404delC	CCDS1051.1																																																																																				0.507	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		30	59	NA	NA	NA	NA	NA	30	59	---	---	---	---
RAB25	57111	broad.mit.edu	37	1	156039504	156039507	+	Frame_Shift_Del	DEL	CTAC	CTAC	-	rs571452256	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CTAC	CTAC	-	-	CTAC	CTAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:156039504_156039507delCTAC	ENST00000361084.5	+	4	717_720	c.476_479delCTAC	c.(475-480)tctaccfs	p.ST159fs	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	159					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTGGACTCTACCAATGTTGAG	0.471																																							uc001fnc.2		NA																	0					0						c.(475-480)TCTACCfs		RAB25																																				SO:0001589	frameshift_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156039504_156039507delCTAC	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.476_479delCTAC	1.37:g.156039504_156039507delCTAC	ENSP00000354376:p.Ser159fs						p.S159fs	NM_020387	NP_065120	P57735	RAB25_HUMAN			4	702_705	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		159_160					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Frame_Shift_Del	DEL	ENST00000361084.5	37	c.476_479delCTAC	CCDS41413.1																																																																																				0.471	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			151	220	NA	NA	NA	NA	NA	151	220	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237796954	237796954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:237796954delA	ENST00000366574.2	+	43	6949	c.6632delA	c.(6631-6633)caafs	p.Q2211fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q2209fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q2195fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2211	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCAGAATCAAAAAGCTATG	0.358																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6631-6633)CAAfs		cardiac muscle ryanodine receptor							179.0	169.0	172.0					1																	237796954		1848	4100	5948	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796954delA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6632delA	1.37:g.237796954delA	ENSP00000355533:p.Gln2211fs						p.Q2211fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6752	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2211			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.6632delA	CCDS55691.1																																																																																				0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	83	NA	NA	NA	NA	NA	20	83	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248738019	248738019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248738019delT	ENST00000328782.2	-	1	61	c.40delA	c.(40-42)agcfs	p.S14fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	14						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(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGTGCTTGCTGTTTGA	0.463																																							uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(40-42)AGCfs		olfactory receptor, family 2, subfamily T,							34.0	47.0	43.0					1																	248738019		2063	4259	6322	SO:0001589	frameshift_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738019delT	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.40delA	1.37:g.248738019delT	ENSP00000330904:p.Ser14fs						p.S14fs	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	40	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		14			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	ENST00000328782.2	37	c.40delA	CCDS31120.1																																																																																				0.463	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		9	49	NA	NA	NA	NA	NA	9	49	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117027900	117027900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:117027900delG	ENST00000355044.3	+	13	2205	c.2079delG	c.(2077-2079)tcgfs	p.S693fs		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	693	PSI 2.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATGCATTTCGGCAAATAGTA	0.403																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2077-2079)TCGfs		attractin-like 1 precursor							222.0	212.0	215.0					10																	117027900		2203	4300	6503	SO:0001589	frameshift_variant	26033					integral to membrane	sugar binding	g.chr10:117027900delG	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2079delG	10.37:g.117027900delG	ENSP00000347152:p.Ser693fs						p.S693fs	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	13	2465	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	693			PSI 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	37	c.2079delG	CCDS7592.1																																																																																				0.403	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		15	56	NA	NA	NA	NA	NA	15	56	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411649	51411650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:51411649_51411650insA	ENST00000319760.6	-	1	798_799	c.746_747insT	c.(745-747)gtafs	p.V249fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAATACAGGGTACAAAAAAGAG	0.406																																							uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(745-747)GTAfs		olfactory receptor, family 4, subfamily A,																																				SO:0001589	frameshift_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411649_51411650insA	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.747dupT	11.37:g.51411650_51411650dupA	ENSP00000367664:p.Val249fs						p.V249fs	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	746_747	-		all_lung(304;0.236)	249			Helical; Name=6; (Potential).		Q6IF84	Frame_Shift_Ins	INS	ENST00000319760.6	37	c.746_747insT	CCDS31497.1																																																																																				0.406	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		25	47	NA	NA	NA	NA	NA	25	47	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56114033	56114035	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56114033_56114035delCTT	ENST00000279783.2	+	1	613_615	c.519_521delCTT	c.