#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
KIF1B	23095	broad.mit.edu	37	1	10421840	10421840	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:10421840C>G	ENST00000377086.1	+	40	4463	c.4261C>G	c.(4261-4263)Ctg>Gtg	p.L1421V	KIF1B_ENST00000377081.1_Missense_Mutation_p.L1421V|KIF1B_ENST00000263934.6_Missense_Mutation_p.L1375V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1421					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L1375V(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACCACGCTCTCTGCGTAGCCT	0.488																																							uc001aqx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4261-4263)CTG>GTG		kinesin family member 1B isoform b							148.0	129.0	135.0					1																	10421840		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10421840C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4261C>G	1.37:g.10421840C>G	ENSP00000366290:p.Leu1421Val					KIF1B_uc001aqw.3_Missense_Mutation_p.L1375V|KIF1B_uc001aqy.2_Missense_Mutation_p.L1395V|KIF1B_uc001aqz.2_Missense_Mutation_p.L1421V|KIF1B_uc001ara.2_Missense_Mutation_p.L1381V|KIF1B_uc001arb.2_Missense_Mutation_p.L1407V	p.L1421V	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	40	4463	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1421					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4261C>G		.	.	.	.	.	.	.	.	.	.	C	19.06	3.753532	0.69648	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74526	-0.77;-0.85;-0.85	5.76	4.84	0.62591	.	0.000000	0.64402	D	0.000001	D	0.82898	0.5137	L	0.60455	1.87	0.58432	D	0.999999	B;B;B;B;P;D	0.56035	0.413;0.329;0.36;0.011;0.524;0.974	B;B;B;B;B;D	0.70487	0.139;0.047;0.09;0.023;0.086;0.969	T	0.82594	-0.0380	10	0.40728	T	0.16	.	14.9838	0.71330	0.0:0.9314:0.0:0.0686	.	1407;1381;1421;1395;1421;1375	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1421;1375;1421;1421	ENSP00000263934:L1375V;ENSP00000366290:L1421V;ENSP00000366284:L1421V	ENSP00000263934:L1375V	L	+	1	2	KIF1B	10344427	0.985000	0.35326	0.993000	0.49108	0.980000	0.70556	2.712000	0.47186	1.565000	0.49641	0.655000	0.94253	CTG		0.488	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	110	0	0	0	0.001984	0	7	110				
PRAMEF4	400735	broad.mit.edu	37	1	12939843	12939843	+	Missense_Mutation	SNP	G	G	T	rs374610024	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:12939843G>T	ENST00000235349.5	-	4	1029	c.959C>A	c.(958-960)cCg>cAg	p.P320Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	320					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)			p.P320Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGATACTCGGGCACTGGGA	0.468																																							uc001aun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)CCG>CAG		PRAME family member 4							23.0	32.0	29.0					1																	12939843		1279	2466	3745	SO:0001583	missense	400735							g.chr1:12939843G>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.959C>A	1.37:g.12939843G>T	ENSP00000235349:p.Pro320Gln						p.P320Q	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1030	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	320					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.959C>A	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.247265	0.22880	.	.	ENSG00000243073	ENST00000235349	T	0.09350	2.99	1.48	-2.56	0.06268	.	0.468216	0.22583	N	0.058182	T	0.15392	0.0371	L	0.56280	1.765	0.09310	N	1	D	0.63046	0.992	D	0.62955	0.909	T	0.11299	-1.0593	10	0.34782	T	0.22	.	2.2144	0.03955	0.3388:0.0:0.4172:0.244	.	320	O60810	PRAM4_HUMAN	Q	320	ENSP00000235349:P320Q	ENSP00000235349:P320Q	P	-	2	0	PRAMEF4	12862430	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.114000	0.03293	-0.738000	0.04817	0.400000	0.26472	CCG		0.468	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		30	383	1	0	1.69901e-12	0.005524	2.69367e-12	30	383				
CELA2A	63036	broad.mit.edu	37	1	15792622	15792622	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:15792622G>A	ENST00000359621.4	+	6	647	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.V208M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGTGATGGCGTGATCTCCAG	0.577																																							uc001awk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(622-624)GTG>ATG		elastase 2A preproprotein							145.0	135.0	139.0					1																	15792622		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15792622G>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.622G>A	1.37:g.15792622G>A	ENSP00000352639:p.Val208Met						p.V208M	NM_033440	NP_254275	P08217	CEL2A_HUMAN			6	648	+			208			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.622G>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766748	0.31320	.	.	ENSG00000142615	ENST00000359621	D	0.92965	-3.14	3.61	0.384	0.16244	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452067	0.18115	U	0.151259	D	0.87305	0.6144	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	P	0.54965	0.765	T	0.78422	-0.2210	10	0.66056	D	0.02	.	3.3808	0.07254	0.4002:0.0:0.4246:0.1751	.	208	P08217	CEL2A_HUMAN	M	208	ENSP00000352639:V208M	ENSP00000352639:V208M	V	+	1	0	CELA2A	15665209	0.000000	0.05858	0.197000	0.23402	0.724000	0.41520	-0.504000	0.06375	0.216000	0.20781	-0.677000	0.03784	GTG		0.577	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		4	143	0	0	0	0.000602	0	4	143				
PADI4	23569	broad.mit.edu	37	1	17664568	17664568	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:17664568C>T	ENST00000375448.4	+	5	470	c.444C>T	c.(442-444)gcC>gcT	p.A148A	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	148					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A148A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GACAGGGTGCCATCCTGCTGG	0.532																																							uc001baj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(442-444)GCC>GCT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						119.0	102.0	108.0					1																	17664568		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17664568C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.444C>T	1.37:g.17664568C>T						PADI4_uc009vpc.2_Silent_p.A148A	p.A148A	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	5	472	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	148					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.444C>T	CCDS180.1																																																																																				0.532	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		5	69	0	0	0	0.000602	0	5	69				
AKR7A2	8574	broad.mit.edu	37	1	19634651	19634651	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:19634651C>A	ENST00000235835.3	-	3	613		c.e3+1		RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)						carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGCCCTCACCTGGTACACA	0.617																																							uc001bbw.2		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e3+1		aldo-keto reductase family 7, member A2							65.0	62.0	63.0					1																	19634651		2203	4300	6503	SO:0001630	splice_region_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19634651C>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.591+1G>T	1.37:g.19634651C>A						AKR7A2_uc001bbx.2_Intron|AKR7A2_uc009vpi.1_Missense_Mutation_p.V198L	p.Q197_splice	NM_003689	NP_003680	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	613	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)						O75749|Q5TG63	Splice_Site	SNP	ENST00000235835.3	37	c.591_splice	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584129	0.65992	.	.	ENSG00000053371	ENST00000235835;ENST00000489286	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.131	0.65253	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKR7A2	19507238	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.137000	0.77295	2.241000	0.73720	0.561000	0.74099	.		0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689	Intron	9	59	1	0	1.76689e-08	0.006214	2.52541e-08	9	59				
KDM1A	23028	broad.mit.edu	37	1	23382500	23382500	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:23382500T>G	ENST00000356634.3	+	6	1048	c.899T>G	c.(898-900)tTt>tGt	p.F300C	KDM1A_ENST00000542151.1_Missense_Mutation_p.F320C|KDM1A_ENST00000400181.4_Missense_Mutation_p.F320C|MIR4419A_ENST00000583845.1_RNA|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	300	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F300C(1)|p.F320C(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTACAAAGTTTTGGAATGGAT	0.373																																							uc001bgi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(898-900)TTT>TGT		lysine-specific histone demethylase 1 isoform b							115.0	118.0	117.0					1																	23382500		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23382500T>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.899T>G	1.37:g.23382500T>G	ENSP00000349049:p.Phe300Cys					KDM1A_uc001bgj.2_Missense_Mutation_p.F320C	p.F300C	NM_015013	NP_055828	O60341	KDM1A_HUMAN			6	1048	+			300			FAD (Potential).|Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.899T>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764593	0.89932	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.93133	-3.17;-3.17;-3.17	6.02	6.02	0.97574	Amine oxidase (1);	0.100877	0.64402	D	0.000001	D	0.96935	0.8999	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97495	1.0056	10	0.87932	D	0	-25.8756	15.7258	0.77756	0.0:0.0:0.0:1.0	.	320;300	O60341-2;O60341	.;KDM1A_HUMAN	C	300;320;320	ENSP00000349049:F300C;ENSP00000383042:F320C;ENSP00000439072:F320C	ENSP00000349049:F300C	F	+	2	0	KDM1A	23255087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.844000	0.86867	2.311000	0.77944	0.533000	0.62120	TTT		0.373	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	94	0	0	0	0.001168	0	5	94				
ZNF436	80818	broad.mit.edu	37	1	23689281	23689281	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:23689281C>G	ENST00000314011.4	-	4	730	c.594G>C	c.(592-594)gaG>gaC	p.E198D	ZNF436_ENST00000374608.3_Missense_Mutation_p.E198D	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E198D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTTCCCACACTCGTTACAGT	0.423																																							uc001bgt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(592-594)GAG>GAC		zinc finger protein 436							138.0	140.0	140.0					1																	23689281		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689281C>G	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.594G>C	1.37:g.23689281C>G	ENSP00000313582:p.Glu198Asp					ZNF436_uc001bgu.2_Missense_Mutation_p.E198D	p.E198D	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	975	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	198			C2H2-type 3.		Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.594G>C	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696094	0.30052	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.07444	3.19;3.19;3.19	5.47	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.08223	0.0205	L	0.43554	1.36	0.33606	D	0.603019	B	0.30033	0.266	B	0.33690	0.168	T	0.12041	-1.0563	10	0.42905	T	0.14	-32.1507	7.7759	0.29037	0.0:0.6613:0.0:0.3387	.	198	Q9C0F3	ZN436_HUMAN	D	198	ENSP00000313582:E198D;ENSP00000363737:E198D;ENSP00000363736:E198D	ENSP00000313582:E198D	E	-	3	2	ZNF436	23561868	0.005000	0.15991	1.000000	0.80357	0.994000	0.84299	-0.495000	0.06443	0.802000	0.34089	0.655000	0.94253	GAG		0.423	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		8	200	0	0	0	0.00308	0	8	200				
EXTL1	2134	broad.mit.edu	37	1	26349661	26349661	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:26349661T>A	ENST00000374280.3	+	1	1391	c.524T>A	c.(523-525)cTg>cAg	p.L175Q		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	175					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.L175Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCCAGCTGGGACAGGCT	0.642																																							uc001blf.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(523-525)CTG>CAG		exostoses-like 1							33.0	35.0	34.0					1																	26349661		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349661T>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.524T>A	1.37:g.26349661T>A	ENSP00000363398:p.Leu175Gln						p.L175Q	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1391	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	175			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.524T>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105262	0.77096	.	.	ENSG00000158008	ENST00000374280	D	0.97642	-4.47	5.5	3.13	0.36017	.	0.328406	0.29466	N	0.012069	D	0.97312	0.9121	M	0.74258	2.255	0.39125	D	0.961736	P	0.52463	0.953	P	0.62649	0.905	D	0.96102	0.9070	10	0.37606	T	0.19	-5.7756	6.9292	0.24432	0.0:0.1407:0.1263:0.7331	.	175	Q92935	EXTL1_HUMAN	Q	175	ENSP00000363398:L175Q	ENSP00000363398:L175Q	L	+	2	0	EXTL1	26222248	0.796000	0.28864	1.000000	0.80357	0.903000	0.53119	1.602000	0.36783	1.095000	0.41419	0.533000	0.62120	CTG		0.642	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		4	29	0	0	0	0.000248	0	4	29				
COL16A1	1307	broad.mit.edu	37	1	32138038	32138038	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32138038C>T	ENST00000373672.3	-	47	3600	c.3084G>A	c.(3082-3084)ttG>ttA	p.L1028L	COL16A1_ENST00000271069.6_Silent_p.L1028L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1028	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				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)	p.L1028L(1)		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)		TCTGGCCTGGCAATCCCGGAG	0.607																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)	8						c.(3082-3084)TTG>TTA		alpha 1 type XVI collagen precursor							83.0	90.0	88.0					1																	32138038		2003	4160	6163	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138038C>T	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.3084G>A	1.37:g.32138038C>T						COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Silent_p.L841L	p.L1028L	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3449	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1028			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3084G>A	CCDS41297.1																																																																																				0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		8	56	0	0	0	0.006214	0	8	56				
COL16A1	1307	broad.mit.edu	37	1	32155342	32155342	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32155342C>A	ENST00000373672.3	-	23	2136	c.1620G>T	c.(1618-1620)agG>agT	p.R540S	COL16A1_ENST00000373668.3_Splice_Site_p.R540S|COL16A1_ENST00000271069.6_Splice_Site_p.R540S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	540	Triple-helical region 8 (COL8) with 1 imperfection.				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)	p.R540S(1)		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)		GGGCACTCACCCTGGCTGGTA	0.567																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)	8						c.(1618-1620)AGG>AGT		alpha 1 type XVI collagen precursor							64.0	65.0	65.0					1																	32155342		1935	4119	6054	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32155342C>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.1620+1G>T	1.37:g.32155342C>A						COL16A1_uc001btj.1_Missense_Mutation_p.R369S|COL16A1_uc001btl.3_Missense_Mutation_p.R540S	p.R540S	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	23	1985	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	540			Cell attachment site (Potential).|Triple-helical region 8 (COL8) with 1 imperfection.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1620G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452800	0.43531	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.96913	-4.17;-3.31;-4.17;-3.31	5.44	3.57	0.40892	.	0.426359	0.23740	N	0.045026	D	0.91284	0.7252	L	0.28458	0.855	0.37424	D	0.913762	B;B;B	0.19817	0.039;0.008;0.013	B;B;B	0.19391	0.018;0.011;0.025	D	0.86114	0.1564	9	.	.	.	.	8.5092	0.33206	0.0:0.8209:0.0:0.1791	.	540;540;540	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	540;540;540;259	ENSP00000362776:R540S;ENSP00000271069:R540S;ENSP00000362772:R540S;ENSP00000362771:R259S	.	R	-	3	2	COL16A1	31927929	0.988000	0.35896	1.000000	0.80357	0.894000	0.52154	3.053000	0.49901	0.794000	0.33899	-0.136000	0.14681	AGG		0.567	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Missense_Mutation	8	47	1	0	3.86212e-05	0.008291	4.81489e-05	8	47				
LCK	3932	broad.mit.edu	37	1	32745303	32745303	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32745303A>C	ENST00000336890.5	+	10	1134	c.996A>C	c.(994-996)tcA>tcC	p.S332S	LCK_ENST00000373564.3_Silent_p.S339S|LCK_ENST00000333070.4_Silent_p.S362S	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.S339S(1)|p.S332S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AGACCCCTTCAGGCATCAAGT	0.577			T	TRB@	T-ALL																																		uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Substitution - coding silent(2)		lung(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(994-996)TCA>TCC		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						140.0	146.0	144.0					1																	32745303		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32745303A>C	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.996A>C	1.37:g.32745303A>C						LCK_uc001buy.2_Silent_p.S332S|LCK_uc001buz.2_Silent_p.S362S|LCK_uc010ohc.1_Silent_p.S376S|LCK_uc001bva.2_Silent_p.S339S	p.S332S	NM_005356	NP_005347	P06239	LCK_HUMAN			10	1134	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	332			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.996A>C	CCDS359.1																																																																																				0.577	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		21	219	0	0	0	0.002299	0	21	219				
INPP5B	3633	broad.mit.edu	37	1	38341286	38341286	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:38341286T>A	ENST00000373026.1	-	16	2020	c.2020A>T	c.(2020-2022)Aag>Tag	p.K674*	INPP5B_ENST00000373023.2_Nonsense_Mutation_p.K674*|INPP5B_ENST00000373027.1_Nonsense_Mutation_p.K430*|INPP5B_ENST00000373024.3_Nonsense_Mutation_p.K594*|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	674	ASH. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.K674*(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTCTCGCTTGGACAGGGAC	0.517																																							uc001ccg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	urinary_tract(1)	1						c.(1780-1782)AAG>TAG		inositol polyphosphate-5-phosphatase, 75kDa							102.0	104.0	104.0					1																	38341286		1948	4152	6100	SO:0001587	stop_gained	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38341286T>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2020A>T	1.37:g.38341286T>A	ENSP00000362117:p.Lys674*					INPP5B_uc009vvk.1_Nonsense_Mutation_p.K535*|INPP5B_uc001ccf.1_Nonsense_Mutation_p.K430*|INPP5B_uc010oij.1_RNA	p.K594*	NM_005540	NP_005531	P32019	I5P2_HUMAN			17	1874	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	674					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Nonsense_Mutation	SNP	ENST00000373026.1	37	c.1780A>T		.	.	.	.	.	.	.	.	.	.	T	37	6.480054	0.97598	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	.	.	.	5.17	5.17	0.71159	.	0.109105	0.34291	U	0.004082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.4616	0.50213	0.0:0.0:0.2662:0.7338	.	.	.	.	X	430;674;674;674;594	.	ENSP00000362114:K674X	K	-	1	0	INPP5B	38113873	0.962000	0.33011	1.000000	0.80357	0.972000	0.66771	2.494000	0.45329	2.091000	0.63221	0.533000	0.62120	AAG		0.517	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		4	52	0	0	0	0.000248	0	4	52				
MACF1	23499	broad.mit.edu	37	1	39844975	39844975	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:39844975C>A	ENST00000372915.3	+	53	13479	c.13392C>A	c.(13390-13392)ctC>ctA	p.L4464L	MACF1_ENST00000361689.2_Silent_p.L2397L|MACF1_ENST00000289893.4_Silent_p.L2899L|MACF1_ENST00000545844.1_Silent_p.L2397L|MACF1_ENST00000539005.1_Silent_p.L2376L|MACF1_ENST00000567887.1_Silent_p.L4496L|MACF1_ENST00000317713.7_Silent_p.L2397L|MACF1_ENST00000564288.1_Silent_p.L4459L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4464					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L2397L(1)|p.L2899L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCTATCCTCAACAGAATGG	0.473																																							uc010oiu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8695-8697)CTC>CTA		microfilament and actin filament cross-linker							193.0	192.0	192.0					1																	39844975		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39844975C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13392C>A	1.37:g.39844975C>A						MACF1_uc010ois.1_Silent_p.L2397L|MACF1_uc001cda.1_Silent_p.L2284L|MACF1_uc001cdc.1_Silent_p.L1463L	p.L2899L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		18	8828	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4464					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.8697C>A		.	.	.	.	.	.	.	.	.	.	C	3.729	-0.056001	0.07362	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.04	0.821	0.18799	.	.	.	.	.	T	0.53562	0.1804	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	.	6.6562	0.22988	0.0:0.3428:0.3556:0.3016	.	.	.	.	K	1510	.	.	Q	+	1	0	MACF1	39617562	1.000000	0.71417	0.468000	0.27192	0.524000	0.34500	1.404000	0.34623	-0.082000	0.12640	0.650000	0.86243	CAA		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	222	1	0	3.52763e-06	0.00499	4.65417e-06	18	222				
DMBX1	127343	broad.mit.edu	37	1	46976740	46976740	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:46976740A>C	ENST00000360032.3	+	3	481	c.467A>C	c.(466-468)cAg>cCg	p.Q156P	DMBX1_ENST00000371956.4_Missense_Mutation_p.Q161P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.Q161P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCAGATACCCAGCTGGACACT	0.637																																							uc001cpx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CAG>CCG		diencephalon/mesencephalon homeobox 1 isoform b							56.0	68.0	64.0					1																	46976740		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976740A>C	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.467A>C	1.37:g.46976740A>C	ENSP00000353132:p.Gln156Pro					DMBX1_uc001cpw.2_Missense_Mutation_p.Q156P	p.Q161P	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			3	497	+	Acute lymphoblastic leukemia(166;0.155)		161						Missense_Mutation	SNP	ENST00000360032.3	37	c.482A>C	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804392	0.31869	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93659	-3.18;-3.26	4.84	2.31	0.28768	.	0.390136	0.28555	N	0.014934	D	0.89329	0.6684	L	0.34521	1.04	0.34990	D	0.754917	P;P	0.47106	0.824;0.89	B;P	0.46796	0.177;0.527	D	0.88085	0.2809	10	0.24483	T	0.36	.	10.7144	0.46005	0.6966:0.3034:0.0:0.0	.	161;156	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	P	161;156	ENSP00000361024:Q161P;ENSP00000353132:Q156P	ENSP00000353132:Q156P	Q	+	2	0	DMBX1	46749327	0.993000	0.37304	0.945000	0.38365	0.656000	0.38851	1.792000	0.38754	0.693000	0.31634	0.482000	0.46254	CAG		0.637	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			5	52	0	0	0	0.000602	0	5	52				