(517-522)tccttc>tcc	p.F174del		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTAAACTGTCCTTCTGTGGCTCA	0.355										HNSCC(65;0.19)																													uc010rjg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(517-522)TCCTTC>TCC		olfactory receptor, family 8, subfamily K,																																				SO:0001651	inframe_deletion	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114033_56114035delCTT	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.519_521delCTT	11.37:g.56114033_56114035delCTT	ENSP00000279783:p.Phe174del	HNSCC(65;0.19)					p.F174del	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	519_521	+	Esophageal squamous(21;0.00448)		174			Extracellular (Potential).		B9EJB1|Q6IFC3|Q96RC1	In_Frame_Del	DEL	ENST00000279783.2	37	c.519_521delCTT	CCDS31528.1																																																																																				0.355	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		21	79	NA	NA	NA	NA	NA	21	79	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13211385	13211386	+	Splice_Site	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13211385_13211386insT	ENST00000197268.8	+	3	554_555	c.434_435insT	c.(433-438)ggtggg>ggTtggg	p.G146fs		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	146						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)		TGTATAACAGGTGGGGACCTGT	0.475																																							uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(433-435)GGTfs		hypothetical protein LOC57613																																				SO:0001630	splice_region_variant	57613					integral to membrane		g.chr12:13211385_13211386insT	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		ENST00000197268.8:c.434-1->T	12.37:g.13211386_13211386dupT						KIAA1467_uc009zhx.1_RNA	p.G145fs	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	3	457_458	+		Prostate(47;0.184)	145					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Frame_Shift_Ins	INS	ENST00000197268.8	37	c.434_435insT	CCDS31750.1																																																																																				0.475	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Frame_Shift_Ins	79	275	NA	NA	NA	NA	NA	79	275	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13720177	13720177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13720177delC	ENST00000609686.1	-	12	2589	c.2380delG	c.(2380-2382)gctfs	p.A794fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	794					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCCAGAGAGCTTCCAGTTCT	0.488																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2380-2382)GCTfs		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						70.0	68.0	69.0					12																	13720177		2203	4300	6503	SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720177delC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2380delG	12.37:g.13720177delC	ENSP00000477455:p.Ala794fs						p.A794fs	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2559	-			794			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Del	DEL	ENST00000609686.1	37	c.2380delG	CCDS8662.1																																																																																				0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			25	23	NA	NA	NA	NA	NA	25	23	---	---	---	---
LIN7A	8825	broad.mit.edu	37	12	81239540	81239540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:81239540delC	ENST00000552864.1	-	4	654	c.452delG	c.(451-453)agafs	p.R151fs		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	151	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTGGTCTCCTCTTTTGAGGCC	0.428																																							uc001szj.1		NA																	0				ovary(1)|skin(1)	2						c.(451-453)AGAfs		lin-7 homolog A							76.0	76.0	76.0					12																	81239540		2203	4300	6503	SO:0001589	frameshift_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81239540delC	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.452delG	12.37:g.81239540delC	ENSP00000447488:p.Arg151fs					LIN7A_uc001szk.1_RNA	p.R151fs	NM_004664	NP_004655	O14910	LIN7A_HUMAN			4	645	-			151			PDZ.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Frame_Shift_Del	DEL	ENST00000552864.1	37	c.452delG	CCDS9021.1																																																																																				0.428	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			32	48	NA	NA	NA	NA	NA	32	48	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111757899	111757899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:111757899delA	ENST00000261726.6	+	17	2240	c.2086delA	c.(2086-2088)atcfs	p.I696fs		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	696					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCAAGAGCATCCTGGAGCA	0.726																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2086-2088)ATCfs		cut-like 2							4.0	5.0	4.0					12																	111757899		1911	3939	5850	SO:0001589	frameshift_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111757899delA	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2086delA	12.37:g.111757899delA	ENSP00000261726:p.Ile696fs						p.I696fs	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2239	+			696			Potential.		A7E2Y4	Frame_Shift_Del	DEL	ENST00000261726.6	37	c.2086delA	CCDS41837.1																																																																																				0.726	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25009604	25009605	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:25009604_25009605insA	ENST00000381989.3	-	31	3779_3780	c.3674_3675insT	c.(3673-3675)ttafs	p.L1225fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1225					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGGATGCTAAAAGAGACTG	0.376																																							uc001upl.2		NA																	0				ovary(3)|skin(1)	4						c.(3673-3675)TTAfs		poly (ADP-ribose) polymerase family, member 4																																				SO:0001589	frameshift_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25009604_25009605insA	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3675dupT	13.37:g.25009608_25009608dupA	ENSP00000371419:p.Leu1225fs						p.L1225fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	3780_3781	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1225					O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Ins	INS	ENST00000381989.3	37	c.3674_3675insT	CCDS9307.1																																																																																				0.376	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		11	63	NA	NA	NA	NA	NA	11	63	---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49710605	49710605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:49710605delA	ENST00000492622.2	+	6	933	c.628delA	c.