DMRTA2	63950	broad.mit.edu	37	1	50885323	50885323	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:50885323T>G	ENST00000404795.3	-	3	1035	c.643A>C	c.(643-645)Aag>Cag	p.K215Q	DMRTA2_ENST00000418121.1_Missense_Mutation_p.K215Q	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	215	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K215Q(1)		endometrium(1)|lung(4)|pancreas(1)	6						GATAAGGGCTTCACCGGCGGC	0.677																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	uc010ona.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)AAG>CAG		DMRT-like family A2							5.0	6.0	6.0					1																	50885323		1770	3958	5728	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885323T>G	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.643A>C	1.37:g.50885323T>G	ENSP00000383909:p.Lys215Gln					DMRTA2_uc010onb.1_Missense_Mutation_p.K215Q	p.K215Q	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN			2	739	-			215			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.643A>C	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413781	0.83449	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.35421	1.31;1.31	3.98	3.98	0.46160	.	2.168240	0.01683	N	0.026249	T	0.60301	0.2258	L	0.57536	1.79	0.47065	D	0.999302	D	0.71674	0.998	D	0.76071	0.987	T	0.33701	-0.9858	10	0.35671	T	0.21	-9.1219	12.275	0.54730	0.0:0.0:0.0:1.0	.	215	Q96SC8	DMTA2_HUMAN	Q	215	ENSP00000383909:K215Q;ENSP00000399370:K215Q	ENSP00000383909:K215Q	K	-	1	0	DMRTA2	50657910	1.000000	0.71417	0.991000	0.47740	0.872000	0.50106	6.811000	0.75221	1.780000	0.52325	0.379000	0.24179	AAG		0.677	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		2	6	0	0	0	0.004672	0	2	6				
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:66384348C>T	ENST00000329654.4	+	3	298	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_ENST00000371049.3_Silent_p.I37I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	37					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I37I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CACTTGGGATCGACCTCTGGA	0.438																																							uc001dcn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(109-111)ATC>ATT		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						82.0	80.0	81.0					1																	66384348		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384348C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.111C>T	1.37:g.66384348C>T						PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Silent_p.I37I	p.I37I	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			3	302	+			37					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.111C>T	CCDS632.1																																																																																				0.438	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		6	104	0	0	0	0.001168	0	6	104				
ERICH3	127254	broad.mit.edu	37	1	75086563	75086563	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:75086563A>G	ENST00000326665.5	-	8	1073	c.855T>C	c.(853-855)agT>agC	p.S285S	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.S88S	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		285								p.S285S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAGCTGCATTACTATGTAAGG	0.343																																							uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(853-855)AGT>AGC		hypothetical protein LOC127254							95.0	91.0	92.0					1																	75086563		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75086563A>G																												ENST00000326665.5:c.855T>C	1.37:g.75086563A>G						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S79S	p.S285S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			8	1074	-			285					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.855T>C	CCDS30755.1																																																																																				0.343	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	59	0	0	0	0.000602	0	5	59				
EPHX4	253152	broad.mit.edu	37	1	92511124	92511125	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:92511124_92511125GG>TT	ENST00000370383.4	+	4	609_610	c.511_512GG>TT	c.(511-513)GGg>TTg	p.G171L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	171						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.G171L(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CCATGACTGGGGGGGCATGATT	0.391																																					GBM(140;473 1857 5172 22066 49719)	GBM(140;473 1857 5172 22066 49719)	uc001don.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(511-513)GGG>TTG		abhydrolase domain containing 7																																				SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92511124_92511125GG>TT	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	Exception_encountered	1.37:g.92511124_92511125delinsTT	ENSP00000359410:p.Gly171Leu						p.G171L	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			4	615_616	+			171					Q8NCC6	Missense_Mutation	DNP	ENST00000370383.4	37	c.511_512GG>TT	CCDS736.1																																																																																				0.391	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		21	126	0	0	0	0.004672	0	21	126				
CDC14A	8556	broad.mit.edu	37	1	100950007	100950007	+	Splice_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:100950007G>T	ENST00000336454.3	+	11	1492	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Splice_Site_p.E321D|CDC14A_ENST00000544534.1_Splice_Site_p.E379D|CDC14A_ENST00000361544.6_Splice_Site_p.E379D|CDC14A_ENST00000370124.3_Missense_Mutation_p.E379D	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	379					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E379D(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GATTTGGAGAGGTAAGTTTTC	0.358																																							uc001dtg.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1135-1137)GAG>GAT		CDC14 homolog A isoform 1							74.0	76.0	75.0					1																	100950007		2203	4300	6503	SO:0001630	splice_region_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100950007G>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1137+1G>T	1.37:g.100950007G>T						CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.E321D|CDC14A_uc001dte.3_Missense_Mutation_p.E379D|CDC14A_uc001dtf.2_Missense_Mutation_p.E379D|CDC14A_uc009wed.1_Missense_Mutation_p.E86D|CDC14A_uc009wee.2_Missense_Mutation_p.E379D	p.E379D	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	11	1625	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	379					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1137G>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821474	0.50633	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.11930	2.73;2.75;2.86;2.93;2.75	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	L	0.41632	1.29	0.49130	D	0.999751	P;B;B;D;B	0.57257	0.48;0.349;0.023;0.979;0.006	B;B;B;P;B	0.53224	0.2;0.099;0.01;0.721;0.004	T	0.00795	-1.1563	10	0.44086	T	0.13	-16.7285	16.6441	0.85172	0.0:0.0:1.0:0.0	.	321;379;379;379;379	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	D	321;379;379;379;379	ENSP00000442640:E321D;ENSP00000354916:E379D;ENSP00000359142:E379D;ENSP00000336739:E379D;ENSP00000442543:E379D	ENSP00000336739:E379D	E	+	3	2	CDC14A	100722595	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.953000	0.70290	2.658000	0.90341	0.555000	0.69702	GAG		0.358	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	Missense_Mutation	6	73	1	0	8.12818e-05	0.001984	9.95791e-05	6	73				
AMY2B	280	broad.mit.edu	37	1	104116939	104116939	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:104116939G>T	ENST00000361355.4	+	7	1418	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	268					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.V268L(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAATGGCCGGGTGACAGAATT	0.383																																							uc001duq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GTG>TTG		amylase, pancreatic, alpha-2B precursor							163.0	167.0	166.0					1																	104116939		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116939G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.802G>T	1.37:g.104116939G>T	ENSP00000354610:p.Val268Leu					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.V268L|AMY2B_uc001dus.1_5'Flank	p.V268L	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	7	1418	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	268					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.802G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590167	0.86851	.	.	ENSG00000240038	ENST00000361355	D	0.98221	-4.8	4.53	4.53	0.55603	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.90309	3.105	0.80722	D	1	D	0.59767	0.986	P	0.61201	0.885	D	0.99628	1.0985	10	0.87932	D	0	.	17.6787	0.88237	0.0:0.0:1.0:0.0	.	268	P19961	AMY2B_HUMAN	L	268	ENSP00000354610:V268L	ENSP00000354610:V268L	V	+	1	0	AMY2B	103918462	1.000000	0.71417	0.999000	0.59377	0.627000	0.37826	9.609000	0.98334	2.247000	0.74100	0.650000	0.86243	GTG		0.383	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		22	557	1	0	8.24728e-16	0.004656	1.36092e-15	22	557				
GPSM2	29899	broad.mit.edu	37	1	109445818	109445818	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:109445818A>G	ENST00000406462.2	+	10	1797	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	GPSM2_ENST00000264126.3_Missense_Mutation_p.M342V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	342					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.M335V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGATCAAGCAATGCATTTTGC	0.373																																							uc010ovc.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1024-1026)ATG>GTG		LGN protein							107.0	103.0	104.0					1																	109445818		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109445818A>G	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1024A>G	1.37:g.109445818A>G	ENSP00000385510:p.Met342Val					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.M342V|GPSM2_uc010ove.1_Missense_Mutation_p.M342V	p.M342V	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	9	1520	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	342			TPR 8.		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.1024A>G	CCDS792.2	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278875	0.40294	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.61392	0.11;0.11	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.077300	0.85682	D	0.000000	T	0.21921	0.0528	N	0.11255	0.115	0.44677	D	0.997664	B	0.02656	0.0	B	0.08055	0.003	T	0.12477	-1.0546	10	0.44086	T	0.13	-2.1076	10.3592	0.43982	0.927:0.0:0.073:0.0	.	342	P81274	GPSM2_HUMAN	V	342	ENSP00000385510:M342V;ENSP00000264126:M342V	ENSP00000264126:M342V	M	+	1	0	GPSM2	109247341	1.000000	0.71417	0.938000	0.37757	0.996000	0.88848	5.965000	0.70387	2.176000	0.68965	0.528000	0.53228	ATG		0.373	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		3	33	0	0	0	0.004672	0	3	33				
RSBN1	54665	broad.mit.edu	37	1	114354885	114354885	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:114354885A>C	ENST00000261441.5	-	1	213	c.150T>G	c.(148-150)gcT>gcG	p.A50A	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	50						nucleus (GO:0005634)		p.A50A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CGACCTGCGCAGCCATTTCAC	0.687																																							uc001edq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(148-150)GCT>GCG		round spermatid basic protein 1							52.0	68.0	63.0					1																	114354885		2203	4297	6500	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354885A>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.150T>G	1.37:g.114354885A>C						RSBN1_uc001edr.2_RNA	p.A50A	NM_018364	NP_060834	Q5VWQ0	RSBN1_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)	1	186	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	50					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.150T>G	CCDS862.1																																																																																				0.687	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		9	116	0	0	0	0.001368	0	9	116				
PPIAL4G	644591	broad.mit.edu	37	1	143767783	143767783	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:143767783G>C	ENST00000419275.1	-	1	98	c.66C>G	c.(64-66)atC>atG	p.I22M		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	22	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I22M(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAAACTGTTTGATGGAGATGC	0.498																																							uc001ejt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)ATC>ATG		peptidylprolyl isomerase A (cyclophilin A)-like							154.0	143.0	147.0					1																	143767783		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767783G>C		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.66C>G	1.37:g.143767783G>C	ENSP00000393845:p.Ile22Met						p.I22M	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	99	-			22			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.66C>G	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	0.522	-0.861612	0.02610	.	.	ENSG00000236334	ENST00000419275	T	0.55052	0.54	0.523	-0.796	0.10912	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.397916	0.24061	U	0.041914	T	0.11281	0.0275	N	0.21545	0.675	0.19300	N	0.999971	B	0.13145	0.007	B	0.18871	0.023	T	0.34403	-0.9830	9	0.14252	T	0.57	.	.	.	.	.	22	A2BFH1	PAL4G_HUMAN	M	22	ENSP00000393845:I22M	ENSP00000393845:I22M	I	-	3	3	PPIAL4G	142559306	0.000000	0.05858	0.106000	0.21319	0.076000	0.17211	-2.414000	0.01037	-0.252000	0.09528	0.403000	0.27427	ATC		0.498	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		5	473	0	0	0	0.001984	0	5	473				
HIST2H2AC	8338	broad.mit.edu	37	1	149858839	149858839	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:149858839G>C	ENST00000331380.2	+	1	315	c.315G>C	c.(313-315)caG>caC	p.Q105H	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q105H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522																																							uc001etd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(313-315)CAG>CAC		histone cluster 2, H2ac							84.0	83.0	83.0					1																	149858839		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858839G>C	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.315G>C	1.37:g.149858839G>C	ENSP00000332194:p.Gln105His					HIST2H2BE_uc001etc.2_5'Flank	p.Q105H	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	315	+	Breast(34;0.0124)|all_hematologic(923;0.127)		105					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.315G>C	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629736	0.28978	.	.	ENSG00000184260	ENST00000331380	T	0.43688	0.94	5.63	3.73	0.42828	Histone-fold (2);Histone H2A (2);	0.000000	0.42172	D	0.000743	T	0.48822	0.1521	M	0.75150	2.29	0.44036	D	0.996763	D	0.71674	0.998	D	0.65684	0.937	T	0.53913	-0.8371	10	0.62326	D	0.03	.	10.0002	0.41924	0.0727:0.0:0.7898:0.1375	.	105	Q16777	H2A2C_HUMAN	H	105	ENSP00000332194:Q105H	ENSP00000332194:Q105H	Q	+	3	2	HIST2H2AC	148125463	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	1.653000	0.37323	0.732000	0.32470	-0.187000	0.12897	CAG		0.522	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		8	142	0	0	0	0.004482	0	8	142				
HRNR	388697	broad.mit.edu	37	1	152193051	152193051	+	Nonsense_Mutation	SNP	C	C	A	rs140445785	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152193051C>A	ENST00000368801.2	-	3	1129	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	352					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)	p.E352*(1)		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)			GAGCCAGACTCATGTTGCCCA	0.562																																							uc001ezt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1054-1056)GAG>TAG		hornerin							115.0	119.0	118.0					1																	152193051		2203	4300	6503	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193051C>A	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.1054G>T	1.37:g.152193051C>A	ENSP00000357791:p.Glu352*						p.E352*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1130	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		352			3.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.1054G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595666	0.66219	.	.	ENSG00000197915	ENST00000368801	.	.	.	4.43	-2.82	0.05787	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	2.2279	0.03989	0.5047:0.2126:0.1239:0.1587	.	.	.	.	X	352	.	ENSP00000357791:E352X	E	-	1	0	HRNR	150459675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.486000	0.00978	-0.824000	0.04295	-0.915000	0.02750	GAG		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		37	180	1	0	1.96642e-18	0.006999	3.30265e-18	37	180				
HRNR	388697	broad.mit.edu	37	1	152193307	152193307	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152193307C>G	ENST00000368801.2	-	3	873	c.798G>C	c.(796-798)caG>caC	p.Q266H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	266					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)	p.Q266H(1)		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)			CCCTAGATGACTGTCCTGACC	0.557																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(796-798)CAG>CAC		hornerin							331.0	299.0	310.0					1																	152193307		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193307C>G	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.798G>C	1.37:g.152193307C>G	ENSP00000357791:p.Gln266His						p.Q266H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	874	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		266			2.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.798G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397498	0.11638	.	.	ENSG00000197915	ENST00000368801	T	0.05382	3.45	4.37	-1.3	0.09259	.	.	.	.	.	T	0.00815	0.0027	N	0.19112	0.55	0.09310	N	1	B	0.21225	0.053	B	0.14578	0.011	T	0.48636	-0.9018	9	0.15499	T	0.54	.	1.6032	0.02679	0.3229:0.3814:0.1207:0.1749	.	266	Q86YZ3	HORN_HUMAN	H	266	ENSP00000357791:Q266H	ENSP00000357791:Q266H	Q	-	3	2	HRNR	150459931	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.017000	0.01445	-0.352000	0.08237	-0.188000	0.12872	CAG		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		25	700	0	0	0	0.00278	0	25	700				
FLG	2312	broad.mit.edu	37	1	152276015	152276015	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152276015G>A	ENST00000368799.1	-	3	11382	c.11347C>T	c.(11347-11349)Cac>Tac	p.H3783Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3783	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)	p.H3783Y(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)			GACCCTGAGTGTCCAGACCTA	0.567									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11347-11349)CAC>TAC		filaggrin							347.0	335.0	339.0					1																	152276015		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.chr1:152276015G>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.11347C>T	1.37:g.152276015G>A	ENSP00000357789:p.His3783Tyr						p.H3783Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11383	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3783			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11347C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093541	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.03982	3.74	3.18	2.22	0.28083	.	.	.	.	.	T	0.01695	0.0054	M	0.77820	2.39	0.09310	N	1	B	0.17667	0.023	B	0.10450	0.005	T	0.52381	-0.8583	9	0.02654	T	1	-1.3794	8.174	0.31270	0.0:0.249:0.751:0.0	.	3783	P20930	FILA_HUMAN	Y	3783	ENSP00000357789:H3783Y	ENSP00000357789:H3783Y	H	-	1	0	FLG	150542639	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.123000	0.10611	0.644000	0.30656	0.552000	0.68991	CAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		261	562	0	0	0	0.00361	0	261	562				
FLG	2312	broad.mit.edu	37	1	152286475	152286475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152286475C>A	ENST00000368799.1	-	3	922	c.887G>T	c.(886-888)aGa>aTa	p.R296I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	296	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)	p.R296I(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)			CTGGCTAACTCTGGATCCCCT	0.512									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(886-888)AGA>ATA		filaggrin							246.0	254.0	251.0					1																	152286475		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.chr1:152286475C>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.887G>T	1.37:g.152286475C>A	ENSP00000357789:p.Arg296Ile					uc001ezv.2_RNA	p.R296I	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	923	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		296			Filaggrin 1.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.887G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.08	1.533043	0.27387	.	.	ENSG00000143631	ENST00000368799	T	0.04317	3.65	3.03	-1.65	0.08291	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.56751	0.805	T	0.32402	-0.9908	9	0.34782	T	0.22	-1.7076	2.0288	0.03525	0.1902:0.3127:0.373:0.1241	.	296	P20930	FILA_HUMAN	I	296	ENSP00000357789:R296I	ENSP00000357789:R296I	R	-	2	0	FLG	150553099	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.011000	0.03652	-0.726000	0.04895	0.407000	0.27541	AGA		0.512	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		85	557	1	0	2.75442e-36	0.00361	4.73861e-36	85	557				
FLG2	388698	broad.mit.edu	37	1	152325867	152325867	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152325867G>T	ENST00000388718.5	-	3	4467	c.4395C>A	c.(4393-4395)caC>caA	p.H1465Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1465					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)	p.H1465Q(1)		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)			GAGTAGTTCCGTGTCTCCCAT	0.502																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4393-4395)CAC>CAA		filaggrin family member 2							438.0	388.0	405.0					1																	152325867		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325867G>T	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.4395C>A	1.37:g.152325867G>T	ENSP00000373370:p.His1465Gln					uc001ezv.2_Intron	p.H1465Q	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4468	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1465			Filaggrin 5.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4395C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.519930	0.00967	.	.	ENSG00000143520	ENST00000388718	T	0.02121	4.44	2.82	-5.65	0.02459	.	.	.	.	.	T	0.00271	0.0008	N	0.05306	-0.075	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.46843	-0.9162	9	0.11182	T	0.66	-0.496	1.0233	0.01523	0.1461:0.1944:0.3132:0.3463	.	1465	Q5D862	FILA2_HUMAN	Q	1465	ENSP00000373370:H1465Q	ENSP00000373370:H1465Q	H	-	3	2	FLG2	150592491	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-5.107000	0.00151	-1.234000	0.02548	0.297000	0.19635	CAC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		211	505	1	0	2.39235e-93	0.00361	4.14089e-93	211	505				
CRNN	49860	broad.mit.edu	37	1	152382335	152382335	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152382335G>T	ENST00000271835.3	-	3	1285	c.1223C>A	c.(1222-1224)gCa>gAa	p.A408E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	408					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.A408E(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGTGCTTGCCCCAGTCTG	0.607																																							uc001ezx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1222-1224)GCA>GAA		cornulin							100.0	77.0	85.0					1																	152382335		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382335G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1223C>A	1.37:g.152382335G>T	ENSP00000271835:p.Ala408Glu						p.A408E	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1297	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		408					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1223C>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940827	0.52972	.	.	ENSG00000143536	ENST00000271835	T	0.04603	3.59	5.01	-2.11	0.07187	.	1.157980	0.06321	N	0.704501	T	0.02418	0.0074	L	0.58810	1.83	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.35871	-0.9771	10	0.29301	T	0.29	.	2.9712	0.05924	0.0834:0.2597:0.2597:0.3972	.	408	Q9UBG3	CRNN_HUMAN	E	408	ENSP00000271835:A408E	ENSP00000271835:A408E	A	-	2	0	CRNN	150648959	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.208000	0.17415	-0.013000	0.14199	-0.302000	0.09304	GCA		0.607	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		37	92	1	0	9.17885e-22	0.003271	1.56013e-21	37	92				