(628-630)aaafs	p.K210fs	FNDC3A_ENST00000398316.3_Frame_Shift_Del_p.K154fs|FNDC3A_ENST00000541916.1_Frame_Shift_Del_p.K210fs	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	210					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCACCCCAGAAATGCCCTTC	0.393																																							uc001vcm.2		NA																	0				lung(2)	2						c.(628-630)AAAfs		fibronectin type III domain containing 3A							113.0	110.0	111.0					13																	49710605		2203	4300	6503	SO:0001589	frameshift_variant	22862					Golgi membrane|integral to membrane		g.chr13:49710605delA	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.628delA	13.37:g.49710605delA	ENSP00000417257:p.Lys210fs					FNDC3A_uc001vcl.1_Frame_Shift_Del_p.K210fs|FNDC3A_uc001vcn.2_Frame_Shift_Del_p.K210fs|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Frame_Shift_Del_p.K154fs|FNDC3A_uc001vcq.2_Frame_Shift_Del_p.K154fs	p.K210fs	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	6	933	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	210					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Frame_Shift_Del	DEL	ENST00000492622.2	37	c.628delA	CCDS41886.1																																																																																				0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		47	39	NA	NA	NA	NA	NA	47	39	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50952308	50952308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:50952308delC	ENST00000013125.4	-	5	628	c.310delG	c.(310-312)gatfs	p.D104fs	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGGTAAATATCTTGAAGTGAT	0.299																																							uc001wya.2		NA																	0				large_intestine(1)	1						c.(310-312)GATfs		mitogen-activated protein kinase kinase kinase							80.0	73.0	75.0					14																	50952308		1820	4047	5867	SO:0001589	frameshift_variant	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50952308delC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.310delG	14.37:g.50952308delC	ENSP00000013125:p.Asp104fs					MAP4K5_uc001wyb.2_Frame_Shift_Del_p.D104fs|MAP4K5_uc010anv.1_Frame_Shift_Del_p.D104fs	p.D104fs	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			5	630	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		104			Protein kinase.		Q8IYF6	Frame_Shift_Del	DEL	ENST00000013125.4	37	c.310delG																																																																																					0.299	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MGA	23269	broad.mit.edu	37	15	41961546	41961547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41961546_41961547insT	ENST00000570161.1	+	1	454_455	c.454_455insT	c.(454-456)gttfs	p.V152fs	MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Frame_Shift_Ins_p.V152fs|MGA_ENST00000545763.1_Frame_Shift_Ins_p.V152fs|MGA_ENST00000389936.4_Frame_Shift_Ins_p.V152fs|MGA_ENST00000566586.1_Frame_Shift_Ins_p.V152fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAACCTCATGTTTTGGGGAGG	0.401																																							uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(454-456)GTTfs		MAX-interacting protein isoform 2																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961546_41961547insT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.458dupT	15.37:g.41961550_41961550dupT	ENSP00000457035:p.Val152fs					MGA_uc010ucy.1_Frame_Shift_Ins_p.V152fs|MGA_uc010ucz.1_Frame_Shift_Ins_p.V152fs	p.V152fs	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	545_546	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	152			T-box.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	ENST00000570161.1	37	c.454_455insT	CCDS55959.1																																																																																				0.401	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		91	97	NA	NA	NA	NA	NA	91	97	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48434470	48434471	+	Frame_Shift_Ins	INS	-	-	A	rs181488402		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:48434470_48434471insA	ENST00000341459.3	+	9	1498_1499	c.1425_1426insA	c.(1426-1428)ttgfs	p.L476fs	MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Frame_Shift_Ins_p.L416fs|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	476					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATTATCATACTTGGGGCTTGC	0.337																																							uc001zwe.2		NA																	0					0						c.(1423-1428)TACTTGfs		solute carrier family 24, member 5 precursor																																				SO:0001589	frameshift_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434470_48434471insA	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	Exception_encountered	15.37:g.48434470_48434471insA	ENSP00000341550:p.Leu476fs					SLC24A5_uc010bel.2_Frame_Shift_Ins_p.Y415fs|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Frame_Shift_Ins_p.Y106fs	p.Y475fs	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1498_1499	+		all_lung(180;0.00217)	475_476			Helical; Name=11; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Frame_Shift_Ins	INS	ENST00000341459.3	37	c.1425_1426insA	CCDS10128.1																																																																																				0.337	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		34	25	NA	NA	NA	NA	NA	34	25	---	---	---	---
ALKBH6	84964	broad.mit.edu	37	19	36504245	36504245	+	Splice_Site	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:36504245delC	ENST00000252984.7	-	3	207		c.e3+1		ALKBH6_ENST00000378875.3_Splice_Site|ALKBH6_ENST00000485128.1_Splice_Site|AC002116.8_ENST00000473572.2_RNA|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000486389.1_Splice_Site			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTGACAACCTGCTCCACT	0.557																																							uc002oct.2		NA																	0					0						c.e2+1		alkB, alkylation repair homolog 6 isoform 2							138.0	118.0	125.0					19																	36504245		2203	4300	6503	SO:0001630	splice_region_variant	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36504245delC	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.54+1G>-	19.37:g.36504245delC						ALKBH6_uc002ocv.1_Splice_Site_p.Q46_splice|ALKBH6_uc002ocx.1_Splice_Site|ALKBH6_uc002ocw.1_Splice_Site_p.Q46_splice|ALKBH6_uc010eeo.1_Splice_Site_p.Q18_splice|ALKBH6_uc010eep.1_Splice_Site_p.Q46_splice|uc002ocy.2_5'Flank	p.Q18_splice	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	154	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)							A5LGM8|A6NLP1|A8MU96	Splice_Site	DEL	ENST00000252984.7	37	c.54_splice																																																																																					0.557	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878	Intron	26	47	NA	NA	NA	NA	NA	26	47	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28766124	28766125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:28766124_28766125insG	ENST00000327757.5	+	14	969_970	c.925_926insG	c.