PGLYRP3	114771	broad.mit.edu	37	1	153270495	153270495	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:153270495G>T	ENST00000290722.1	-	7	1015	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	321					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.N321K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGACAGGATGTTGACCACGT	0.597																																							uc001fbn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(961-963)AAC>AAA		peptidoglycan recognition protein 3 precursor							264.0	221.0	236.0					1																	153270495		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153270495G>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.963C>A	1.37:g.153270495G>T	ENSP00000290722:p.Asn321Lys						p.N321K	NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1016	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		321					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.963C>A	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	g	0.020	-1.443503	0.01089	.	.	ENSG00000159527	ENST00000290722	T	0.13538	2.58	4.26	-2.06	0.07298	N-acetylmuramoyl-L-alanine amidase domain (4);	1.052220	0.07445	N	0.898087	T	0.02193	0.0068	L	0.43554	1.36	0.09310	N	1	B	0.25563	0.129	B	0.22880	0.042	T	0.46062	-0.9218	10	0.13108	T	0.6	-24.7344	0.9268	0.01326	0.3207:0.1554:0.3658:0.1582	.	321	Q96LB9	PGRP3_HUMAN	K	321	ENSP00000290722:N321K	ENSP00000290722:N321K	N	-	3	2	PGLYRP3	151537119	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.506000	0.06359	-0.703000	0.05049	-0.216000	0.12614	AAC		0.597	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		57	237	1	0	4.96213e-28	0.00361	8.51081e-28	57	237				
FCRL1	115350	broad.mit.edu	37	1	157771368	157771368	+	Splice_Site	SNP	C	C	A	rs148618017		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:157771368C>A	ENST00000368176.3	-	6	954		c.e6-1		FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Splice_Site	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGTAGGCACTAGAGGGAGA	0.552																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	1	Unknown(1)		lung(1)	skin(4)|ovary(3)	7						c.e6-1		Fc receptor-like 1 isoform 1 precursor							66.0	67.0	67.0					1																	157771368		2203	4300	6503	SO:0001630	splice_region_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771368C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.887-1G>T	1.37:g.157771368C>A						FCRL1_uc001frf.2_Splice_Site|FCRL1_uc001frh.2_Splice_Site_p.V296_splice|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	p.V296_splice	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1000	-	all_hematologic(112;0.0378)							B2RE05|Q8N759|Q8NDI0|Q96PJ6	Splice_Site	SNP	ENST00000368176.3	37	c.887_splice	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026885	0.19512	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5347	0.67953	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL1	156037992	0.997000	0.39634	0.998000	0.56505	0.042000	0.13812	3.077000	0.50089	2.894000	0.99253	0.655000	0.94253	.		0.552	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	Intron	9	69	1	0	7.03913e-09	0.001368	1.02158e-08	9	69				
OR10K2	391107	broad.mit.edu	37	1	158389821	158389821	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158389821G>T	ENST00000314902.2	-	1	835	c.836C>A	c.(835-837)aCt>aAt	p.T279N		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTTATAATAGTGTAGGATAC	0.378																																							uc010pii.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(835-837)ACT>AAT		olfactory receptor, family 10, subfamily K,							93.0	95.0	94.0					1																	158389821		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389821G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.836C>A	1.37:g.158389821G>T	ENSP00000324251:p.Thr279Asn						p.T279N	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	836	-	all_hematologic(112;0.0378)		279			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.836C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	8.552	0.875726	0.17395	.	.	ENSG00000180708	ENST00000314902	T	0.00267	8.38	4.23	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000370	T	0.00210	0.0006	M	0.83603	2.65	0.09310	N	0.999994	D	0.63880	0.993	P	0.60682	0.878	T	0.17107	-1.0380	10	0.87932	D	0	.	8.1776	0.31292	0.1903:0.0:0.8097:0.0	.	279	Q6IF99	O10K2_HUMAN	N	279	ENSP00000324251:T279N	ENSP00000324251:T279N	T	-	2	0	OR10K2	156656445	0.000000	0.05858	0.814000	0.32528	0.001000	0.01503	0.220000	0.17660	1.117000	0.41842	-0.216000	0.12614	ACT		0.378	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		14	101	1	0	1.5842e-08	0.001855	2.28157e-08	14	101				
OR10K2	391107	broad.mit.edu	37	1	158390091	158390091	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158390091G>A	ENST00000314902.2	-	1	565	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S189F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTTATGGTGAGATGCCAGCTT	0.438																																							uc010pii.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(565-567)TCT>TTT		olfactory receptor, family 10, subfamily K,							160.0	139.0	146.0					1																	158390091		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390091G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.566C>T	1.37:g.158390091G>A	ENSP00000324251:p.Ser189Phe						p.S189F	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	566	-	all_hematologic(112;0.0378)		189			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.566C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.168129	0.21621	.	.	ENSG00000180708	ENST00000314902	T	0.00152	8.66	4.14	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00109	0.0003	L	0.43598	1.365	0.30401	N	0.780032	D	0.56968	0.978	P	0.58780	0.845	T	0.37709	-0.9694	10	0.87932	D	0	.	11.9602	0.53005	0.0:0.4847:0.5153:0.0	.	189	Q6IF99	O10K2_HUMAN	F	189	ENSP00000324251:S189F	ENSP00000324251:S189F	S	-	2	0	OR10K2	156656715	0.991000	0.36638	0.043000	0.18650	0.011000	0.07611	2.897000	0.48664	1.034000	0.39945	0.467000	0.42956	TCT		0.438	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		4	79	0	0	0	0.000248	0	4	79				
OR10R2	343406	broad.mit.edu	37	1	158450078	158450078	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158450078G>A	ENST00000368152.1	+	1	411	c.411G>A	c.(409-411)gtG>gtA	p.V137V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V137V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATTGGGTGTGATGGGTTATG	0.478																																							uc010pik.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(409-411)GTG>GTA		olfactory receptor, family 10, subfamily R,							353.0	303.0	320.0					1																	158450078		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450078G>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.411G>A	1.37:g.158450078G>A						uc001fso.1_RNA	p.V137V	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	411	+	all_hematologic(112;0.0378)		137			Helical; Name=3; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.411G>A	CCDS30898.1																																																																																				0.478	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		17	455	0	0	0	0.008871	0	17	455				
OR10R2	343406	broad.mit.edu	37	1	158450652	158450652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158450652G>T	ENST00000368152.1	+	1	985	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G329C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGCAAGAAAGGTTCTCTAAA	0.308																																							uc010pik.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(985-987)GGT>TGT		olfactory receptor, family 10, subfamily R,							50.0	48.0	49.0					1																	158450652		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450652G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.985G>T	1.37:g.158450652G>T	ENSP00000357134:p.Gly329Cys					uc001fso.1_RNA	p.G329C	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	985	+	all_hematologic(112;0.0378)		329			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.985G>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	9.112	1.006782	0.19199	.	.	ENSG00000198965	ENST00000368152	T	0.36157	1.27	4.2	-0.313	0.12754	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.37957	-0.9683	9	0.38643	T	0.18	.	4.1558	0.10260	0.2668:0.0:0.4433:0.2899	.	329	Q8NGX6	O10R2_HUMAN	C	329	ENSP00000357134:G329C	ENSP00000357134:G329C	G	+	1	0	OR10R2	156717276	0.000000	0.05858	0.164000	0.22755	0.660000	0.38997	0.672000	0.25187	0.081000	0.16988	0.655000	0.94253	GGT		0.308	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		11	43	1	0	6.42651e-13	0.000978	1.02752e-12	11	43				
OR6Y1	391112	broad.mit.edu	37	1	158517803	158517803	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158517803G>T	ENST00000302617.3	-	1	92	c.93C>A	c.(91-93)ctC>ctA	p.L31L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L31L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGAGAAAAAGAGAAGCTGGA	0.453																																							uc010pil.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)CTC>CTA		olfactory receptor, family 6, subfamily Y,							49.0	50.0	49.0					1																	158517803		2202	4300	6502	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517803G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.93C>A	1.37:g.158517803G>T							p.L31L	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	93	-	all_hematologic(112;0.0378)		31			Helical; Name=1; (Potential).		Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.93C>A	CCDS30899.1																																																																																				0.453	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		18	73	1	0	5.03518e-11	0.007413	7.74433e-11	18	73				
DCAF8	50717	broad.mit.edu	37	1	160210023	160210023	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160210023C>T	ENST00000368073.3	-	4	621	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	DCAF8_ENST00000326837.2_Missense_Mutation_p.E63K|DCAF8_ENST00000610139.1_Missense_Mutation_p.E63K|DCAF8_ENST00000475733.1_Missense_Mutation_p.E63K|DCAF8_ENST00000608310.1_Missense_Mutation_p.E217K|DCAF8_ENST00000368074.1_Missense_Mutation_p.E63K|DCAF8_ENST00000556710.1_Missense_Mutation_p.E217K			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	63					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E63K(1)|p.E217K(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CCTCGACTTTCTGTGCTGGTG	0.522																																							uc001fvo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(187-189)GAA>AAA		DDB1 and CUL4 associated factor 8							112.0	79.0	90.0					1																	160210023		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160210023C>T	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.187G>A	1.37:g.160210023C>T	ENSP00000357052:p.Glu63Lys					DCAF8_uc001fvn.2_Missense_Mutation_p.E63K|DCAF8_uc009wth.2_Missense_Mutation_p.E63K|DCAF8_uc010pjb.1_Missense_Mutation_p.E63K|DCAF8_uc010pjc.1_Missense_Mutation_p.E217K|DCAF8_uc001fvq.3_Missense_Mutation_p.E63K|DCAF8_uc001fvp.3_Missense_Mutation_p.E63K|uc010pjd.1_3'UTR	p.E63K	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	499	-			63					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.187G>A	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824025	0.71143	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.31;-0.31	5.03	4.05	0.47172	.	0.088656	0.42821	U	0.000649	T	0.67515	0.2901	L	0.47190	1.495	0.33993	D	0.649415	B;D;D	0.89917	0.206;1.0;0.991	B;D;P	0.70935	0.058;0.971;0.837	T	0.69873	-0.5027	10	0.52906	T	0.07	-9.8213	12.6131	0.56561	0.0:0.832:0.168:0.0	.	217;63;63	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	K	63;63;63;217;63;63;63;217;275	ENSP00000357052:E63K;ENSP00000318227:E63K;ENSP00000357053:E63K;ENSP00000451989:E217K;ENSP00000451235:E217K	ENSP00000318227:E63K	E	-	1	0	RP11-574F21.3;DCAF8	158476647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.173000	0.58249	2.328000	0.79073	0.650000	0.86243	GAA		0.522	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		4	70	0	0	0	0.000602	0	4	70				
NCSTN	23385	broad.mit.edu	37	1	160313247	160313247	+	Silent	SNP	C	C	T	rs199694056		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160313247C>T	ENST00000294785.5	+	1	186	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	NCSTN_ENST00000368063.1_5'UTR|NCSTN_ENST00000392212.4_5'Flank|NCSTN_ENST00000535857.1_Silent_p.L21L|COPA_ENST00000368069.3_5'Flank|COPA_ENST00000241704.7_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	21					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.L21L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGCCTTCTGTCTTTCTG	0.667																																							uc001fvx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(61-63)CTG>TTG		nicastrin precursor							34.0	42.0	39.0					1																	160313247		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160313247C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.61C>T	1.37:g.160313247C>T						COPA_uc009wti.2_5'UTR|COPA_uc001fvv.3_5'UTR|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_5'UTR|NCSTN_uc010pjf.1_Silent_p.L21L	p.L21L	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	185	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		21					Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.61C>T	CCDS1203.1																																																																																				0.667	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		6	47	0	0	0	0.001168	0	6	47				
SLAMF1	6504	broad.mit.edu	37	1	160604432	160604432	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160604432G>T	ENST00000302035.6	-	3	1020	c.671C>A	c.(670-672)cCg>cAg	p.P224Q	SLAMF1_ENST00000235739.5_Missense_Mutation_p.P224Q|SLAMF1_ENST00000538290.1_Missense_Mutation_p.P224Q|SLAMF1_ENST00000355199.3_Missense_Mutation_p.P224Q	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	224					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)	p.P224Q(1)		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)			TCCGGGCCACGGGCTGAAGGT	0.577																																							uc001fwl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(670-672)CCG>CAG		signaling lymphocytic activation molecule family							128.0	119.0	122.0					1																	160604432		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.chr1:160604432G>T	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.671C>A	1.37:g.160604432G>T	ENSP00000306190:p.Pro224Gln					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA	p.P224Q	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	1017	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		224			Extracellular (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.671C>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313377	0.40996	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.35	2.86	0.33363	.	0.348813	0.29806	N	0.011153	T	0.49966	0.1588	M	0.86028	2.79	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.36138	-0.9760	10	0.29301	T	0.29	-30.1107	6.1554	0.20334	0.2008:0.0:0.7992:0.0	.	224	Q13291	SLAF1_HUMAN	Q	224	ENSP00000306190:P224Q;ENSP00000235739:P224Q;ENSP00000438406:P224Q;ENSP00000347333:P224Q	ENSP00000235739:P224Q	P	-	2	0	SLAMF1	158871056	0.247000	0.23920	0.021000	0.16686	0.001000	0.01503	2.372000	0.44257	0.937000	0.37394	0.650000	0.86243	CCG		0.577	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			30	117	1	0	2.42023e-17	0.003271	4.02897e-17	30	117				
ABL2	27	broad.mit.edu	37	1	179095584	179095584	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179095584C>A	ENST00000502732.1	-	4	818	c.615G>T	c.(613-615)ggG>ggT	p.G205G	ABL2_ENST00000507173.1_Silent_p.G184G|ABL2_ENST00000504405.1_Silent_p.G169G|ABL2_ENST00000344730.3_Silent_p.G190G|ABL2_ENST00000408940.3_Silent_p.G169G|ABL2_ENST00000367623.4_Silent_p.G184G|ABL2_ENST00000511413.1_Silent_p.G205G|ABL2_ENST00000512653.1_Silent_p.G190G|ABL2_ENST00000392043.3_Silent_p.G184G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	205	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G205G(1)|p.G169G(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGGACAGCTGCCCAGGGCTAC	0.537			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		2	Substitution - coding silent(2)		lung(2)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(613-615)GGG>GGT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						118.0	103.0	108.0					1																	179095584		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179095584C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.615G>T	1.37:g.179095584C>A						ABL2_uc010pnf.1_Silent_p.G205G|ABL2_uc010png.1_Silent_p.G184G|ABL2_uc010pnh.1_Silent_p.G184G|ABL2_uc009wxe.2_Silent_p.G184G|ABL2_uc001gmg.3_Silent_p.G190G|ABL2_uc001gmi.3_Silent_p.G190G|ABL2_uc001gmh.3_Silent_p.G169G|ABL2_uc010pne.1_Silent_p.G169G|ABL2_uc009wxf.1_Silent_p.G190G|ABL2_uc001gmk.2_Silent_p.G169G	p.G205G	NM_007314	NP_009298	P42684	ABL2_HUMAN			4	902	-			205			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.615G>T	CCDS30947.1																																																																																				0.537	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		27	84	1	0	2.79863e-10	0.004656	4.19054e-10	27	84				
AXDND1	126859	broad.mit.edu	37	1	179497545	179497545	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179497545A>T	ENST00000367618.3	+	23	3081	c.2694A>T	c.(2692-2694)gaA>gaT	p.E898D		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	898	Glu-rich.							p.E898D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTCTATTTGAAACAGATGTGT	0.348																																							uc001gmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2692-2694)GAA>GAT		hypothetical protein LOC126859 isoform 1							113.0	101.0	105.0					1																	179497545		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179497545A>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2694A>T	1.37:g.179497545A>T	ENSP00000356590:p.Glu898Asp					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E824D|C1orf125_uc009wxh.2_RNA	p.E898D	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			23	2821	+			898			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2694A>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980815	0.02197	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000359183;ENST00000434088	T;T	0.21734	1.99;1.99	4.12	2.96	0.34315	.	0.557841	0.15898	N	0.239222	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	0.999999	B;P	0.37466	0.421;0.596	B;B	0.26770	0.073;0.073	T	0.18650	-1.0330	10	0.09084	T	0.74	-1.3624	6.6851	0.23140	0.7661:0.0:0.0:0.2338	.	782;898	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	D	898;782;130;758	ENSP00000356590:E898D;ENSP00000391716:E758D	ENSP00000352107:E130D	E	+	3	2	AXDND1	177764168	0.005000	0.15991	0.001000	0.08648	0.029000	0.11900	2.189000	0.42621	0.705000	0.31890	-0.438000	0.05819	GAA		0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		16	26	0	0	0	0.00499	0	16	26				
CEP350	9857	broad.mit.edu	37	1	179989875	179989875	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179989875G>T	ENST00000367607.3	+	12	3384	c.2966G>T	c.(2965-2967)aGt>aTt	p.S989I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	989					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S989I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCTCTTCTTAGTGAGGGGAGT	0.433																																							uc001gnt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2965-2967)AGT>ATT		centrosome-associated protein 350							103.0	113.0	110.0					1																	179989875		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989875G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2966G>T	1.37:g.179989875G>T	ENSP00000356579:p.Ser989Ile					CEP350_uc009wxl.2_Missense_Mutation_p.S988I|CEP350_uc001gnu.2_Missense_Mutation_p.S823I	p.S989I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3349	+			989					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2966G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441762	0.83993	.	.	ENSG00000135837	ENST00000367607	T	0.22945	1.93	6.02	6.02	0.97574	.	0.000000	0.53938	D	0.000042	T	0.44095	0.1277	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.03587	-1.1022	9	.	.	.	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	989;989	E7EU22;Q5VT06	.;CE350_HUMAN	I	989	ENSP00000356579:S989I	.	S	+	2	0	CEP350	178256498	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.148000	0.94652	2.865000	0.98341	0.655000	0.94253	AGT		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		13	202	1	0	1.52009e-12	0.003163	2.41677e-12	13	202				
COLGALT2	23127	broad.mit.edu	37	1	183909713	183909713	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:183909713A>T	ENST00000361927.4	-	11	1976		c.e11+1		COLGALT2_ENST00000546159.1_Splice_Site|COLGALT2_ENST00000486375.1_Splice_Site|COLGALT2_ENST00000367521.1_Splice_Site|COLGALT2_ENST00000367520.3_Splice_Site	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2						extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.?(1)									AGGGAGACTCACACGGGATGC	0.483																																						Esophageal Squamous(10;42 606 18489 38825)	uc001gqr.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e11+1		glycosyltransferase 25 domain containing 2							166.0	147.0	153.0					1																	183909713		2203	4300	6503	SO:0001630	splice_region_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183909713A>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1604+1T>A	1.37:g.183909713A>T						GLT25D2_uc010poj.1_Splice_Site_p.V535_splice|GLT25D2_uc001gqp.2_Splice_Site_p.V143_splice|GLT25D2_uc001gqq.2_Splice_Site_p.V272_splice|GLT25D2_uc001gqs.2_Splice_Site_p.V415_splice	p.V535_splice	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			11	1976	-								O60327|Q9BZR0	Splice_Site	SNP	ENST00000361927.4	37	c.1604_splice	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386557	0.82902	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6689	0.77258	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLT25D2	182176336	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.020000	0.93667	2.093000	0.63338	0.533000	0.62120	.		0.483	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	Intron	8	87	0	0	0	0.004482	0	8	87				
ASPM	259266	broad.mit.edu	37	1	197073257	197073257	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:197073257G>C	ENST00000367409.4	-	18	5380	c.5124C>G	c.(5122-5124)atC>atG	p.I1708M	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1708					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1708M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACATTGCTGGATAAATAGTG	0.348																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(5122-5124)ATC>ATG		asp (abnormal spindle)-like, microcephaly							92.0	92.0	92.0					1																	197073257		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073257G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5124C>G	1.37:g.197073257G>C	ENSP00000356379:p.Ile1708Met					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.I1708M	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	5381	-			1708					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5124C>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585024	0.46110	.	.	ENSG00000066279	ENST00000367409	T	0.74209	-0.82	5.47	2.56	0.30785	.	0.170854	0.41294	D	0.000916	T	0.75788	0.3897	M	0.85945	2.785	0.80722	D	1	P	0.46277	0.875	P	0.47402	0.546	T	0.72023	-0.4415	10	0.38643	T	0.18	.	4.2348	0.10620	0.2254:0.0:0.5074:0.2671	.	1708	Q8IZT6	ASPM_HUMAN	M	1708	ENSP00000356379:I1708M	ENSP00000356379:I1708M	I	-	3	3	ASPM	195339880	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	0.824000	0.27379	0.680000	0.31366	0.585000	0.79938	ATC		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		3	118	0	0	0	0.004672	0	3	118				