(925-927)tggfs	p.W309fs	PLB1_ENST00000422425.2_Frame_Shift_Ins_p.W320fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGGCATCTCTGGAATAGGATG	0.614																																							uc002rmb.1		NA																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(925-927)TGGfs		phospholipase B1 precursor																																				SO:0001589	frameshift_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28766124_28766125insG		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.927dupG	2.37:g.28766126_28766126dupG	ENSP00000330442:p.Trp309fs					PLB1_uc010ezj.1_Frame_Shift_Ins_p.W320fs	p.W309fs	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			14	925_926	+	Acute lymphoblastic leukemia(172;0.155)		309			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Ins	INS	ENST00000327757.5	37	c.925_926insG	CCDS33168.1																																																																																				0.614	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			7	17	NA	NA	NA	NA	NA	7	17	---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29386781	29386782	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:29386781_29386782delCA	ENST00000320081.5	+	13	1874_1875	c.1619_1620delCA	c.(1618-1620)ccafs	p.P540fs	CLIP4_ENST00000401617.2_Frame_Shift_Del_p.P433fs|CLIP4_ENST00000401605.1_Frame_Shift_Del_p.P540fs|CLIP4_ENST00000404424.1_Frame_Shift_Del_p.P540fs	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	540	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCTGTTCTCCAAGATATGGAA	0.371																																							uc002rmv.2		NA																	0				ovary(1)	1						c.(1618-1620)CCAfs		CAP-GLY domain containing linker protein family,																																				SO:0001589	frameshift_variant	79745							g.chr2:29386781_29386782delCA	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1619_1620delCA	2.37:g.29386781_29386782delCA	ENSP00000327009:p.Pro540fs					CLIP4_uc002rmu.2_Frame_Shift_Del_p.P540fs|CLIP4_uc002rmw.2_RNA	p.P540fs	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			13	1858_1859	+	Acute lymphoblastic leukemia(172;0.155)		540			CAP-Gly 2.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Frame_Shift_Del	DEL	ENST00000320081.5	37	c.1619_1620delCA	CCDS1770.1																																																																																				0.371	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		19	106	NA	NA	NA	NA	NA	19	106	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85531103	85531103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:85531103delC	ENST00000282111.3	+	6	1019	c.744delC	c.(742-744)ctcfs	p.L248fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	248	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCACCCCCTCGGCTGGCTCG	0.647																																							uc002soy.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(742-744)CTCfs		HMG-box transcription factor TCF-3							84.0	81.0	82.0					2																	85531103		2203	4300	6503	SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85531103delC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.744delC	2.37:g.85531103delC	ENSP00000282111:p.Leu248fs						p.L248fs	NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN			6	818	+			248			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	ENST00000282111.3	37	c.744delC	CCDS1971.1																																																																																				0.647	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		24	55	NA	NA	NA	NA	NA	24	55	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103124574	103124574	+	Frame_Shift_Del	DEL	G	G	-	rs370821670		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:103124574delG	ENST00000295269.4	+	5	1692	c.1235delG	c.(1234-1236)cggfs	p.R412fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	412					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACCAGTTTCGGACTTTCCCC	0.448																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1234-1236)CGGfs		solute carrier family 9 (sodium/hydrogen							167.0	167.0	167.0					2																	103124574		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103124574delG		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1235delG	2.37:g.103124574delG	ENSP00000295269:p.Arg412fs						p.R412fs	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			5	1692	+			412			Extracellular (Potential).		Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.1235delG	CCDS33264.1																																																																																				0.448	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		29	115	NA	NA	NA	NA	NA	29	115	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155102404	155102404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:155102404delG	ENST00000392825.3	+	7	1333	c.766delG	c.(766-768)gggfs	p.G257fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.G257fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	257					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATGACTTATGGGGGTTTTAA	0.413																																							uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(766-768)GGGfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							109.0	107.0	108.0					2																	155102404		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102404delG	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.766delG	2.37:g.155102404delG	ENSP00000376570:p.Gly257fs					GALNT13_uc002tyt.3_Frame_Shift_Del_p.G256fs|GALNT13_uc010foc.1_Frame_Shift_Del_p.G75fs|GALNT13_uc010fod.2_Frame_Shift_Del_p.G9fs	p.G256fs	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			7	1333	+			256			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.766delG	CCDS2199.1																																																																																				0.413	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		26	71	NA	NA	NA	NA	NA	26	71	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196825599	196825600	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:196825599_196825600insT	ENST00000312428.6	-	18	2375_2376	c.2275_2276insA	c.(2275-2277)atcfs	p.I759fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	759	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCATCTTGGATTTTTTTACGT	0.366																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2275-2277)ATCfs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825599_196825600insT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2276dupA	2.37:g.196825606_196825606dupT	ENSP00000311273:p.Ile759fs						p.I759fs	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2376_2377	-			759			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.2275_2276insA	CCDS42794.1																																																																																				0.366	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	88	NA	NA	NA	NA	NA	18	88	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7895047	7895048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:7895047_7895048insG	ENST00000378789.3	-	3	359_360	c.308_309insC	c.(307-309)acgfs	p.T103fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	103	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATCATGCCCGTTCCCAGGGA	0.51																																							uc002wmw.1		NA																	0				ovary(3)	3						c.(307-309)ACGfs		hydroxyacid oxidase 1																																				SO:0001589	frameshift_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7895047_7895048insG	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.309dupC	20.37:g.7895048_7895048dupG	ENSP00000368066:p.Thr103fs					HAO1_uc010gbu.2_Frame_Shift_Ins_p.T103fs	p.T103fs	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			3	332_333	-			103			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Frame_Shift_Ins	INS	ENST00000378789.3	37	c.308_309insC	CCDS13100.1																																																																																				0.510	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			8	17	NA	NA	NA	NA	NA	8	17	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60887362	60887363	+	Frame_Shift_Del	DEL	GC	GC	-	rs377731667		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:60887362_60887363delGC	ENST00000252999.3	-	69	9436_9437	c.9370_9371delGC	c.(9370-9372)gccfs	p.A3124fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3124	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAAGTCATGGCGCGCCCCACC	0.693																																							uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(9370-9372)GCCfs		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887362_60887363delGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9370_9371delGC	20.37:g.60887366_60887367delGC	ENSP00000252999:p.Ala3124fs						p.A3124fs	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9437_9438	-	Breast(26;1.57e-08)		3124			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	ENST00000252999.3	37	c.9370_9371delGC	CCDS33502.1																																																																																				0.693	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		7	18	NA	NA	NA	NA	NA	7	18	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50553643	50553643	+	Frame_Shift_Del	DEL	A	A	-	rs200235755		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:50553643delA	ENST00000262794.5	+	8	1310	c.1227delA	c.(1225-1227)ggafs	p.G409fs	MOV10L1_ENST00000545383.1_Frame_Shift_Del_p.G409fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Frame_Shift_Del_p.G409fs|MOV10L1_ENST00000540615.1_Frame_Shift_Del_p.G389fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	409					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTCCAGGGGGAAAAACCTTCA	0.483																																							uc003bjj.2		NA																	0				ovary(2)|skin(1)	3						c.(1225-1227)GGAfs		MOV10-like 1 isoform 1							103.0	118.0	113.0					22																	50553643		2203	4300	6503	SO:0001589	frameshift_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553643delA	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1227delA	22.37:g.50553643delA	ENSP00000262794:p.Gly409fs					MOV10L1_uc003bjk.3_Frame_Shift_Del_p.G409fs|MOV10L1_uc011arp.1_Frame_Shift_Del_p.G389fs|MOV10L1_uc011arq.1_Frame_Shift_Del_p.G170fs|MOV10L1_uc010hao.1_RNA	p.G409fs	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	8	1310	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	409					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Frame_Shift_Del	DEL	ENST00000262794.5	37	c.1227delA	CCDS14084.1																																																																																				0.483	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		30	181	NA	NA	NA	NA	NA	30	181	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19295164	19295164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:19295164delC	ENST00000328405.2	+	2	361	c.95delC	c.(94-96)gccfs	p.A32fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	32	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTCATCCTTGCCAATGCCCAG	0.423																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(94-96)GCCfs		potassium voltage-gated channel, subfamily H,							160.0	161.0	161.0					3																	19295164		2203	4300	6503	SO:0001589	frameshift_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19295164delC	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.95delC	3.37:g.19295164delC	ENSP00000328813:p.Ala32fs					KCNH8_uc011awe.1_Frame_Shift_Del_p.A32fs|KCNH8_uc010hex.1_5'UTR	p.A32fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			2	290	+			32			Cytoplasmic (Potential).|PAS.		B7Z2I7|Q59GQ6	Frame_Shift_Del	DEL	ENST00000328405.2	37	c.95delC	CCDS2632.1																																																																																				0.423	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		59	41	NA	NA	NA	NA	NA	59	41	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44945424	44945425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:44945424_44945425insA	ENST00000296125.4	+	9	1088_1089	c.1020_1021insA	c.(1021-1023)aagfs	p.K341fs		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	341					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGGATCTGCCCAAGGGCTACGA	0.634																																							uc003coc.3		NA																	0				ovary(1)	1						c.