CAMSAP2	23271	broad.mit.edu	37	1	200819110	200819110	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:200819110A>G	ENST00000236925.4	+	12	3295	c.3246A>G	c.(3244-3246)gaA>gaG	p.E1082E	CAMSAP2_ENST00000358823.2_Silent_p.E1071E|CAMSAP2_ENST00000413307.2_Silent_p.E1055E			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1082					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.E1071E(1)									CAGTCTCTGAAGTCCTATCAC	0.443																																							uc001gvl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3244-3246)GAA>GAG		calmodulin regulated spectrin-associated protein							115.0	115.0	115.0					1																	200819110		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200819110A>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3246A>G	1.37:g.200819110A>G						CAMSAP1L1_uc001gvk.2_Silent_p.E1071E|CAMSAP1L1_uc001gvm.2_Silent_p.E1055E	p.E1082E	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	3516	+			1082					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.3246A>G																																																																																					0.443	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		19	90	0	0	0	0.006122	0	19	90				
IGFN1	91156	broad.mit.edu	37	1	201182572	201182572	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:201182572G>T	ENST00000335211.4	+	12	8681	c.8551G>T	c.(8551-8553)Ggg>Tgg	p.G2851W	IGFN1_ENST00000295591.8_Missense_Mutation_p.G11W|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	393						nucleus (GO:0005634)|Z disc (GO:0030018)		p.G11W(1)|p.G2851W(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGAACTGGGGGTGCCTGGA	0.597																																							uc001gwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(31-33)GGG>TGG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							54.0	47.0	50.0					1																	201182572		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182572G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8551G>T	1.37:g.201182572G>T	ENSP00000334714:p.Gly2851Trp					IGFN1_uc001gwb.2_Intron	p.G11W	NM_178275	NP_840059					1	803	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.31G>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.00|17.00	3.277809|3.277809	0.59758|0.59758	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.57107	.|0.42;0.45	3.54|3.54	2.3|2.3	0.28687|0.28687	.|.	0.218278|0.218278	0.18953|0.18953	U|U	0.126629|0.126629	T|T	0.73289|0.73289	0.3568|0.3568	M|M	0.92268|0.92268	3.29|3.29	0.09310|0.09310	N|N	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.63033	.|0.91	T|T	0.63910|0.63910	-0.6530|-0.6530	6|10	.|0.87932	.|D	.|0	.|.	9.6964|9.6964	0.40161|0.40161	0.131:0.0:0.869:0.0|0.131:0.0:0.869:0.0	.|.	.|2851	.|F8WAI1	.|.	V|W	268|2851;11	.|ENSP00000334714:G2851W;ENSP00000295591:G11W	.|ENSP00000295591:G11W	G|G	+|+	2|1	0|0	IGFN1|IGFN1	199449195|199449195	0.102000|0.102000	0.21896|0.21896	0.011000|0.011000	0.14972|0.14972	0.007000|0.007000	0.05969|0.05969	1.150000|1.150000	0.31639|0.31639	1.515000|1.515000	0.48885|0.48885	0.491000|0.491000	0.48974|0.48974	GGG|GGG		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		5	45	1	0	0.000602214	0.000602	0.000713082	5	45				
NAV1	89796	broad.mit.edu	37	1	201757598	201757598	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:201757598A>C	ENST00000367296.4	+	10	3418	c.2998A>C	c.(2998-3000)Agt>Cgt	p.S1000R	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S609R|NAV1_ENST00000295624.6_Missense_Mutation_p.S1000R|NAV1_ENST00000367297.4_Missense_Mutation_p.S1000R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1000					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1000R(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ccttccAGTGAGTCCCACTGC	0.652																																							uc001gwu.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2998-3000)AGT>CGT		neuron navigator 1							89.0	89.0	89.0					1																	201757598		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757598A>C	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2998A>C	1.37:g.201757598A>C	ENSP00000356265:p.Ser1000Arg					NAV1_uc001gwv.1_Missense_Mutation_p.S508R|NAV1_uc001gww.1_Missense_Mutation_p.S609R|NAV1_uc001gwx.2_Missense_Mutation_p.S609R|NAV1_uc001gwy.1_Missense_Mutation_p.S381R	p.S1000R	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			10	3345	+			1000					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.2998A>C	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.302961|4.302961	0.81136|0.81136	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295	.|T;T;T;T	.|0.16743	.|2.33;2.33;2.4;2.32	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.156974	.|0.56097	.|D	.|0.000021	T|T	0.41926|0.41926	0.1180|0.1180	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.71674	.|0.993;0.985;0.957;0.998;0.985	.|P;P;P;D;P	.|0.76575	.|0.808;0.775;0.865;0.988;0.693	T|T	0.35992|0.35992	-0.9766|-0.9766	5|10	.|0.87932	.|D	.|0	-11.2373|-11.2373	15.1055|15.1055	0.72319|0.72319	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1000;609;1000;508;1000	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	A|R	557|1000;1000;1000;508;609	.|ENSP00000356265:S1000R;ENSP00000295624:S1000R;ENSP00000356266:S1000R;ENSP00000356264:S609R	.|ENSP00000295624:S1000R	E|S	+|+	2|1	0|0	NAV1|NAV1	200024221|200024221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.343000|4.343000	0.59348|0.59348	2.044000|2.044000	0.60594|0.60594	0.459000|0.459000	0.35465|0.35465	GAG|AGT		0.652	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		9	88	0	0	0	0.006214	0	9	88				
KCNK2	3776	broad.mit.edu	37	1	215342594	215342594	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:215342594C>G	ENST00000444842.2	+	4	678	c.528C>G	c.(526-528)atC>atG	p.I176M	KCNK2_ENST00000391895.2_Missense_Mutation_p.I172M|KCNK2_ENST00000391894.2_Missense_Mutation_p.I161M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	176					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.I161M(1)|p.I176M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TCTGTATCATCTATGCCTTAC	0.373																																							uc001hkq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(526-528)ATC>ATG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						155.0	160.0	158.0					1																	215342594		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215342594C>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.528C>G	1.37:g.215342594C>G	ENSP00000394033:p.Ile176Met					KCNK2_uc001hko.2_Missense_Mutation_p.I172M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.I161M	p.I176M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	4	697	+			176			Helical; (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.528C>G	CCDS41467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.409522|3.409522	0.62399|0.62399	.|.	.|.	ENSG00000082482|ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842;ENST00000457122|ENST00000366948	T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37|.	6.16|6.16	5.26|5.26	0.73747|0.73747	Ion transport 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.52011|0.52011	1.625|1.625	0.53005|0.53005	D|D	0.999962|0.999962	P;P;P|.	0.41498|.	0.488;0.752;0.708|.	P;P;B|.	0.51055|.	0.521;0.657;0.419|.	T|T	0.65796|0.65796	-0.6081|-0.6081	10|6	0.59425|0.72032	D|D	0.04|0.01	.|.	11.3708|11.3708	0.49697|0.49697	0.0:0.8633:0.0:0.1367|0.0:0.8633:0.0:0.1367	.|.	161;176;172|.	O95069-2;O95069;O95069-3|.	.;KCNK2_HUMAN;.|.	M|C	172;161;176;120|133	ENSP00000375765:I172M;ENSP00000375764:I161M;ENSP00000394033:I176M;ENSP00000413460:I120M|.	ENSP00000375764:I161M|ENSP00000355915:S133C	I|S	+|+	3|2	3|0	KCNK2|KCNK2	213409217|213409217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.531000|1.531000	0.36018|0.36018	1.627000|1.627000	0.50400|0.50400	0.650000|0.650000	0.86243|0.86243	ATC|TCT		0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		6	100	0	0	0	0.001984	0	6	100				
TGFB2	7042	broad.mit.edu	37	1	218614594	218614594	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:218614594T>A	ENST00000366930.4	+	7	1602	c.1135T>A	c.(1135-1137)Tgc>Agc	p.C379S	TGFB2_ENST00000366929.4_Missense_Mutation_p.C407S|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C379S(1)|p.C407S(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGCTTCTCCTTGCTGCGTGTC	0.408																																							uc001hlm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1135-1137)TGC>AGC		transforming growth factor, beta 2 isoform 2							121.0	121.0	121.0					1																	218614594		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218614594T>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1135T>A	1.37:g.218614594T>A	ENSP00000355897:p.Cys379Ser					TGFB2_uc001hln.2_Missense_Mutation_p.C407S|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.C379S	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	7	1788	+			379					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.1135T>A	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571649	0.86542	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	D;D	0.94966	-3.57;-3.57	5.91	5.91	0.95273	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98152	1.0442	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	407;379	P61812-2;P61812	.;TGFB2_HUMAN	S	379;407	ENSP00000355897:C379S;ENSP00000355896:C407S	ENSP00000355896:C407S	C	+	1	0	TGFB2	216681217	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.845000	0.86875	2.254000	0.74563	0.533000	0.62120	TGC		0.408	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		8	133	0	0	0	0.00308	0	8	133				
IARS2	55699	broad.mit.edu	37	1	220287811	220287811	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:220287811C>G	ENST00000302637.5	+	12	1739	c.1635C>G	c.(1633-1635)atC>atG	p.I545M	IARS2_ENST00000366922.1_Missense_Mutation_p.I473M	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	545					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.I545M(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AATACTTGATCAACAGGTAGA	0.318																																							uc001hmc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1633-1635)ATC>ATG		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						139.0	138.0	139.0					1																	220287811		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220287811C>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1635C>G	1.37:g.220287811C>G	ENSP00000303279:p.Ile545Met						p.I545M	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	12	1739	+			545					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1635C>G	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509603	0.44660	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.40756	1.02;1.02	4.91	0.553	0.17235	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.201181	0.48286	D	0.000185	T	0.43700	0.1259	L	0.41906	1.305	0.47276	D	0.999371	D	0.63880	0.993	D	0.63033	0.91	T	0.32241	-0.9914	10	0.52906	T	0.07	-11.3606	4.2023	0.10473	0.3999:0.351:0.0:0.2491	.	545	Q9NSE4	SYIM_HUMAN	M	473;545	ENSP00000355889:I473M;ENSP00000303279:I545M	ENSP00000303279:I545M	I	+	3	3	IARS2	218354434	0.549000	0.26481	1.000000	0.80357	0.952000	0.60782	-0.300000	0.08243	0.207000	0.20607	-0.229000	0.12294	ATC		0.318	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		20	97	0	0	0	0.008871	0	20	97				
DUSP10	11221	broad.mit.edu	37	1	221912759	221912759	+	Missense_Mutation	SNP	T	T	A	rs148718278		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:221912759T>A	ENST00000366899.3	-	2	566	c.328A>T	c.(328-330)Acc>Tcc	p.T110S	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	110					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T110S(1)|p.T110A(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGGCAGGTGGTAGAGGTTCCG	0.572																																							uc001hmy.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(328-330)ACC>TCC		dual specificity phosphatase 10 isoform a							99.0	75.0	83.0					1																	221912759		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912759T>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.328A>T	1.37:g.221912759T>A	ENSP00000355866:p.Thr110Ser					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.T110S	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	510	-			110					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.328A>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446473	0.25987	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02258	4.37	5.76	0.672	0.17935	.	0.898628	0.09818	N	0.751876	T	0.01287	0.0042	N	0.08118	0	0.41875	D	0.990299	B	0.13594	0.008	B	0.09377	0.004	T	0.49744	-0.8907	10	0.18276	T	0.48	.	5.7614	0.18203	0.0:0.2741:0.2612:0.4646	.	110	Q9Y6W6	DUS10_HUMAN	S	110;55	ENSP00000355866:T110S	ENSP00000355866:T110S	T	-	1	0	DUSP10	219979382	0.001000	0.12720	0.433000	0.26760	0.991000	0.79684	-0.241000	0.08940	-0.123000	0.11745	0.482000	0.46254	ACC		0.572	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		9	18	0	0	0	0.006214	0	9	18				
DISP1	84976	broad.mit.edu	37	1	223178675	223178676	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:223178675_223178676GG>TT	ENST00000284476.6	+	8	4100_4101	c.3936_3937GG>TT	c.(3934-3939)gtGGca>gtTTca	p.A1313S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1313					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.A1313S(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)		AAAACGGCGTGGCACCTCTGAA	0.589																																							uc001hnu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3934-3939)GTGGCA>GTTTCA		dispatched A																																				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.chr1:223178675_223178676GG>TT	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	Exception_encountered	1.37:g.223178675_223178676delinsTT	ENSP00000284476:p.Ala1313Ser						p.A1313S	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4083_4084	+			1313					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	DNP	ENST00000284476.6	37	c.3936_3937GG>TT	CCDS1536.1																																																																																				0.589	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		19	82	0	0	0	0.004672	0	19	82				
CDC42BPA	8476	broad.mit.edu	37	1	227257519	227257519	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:227257519C>G	ENST00000366769.3	-	21	4154	c.2863G>C	c.(2863-2865)Gca>Cca	p.A955P	CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A955P|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A874P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A955P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A955P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A955P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.A955P(2)|p.A874P(1)		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)				TTCAAAAATGCCAAGAAAGAA	0.338																																							uc001hqr.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(2863-2865)GCA>CCA		CDC42-binding protein kinase alpha isoform B							94.0	87.0	89.0					1																	227257519		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.chr1:227257519C>G	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.2863G>C	1.37:g.227257519C>G	ENSP00000355731:p.Ala955Pro					CDC42BPA_uc001hqq.2_Missense_Mutation_p.A219P|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A874P|CDC42BPA_uc009xes.2_Missense_Mutation_p.A955P|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A111P|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A111P	p.A955P	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			21	3806	-		all_cancers(173;0.156)|Prostate(94;0.0792)	955						Missense_Mutation	SNP	ENST00000366769.3	37	c.2863G>C	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.59|17.59	3.427275|3.427275	0.62733|0.62733	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T|.	0.67865|.	0.93;0.93;0.93;0.93;-0.29;-0.2|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.097334|.	0.64402|.	D|.	0.000001|.	T|T	0.74756|0.74756	0.3758|0.3758	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D;P;P;D|.	0.89917|.	0.999;0.988;0.999;0.93;0.93;1.0|.	D;P;D;P;P;D|.	0.87578|.	0.974;0.737;0.986;0.721;0.721;0.998|.	T|T	0.71358|0.71358	-0.4617|-0.4617	10|5	0.32370|.	T|.	0.25|.	.|.	19.998|19.998	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	955;219;874;955;955;157|.	Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.|.	P|A	955;874;955;955;955;219;955|157;248;128	ENSP00000355731:A955P;ENSP00000355729:A874P;ENSP00000335341:A955P;ENSP00000355728:A955P;ENSP00000355726:A955P;ENSP00000355727:A955P|.	ENSP00000335341:A955P|.	A|G	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225324142|225324142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.330000|7.330000	0.79181|0.79181	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.338	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		3	48	0	0	0	0.000248	0	3	48				
MRPL55	128308	broad.mit.edu	37	1	228294558	228294558	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:228294558T>C	ENST00000411464.2	-	5	1083	c.290A>G	c.(289-291)gAg>gGg	p.E97G	MRPL55_ENST00000366734.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366735.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366733.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366736.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366731.5_Missense_Mutation_p.E133G|MRPL55_ENST00000348259.5_Missense_Mutation_p.E97G|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366741.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366740.1_Missense_Mutation_p.E97G|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000336300.5_Missense_Mutation_p.E97G|MRPL55_ENST00000366747.3_Missense_Mutation_p.E97G|MRPL55_ENST00000366744.1_Missense_Mutation_p.E97G|MRPL55_ENST00000430433.1_Missense_Mutation_p.E133G|MRPL55_ENST00000336520.3_Missense_Mutation_p.E97G|MRPL55_ENST00000366739.1_Missense_Mutation_p.E97G|MRPL55_ENST00000295008.4_Missense_Mutation_p.E97G|MRPL55_ENST00000366742.1_Missense_Mutation_p.E97G|MRPL55_ENST00000391867.3_Missense_Mutation_p.E97G|MRPL55_ENST00000366738.1_Missense_Mutation_p.E133G|MRPL55_ENST00000366732.1_Missense_Mutation_p.E94G|MRPL55_ENST00000366746.3_Missense_Mutation_p.E97G			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	97					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)	p.E97G(1)|p.E133G(1)		central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GAGCTGAGCCTCACGCTTCCG	0.597																																							uc001hry.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(289-291)GAG>GGG		mitochondrial ribosomal protein L55 isoform a							108.0	87.0	94.0					1																	228294558		2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228294558T>C	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.290A>G	1.37:g.228294558T>C	ENSP00000401737:p.Glu97Gly					MRPL55_uc001hrz.3_Missense_Mutation_p.E133G|MRPL55_uc009xex.2_Missense_Mutation_p.E97G|MRPL55_uc001hsa.3_Missense_Mutation_p.E97G|MRPL55_uc001hsb.3_Missense_Mutation_p.E97G|MRPL55_uc001hsc.3_Missense_Mutation_p.E97G|MRPL55_uc001hsd.3_Missense_Mutation_p.E97G|MRPL55_uc001hse.3_Missense_Mutation_p.E97G|MRPL55_uc001hsf.3_Missense_Mutation_p.E97G|MRPL55_uc001hsg.3_Missense_Mutation_p.E97G	p.E97G	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN			3	1034	-		Prostate(94;0.0405)	97					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.290A>G	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434683	0.25813	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	4.73	0.895	0.19247	.	0.547966	0.17418	N	0.174946	T	0.33440	0.0863	M	0.75447	2.3	0.09310	N	1	B;B	0.20988	0.05;0.046	B;B	0.22753	0.041;0.04	T	0.30327	-0.9982	10	0.46703	T	0.11	-12.8322	4.8053	0.13317	0.1431:0.1738:0.0:0.6831	.	133;97	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	G	94;97;97;97;97;133;97;97;97;97;97;97;97;97;97;97;97;133;97;133;97	ENSP00000355693:E94G;ENSP00000355694:E97G;ENSP00000355695:E97G;ENSP00000355696:E97G;ENSP00000355697:E97G;ENSP00000355699:E133G;ENSP00000355702:E97G;ENSP00000355701:E97G;ENSP00000355700:E97G;ENSP00000355703:E97G;ENSP00000355705:E97G;ENSP00000338189:E97G;ENSP00000355708:E97G;ENSP00000355707:E97G;ENSP00000295008:E97G;ENSP00000337342:E97G;ENSP00000337361:E97G;ENSP00000403614:E133G;ENSP00000375740:E97G;ENSP00000355692:E133G;ENSP00000401737:E97G	ENSP00000295008:E97G	E	-	2	0	MRPL55	226361181	0.463000	0.25799	0.013000	0.15412	0.021000	0.10359	0.647000	0.24812	0.223000	0.20920	0.459000	0.35465	GAG		0.597	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		6	64	0	0	0	0.001168	0	6	64				
OBSCN	84033	broad.mit.edu	37	1	228479799	228479799	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:228479799G>T	ENST00000422127.1	+	39	10584	c.10540G>T	c.(10540-10542)Gac>Tac	p.D3514Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D633Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3514Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.D3943Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D633Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2361Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3514	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D3797Y(1)|p.D3568Y(1)|p.D3514Y(1)|p.D3698Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCATGGCGGACGCCGGGGA	0.622																																							uc009xez.1		NA																	4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10540-10542)GAC>TAC		obscurin, cytoskeletal calmodulin and							107.0	115.0	112.0					1																	228479799		2117	4211	6328	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479799G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10540G>T	1.37:g.228479799G>T	ENSP00000409493:p.Asp3514Tyr					OBSCN_uc001hsn.2_Missense_Mutation_p.D3514Y|OBSCN_uc001hsq.1_Missense_Mutation_p.D770Y	p.D3514Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			39	10584	+		Prostate(94;0.0405)	3514			Ig-like 35.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10540G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784467	0.70222	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	H	0.99507	4.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97090	0.9790	10	0.87932	D	0	.	18.701	0.91620	0.0:0.0:1.0:0.0	.	3514;3514	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	3514;3514;633;633;2361	ENSP00000284548:D3514Y;ENSP00000409493:D3514Y;ENSP00000355668:D633Y;ENSP00000355670:D633Y;ENSP00000352613:D2361Y	ENSP00000284548:D3514Y	D	+	1	0	OBSCN	226546422	1.000000	0.71417	0.787000	0.31911	0.036000	0.12997	9.197000	0.94985	2.647000	0.89833	0.511000	0.50034	GAC		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		22	92	1	0	2.89027e-11	0.002299	4.45747e-11	22	92				
URB2	9816	broad.mit.edu	37	1	229771836	229771836	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:229771836G>T	ENST00000258243.2	+	4	1612	c.1476G>T	c.(1474-1476)tcG>tcT	p.S492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	492						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S492S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCTGGCCTCGGGCCCCTCCA	0.577																																							uc001hts.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1474-1476)TCG>TCT		URB2 ribosome biogenesis 2 homolog							109.0	115.0	113.0					1																	229771836		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229771836G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1476G>T	1.37:g.229771836G>T						URB2_uc009xfd.1_Silent_p.S492S	p.S492S	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1612	+			492					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1476G>T	CCDS31052.1																																																																																				0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		15	174	1	0	0.000422831	0.004007	0.000507039	15	174				
PCNXL2	80003	broad.mit.edu	37	1	233225832	233225832	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:233225832C>A	ENST00000258229.9	-	23	4285	c.4051G>T	c.(4051-4053)Gtg>Ttg	p.V1351L		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1351						integral component of membrane (GO:0016021)		p.V1351L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGAATTTCACTGGCCTGACA	0.423																																							uc001hvl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(4051-4053)GTG>TTG		pecanex-like 2							118.0	112.0	114.0					1																	233225832		1868	4122	5990	SO:0001583	missense	80003					integral to membrane		g.chr1:233225832C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4051G>T	1.37:g.233225832C>A	ENSP00000258229:p.Val1351Leu					PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_Intron	p.V1351L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			23	4286	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1351					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4051G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617055	0.46736	.	.	ENSG00000135749	ENST00000258229	T	0.08984	3.03	5.87	5.87	0.94306	.	0.181073	0.49916	D	0.000129	T	0.09024	0.0223	L	0.33485	1.01	0.80722	D	1	P	0.36495	0.556	B	0.38921	0.285	T	0.25187	-1.0139	10	0.32370	T	0.25	.	14.1972	0.65679	0.0:0.9232:0.0:0.0768	.	1351	A6NKB5	PCX2_HUMAN	L	1351	ENSP00000258229:V1351L	ENSP00000258229:V1351L	V	-	1	0	PCNXL2	231292455	0.782000	0.28689	0.998000	0.56505	0.965000	0.64279	1.478000	0.35442	2.941000	0.99782	0.655000	0.94253	GTG		0.423	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		22	64	1	0	2.70639e-06	0.002299	3.59582e-06	22	64				
EXO1	9156	broad.mit.edu	37	1	242042435	242042435	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:242042435C>T	ENST00000366548.3	+	13	2492	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	EXO1_ENST00000518483.1_Silent_p.F633F|EXO1_ENST00000348581.5_Silent_p.F633F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	633	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.F633F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGCAGCAGTTCCGAAGAAAGA	0.488								Editing and processing nucleases																															uc001hzh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1897-1899)TTC>TTT	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							86.0	81.0	82.0					1																	242042435		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042435C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1899C>T	1.37:g.242042435C>T						EXO1_uc001hzi.2_Silent_p.F633F|EXO1_uc001hzj.2_Silent_p.F633F|EXO1_uc009xgq.2_Silent_p.F632F	p.F633F	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2439	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	633			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1899C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578843	0.13686	.	.	ENSG00000174371	ENST00000521202	.	.	.	5.72	-0.685	0.11328	.	.	.	.	.	T	0.44265	0.1285	.	.	.	0.36278	D	0.855609	.	.	.	.	.	.	T	0.43327	-0.9398	4	.	.	.	-13.3497	5.0325	0.14417	0.0:0.2707:0.1703:0.5591	.	.	.	.	S	32	.	.	P	+	1	0	EXO1	240109058	0.700000	0.27796	0.450000	0.26969	0.105000	0.19272	0.582000	0.23834	-0.011000	0.14247	-0.143000	0.13931	CCG		0.488	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		8	94	0	0	0	0.00308	0	8	94				
OR2T33	391195	broad.mit.edu	37	1	248436663	248436663	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:248436663C>G	ENST00000318021.2	-	1	475	c.454G>C	c.(454-456)Gct>Cct	p.A152P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A152P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AGCCCGTCAGCTGCACCCAGG	0.587																																							uc010pzi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(454-456)GCT>CCT		olfactory receptor, family 2, subfamily T,							117.0	111.0	113.0					1																	248436663		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436663C>G		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.454G>C	1.37:g.248436663C>G	ENSP00000324687:p.Ala152Pro						p.A152P	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	454	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152			Helical; Name=4; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.454G>C	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.505	1.104228	0.20632	.	.	ENSG00000177212	ENST00000318021	T	0.38560	1.13	2.7	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.882556	0.09242	U	0.829053	T	0.42337	0.1198	N	0.16602	0.42	0.09310	N	1	D	0.57257	0.979	P	0.62649	0.905	T	0.28586	-1.0039	10	0.87932	D	0	.	6.1231	0.20164	0.0:0.6846:0.1911:0.1243	.	152	Q8NG76	O2T33_HUMAN	P	152	ENSP00000324687:A152P	ENSP00000324687:A152P	A	-	1	0	OR2T33	246503286	0.000000	0.05858	0.532000	0.27989	0.014000	0.08584	-2.607000	0.00887	0.408000	0.25621	0.494000	0.49563	GCT		0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		23	126	0	0	0	0.007291	0	23	126				
OR2T4	127074	broad.mit.edu	37	1	248525228	248525228	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:248525228G>T	ENST00000366475.1	+	1	346	c.346G>T	c.(346-348)Gac>Tac	p.D116Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D116Y(1)		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)			GATGCTCCTGGACCAGGTCAT	0.498																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(346-348)GAC>TAC		olfactory receptor, family 2, subfamily T,							248.0	188.0	209.0					1																	248525228		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525228G>T	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.346G>T	1.37:g.248525228G>T	ENSP00000355431:p.Asp116Tyr						p.D116Y	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	346	+	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)		116			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.346G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	7.437	0.639895	0.14386	.	.	ENSG00000196944	ENST00000366475	T	0.00922	5.54	3.48	-2.43	0.06522	GPCR, rhodopsin-like superfamily (1);	0.412431	0.20456	N	0.091985	T	0.02649	0.0080	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.23226	-1.0194	10	0.87932	D	0	.	5.8533	0.18707	0.5218:0.0:0.3487:0.1295	.	116	Q8NH00	OR2T4_HUMAN	Y	116	ENSP00000355431:D116Y	ENSP00000355431:D116Y	D	+	1	0	OR2T4	246591851	0.000000	0.05858	0.016000	0.15963	0.038000	0.13279	0.033000	0.13754	-0.676000	0.05238	-0.350000	0.07774	GAC		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		19	333	1	0	4.96729e-08	0.008871	6.99375e-08	19	333				
TUBB8	347688	broad.mit.edu	37	10	93572	93573	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:93572_93573CC>AG	ENST00000309812.4	-	4	821_822	c.759_760GG>CT	c.(757-762)ctGGcc>ctCTcc	p.A254S	TUBB8_ENST00000447903.2_Missense_Mutation_p.A182S|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	254					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A254S(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATGTTCACGGCCAGCTTCCGCA	0.639																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-762)CTGGCC>CTCTCC		tubulin, beta 8 isoform 1																																				SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93572_93573CC>AG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.759_760delinsAG	10.37:g.93572_93573delinsAG	ENSP00000311042:p.Ala254Ser					TUBB8_uc009xhe.2_Missense_Mutation_p.A217S|TUBB8_uc010pzs.1_Missense_Mutation_p.A182S	p.A254S	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	759_760	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	254					Q5SQX9|Q8WZ78	Missense_Mutation	DNP	ENST00000309812.4	37	c.759_760GG>CT	CCDS7051.1																																																																																				0.639	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		4	41	0	0	0	0.004672	0	4	41				
ARMC3	219681	broad.mit.edu	37	10	23270395	23270395	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:23270395G>T	ENST00000298032.5	+	9	1127	c.1043G>T	c.(1042-1044)gGc>gTc	p.G348V	ARMC3_ENST00000409049.3_Missense_Mutation_p.G348V|ARMC3_ENST00000376528.4_Missense_Mutation_p.G85V|ARMC3_ENST00000409983.3_Missense_Mutation_p.G348V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	348						extracellular vesicular exosome (GO:0070062)		p.G348V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGAATTCAGGCAGCAAAGAT	0.373																																							uc001irm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GGC>GTC		armadillo repeat containing 3							78.0	78.0	78.0					10																	23270395		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23270395G>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1043G>T	10.37:g.23270395G>T	ENSP00000298032:p.Gly348Val					ARMC3_uc010qcv.1_Missense_Mutation_p.G348V|ARMC3_uc010qcw.1_Missense_Mutation_p.G85V	p.G348V	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			9	1126	+			348			ARM 9.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1043G>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032926	0.19590	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.05	-0.613	0.11594	Armadillo-like helical (1);Armadillo-type fold (1);	0.596718	0.17567	N	0.169615	T	0.16727	0.0402	L	0.34521	1.04	0.24143	N	0.995727	B;B	0.33883	0.014;0.43	B;B	0.37833	0.016;0.259	T	0.14476	-1.0471	10	0.38643	T	0.18	-19.5282	4.8583	0.13570	0.1428:0.5728:0.165:0.1194	.	348;348	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	348;348;284;348;85	ENSP00000298032:G348V;ENSP00000386943:G348V;ENSP00000387288:G348V;ENSP00000365711:G85V	ENSP00000298032:G348V	G	+	2	0	ARMC3	23310401	0.003000	0.15002	0.372000	0.25991	0.982000	0.71751	0.195000	0.17155	0.205000	0.20568	-0.305000	0.09177	GGC		0.373	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		11	64	1	0	9.31168e-06	0.001855	1.20604e-05	11	64				
ENKUR	219670	broad.mit.edu	37	10	25284575	25284575	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:25284575C>G	ENST00000331161.4	-	3	666	c.447G>C	c.(445-447)aaG>aaC	p.K149N	ENKUR_ENST00000376363.1_Splice_Site_p.K149N	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	149						motile cilium (GO:0031514)		p.K149N(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ACAAGGCTACCTTTTTATTGA	0.338																																							uc001isg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)AAG>AAC		enkurin							122.0	120.0	120.0					10																	25284575		2203	4300	6503	SO:0001630	splice_region_variant	219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25284575C>G	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.447+1G>C	10.37:g.25284575C>G						ENKUR_uc001ish.1_Missense_Mutation_p.K87N	p.K149N	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN			3	612	-			149					A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	c.447G>C	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407195	0.83230	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.85326	0.1087	8	.	.	.	-18.2625	19.9576	0.97228	0.0:1.0:0.0:0.0	.	149;149	Q5VV23;Q8TC29	.;ENKUR_HUMAN	N	149	.	.	K	-	3	2	ENKUR	25324581	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.223000	0.72257	2.885000	0.99019	0.655000	0.94253	AAG		0.338	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010	Missense_Mutation	33	155	0	0	0	0.002096	0	33	155				
MYO3A	53904	broad.mit.edu	37	10	26463396	26463396	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:26463396G>T	ENST00000265944.5	+	30	4369	c.4203G>T	c.(4201-4203)gaG>gaT	p.E1401D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1401					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)	p.E1401D(1)		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						CAAAACATGAGGAAATCAATA	0.358																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4201-4203)GAG>GAT		myosin IIIA							113.0	113.0	113.0					10																	26463396		2203	4300	6503	SO:0001583	missense	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.chr10:26463396G>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.4203G>T	10.37:g.26463396G>T	ENSP00000265944:p.Glu1401Asp					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.E1401D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4563	+			1401					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4203G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577731	0.28180	.	.	ENSG00000095777	ENST00000265944	T	0.77750	-1.12	5.94	-3.08	0.05347	.	0.487993	0.25178	N	0.032560	T	0.56077	0.1961	N	0.22421	0.69	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.43310	-0.9399	10	0.42905	T	0.14	.	6.4509	0.21903	0.454:0.0:0.4328:0.1132	.	1401	Q8NEV4	MYO3A_HUMAN	D	1401	ENSP00000265944:E1401D	ENSP00000265944:E1401D	E	+	3	2	MYO3A	26503402	0.850000	0.29656	0.000000	0.03702	0.056000	0.15407	0.117000	0.15583	-0.268000	0.09312	-0.986000	0.02555	GAG		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		21	92	1	0	1.55795e-14	0.001882	2.5412e-14	21	92				
CSGALNACT2	55454	broad.mit.edu	37	10	43650878	43650878	+	Missense_Mutation	SNP	G	G	T	rs150048164		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:43650878G>T	ENST00000374466.3	+	2	616	c.281G>T	c.(280-282)cGg>cTg	p.R94L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					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)	p.R94L(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAAGATGCGGTCACTGCAA	0.423																																							uc001jan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)CGG>CTG		chondroitin sulfate							63.0	54.0	57.0					10																	43650878		2203	4300	6503	SO:0001583	missense	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.chr10:43650878G>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.281G>T	10.37:g.43650878G>T	ENSP00000363590:p.Arg94Leu					CSGALNACT2_uc001jam.1_Missense_Mutation_p.R94L	p.R94L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	616	+			94			Lumenal (Potential).|Potential.		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.281G>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499054	0.44455	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78246	2.5;-1.16	5.56	4.66	0.58398	.	0.122893	0.64402	D	0.000001	T	0.68933	0.3055	L	0.34521	1.04	0.42629	D	0.993379	P;P	0.40302	0.549;0.712	B;B	0.41666	0.154;0.363	T	0.71889	-0.4456	10	0.72032	D	0.01	-12.2648	9.3098	0.37898	0.2063:0.0:0.7937:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	L	94	ENSP00000363590:R94L;ENSP00000363588:R94L	ENSP00000363588:R94L	R	+	2	0	CSGALNACT2	42970884	0.992000	0.36948	0.975000	0.42487	0.801000	0.45260	2.466000	0.45084	1.482000	0.48325	0.650000	0.86243	CGG		0.423	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		14	46	1	0	1.05317e-09	0.00245	1.55638e-09	14	46				
GDF2	2658	broad.mit.edu	37	10	48414410	48414410	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:48414410T>C	ENST00000249598.1	-	2	617	c.458A>G	c.(457-459)tAt>tGt	p.Y153C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	153					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y153C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACAGGAGACATAGAGTCGGAG	0.493																																							uc001jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(457-459)TAT>TGT		growth differentiation factor 2 precursor							72.0	66.0	68.0					10																	48414410		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414410T>C	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.458A>G	10.37:g.48414410T>C	ENSP00000249598:p.Tyr153Cys						p.Y153C	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	621	-			153					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.458A>G	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557355	0.45590	.	.	ENSG00000128802	ENST00000249598	T	0.71222	-0.55	5.55	5.55	0.83447	Transforming growth factor-beta, N-terminal (1);	0.333502	0.36444	N	0.002599	T	0.68924	0.3054	M	0.79258	2.445	0.22446	N	0.999095	B	0.17038	0.02	B	0.23852	0.049	T	0.65253	-0.6213	10	0.87932	D	0	.	6.0069	0.19551	0.1458:0.0779:0.0:0.7763	.	153	Q9UK05	GDF2_HUMAN	C	153	ENSP00000249598:Y153C	ENSP00000249598:Y153C	Y	-	2	0	GDF2	48034416	0.944000	0.32072	0.780000	0.31762	0.905000	0.53344	2.838000	0.48199	2.106000	0.64143	0.482000	0.46254	TAT		0.493	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		9	56	0	0	0	0.004482	0	9	56				
DNA2	1763	broad.mit.edu	37	10	70231550	70231550	+	Missense_Mutation	SNP	C	C	G	rs556723627	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:70231550C>G	ENST00000358410.3	-	1	122	c.72G>C	c.(70-72)gaG>gaC	p.E24D	DNA2_ENST00000399179.2_Missense_Mutation_p.E24D|DNA2_ENST00000399180.2_Missense_Mutation_p.E110D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	24					ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.E24D(1)|p.E110D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCGCTCACAGCTCCGCCGGCA	0.632																																							uc001jof.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(328-330)GAG>GAC		DNA replication helicase 2 homolog							17.0	19.0	18.0					10																	70231550		1926	4121	6047	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70231550C>G	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.72G>C	10.37:g.70231550C>G	ENSP00000351185:p.Glu24Asp					DNA2_uc001jog.1_Missense_Mutation_p.E24D|DNA2_uc001joh.1_RNA	p.E110D	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			1	330	-			24					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.330G>C		.	.	.	.	.	.	.	.	.	.	C	13.81	2.347451	0.41599	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93859	-2.83;-3.3;-2.78	4.58	1.39	0.22231	.	0.494186	0.19368	N	0.115970	D	0.87188	0.6115	L	0.31664	0.95	0.09310	N	1	B;D	0.61080	0.004;0.989	B;P	0.48270	0.004;0.572	T	0.78976	-0.1991	10	0.11485	T	0.65	.	6.1997	0.20569	0.0:0.5305:0.3672:0.1023	.	24;24	F8VR31;P51530	.;DNA2L_HUMAN	D	24;110;24;24	ENSP00000382133:E110D;ENSP00000382132:E24D;ENSP00000351185:E24D	ENSP00000351185:E24D	E	-	3	2	DNA2	69901556	0.007000	0.16637	0.058000	0.19502	0.004000	0.04260	0.041000	0.13927	0.643000	0.30638	0.460000	0.39030	GAG		0.632	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			4	29	0	0	0	0.000248	0	4	29				
PALD1	27143	broad.mit.edu	37	10	72292490	72292490	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:72292490G>C	ENST00000263563.6	+	6	1015	c.747G>C	c.(745-747)gtG>gtC	p.V249V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	249						cytosol (GO:0005829)		p.V249V(1)									ACTTGCATGTGACGGAGGAGG	0.627																																							uc001jrd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(745-747)GTG>GTC		KIAA1274							191.0	163.0	172.0					10																	72292490		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72292490G>C	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.747G>C	10.37:g.72292490G>C							p.V249V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			6	1028	+			249					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.747G>C	CCDS31215.1																																																																																				0.627	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		15	103	0	0	0	0.00499	0	15	103				
PRF1	5551	broad.mit.edu	37	10	72360525	72360525	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:72360525C>A	ENST00000441259.1	-	2	294	c.134G>T	c.(133-135)gGg>gTg	p.G45V	PRF1_ENST00000373209.2_Missense_Mutation_p.G45V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	45	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.G45V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACACCCTCCCCGGCCAGCCA	0.677			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3	GRCh37	CM040245	PRF1	M		c.(133-135)GGG>GTG		perforin 1 precursor							30.0	32.0	31.0					10																	72360525		2203	4298	6501	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360525C>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.134G>T	10.37:g.72360525C>A	ENSP00000398568:p.Gly45Val					PRF1_uc001jrf.3_Missense_Mutation_p.G45V	p.G45V	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	295	-			45			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.134G>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574856	0.65878	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.95918	-3.85;-3.85	5.7	5.7	0.88788	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.98058	0.9360	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98779	1.0731	10	0.87932	D	0	-41.8319	17.3368	0.87283	0.0:1.0:0.0:0.0	.	45	P14222	PERF_HUMAN	V	45	ENSP00000362305:G45V;ENSP00000398568:G45V	ENSP00000316746:G45V	G	-	2	0	PRF1	72030531	1.000000	0.71417	0.391000	0.26233	0.093000	0.18481	6.707000	0.74654	2.679000	0.91253	0.655000	0.94253	GGG		0.677	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	58	1	0	0.00307968	0.00308	0.0035357	7	58				
CDH23	64072	broad.mit.edu	37	10	73548714	73548714	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:73548714G>C	ENST00000224721.6	+	44	5858	c.5853G>C	c.(5851-5853)ctG>ctC	p.L1951L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1946	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.L1951L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTTGCTTCTGATCTTCCTTT	0.557																																							uc001jrx.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(5836-5838)CTG>CTC		cadherin-like 23 isoform 1 precursor							138.0	133.0	134.0					10																	73548714		1925	4124	6049	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73548714G>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5853G>C	10.37:g.73548714G>C							p.L1946L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			43	6215	+			1946			Cadherin 18.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5838G>C																																																																																					0.557	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	40	0	0	0	0.004482	0	9	40				
CDH23	64072	broad.mit.edu	37	10	73548780	73548780	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:73548780G>A	ENST00000224721.6	+	44	5924	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1968	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V1973V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGCAGAGGTGATGGAAAACT	0.567																																							uc001jrx.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(5902-5904)GTG>GTA		cadherin-like 23 isoform 1 precursor							95.0	87.0	90.0					10																	73548780		1865	4093	5958	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73548780G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5919G>A	10.37:g.73548780G>A							p.V1968V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			43	6281	+			1968			Cadherin 19.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5904G>A																																																																																					0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		10	34	0	0	0	0.001368	0	10	34				
PDE6C	5146	broad.mit.edu	37	10	95421882	95421882	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:95421882C>A	ENST00000371447.3	+	19	2413	c.2275C>A	c.(2275-2277)Caa>Aaa	p.Q759K	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	759					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.Q759K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GTTGCAGCAACAACCCATTGT	0.438																																							uc001kiu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2275-2277)CAA>AAA		phosphodiesterase 6C							136.0	131.0	133.0					10																	95421882		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95421882C>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2275C>A	10.37:g.95421882C>A	ENSP00000360502:p.Gln759Lys						p.Q759K	NM_006204	NP_006195	P51160	PDE6C_HUMAN			19	2413	+		Colorectal(252;0.123)	759					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.2275C>A	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073413	0.55646	.	.	ENSG00000095464	ENST00000371447	T	0.76709	-1.04	4.98	4.98	0.66077	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.116817	0.64402	D	0.000007	T	0.74419	0.3714	L	0.49126	1.545	0.80722	D	1	B	0.16166	0.016	B	0.18871	0.023	T	0.70099	-0.4965	10	0.40728	T	0.16	.	18.0415	0.89320	0.0:1.0:0.0:0.0	.	759	P51160	PDE6C_HUMAN	K	759	ENSP00000360502:Q759K	ENSP00000360502:Q759K	Q	+	1	0	PDE6C	95411872	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.305000	0.59110	2.591000	0.87537	0.655000	0.94253	CAA		0.438	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		3	44	1	0	0.004672	0.004672	0.00530994	3	44				