(1018-1023)CCCAAGfs		transglutaminase 4 (prostate)	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44945424_44945425insA	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1022dupA	3.37:g.44945426_44945426dupA	ENSP00000296125:p.Lys341fs						p.P340fs	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	9	1093_1094	+			340_341					Q16707|Q96QN4	Frame_Shift_Ins	INS	ENST00000296125.4	37	c.1020_1021insA	CCDS2723.1																																																																																				0.634	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		54	36	NA	NA	NA	NA	NA	54	36	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128309	147128309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147128309delC	ENST00000282928.4	+	1	1139	c.410delC	c.(409-411)gccfs	p.A138fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	138					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A137E(1)|p.A137D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACACGGACGCCGCGGGCCAC	0.721																																							uc003ewe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(409-411)GCCfs		zinc finger protein of the cerebellum 1							10.0	14.0	13.0					3																	147128309		2179	4272	6451	SO:0001589	frameshift_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128309delC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.410delC	3.37:g.147128309delC	ENSP00000282928:p.Ala138fs						p.A137fs	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1129	+			137					Q2M3N1	Frame_Shift_Del	DEL	ENST00000282928.4	37	c.410delC	CCDS3136.1																																																																																				0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		19	10	NA	NA	NA	NA	NA	19	10	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189475	167189475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:167189475delG	ENST00000476257.1	-	3	446	c.148delC	c.(148-150)cttfs	p.L50fs	SERPINI2_ENST00000471111.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000264677.4_Frame_Shift_Del_p.L50fs			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	50					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTATTCCAAGGGGTGAAAAT	0.398																																							uc003fer.1		NA																	0				skin(2)|urinary_tract(1)	3						c.(148-150)CTTfs		serpin peptidase inhibitor, clade I (pancpin),							180.0	176.0	177.0					3																	167189475		2203	4300	6503	SO:0001589	frameshift_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189475delG	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.148delC	3.37:g.167189475delG	ENSP00000420621:p.Leu50fs					SERPINI2_uc003fes.1_Frame_Shift_Del_p.L60fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.L50fs	p.L50fs	NM_006217	NP_006208	O75830	SPI2_HUMAN			1	206	-			50						Frame_Shift_Del	DEL	ENST00000476257.1	37	c.148delC	CCDS3200.1																																																																																				0.398	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		49	89	NA	NA	NA	NA	NA	49	89	---	---	---	---
AMTN	401138	broad.mit.edu	37	4	71394929	71394930	+	Splice_Site	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:71394929_71394930insA	ENST00000339336.4	+	7	487		c.e7+2		AMTN_ENST00000504451.1_Splice_Site	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267																																							uc003hfk.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.e7+2		amelotin precursor				4,4186		0,4,2091						5.3	1.0			32	10,8130		0,10,4060	no	splice-5	AMTN	NM_212557.2		0,14,6151	A1A1,A1R,RR		0.1229,0.0955,0.1135				14,12316				SO:0001630	splice_region_variant	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71394929_71394930insA	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.357+2->A	4.37:g.71394937_71394937dupA						AMTN_uc010ihy.1_Splice_Site_p.L118_splice	p.L119_splice	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		7	446	+								Q0P503|Q0P506	Splice_Site	INS	ENST00000339336.4	37	c.357_splice	CCDS3542.1																																																																																				0.267	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	Intron	12	13	NA	NA	NA	NA	NA	12	13	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	491985	491985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:491985delC	ENST00000264938.3	-	2	422	c.413delG	c.(412-414)ggcfs	p.G138fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G138fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	138					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCCAGGTTGCCGAAGAAGAG	0.632																																							uc003jbe.2		NA																	0					0						c.(412-414)GGCfs		solute carrier family 9 (sodium/hydrogen							56.0	39.0	44.0					5																	491985		2198	4297	6495	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:491985delC		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.413delG	5.37:g.491985delC	ENSP00000264938:p.Gly138fs					SLC9A3_uc011clx.1_Frame_Shift_Del_p.G138fs	p.G138fs	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		2	525	-			138			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.413delG	CCDS3855.1																																																																																				0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		4	9	NA	NA	NA	NA	NA	4	9	---	---	---	---
ARSK	153642	broad.mit.edu	37	5	94927329	94927329	+	Splice_Site	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:94927329delG	ENST00000380009.4	+	6	1301	c.1096delG	c.(1096-1098)gat>at	p.D366fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	366					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)		TACCATGCTTGGTAAGTAATG	0.393																																							uc003kld.2		NA																	0				pancreas(1)	1						c.(1096-1098)GATfs		arylsulfatase K precursor							125.0	131.0	129.0					5																	94927329		2203	4300	6503	SO:0001630	splice_region_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927329delG		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.1096+1G>-	5.37:g.94927329delG						ARSK_uc010jbg.2_Frame_Shift_Del_p.D207fs|ARSK_uc011cum.1_RNA	p.D366fs	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1254	+		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)	366					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Del	DEL	ENST00000380009.4	37	c.1096delG	CCDS4073.1																																																																																				0.393	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	Frame_Shift_Del	27	43	NA	NA	NA	NA	NA	27	43	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32026081delC	ENST00000375244.3	-	22	7780	c.7579delG	c.