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	T	rs138112316		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:96612523G>T	ENST00000371321.3	+	9	1407	c.1325G>T	c.(1324-1326)cGc>cTc	p.R442L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	442			R -> C (in allele CYP2C19*16; lowered catalytic activity; dbSNP:rs192154563). {ECO:0000269|PubMed:15499191}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|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)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R442H(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCTGGCCCGCATGGAGCTG	0.433																																							uc010qnz.1		NA																	3	Substitution - Missense(3)		lung(1)|large_intestine(1)|prostate(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1324-1326)CGC>CTC		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	LEU/ARG	2,4404	4.2+/-10.8	0,2,2201	136.0	127.0	130.0		1325	3.2	1.0	10	dbSNP_134	130	0,8600		0,0,4300	no	missense	CYP2C19	NM_000769.1	102	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	probably-damaging	442/491	96612523	2,13004	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612523G>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1325G>T	10.37:g.96612523G>T	ENSP00000360372:p.Arg442Leu					CYP2C19_uc010qny.1_Missense_Mutation_p.R420L	p.R442L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1325	+		Colorectal(252;0.09)	442		R -> C (in allele CYP2C19*16; lowered catalytic activity).			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1325G>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160222	0.78226	4.54E-4	0.0	ENSG00000165841	ENST00000371321	T	0.70045	-0.45	3.19	3.19	0.36642	.	0.000000	0.64402	U	0.000003	T	0.66036	0.2749	M	0.76574	2.34	0.36637	D	0.876654	P	0.40332	0.713	B	0.39562	0.303	T	0.76950	-0.2769	10	0.72032	D	0.01	.	12.2643	0.54668	0.0:0.0:1.0:0.0	.	442	P33261	CP2CJ_HUMAN	L	442	ENSP00000360372:R442L	ENSP00000360372:R442L	R	+	2	0	CYP2C19	96602513	0.985000	0.35326	0.998000	0.56505	0.918000	0.54935	5.208000	0.65203	1.492000	0.48499	0.597000	0.82753	CGC		0.433	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		8	112	1	0	7.48243e-07	0.006214	1.01075e-06	8	112				
MGEA5	10724	broad.mit.edu	37	10	103547259	103547259	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:103547259C>T	ENST00000361464.3	-	15	2871	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	MGEA5_ENST00000439817.1_Missense_Mutation_p.E773K|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E759K	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	826					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.E826K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCCTGTTCTTCATGGAAACTC	0.363																																							uc001ktv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2476-2478)GAA>AAA		meningioma expressed antigen 5 (hyaluronidase)							123.0	121.0	122.0					10																	103547259		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103547259C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2476G>A	10.37:g.103547259C>T	ENSP00000354850:p.Glu826Lys					MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.E773K|MGEA5_uc009xws.2_Missense_Mutation_p.E759K	p.E826K	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	15	2919	-		Colorectal(252;0.207)	826			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.2476G>A	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953131	0.53293	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.31769	1.48;1.48;1.48	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.40543	1.245	0.80722	D	1	P;D;P	0.56035	0.907;0.974;0.938	B;P;P	0.53861	0.444;0.736;0.554	T	0.01819	-1.1267	10	0.26408	T	0.33	-21.5826	20.0959	0.97842	0.0:1.0:0.0:0.0	.	773;759;826	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	K	773;826;759	ENSP00000409973:E773K;ENSP00000354850:E826K;ENSP00000350445:E759K	ENSP00000350445:E759K	E	-	1	0	MGEA5	103537249	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.442000	0.80503	2.819000	0.97034	0.650000	0.86243	GAA		0.363	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		6	90	0	0	0	0.001168	0	6	90				
PNLIP	5406	broad.mit.edu	37	10	118314905	118314905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:118314905G>T	ENST00000369221.2	+	8	725	c.697G>T	c.(697-699)Gga>Tga	p.G233*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	233					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)	p.G233*(2)		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)	TTCAGGGTTTGGAATGAGCCA	0.423																																							uc001lcm.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(697-699)GGA>TGA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						103.0	103.0	103.0					10																	118314905		2203	4300	6503	SO:0001587	stop_gained	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314905G>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.697G>T	10.37:g.118314905G>T	ENSP00000358223:p.Gly233*						p.G233*	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	8	740	+			233					Q5VSQ2	Nonsense_Mutation	SNP	ENST00000369221.2	37	c.697G>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	37	5.988003	0.97179	.	.	ENSG00000175535	ENST00000369221	.	.	.	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000358223:G233X	G	+	1	0	PNLIP	118304895	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	8.029000	0.88807	2.937000	0.99478	0.650000	0.86243	GGA		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		6	73	1	0	0.00198382	0.001984	0.0022822	6	73				
FAM45A	404636	broad.mit.edu	37	10	120889070	120889070	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:120889070A>C	ENST00000361432.2	+	7	764	c.738A>C	c.(736-738)ccA>ccC	p.P246P	FAM45A_ENST00000535029.1_3'UTR|FAM45A_ENST00000544016.1_Silent_p.P95P|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	246								p.P246P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GCAACAGACCAGACCTCTATG	0.433																																							uc001ldw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(736-738)CCA>CCC		hypothetical protein LOC404636							241.0	192.0	209.0					10																	120889070		2203	4298	6501	SO:0001819	synonymous_variant	404636							g.chr10:120889070A>C	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.738A>C	10.37:g.120889070A>C						FAM45A_uc010qsv.1_Silent_p.P238P|FAM45A_uc010qsw.1_Silent_p.P95P|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Silent_p.P173P|FAM45A_uc010qsz.1_Silent_p.P135P	p.P246P	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	7	782	+		Lung NSC(174;0.094)|all_lung(145;0.123)	246					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	c.738A>C	CCDS7609.1																																																																																				0.433	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		4	53	0	0	0	0.000248	0	4	53				
MKI67	4288	broad.mit.edu	37	10	129905011	129905011	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:129905011C>G	ENST00000368654.3	-	13	5468	c.5093G>C	c.(5092-5094)aGa>aCa	p.R1698T	MKI67_ENST00000368653.3_Missense_Mutation_p.R1338T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1698	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1698T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTAGGAGTTCTCAGCTGCCT	0.478																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5092-5094)AGA>ACA		antigen identified by monoclonal antibody Ki-67							100.0	87.0	91.0					10																	129905011		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905011C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5093G>C	10.37:g.129905011C>G	ENSP00000357643:p.Arg1698Thr					MKI67_uc001lkf.2_Missense_Mutation_p.R1338T|MKI67_uc009yav.1_Missense_Mutation_p.R1273T|MKI67_uc009yaw.1_Missense_Mutation_p.R848T	p.R1698T	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5288	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1698			6.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5093G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076893	0.20227	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02763	4.17;4.17	3.61	0.413	0.16401	.	1.534110	0.04749	N	0.424247	T	0.04182	0.0116	L	0.39397	1.21	0.09310	N	1	P;P;P	0.48503	0.9;0.911;0.684	P;P;P	0.47891	0.451;0.56;0.506	T	0.42616	-0.9441	10	0.14252	T	0.57	.	5.3428	0.15992	0.0:0.5866:0.1447:0.2687	.	1697;1338;1698	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1698;1338;1697	ENSP00000357643:R1698T;ENSP00000357642:R1338T	ENSP00000357642:R1338T	R	-	2	0	MKI67	129795001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-0.161000	0.10983	-0.448000	0.05591	AGA		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	76	0	0	0	0.004482	0	9	76				
MKI67	4288	broad.mit.edu	37	10	129913540	129913540	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:129913540C>A	ENST00000368654.3	-	7	1507	c.1132G>T	c.(1132-1134)Ggt>Tgt	p.G378C	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	378					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G378C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCACTTTTACCCAGATTCACA	0.398																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1132-1134)GGT>TGT		antigen identified by monoclonal antibody Ki-67							124.0	128.0	127.0					10																	129913540		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913540C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1132G>T	10.37:g.129913540C>A	ENSP00000357643:p.Gly378Cys					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.G378C	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1327	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	378					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1132G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434330	0.43224	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01359	4.98	4.0	3.1	0.35709	.	1.559110	0.03820	N	0.267413	T	0.03178	0.0093	N	0.14661	0.345	0.18873	N	0.999989	D	0.69078	0.997	P	0.61328	0.887	T	0.51903	-0.8646	10	0.87932	D	0	.	7.6604	0.28400	0.0:0.8836:0.0:0.1164	.	378	P46013	KI67_HUMAN	C	378	ENSP00000357643:G378C	ENSP00000357643:G378C	G	-	1	0	MKI67	129803530	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.368000	0.07543	1.040000	0.40099	0.655000	0.94253	GGT		0.398	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		12	131	1	0	1.61879e-10	0.001368	2.4368e-10	12	131				
JAKMIP3	282973	broad.mit.edu	37	10	133948583	133948583	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:133948583G>T	ENST00000298622.4	+	4	1026	c.888G>T	c.(886-888)caG>caT	p.Q296H		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	296						Golgi apparatus (GO:0005794)		p.Q296H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCGCTTCCAGCTTAAAATCG	0.512																																							uc001lkx.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(886-888)CAG>CAT		Janus kinase and microtubule interacting protein							67.0	68.0	68.0					10																	133948583		1872	4092	5964	SO:0001583	missense	282973							g.chr10:133948583G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.888G>T	10.37:g.133948583G>T	ENSP00000298622:p.Gln296His						p.Q296H	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	888	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.888G>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787569	0.49997	.	.	ENSG00000188385	ENST00000298622	T	0.29142	1.58	4.21	-5.62	0.02481	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.73598	2.24	0.38625	D	0.95124	D	0.76494	0.999	D	0.85130	0.997	T	0.56282	-0.8005	10	0.52906	T	0.07	-23.0404	14.2004	0.65699	0.3857:0.0:0.6143:0.0	.	296	Q5VZ66	JKIP3_HUMAN	H	296	ENSP00000298622:Q296H	ENSP00000298622:Q296H	Q	+	3	2	JAKMIP3	133798573	0.982000	0.34865	0.926000	0.36857	0.647000	0.38526	0.101000	0.15251	-1.087000	0.03081	-0.345000	0.07892	CAG		0.512	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		5	40	1	0	0.000602214	0.000602	0.000713082	5	40				
FRG2B	441581	broad.mit.edu	37	10	135440223	135440223	+	Silent	SNP	G	G	T	rs533380259		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:135440223G>T	ENST00000425520.1	-	1	76	c.24C>A	c.(22-24)ccC>ccA	p.P8P	FRG2B_ENST00000443774.1_Silent_p.P8P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	8						nucleus (GO:0005634)		p.P8P(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGTGGAGATCGGGGTCTTCAT	0.507																																							uc010qvg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CCC>CCA		FSHD region gene 2 family, member B							281.0	309.0	300.0					10																	135440223		2203	4300	6503	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135440223G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.24C>A	10.37:g.135440223G>T							p.P8P	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	77	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	8					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.24C>A	CCDS44502.1																																																																																				0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		6	316	1	0	2.62699e-14	0.003163	4.27263e-14	6	316				
MUC5B	727897	broad.mit.edu	37	11	1263496	1263496	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:1263496G>A	ENST00000529681.1	+	31	5444	c.5386G>A	c.(5386-5388)Gtg>Atg	p.V1796M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V1799M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1796	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.V1796M(1)|p.V1799M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGTTTGACGTGGACTTCCC	0.572																																							uc009ycr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(7465-7467)GTG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							59.0	69.0	66.0					11																	1263496		2078	4207	6285	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263496G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5386G>A	11.37:g.1263496G>A	ENSP00000436812:p.Val1796Met					MUC5B_uc001ltb.2_Missense_Mutation_p.V1799M	p.V2489M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7591	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1796			7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7465G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	9.280	1.047787	0.19827	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.27	4.32	1.35	0.21983	.	.	.	.	.	T	0.25158	0.0611	M	0.76002	2.32	0.09310	N	1	D;D	0.63880	0.983;0.993	P;P	0.50231	0.635;0.635	T	0.13818	-1.0495	9	0.87932	D	0	.	4.3765	0.11272	0.3165:0.0:0.5288:0.1547	.	2489;1799	A7Y9J9;E9PBJ0	.;.	M	1796;1799;1797;1866	ENSP00000436812:V1796M;ENSP00000415793:V1799M	ENSP00000343037:V1797M	V	+	1	0	MUC5B	1220072	0.000000	0.05858	0.030000	0.17652	0.813000	0.45954	0.177000	0.16801	0.822000	0.34565	0.306000	0.20318	GTG		0.572	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	61	0	0	0	0.00308	0	7	61				
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:4944910G>T	ENST00000321961.2	-	1	727	c.660C>A	c.(658-660)taC>taA	p.Y220*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547																																							uc010qyr.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(658-660)TAC>TAA		olfactory receptor, family 51, subfamily G,							115.0	95.0	102.0					11																	4944910		2201	4298	6499	SO:0001587	stop_gained	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944910G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.660C>A	11.37:g.4944910G>T	ENSP00000322546:p.Tyr220*						p.Y220*	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	660	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	220			Cytoplasmic (Potential).		B9EGW8|Q6IFH6	Nonsense_Mutation	SNP	ENST00000321961.2	37	c.660C>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361474	0.24684	.	.	ENSG00000176879	ENST00000321961	.	.	.	4.28	0.495	0.16890	.	0.000000	0.35739	U	0.003015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0499	0.36369	0.7327:0.0:0.2673:0.0	.	.	.	.	X	220	.	ENSP00000322546:Y220X	Y	-	3	2	OR51G1	4901486	0.000000	0.05858	0.431000	0.26735	0.015000	0.08874	-0.172000	0.09868	-0.076000	0.12775	-1.280000	0.01385	TAC		0.547	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		13	57	1	0	4.36969e-10	0.001855	6.49146e-10	13	57				
OR52E2	119678	broad.mit.edu	37	11	5080148	5080148	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:5080148T>A	ENST00000321522.2	-	1	709	c.710A>T	c.(709-711)aAg>aTg	p.K237M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K237M(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGAGGGACTTGAGTCGGGC	0.453																																							uc010qyw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(709-711)AAG>ATG		olfactory receptor, family 52, subfamily E,							82.0	76.0	78.0					11																	5080148		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080148T>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.710A>T	11.37:g.5080148T>A	ENSP00000322088:p.Lys237Met						p.K237M	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	710	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	237			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.710A>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256843	0.59321	.	.	ENSG00000176787	ENST00000321522	T	0.00377	7.69	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.109676	0.40302	N	0.001137	T	0.02047	0.0064	H	0.99143	4.445	0.37282	D	0.907871	D	0.89917	1.0	D	0.87578	0.998	T	0.02450	-1.1157	10	0.87932	D	0	.	12.3384	0.55081	0.0:0.0:0.0:1.0	.	237	Q8NGJ4	O52E2_HUMAN	M	237	ENSP00000322088:K237M	ENSP00000322088:K237M	K	-	2	0	OR52E2	5036724	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.570000	0.36439	1.963000	0.57068	0.524000	0.50904	AAG		0.453	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		16	47	0	0	0	0.004007	0	16	47				
APBB1	322	broad.mit.edu	37	11	6423818	6423818	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:6423818C>A	ENST00000609360.1	-	7	1341	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	APBB1_ENST00000608704.1_Silent_p.G155G|APBB1_ENST00000299402.6_Silent_p.G414G|APBB1_ENST00000608394.1_Silent_p.G155G|APBB1_ENST00000311051.3_Silent_p.G414G|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608655.1_Silent_p.G194G|APBB1_ENST00000608645.1_Silent_p.G155G|APBB1_ENST00000389906.2_Silent_p.G414G|APBB1_ENST00000609331.1_Silent_p.G179G|APBB1_ENST00000530885.1_Silent_p.G194G	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.G414G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCCCAGCCCCCAGACATGG	0.582																																					GBM(147;1810 2556 5672 39622)	GBM(147;1810 2556 5672 39622)	uc001mdb.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1240-1242)GGG>GGT		amyloid beta A4 precursor protein-binding,							63.0	64.0	64.0					11																	6423818		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423818C>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1242G>T	11.37:g.6423818C>A						APBB1_uc001mcz.1_Silent_p.G35G|APBB1_uc001mdd.3_Silent_p.G194G|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.G414G|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Silent_p.G35G|APBB1_uc010rae.1_Silent_p.G179G|APBB1_uc010raf.1_Silent_p.G155G|APBB1_uc009yfa.2_Silent_p.G155G|APBB1_uc009yey.2_Silent_p.G155G|APBB1_uc010rag.1_Silent_p.G155G|APBB1_uc009yfb.2_Silent_p.G155G|APBB1_uc001mde.2_Silent_p.G155G|APBB1_uc010rah.1_Silent_p.G155G	p.G414G	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1342	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	414			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.1242G>T																																																																																					0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		22	86	1	0	1.50039e-11	0.001882	2.32663e-11	22	86				
HPX	3263	broad.mit.edu	37	11	6458780	6458780	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:6458780T>C	ENST00000265983.3	-	6	693	c.593A>G	c.(592-594)tAc>tGc	p.Y198C	HPX_ENST00000525057.1_5'Flank	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	198					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.Y198C(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GAAGCAGTAGTAGCGGCCCAG	0.617																																							uc001mdg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)TAC>TGC		hemopexin precursor							81.0	73.0	76.0					11																	6458780		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6458780T>C	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.593A>G	11.37:g.6458780T>C	ENSP00000265983:p.Tyr198Cys					HPX_uc001mdf.2_5'UTR|HPX_uc009yfc.2_RNA	p.Y198C	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	6	654	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	198			Hemopexin-like 3.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.593A>G	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194061	0.78902	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.29142	1.58	4.86	4.86	0.63082	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62586	-0.6823	10	0.59425	D	0.04	-31.3966	12.3916	0.55362	0.0:0.0:0.0:1.0	.	198	P02790	HEMO_HUMAN	C	198	ENSP00000265983:Y198C	ENSP00000265983:Y198C	Y	-	2	0	HPX	6415356	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.299000	0.72770	1.826000	0.53198	0.379000	0.24179	TAC		0.617	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		10	46	0	0	0	0.006214	0	10	46				
ZNF214	7761	broad.mit.edu	37	11	7022175	7022175	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:7022175A>G	ENST00000278314.4	-	3	1054	c.739T>C	c.(739-741)Tgt>Cgt	p.C247R	ZNF214_ENST00000536068.1_Missense_Mutation_p.C247R|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C247R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAGCATTGACAGAGGTTTTCT	0.383																																					Ovarian(22;251 657 736 21522 46864)	Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)TGT>CGT		zinc finger protein 214							96.0	91.0	93.0					11																	7022175		2201	4296	6497	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022175A>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.739T>C	11.37:g.7022175A>G	ENSP00000278314:p.Cys247Arg					ZNF214_uc010ray.1_Missense_Mutation_p.C247R|ZNF214_uc009yfh.1_Missense_Mutation_p.C247R	p.C247R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1042	-			247					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.739T>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.077877	0.01903	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.14893	2.47;2.47	3.75	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.567769	0.14850	N	0.294735	T	0.19485	0.0468	M	0.69523	2.12	0.19300	N	0.999977	B	0.19583	0.037	B	0.15052	0.012	T	0.18903	-1.0322	10	0.87932	D	0	.	7.8647	0.29530	0.8146:0.0:0.0:0.1854	.	247	Q9UL59	ZN214_HUMAN	R	247	ENSP00000278314:C247R;ENSP00000445373:C247R	ENSP00000278314:C247R	C	-	1	0	ZNF214	6978751	0.002000	0.14202	0.289000	0.24876	0.043000	0.13939	1.984000	0.40658	0.756000	0.33013	0.528000	0.53228	TGT		0.383	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			11	113	0	0	0	0.001368	0	11	113				
PLEKHA7	144100	broad.mit.edu	37	11	16838765	16838765	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:16838765C>A	ENST00000355661.3	-	11	1458	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G483V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G483V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	483					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.G483V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGCGAGGAGCCCCCCGAGGG	0.637																																							uc001mmo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1447-1449)GGC>GTC		pleckstrin homology domain containing, family A							57.0	65.0	62.0					11																	16838765		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838765C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1448G>T	11.37:g.16838765C>A	ENSP00000347883:p.Gly483Val					PLEKHA7_uc010rcu.1_Missense_Mutation_p.G483V|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G57V|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G191V	p.G483V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			11	1463	-			483					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1448G>T	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.454006|1.454006	0.26161|0.26161	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.05855	.|3.41;3.38;3.38	4.97|4.97	4.04|4.04	0.47022|0.47022	.|.	.|0.443837	.|0.27668	.|N	.|0.018348	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.48185|0.48185	D|D	0.999606|0.999606	.|B;B;B;B	.|0.23650	.|0.02;0.001;0.047;0.089	.|B;B;B;B	.|0.26969	.|0.023;0.005;0.024;0.075	T|T	0.50972|0.50972	-0.8764|-0.8764	5|10	.|0.23891	.|T	.|0.37	-4.8611|-4.8611	8.6959|8.6959	0.34296|0.34296	0.1472:0.7749:0.0:0.0779|0.1472:0.7749:0.0:0.0779	.|.	.|57;483;483;483	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	S|V	114|483	.|ENSP00000435389:G483V;ENSP00000347883:G483V;ENSP00000416895:G483V	.|ENSP00000347883:G483V	A|G	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16795341|16795341	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.805000|0.805000	0.45488|0.45488	2.929000|2.929000	0.48916|0.48916	2.311000|2.311000	0.77944|0.77944	0.462000|0.462000	0.41574|0.41574	GCT|GGC		0.637	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		24	104	1	0	3.6726e-16	0.003954	6.07805e-16	24	104				
SAA2	6289	broad.mit.edu	37	11	18269519	18269519	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:18269519G>C	ENST00000526900.1	-	2	223	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	SAA2_ENST00000528349.1_Missense_Mutation_p.L14V|SAA2_ENST00000529528.1_Missense_Mutation_p.L14V|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000414546.2_Missense_Mutation_p.L14V|SAA2_ENST00000256733.4_Missense_Mutation_p.L14V|SAA2_ENST00000530400.1_Missense_Mutation_p.L14V|SAA2-SAA4_ENST00000524555.1_RNA			P0DJI9	SAA2_HUMAN	serum amyloid A2	14					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.L14V(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGACACTCAGGACCAAGGAG	0.522																																							uc001mnz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(40-42)CTG>GTG		serum amyloid A2 isoform a	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						148.0	131.0	137.0					11																	18269519		2198	4291	6489	SO:0001583	missense	6289				acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding	g.chr11:18269519G>C	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.40C>G	11.37:g.18269519G>C	ENSP00000436126:p.Leu14Val					SAA2_uc009yhj.2_Missense_Mutation_p.L14V	p.L14V	NM_030754	NP_110381	P02735	SAA_HUMAN			2	77	-			14					G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.40C>G	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	G	6.878	0.531413	0.13127	.	.	ENSG00000134339	ENST00000414546;ENST00000530400;ENST00000528349;ENST00000256733;ENST00000529528;ENST00000526900	T;T;T;T;T;T	0.31510	1.5;1.49;1.59;2.73;2.73;2.73	4.2	4.2	0.49525	.	0.198666	0.33005	N	0.005397	T	0.36717	0.0977	.	.	.	0.22896	N	0.998598	D;P	0.54047	0.964;0.939	P;P	0.52758	0.708;0.511	T	0.12116	-1.0560	9	0.33141	T	0.24	.	12.2688	0.54693	0.0:0.0:1.0:0.0	.	14;14	G3XAK9;E9PR14	.;.	V	14	ENSP00000416716:L14V;ENSP00000432370:L14V;ENSP00000435659:L14V;ENSP00000256733:L14V;ENSP00000437162:L14V;ENSP00000436126:L14V	ENSP00000256733:L14V	L	-	1	2	SAA2	18226095	0.978000	0.34361	0.729000	0.30791	0.037000	0.13140	3.850000	0.55918	2.367000	0.80283	0.555000	0.69702	CTG		0.522	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		15	80	0	0	0	0.003163	0	15	80				
DCDC1	341019	broad.mit.edu	37	11	31329387	31329387	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:31329387C>A	ENST00000452803.1	-	4	434	c.233G>T	c.(232-234)gGc>gTc	p.G78V	DCDC1_ENST00000597505.1_Missense_Mutation_p.G78V|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	78					intracellular signal transduction (GO:0035556)			p.G78V(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)					TCTGTTGGGGCCAAACTGAGA	0.413																																							uc001msv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(232-234)GGC>GTC		doublecortin domain containing 1							212.0	199.0	203.0					11																	31329387		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31329387C>A	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.233G>T	11.37:g.31329387C>A	ENSP00000389792:p.Gly78Val					DCDC1_uc001msu.1_5'UTR	p.G78V	NM_181807	NP_861523	P59894	DCDC1_HUMAN			4	435	-	Lung SC(675;0.225)		78					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.233G>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626489	0.66901	.	.	ENSG00000188682	ENST00000452803	T	0.56444	0.46	5.9	4.97	0.65823	.	0.000000	0.56097	D	0.000030	T	0.43612	0.1255	L	0.32530	0.975	0.54753	D	0.999986	P	0.49358	0.923	B	0.42771	0.397	T	0.36016	-0.9765	10	0.40728	T	0.16	-2.1901	12.6514	0.56764	0.124:0.7419:0.1341:0.0	.	78	P59894	DCDC1_HUMAN	V	78	ENSP00000389792:G78V	ENSP00000343496:G78V	G	-	2	0	DCDC1	31285963	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.173000	0.42472	1.453000	0.47775	0.650000	0.86243	GGC		0.413	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		33	155	1	0	1.56442e-22	0.002445	2.66705e-22	33	155				
OR4C13	283092	broad.mit.edu	37	11	49974366	49974366	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:49974366C>A	ENST00000555099.1	+	1	424	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T131N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGCACTATACCACCGTCATG	0.458																																							uc010rhz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(391-393)ACC>AAC		olfactory receptor, family 4, subfamily C,							116.0	102.0	107.0					11																	49974366		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974366C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.392C>A	11.37:g.49974366C>A	ENSP00000452277:p.Thr131Asn						p.T131N	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	392	+			131			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.392C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	2.924	-0.222512	0.06061	.	.	ENSG00000258817	ENST00000555099	T	0.00711	5.8	2.95	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.537324	0.16023	N	0.233207	T	0.01156	0.0038	M	0.67625	2.065	0.09310	N	1	B	0.33212	0.402	B	0.35813	0.211	T	0.42050	-0.9474	9	.	.	.	.	6.7471	0.23468	0.0:0.7347:0.0:0.2653	.	131	Q8NGP0	OR4CD_HUMAN	N	131	ENSP00000452277:T131N	.	T	+	2	0	OR4C13	49930942	0.000000	0.05858	0.057000	0.19452	0.019000	0.09904	-0.758000	0.04766	0.561000	0.29186	0.195000	0.17529	ACC		0.458	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		13	83	1	0	0.00010058	0.001368	0.000122955	13	83				
OR4C46	119749	broad.mit.edu	37	11	51515475	51515475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:51515475C>A	ENST00000328188.1	+	1	194	c.194C>A	c.(193-195)tCc>tAc	p.S65Y		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTATCTCTCCTTTATTGAT	0.473																																							uc010ric.1		NA																	0				ovary(1)	1						c.(193-195)TCC>TAC		olfactory receptor, family 4, subfamily C,							235.0	222.0	227.0					11																	51515475		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515475C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.194C>A	11.37:g.51515475C>A	ENSP00000329056:p.Ser65Tyr						p.S65Y	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	194	+			65			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.194C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	8.946	0.966937	0.18659	.	.	ENSG00000185926	ENST00000328188	T	0.12361	2.69	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000585	T	0.55114	0.1900	H	0.99682	4.7	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60464	-0.7258	10	0.87932	D	0	.	11.1303	0.48343	0.0:1.0:0.0:0.0	.	65	A6NHA9	O4C46_HUMAN	Y	65	ENSP00000329056:S65Y	ENSP00000329056:S65Y	S	+	2	0	OR4C46	51372051	0.036000	0.19791	0.432000	0.26747	0.031000	0.12232	3.049000	0.49869	1.513000	0.48852	0.134000	0.15878	TCC		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		14	299	1	0	1.02788e-11	0.00499	1.60271e-11	14	299				
OR4C16	219428	broad.mit.edu	37	11	55340043	55340043	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:55340043G>T	ENST00000314634.3	+	1	440	c.440G>T	c.(439-441)tGg>tTg	p.W147L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W147L(1)		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)				GCTGTGGCCTGGGTGGGATCC	0.498																																							uc010rih.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)TGG>TTG		olfactory receptor, family 4, subfamily C,							157.0	145.0	149.0					11																	55340043		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340043G>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.440G>T	11.37:g.55340043G>T	ENSP00000324913:p.Trp147Leu						p.W147L	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	440	+		all_epithelial(135;0.0748)	147			Helical; Name=4; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.440G>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279556	0.59758	.	.	ENSG00000181935	ENST00000314634	T	0.58210	0.35	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.74412	0.3713	M	0.85299	2.745	0.35056	D	0.761077	D	0.60575	0.988	D	0.71414	0.973	D	0.84158	0.0427	10	0.87932	D	0	.	15.345	0.74330	0.0:0.0:1.0:0.0	.	147	Q8NGL9	OR4CG_HUMAN	L	147	ENSP00000324913:W147L	ENSP00000324913:W147L	W	+	2	0	OR4C16	55096619	0.929000	0.31497	1.000000	0.80357	0.495000	0.33615	1.622000	0.36997	2.493000	0.84123	0.549000	0.68633	TGG		0.498	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		51	178	1	0	2.43468e-25	0.00361	4.16323e-25	51	178				
OR5J2	282775	broad.mit.edu	37	11	55944982	55944982	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:55944982G>T	ENST00000312298.1	+	1	889	c.889G>T	c.(889-891)Gta>Tta	p.V297L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V297L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAACAAGGACGTAAAGGAGGC	0.383																																							uc010rjb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(889-891)GTA>TTA		olfactory receptor, family 5, subfamily J,							68.0	76.0	73.0					11																	55944982		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944982G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.889G>T	11.37:g.55944982G>T	ENSP00000310788:p.Val297Leu						p.V297L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	889	+	Esophageal squamous(21;0.00693)		297			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.889G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760387	0.31137	.	.	ENSG00000174957	ENST00000312298	T	0.37584	1.19	4.26	4.26	0.50523	.	0.000000	0.49916	D	0.000125	T	0.58652	0.2137	M	0.82132	2.575	0.30117	N	0.806038	D	0.89917	1.0	D	0.85130	0.997	T	0.61023	-0.7146	10	0.87932	D	0	.	9.7218	0.40308	0.1002:0.0:0.8998:0.0	.	297	Q8NH18	OR5J2_HUMAN	L	297	ENSP00000310788:V297L	ENSP00000310788:V297L	V	+	1	0	OR5J2	55701558	0.224000	0.23674	0.390000	0.26220	0.002000	0.02628	0.624000	0.24462	2.124000	0.65301	0.591000	0.81541	GTA		0.383	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		10	34	1	0	3.86212e-05	0.008291	4.81489e-05	10	34				
CTNND1	1500	broad.mit.edu	37	11	57564429	57564429	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:57564429G>T	ENST00000399050.4	+	6	1457	c.921G>T	c.(919-921)cgG>cgT	p.R307R	CTNND1_ENST00000529919.1_Silent_p.R307R|CTNND1_ENST00000529526.1_Silent_p.R253R|CTNND1_ENST00000526357.1_Silent_p.R253R|CTNND1_ENST00000358694.6_Silent_p.R307R|CTNND1_ENST00000532245.1_Silent_p.R206R|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000360682.6_Silent_p.R307R|CTNND1_ENST00000532649.1_Silent_p.R253R|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399039.4_Silent_p.R307R|CTNND1_ENST00000361391.6_Silent_p.R307R|CTNND1_ENST00000530748.1_Silent_p.R253R|CTNND1_ENST00000526938.1_Silent_p.R307R|CTNND1_ENST00000532463.1_Silent_p.R206R|CTNND1_ENST00000428599.2_Silent_p.R307R|CTNND1_ENST00000529986.1_Silent_p.R206R|CTNND1_ENST00000361796.4_Silent_p.R307R|CTNND1_ENST00000532844.1_Silent_p.R253R|CTNND1_ENST00000426142.2_Silent_p.R206R|CTNND1_ENST00000524630.1_Silent_p.R307R|CTNND1_ENST00000529873.1_Silent_p.R253R|CTNND1_ENST00000528232.1_Silent_p.R206R|CTNND1_ENST00000532787.1_Silent_p.R206R|CTNND1_ENST00000530094.1_Silent_p.R206R|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528621.1_Silent_p.R253R|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000415361.2_Silent_p.R206R|CTNND1_ENST00000361332.4_Silent_p.R307R|CTNND1_ENST00000534579.1_Silent_p.R253R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	307					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.R307R(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTGCCCGTCGGACTGGGACAC	0.532																																							uc001nmc.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(919-921)CGG>CGT		catenin, delta 1 isoform 1ABC							73.0	77.0	76.0					11																	57564429		2047	4196	6243	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564429G>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.921G>T	11.37:g.57564429G>T						CTNND1_uc001nlf.1_Silent_p.R307R|CTNND1_uc001nlh.1_Silent_p.R307R|CTNND1_uc001nlu.3_Silent_p.R206R|CTNND1_uc001nlt.3_Silent_p.R206R|CTNND1_uc001nls.3_Silent_p.R206R|CTNND1_uc001nlw.3_Silent_p.R206R|CTNND1_uc001nmf.3_Silent_p.R307R|CTNND1_uc001nmd.3_Silent_p.R253R|CTNND1_uc001nlk.3_Silent_p.R253R|CTNND1_uc001nme.3_Silent_p.R307R|CTNND1_uc001nll.3_Silent_p.R253R|CTNND1_uc001nmg.3_Silent_p.R253R|CTNND1_uc001nlj.3_Silent_p.R253R|CTNND1_uc001nlr.3_Silent_p.R253R|CTNND1_uc001nlp.3_Silent_p.R253R|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.R307R|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Silent_p.R206R|CTNND1_uc001nmh.3_Silent_p.R307R|CTNND1_uc001nlq.3_Silent_p.R206R|CTNND1_uc001nln.3_Silent_p.R307R|CTNND1_uc001nli.3_Silent_p.R307R|CTNND1_uc001nlo.3_Silent_p.R206R|CTNND1_uc001nlv.3_Silent_p.R206R	p.R307R	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			6	1492	+		all_epithelial(135;0.155)	307					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.921G>T	CCDS44604.1																																																																																				0.532	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		22	65	1	0	2.39556e-15	0.00278	3.93011e-15	22	65				
OR5AN1	390195	broad.mit.edu	37	11	59132182	59132182	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:59132182C>A	ENST00000313940.2	+	1	298	c.251C>A	c.(250-252)tCc>tAc	p.S84Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S84Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAGATGCTCTCCAACCTCTTA	0.428																																							uc010rks.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)TCC>TAC		olfactory receptor, family 5, subfamily AN,							185.0	176.0	179.0					11																	59132182		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132182C>A	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.251C>A	11.37:g.59132182C>A	ENSP00000320302:p.Ser84Tyr						p.S84Y	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	251	+			84			Extracellular (Potential).		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.251C>A	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.499761	0.01001	.	.	ENSG00000176495	ENST00000313940	T	0.00402	7.56	4.42	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.398297	0.21782	N	0.069196	T	0.00271	0.0008	L	0.37561	1.115	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44742	-0.9308	10	0.36615	T	0.2	-9.8454	3.5188	0.07735	0.1802:0.526:0.0:0.2937	.	84	Q8NGI8	O5AN1_HUMAN	Y	84	ENSP00000320302:S84Y	ENSP00000320302:S84Y	S	+	2	0	OR5AN1	58888758	0.000000	0.05858	0.206000	0.23566	0.861000	0.49209	-0.116000	0.10724	0.349000	0.23975	0.655000	0.94253	TCC		0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		39	145	1	0	1.49673e-21	0.00623	2.53638e-21	39	145				
SPDYC	387778	broad.mit.edu	37	11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A	rs370497227		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602																																							uc010rnz.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(295-297)GCC>ACC		speedy C							85.0	80.0	82.0					11																	64939753		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939753G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.295G>A	11.37:g.64939753G>A	ENSP00000366390:p.Ala99Thr						p.A99T	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			4	295	+			99			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.295G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033057	0.75504	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.75	2.89	0.33648	.	0.000000	0.44285	U	0.000463	T	0.48502	0.1503	M	0.74647	2.275	0.31283	N	0.690395	D	0.56521	0.976	P	0.45071	0.468	T	0.59600	-0.7424	9	0.62326	D	0.03	.	8.7449	0.34580	0.1807:0.0:0.8193:0.0	.	99	Q5MJ68	SPDYC_HUMAN	T	99	.	ENSP00000366390:A99T	A	+	1	0	SPDYC	64696329	1.000000	0.71417	0.004000	0.12327	0.821000	0.46438	7.724000	0.84798	0.626000	0.30322	0.655000	0.94253	GCC		0.602	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		4	76	0	0	0	0.000248	0	4	76				
CTSF	8722	broad.mit.edu	37	11	66335003	66335003	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:66335003A>G	ENST00000310325.5	-	3	552	c.443T>C	c.(442-444)aTt>aCt	p.I148T	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	148					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)	p.I148T(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGAAGAAATCATGGCTGA	0.557																																							uc001oip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)ATT>ACT		cathepsin F precursor							116.0	112.0	113.0					11																	66335003		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335003A>G	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.443T>C	11.37:g.66335003A>G	ENSP00000310832:p.Ile148Thr						p.I148T	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	533	-			148					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.443T>C	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	A	9.868	1.198227	0.22037	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.71817	-0.6;0.74	4.3	-0.756	0.11057	.	2.526750	0.01665	N	0.025317	T	0.52964	0.1767	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33085	-0.9882	10	0.22706	T	0.39	.	7.5296	0.27674	0.5806:0.0:0.4194:0.0	.	148	Q9UBX1	CATF_HUMAN	T	148;56	ENSP00000310832:I148T;ENSP00000435822:I56T	ENSP00000310832:I148T	I	-	2	0	CTSF	66091579	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	1.130000	0.31393	-0.237000	0.09739	-0.464000	0.05259	ATT		0.557	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		12	99	0	0	0	0.001368	0	12	99				
PRKRIR	5612	broad.mit.edu	37	11	76062549	76062549	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:76062549G>C	ENST00000260045.3	-	5	1750	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	549					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q549E(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGTTTCATTTGAATATCAAGT	0.403																																							uc001oxh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1645-1647)CAA>GAA		protein-kinase, interferon-inducible double							19.0	18.0	19.0					11																	76062549		1894	3809	5703	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062549G>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1645C>G	11.37:g.76062549G>C	ENSP00000260045:p.Gln549Glu					PRKRIR_uc010rrz.1_Missense_Mutation_p.Q374E	p.Q549E	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1645	-			549					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1645C>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451965	0.04540	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.13	3.11	0.35812	Ribonuclease H-like (1);	0.209202	0.52532	D	0.000080	T	0.38931	0.1059	L	0.29908	0.895	0.41865	D	0.990242	B	0.02656	0.0	B	0.06405	0.002	T	0.27331	-1.0077	9	0.02654	T	1	.	12.5451	0.56195	0.0:0.1263:0.7428:0.1309	.	549	O43422	P52K_HUMAN	E	374;549	.	ENSP00000260045:Q549E	Q	-	1	0	PRKRIR	75740197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.852000	0.69488	1.315000	0.45114	0.644000	0.83932	CAA		0.403	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		3	42	0	0	0	0.000248	0	3	42				
USP35	57558	broad.mit.edu	37	11	77921493	77921493	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:77921493C>T	ENST00000529308.1	+	10	2853	c.2592C>T	c.(2590-2592)taC>taT	p.Y864Y	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.Y450Y|USP35_ENST00000526425.1_Silent_p.Y595Y|USP35_ENST00000530267.1_Silent_p.Y432Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	864	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.Y620Y(1)|p.Y864Y(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCACTACTACTGCTATGCCC	0.632																																							uc009yva.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)	3						c.(2590-2592)TAC>TAT		ubiquitin specific protease 35							135.0	139.0	138.0					11																	77921493		2007	4168	6175	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921493C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2592C>T	11.37:g.77921493C>T						USP35_uc001oze.2_Silent_p.Y620Y|USP35_uc001ozc.2_Silent_p.Y432Y|USP35_uc010rsp.1_Silent_p.Y296Y|USP35_uc001ozd.2_Silent_p.Y475Y|USP35_uc001ozf.2_Silent_p.Y595Y	p.Y864Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2838	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		864						Silent	SNP	ENST00000529308.1	37	c.2592C>T	CCDS41693.1																																																																																				0.632	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		8	131	0	0	0	0.004482	0	8	131				
TENM4	26011	broad.mit.edu	37	11	78381548	78381548	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:78381548C>T	ENST00000278550.7	-	32	6304	c.5842G>A	c.(5842-5844)Gac>Aac	p.D1948N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1948					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D1948N(2)									TCATTCTTGTCGAACTCAAAG	0.537																																							uc001ozl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(5842-5844)GAC>AAC		odz, odd Oz/ten-m homolog 4							71.0	74.0	73.0					11																	78381548		2006	4165	6171	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78381548C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5842G>A	11.37:g.78381548C>T	ENSP00000278550:p.Asp1948Asn					ODZ4_uc001ozk.3_Missense_Mutation_p.D173N|ODZ4_uc009yvb.1_Missense_Mutation_p.D532N	p.D1948N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6305	-			1948			YD 7.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5842G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647893	0.87958	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.94793	-3.52;-0.24	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97022	0.9744	9	.	.	.	.	18.6946	0.91596	0.0:1.0:0.0:0.0	.	1948	Q6N022	TEN4_HUMAN	N	1948;412	ENSP00000278550:D1948N;ENSP00000431711:D412N	.	D	-	1	0	ODZ4	78059196	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.609000	0.82925	2.716000	0.92895	0.655000	0.94253	GAC		0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			13	61	0	0	0	0.001855	0	13	61				