(7579-7581)gagfs	p.E2527fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.E2527fs			P22105	TENX_HUMAN	tenascin XB	2587	Fibronectin type-III 17. {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						ACTGTCAGCTCCCCCAGGAGA	0.627																																							uc003nzl.2		NA																	0					0						c.(7579-7581)GAGfs		tenascin XB isoform 1 precursor							34.0	39.0	37.0					6																	32026081		1209	2530	3739	SO:0001589	frameshift_variant	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.chr6:32026081delC	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.7579delG	6.37:g.32026081delC	ENSP00000364393:p.Glu2527fs						p.E2527fs	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7781	-			2587			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	ENST00000375244.3	37	c.7579delG																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		12	51	NA	NA	NA	NA	NA	12	51	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155154520	155154520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155154520delG	ENST00000367178.3	+	20	4383	c.3807delG	c.(3805-3807)gagfs	p.E1269fs	SCAF8_ENST00000417268.1_Frame_Shift_Del_p.E1269fs|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.E1335fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1269					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAGAAACTGAGGGGACATAAT	0.363																																							uc003qqa.2		NA																	0					0						c.(3805-3807)GAGfs		RNA-binding motif protein 16							67.0	68.0	68.0					6																	155154520		2203	4300	6503	SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155154520delG	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3807delG	6.37:g.155154520delG	ENSP00000356146:p.Glu1269fs					TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Frame_Shift_Del_p.E1335fs|RBM16_uc011efk.1_Frame_Shift_Del_p.E1314fs|RBM16_uc003qpz.2_Frame_Shift_Del_p.E1269fs	p.E1269fs	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	4039	+		Ovarian(120;0.196)	1269					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Del	DEL	ENST00000367178.3	37	c.3807delG	CCDS5247.1																																																																																				0.363	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		8	45	NA	NA	NA	NA	NA	8	45	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90419930	90419930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:90419930delG	ENST00000380050.3	+	5	638	c.507delG	c.(505-507)cagfs	p.Q169fs	CDK14_ENST00000436577.2_Frame_Shift_Del_p.Q40fs|CDK14_ENST00000265741.3_Frame_Shift_Del_p.Q151fs|CDK14_ENST00000406263.1_Frame_Shift_Del_p.Q123fs			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCAGGCTGCAGGAAGAAGAAG	0.393																																					GBM(83;1228 1256 8311 16577 31299)	GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NA																	0				lung(3)|ovary(1)	4						c.(505-507)CAGfs		PFTAIRE protein kinase 1							160.0	157.0	158.0					7																	90419930		2203	4300	6503	SO:0001589	frameshift_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419930delG		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.507delG	7.37:g.90419930delG	ENSP00000369390:p.Gln169fs					CDK14_uc003ukt.1_Frame_Shift_Del_p.Q123fs|CDK14_uc003ukv.1_Frame_Shift_Del_p.Q123fs|CDK14_uc003uku.1_Frame_Shift_Del_p.Q123fs|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Frame_Shift_Del_p.Q151fs|CDK14_uc010les.1_Frame_Shift_Del_p.Q123fs|CDK14_uc011khl.1_Frame_Shift_Del_p.Q40fs	p.Q169fs	NM_012395	NP_036527	O94921	CDK14_HUMAN			5	729	+			169			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Frame_Shift_Del	DEL	ENST00000380050.3	37	c.507delG																																																																																					0.393	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		132	65	NA	NA	NA	NA	NA	132	65	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Frame_Shift_Del	DEL	C	C	-	rs200539443		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:100678729delC	ENST00000306151.4	+	3	4096	c.4032delC	c.(4030-4032)gtcfs	p.V1344fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4030-4032)GTCfs		mucin 17 precursor							228.0	225.0	226.0					7																	100678729		2203	4300	6503	SO:0001589	frameshift_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678729delC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4032delC	7.37:g.100678729delC	ENSP00000302716:p.Val1344fs					MUC17_uc010lho.1_RNA	p.V1344fs	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4085	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1344			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	c.4032delC	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		155	78	NA	NA	NA	NA	NA	155	78	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217654	150217654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:150217654delG	ENST00000313543.4	+	2	749	c.592delG	c.(592-594)gggfs	p.G198fs		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	198	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAACGAAGGGGCTTACTT	0.438																																							uc003whk.2		NA																	0				pancreas(1)|skin(1)	2						c.(592-594)GGGfs		GTPase, IMAP family member 7							92.0	84.0	86.0					7																	150217654		2203	4300	6503	SO:0001589	frameshift_variant	168537						GTP binding	g.chr7:150217654delG	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.592delG	7.37:g.150217654delG	ENSP00000315474:p.Gly198fs						p.G198fs	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	722	+			198						Frame_Shift_Del	DEL	ENST00000313543.4	37	c.592delG	CCDS5903.1																																																																																				0.438	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		29	16	NA	NA	NA	NA	NA	29	16	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36117970	36117993	+	In_Frame_Del	DEL	ACAGATGTATTTCTACAGATATAC	ACAGATGTATTTCTACAGATATAC	-	rs113466978|rs267606444		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	ACAGATGTATTTCTACAGATATAC	ACAGATGTATTTCTACAGATATAC	-	-	ACAGATGTATTTCTACAGATATAC	ACAGATGTATTTCTACAGATATAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:36117970_36117993delACAGATGTATTTCTACAGATATAC	ENST00000313548.4	+	7	1012_1035	c.826_849delACAGATGTATTTCTACAGATATAC	c.(826-849)acagatgtatttctacagatatacdel	p.TDVFLQIY276del		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	276						integral component of membrane (GO:0016021)		p.D277G(1)									ACGGGCATGGACAGATGTATTTCTACAGATATACAAGGTAACAT	0.33																																							uc004ddk.1		NA																	1	Substitution - Missense(1)		breast(1)	central_nervous_system(1)	1						c.(826-849)ACAGATGTATTTCTACAGATATACdel		hypothetical protein LOC286464																																				SO:0001651	inframe_deletion	286464					integral to membrane		g.chrX:36117970_36117993delACAGATGTATTTCTACAGATATAC	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.826_849delACAGATGTATTTCTACAGATATAC	X.37:g.36117970_36117993delACAGATGTATTTCTACAGATATAC	ENSP00000324767:p.Thr276_Tyr283del						p.TDVFLQIY276del	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			7	1012_1035	+			276_283						In_Frame_Del	DEL	ENST00000313548.4	37	c.826_849delACAGATGTATTTCTACAGATATAC	CCDS14238.1																																																																																				0.330	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		7	69	NA	NA	NA	NA	NA	7	69	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51644748	51644749	+	Frame_Shift_Ins	INS	-	-	G	rs3199687	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:51644748_51644749insG	ENST00000375722.1	+	12	2311_2312	c.2059_2060insG	c.(2059-2061)cggfs	p.R687fs	MAGED1_ENST00000375772.3_Frame_Shift_Ins_p.R687fs|MAGED1_ENST00000326587.7_Frame_Shift_Ins_p.R687fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Frame_Shift_Ins_p.R743fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	687					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGCCGAAGCCCGGGCTGAAGCA	0.574										Multiple Myeloma(10;0.10)																													uc004dpm.2		NA																	0				ovary(3)	3						c.(2059-2061)CGGfs		melanoma antigen family D, 1 isoform b																																				SO:0001589	frameshift_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51644748_51644749insG	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2062dupG	X.37:g.51644751_51644751dupG	ENSP00000364874:p.Arg687fs	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Frame_Shift_Ins_p.R743fs|MAGED1_uc004dpo.2_Frame_Shift_Ins_p.R687fs	p.R687fs	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			12	2154_2155	+	Ovarian(276;0.236)		687					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Ins	INS	ENST00000375722.1	37	c.2059_2060insG	CCDS14337.1																																																																																				0.574	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		15	23	NA	NA	NA	NA	NA	15	23	---	---	---	---
ZXDB	158586	broad.mit.edu	37	X	57619478	57619478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:57619478delC	ENST00000374888.1	+	1	1210	c.997delC	c.(997-999)cccfs	p.P333fs		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	333	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAAACTGCGGCCCTTTGGCTG	0.597																																							uc004dvd.2		NA																	0					0						c.(997-999)CCCfs		zinc finger, X-linked, duplicated B							33.0	31.0	32.0					X																	57619478		2203	4300	6503	SO:0001589	frameshift_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619478delC	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.997delC	X.37:g.57619478delC	ENSP00000364023:p.Pro333fs						p.P333fs	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	1210	+			333			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Frame_Shift_Del	DEL	ENST00000374888.1	37	c.997delC	CCDS35313.1																																																																																				0.597	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		9	32	NA	NA	NA	NA	NA	9	32	---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68381849	68381849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:68381849delG	ENST00000361478.1	-	2	1610	c.1233delC	c.(1231-1233)gccfs	p.A411fs	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Frame_Shift_Del_p.A223fs|PJA1_ENST00000374571.4_Frame_Shift_Del_p.A356fs|PJA1_ENST00000374583.1_Frame_Shift_Del_p.A411fs	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	411					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCCAGTGCTGGCACTCACCT	0.622																																							uc004dxh.2		NA																	0					0						c.(1231-1233)GCCfs		praja 1 isoform a							27.0	30.0	29.0					X																	68381849		2202	4296	6498	SO:0001589	frameshift_variant	64219						zinc ion binding	g.chrX:68381849delG	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1233delC	X.37:g.68381849delG	ENSP00000355014:p.Ala411fs					PJA1_uc011mpi.1_Frame_Shift_Del_p.A129fs|PJA1_uc004dxg.2_Frame_Shift_Del_p.A223fs|PJA1_uc004dxi.2_Frame_Shift_Del_p.A356fs	p.A411fs	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1519	-			411					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Frame_Shift_Del	DEL	ENST00000361478.1	37	c.1233delC	CCDS14393.1																																																																																				0.622	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		12	35	NA	NA	NA	NA	NA	12	35	---	---	---	---
EMD	2010	broad.mit.edu	37	X	153608718	153608718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153608718delC	ENST00000369842.4	+	4	678	c.390delC	c.(388-390)ttcfs	p.F130fs	EMD_ENST00000369835.3_Frame_Shift_Del_p.F95fs|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	130	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACGCTTTCCATCACCAGG	0.587																																							uc004fkl.2		NA																	0					0						c.(388-390)TTCfs		emerin							50.0	46.0	48.0					X																	153608718		2203	4299	6502	SO:0001589	frameshift_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608718delC	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.390delC	X.37:g.153608718delC	ENSP00000358857:p.Phe130fs						p.F130fs	NM_000117	NP_000108	P50402	EMD_HUMAN			4	638	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		130			Interaction with F-actin (Probable).		Q6FI02	Frame_Shift_Del	DEL	ENST00000369842.4	37	c.390delC	CCDS14745.1																																																																																				0.587	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			21	38	NA	NA	NA	NA	NA	21	38	---	---	---	---