DDI1	414301	broad.mit.edu	37	11	103908282	103908282	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:103908282C>G	ENST00000302259.3	+	1	975	c.732C>G	c.(730-732)ctC>ctG	p.L244L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	244							aspartic-type endopeptidase activity (GO:0004190)	p.L244L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACGATGCTCTACATTAACT	0.468																																							uc001phr.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(730-732)CTC>CTG		DDI1, DNA-damage inducible 1, homolog 1							119.0	131.0	127.0					11																	103908282		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908282C>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.732C>G	11.37:g.103908282C>G						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.L244L	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	975	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	244					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.732C>G	CCDS31660.1																																																																																				0.468	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		27	131	0	0	0	0.008361	0	27	131				
APOC3	345	broad.mit.edu	37	11	116701581	116701581	+	Missense_Mutation	SNP	G	G	C	rs201803883	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:116701581G>C	ENST00000227667.3	+	3	210	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	APOC3_ENST00000375345.1_Missense_Mutation_p.V68L|APOC3_ENST00000470144.1_3'UTR	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	50					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	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)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)	p.V50M(1)|p.V50L(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTGAGCAGCGTGCAGGAGTC	0.657																																					GBM(81;259 1650 7161 35190)	GBM(81;259 1650 7161 35190)	uc001ppt.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(148-150)GTG>CTG		apolipoprotein C-III precursor							46.0	42.0	43.0					11																	116701581		2201	4296	6497	SO:0001583	missense	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701581G>C	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.148G>C	11.37:g.116701581G>C	ENSP00000227667:p.Val50Leu						p.V50L	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	194	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	50					Q08E83|Q6Q786	Missense_Mutation	SNP	ENST00000227667.3	37	c.148G>C	CCDS8377.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838499	0.32513	.	.	ENSG00000110245	ENST00000433777;ENST00000227667;ENST00000375345	D;D;D	0.91577	-2.87;-2.87;-2.87	4.94	-2.0	0.07433	.	0.000000	0.35378	N	0.003258	D	0.88570	0.6472	.	.	.	0.09310	N	0.999998	P	0.41420	0.749	P	0.46885	0.53	T	0.82782	-0.0287	9	0.56958	D	0.05	-3.9236	9.2928	0.37797	0.5173:0.0:0.4827:0.0	.	50	P02656	APOC3_HUMAN	L	50;50;68	ENSP00000410614:V50L;ENSP00000227667:V50L;ENSP00000364494:V68L	ENSP00000227667:V50L	V	+	1	0	APOC3	116206791	0.011000	0.17503	0.007000	0.13788	0.003000	0.03518	0.098000	0.15189	-0.833000	0.04245	0.655000	0.94253	GTG		0.657	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		4	40	0	0	0	0.000248	0	4	40				
CEP164	22897	broad.mit.edu	37	11	117279605	117279605	+	Splice_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:117279605G>T	ENST00000278935.3	+	29	3756		c.e29-1		CEP164_ENST00000533706.1_Splice_Site	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa						cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.?(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TTACCCCACAGGCCTCAGATG	0.527																																							uc001prc.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e29-1		centrosomal protein 164kDa							86.0	75.0	79.0					11																	117279605		2201	4296	6497	SO:0001630	splice_region_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117279605G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3610-1G>T	11.37:g.117279605G>T						CEP164_uc001prb.2_Splice_Site_p.A1207_splice|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_Splice_Site|CEP164_uc001prg.1_Splice_Site_p.A637_splice	p.A1204_splice	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	29	3757	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Splice_Site	SNP	ENST00000278935.3	37	c.3610_splice	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455543	0.26161	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	.	.	.	4.92	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4642	0.44598	0.0916:0.0:0.9084:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP164	116784815	1.000000	0.71417	0.417000	0.26559	0.012000	0.07955	2.929000	0.48916	1.296000	0.44742	0.591000	0.81541	.		0.527	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	Intron	6	34	1	0	2.7689e-08	0.001984	3.92781e-08	6	34				
OR10S1	219873	broad.mit.edu	37	11	123847504	123847504	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:123847504G>C	ENST00000531945.1	-	1	984	c.895C>G	c.(895-897)Cca>Gca	p.P299A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P299A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAAATGAATGGGTTGAGCATT	0.547																																							uc001pzm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(895-897)CCA>GCA		olfactory receptor, family 10, subfamily S,							95.0	96.0	96.0					11																	123847504		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847504G>C	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.895C>G	11.37:g.123847504G>C	ENSP00000431914:p.Pro299Ala						p.P299A	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	895	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	299			Helical; Name=7; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.895C>G	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554825	0.65425	.	.	ENSG00000196248	ENST00000531945	T	0.63255	-0.03	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003535	D	0.82398	0.5028	M	0.88842	2.985	0.44515	D	0.997461	D	0.89917	1.0	D	0.91635	0.999	D	0.86523	0.1817	10	0.87932	D	0	-11.8552	17.1375	0.86743	0.0:0.0:1.0:0.0	.	299	Q8NGN2	O10S1_HUMAN	A	299	ENSP00000431914:P299A	ENSP00000431914:P299A	P	-	1	0	OR10S1	123352714	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.707000	0.61852	2.360000	0.80028	0.563000	0.77884	CCA		0.547	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		13	83	0	0	0	0.001368	0	13	83				
NCAPD3	23310	broad.mit.edu	37	11	134063940	134063941	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:134063940_134063941CC>GA	ENST00000534548.2	-	15	1858_1859	c.1794_1795GG>TC	c.(1792-1797)caGGcc>caTCcc	p.598_599QA>HP		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	598					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q598_A599>HP(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACTGGAGGGCCTGCTTCCGGA	0.441																																							uc001qhd.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(1792-1797)CAGGCC>CATCCC		non-SMC condensin II complex, subunit D3																																				SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134063940_134063941CC>GA	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1794_1795delinsGA	11.37:g.134063940_134063941delinsGA	ENSP00000433681:p.Q598_A599delinsHP					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.598_599QA>HP	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	15	2400_2401	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	598_599			HEAT 3.		A6NFS2|Q4KMQ9	Missense_Mutation	DNP	ENST00000534548.2	37	c.1794_1795GG>TC	CCDS31723.1																																																																																				0.441	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		11	46	0	0	0	0.004672	0	11	46				
Unknown	0	broad.mit.edu	37	12	92000	92000	+	IGR	SNP	A	A	T	rs372724029		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:92000A>T								AC215219.1 (18678 upstream) : AC026369.1 (55051 downstream)																							GGTCCTGGCAACACTCTGGAC	0.572																																							uc010sdi.1		NA																	0					NA						c.(310-312)TTG>ATG		SubName: Full=DEAD/H box polypeptide 11 like 11;																																				SO:0001628	intergenic_variant	0							g.chr12:92000A>T																													12.37:g.92000A>T						uc010sdj.1_RNA	p.L104M							2	338	-									Missense_Mutation	SNP		37	c.310T>A																																																																																				0	0.572									4	7	0	0	0	0.000248	0	4	7				
KCNA5	3741	broad.mit.edu	37	12	5153913	5153913	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:5153913A>G	ENST00000252321.3	+	1	829	c.600A>G	c.(598-600)atA>atG	p.I200M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	200					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.I200M(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGGACGAGATACGCTTCTACC	0.637																																							uc001qni.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(598-600)ATA>ATG		potassium voltage-gated channel, shaker-related							47.0	50.0	49.0					12																	5153913		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153913A>G	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.600A>G	12.37:g.5153913A>G	ENSP00000252321:p.Ile200Met						p.I200M	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	829	+			200					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.600A>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174143	0.38413	.	.	ENSG00000130037	ENST00000252321	T	0.78924	-1.22	4.77	1.78	0.24846	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	T	0.81422	0.4819	L	0.48362	1.52	0.45607	D	0.99854	P	0.35348	0.496	P	0.60286	0.872	T	0.77292	-0.2642	10	0.59425	D	0.04	.	5.7405	0.18092	0.1533:0.6677:0.0:0.179	.	200	P22460	KCNA5_HUMAN	M	200	ENSP00000252321:I200M	ENSP00000252321:I200M	I	+	3	3	KCNA5	5024174	0.003000	0.15002	1.000000	0.80357	0.991000	0.79684	-0.227000	0.09126	0.172000	0.19760	-0.249000	0.11873	ATA		0.637	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	46	0	0	0	0.000248	0	4	46				
VWF	7450	broad.mit.edu	37	12	6120900	6120901	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:6120900_6120901GG>TT	ENST00000261405.5	-	34	5978_5979	c.5724_5725CC>AA	c.(5722-5727)ggCCag>ggAAag	p.Q1909K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1909					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.Q1909K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGCAAGGTCTGGCCATCTGGCT	0.579																																							uc001qnn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5722-5727)GGCCAG>GGAAAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)																																			SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6120900_6120901GG>TT		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5724_5725delinsTT	12.37:g.6120900_6120901delinsTT	ENSP00000261405:p.Gln1909Lys					VWF_uc010set.1_Intron	p.Q1909K	NM_000552	NP_000543	P04275	VWF_HUMAN			34	5974_5975	-			1909					Q8TCE8|Q99806	Missense_Mutation	DNP	ENST00000261405.5	37	c.5724_5725CC>AA	CCDS8539.1																																																																																				0.579	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	52	0	0	0	0.004672	0	4	52				
CD163L1	283316	broad.mit.edu	37	12	7528081	7528081	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:7528081C>T	ENST00000313599.3	-	11	2854	c.2797G>A	c.(2797-2799)Gat>Aat	p.D933N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D943N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D933N|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	933	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D933N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACACGGGCATCTTCTGGGTCC	0.532																																							uc001qsy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2797-2799)GAT>AAT		scavenger receptor cysteine-rich type 1							75.0	66.0	69.0					12																	7528081		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528081C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2797G>A	12.37:g.7528081C>T	ENSP00000315945:p.Asp933Asn					CD163L1_uc010sge.1_Missense_Mutation_p.D943N	p.D933N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			11	2823	-			933			SRCR 9.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2797G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	5.101	0.204337	0.09704	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36878	1.23;1.23;1.23	2.44	0.554	0.17241	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.256570	0.25529	U	0.030059	T	0.30230	0.0758	L	0.28014	0.82	0.09310	N	1	P;P	0.50617	0.937;0.937	P;P	0.53224	0.721;0.605	T	0.11767	-1.0574	10	0.33141	T	0.24	.	6.1741	0.20434	0.0:0.7136:0.0:0.2864	.	943;933	E7EVK4;Q9NR16	.;C163B_HUMAN	N	933;943;933	ENSP00000315945:D933N;ENSP00000393474:D943N;ENSP00000379871:D933N	ENSP00000315945:D933N	D	-	1	0	CD163L1	7419348	0.667000	0.27484	0.010000	0.14722	0.065000	0.16274	1.453000	0.35167	0.134000	0.18681	0.455000	0.32223	GAT		0.532	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		8	39	0	0	0	0.004482	0	8	39				
CLEC4E	26253	broad.mit.edu	37	12	8688715	8688715	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:8688715C>T	ENST00000299663.3	-	5	624	c.459G>A	c.(457-459)gtG>gtA	p.V153V	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Silent_p.V108V	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.V153V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GTGTGCCGTCCACCCATTGCC	0.433																																							uc001quo.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(457-459)GTG>GTA		C-type lectin domain family 4, member E							99.0	95.0	96.0					12																	8688715		2203	4300	6503	SO:0001819	synonymous_variant	26253					integral to membrane	sugar binding	g.chr12:8688715C>T	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.459G>A	12.37:g.8688715C>T							p.V153V	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			5	624	-	Lung SC(5;0.184)		153			C-type lectin.|Extracellular (Potential).		B2R6Q6	Silent	SNP	ENST00000299663.3	37	c.459G>A	CCDS8594.1																																																																																				0.433	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		8	67	0	0	0	0.004482	0	8	67				
PHC1	1911	broad.mit.edu	37	12	9089500	9089500	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:9089500A>T	ENST00000543824.1	+	13	2749	c.2417A>T	c.(2416-2418)tAc>tTc	p.Y806F	PHC1_ENST00000433083.2_Missense_Mutation_p.Y761F|PHC1_ENST00000536844.1_Missense_Mutation_p.Y412F|PHC1_ENST00000544916.1_Missense_Mutation_p.Y806F			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	806					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y806F(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGTGGGAAGTACGCCCCCGCA	0.527																																							uc001qvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2416-2418)TAC>TTC		polyhomeotic 1-like							104.0	88.0	93.0					12																	9089500		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089500A>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2417A>T	12.37:g.9089500A>T	ENSP00000440674:p.Tyr806Phe					PHC1_uc001qve.2_Missense_Mutation_p.Y806F	p.Y806F	NM_004426	NP_004417	P78364	PHC1_HUMAN			12	2573	+			806			FCS-type.		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2417A>T	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939392	0.52972	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.40476	2.01;2.01;2.0;2.01;1.03	5.03	5.03	0.67393	Zinc finger, FCS-type (1);Zinc finger, MYM-type (1);	0.185593	0.37906	N	0.001883	T	0.19446	0.0467	N	0.00926	-1.1	0.46774	D	0.999197	B	0.25563	0.129	B	0.32465	0.146	T	0.19192	-1.0313	10	0.25751	T	0.34	-10.7935	14.605	0.68472	1.0:0.0:0.0:0.0	.	806	P78364	PHC1_HUMAN	F	806;806;761;806;412	ENSP00000440674:Y806F;ENSP00000251757:Y806F;ENSP00000399194:Y761F;ENSP00000437659:Y806F;ENSP00000440488:Y412F	ENSP00000251757:Y806F	Y	+	2	0	PHC1	8980767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.441000	0.73439	2.114000	0.64651	0.459000	0.35465	TAC		0.527	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	33	0	0	0	0.000248	0	4	33				
GRIN2B	2904	broad.mit.edu	37	12	13720066	13720066	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:13720066G>T	ENST00000609686.1	-	12	2700	c.2491C>A	c.(2491-2493)Ctc>Atc	p.L831I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	831					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)	p.L831I(1)		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)	ATGAGGCTGAGAGCCATGGCC	0.512																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2491-2493)CTC>ATC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						139.0	121.0	127.0					12																	13720066		2203	4300	6503	SO:0001583	missense	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.chr12:13720066G>T		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.2491C>A	12.37:g.13720066G>T	ENSP00000477455:p.Leu831Ile						p.L831I	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2670	-			831			Helical; (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2491C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136977	0.94517	.	.	ENSG00000150086	ENST00000279593	T	0.48522	0.81	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.75775	-0.3199	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:0.0:1.0:0.0	.	831	Q13224	NMDE2_HUMAN	I	831	ENSP00000279593:L831I	ENSP00000279593:L831I	L	-	1	0	GRIN2B	13611333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.863000	0.99569	2.554000	0.86153	0.650000	0.86243	CTC		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			21	66	1	0	1.55795e-14	0.001882	2.5412e-14	21	66				
SLCO1B7	338821	broad.mit.edu	37	12	21196363	21196363	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:21196363C>A	ENST00000421593.2	+	6	682	c.682C>A	c.(682-684)Cca>Aca	p.P228T	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.P275T|LST3_ENST00000381541.3_Missense_Mutation_p.P275T|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P228T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCTTCTATACCATTCTTTTT	0.363																																							uc010sin.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CCA>ACA		liver-specific organic anion transporter 3TM12							133.0	133.0	133.0					12																	21196363		2203	4299	6502	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21196363C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.682C>A	12.37:g.21196363C>A	ENSP00000394168:p.Pro228Thr					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.P275T	p.P228T	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	682	+			228					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.682C>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.301217	0.23650	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.48522	0.81;0.81;0.81	3.17	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.93507	3.425	0.39075	D	0.960784	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76326	-0.3000	10	0.87932	D	0	.	8.9074	0.35532	0.2238:0.7762:0.0:0.0	.	228;275	G3V0H7;F5H094	.;.	T	275;275;228	ENSP00000370952:P275T;ENSP00000452013:P275T;ENSP00000394168:P228T	ENSP00000370952:P275T	P	+	1	0	SLCO1B7;RP11-545J16.1	21087630	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.691000	0.68249	0.627000	0.30340	0.305000	0.20034	CCA		0.363	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		6	114	1	0	5.18039e-06	0.00308	6.7716e-06	6	114				
CAPRIN2	65981	broad.mit.edu	37	12	30881654	30881655	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:30881654_30881655CC>AA	ENST00000395805.2	-	8	2256_2257	c.1709_1710GG>TT	c.(1708-1710)tGG>tTT	p.W570F	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W570F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W570F|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W570F|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W237F	NM_001206856.1	NP_001193785.1			caprin family member 2									p.W570F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAGCTACTCCCCAGGACTTTGG	0.441																																							uc001rji.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1708-1710)TGG>TTT		C1q domain containing 1 isoform 1																																				SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881654_30881655CC>AA	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1709_1710delinsAA	12.37:g.30881654_30881655delinsAA	ENSP00000379150:p.Trp570Phe					CAPRIN2_uc001rjf.1_Missense_Mutation_p.W367F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.W570F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjk.3_Missense_Mutation_p.W570F|CAPRIN2_uc001rjl.3_Missense_Mutation_p.W570F|CAPRIN2_uc001rjm.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjn.1_Missense_Mutation_p.W237F	p.W570F	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			8	2460_2461	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		570						Missense_Mutation	DNP	ENST00000395805.2	37	c.1709_1710GG>TT	CCDS55816.1																																																																																				0.441	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		13	85	0	0	0	0.004672	0	13	85				
C12orf40	283461	broad.mit.edu	37	12	40114727	40114727	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:40114727G>A	ENST00000324616.5	+	13	1787	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	545								p.D545N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAAAAACGATGACAAAATTCA	0.338																																							uc001rmc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1633-1635)GAC>AAC		hypothetical protein LOC283461							80.0	79.0	79.0					12																	40114727		1826	4074	5900	SO:0001583	missense	283461							g.chr12:40114727G>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1633G>A	12.37:g.40114727G>A	ENSP00000317671:p.Asp545Asn					C12orf40_uc009zjv.1_Intron	p.D545N	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			13	1800	+			545					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1633G>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	7.600	0.672568	0.14776	.	.	ENSG00000180116	ENST00000324616	T	0.43294	0.95	4.95	3.05	0.35203	.	0.639758	0.14496	N	0.316068	T	0.20861	0.0502	N	0.14661	0.345	0.09310	N	1	B	0.29508	0.246	B	0.26416	0.069	T	0.20706	-1.0267	10	0.11182	T	0.66	.	7.1161	0.25416	0.0966:0.2222:0.6811:0.0	.	545	Q86WS4	CL040_HUMAN	N	545	ENSP00000317671:D545N	ENSP00000317671:D545N	D	+	1	0	C12orf40	38400994	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	0.242000	0.18087	0.678000	0.31325	0.585000	0.79938	GAC		0.338	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	92	0	0	0	0.00308	0	8	92				
LRRK2	120892	broad.mit.edu	37	12	40707882	40707882	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:40707882G>A	ENST00000298910.7	+	32	4703	c.4645G>A	c.(4645-4647)Gac>Aac	p.D1549N	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1549					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)				TCCCGTAATTGACCGGAAACG	0.383																																							uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4645-4647)GAC>AAC		leucine-rich repeat kinase 2							82.0	77.0	79.0					12																	40707882		2203	4299	6502	SO:0001583	missense	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.chr12:40707882G>A	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.4645G>A	12.37:g.40707882G>A	ENSP00000298910:p.Asp1549Asn					LRRK2_uc009zjw.2_Missense_Mutation_p.D387N|LRRK2_uc001rmi.2_Missense_Mutation_p.D382N	p.D1549N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			32	4766	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1549					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4645G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183094	0.21870	.	.	ENSG00000188906	ENST00000298910	T	0.71341	-0.56	5.83	2.56	0.30785	.	0.582950	0.19240	N	0.119192	T	0.45377	0.1339	N	0.08118	0	0.28079	N	0.932273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25467	-1.0131	10	0.12430	T	0.62	.	10.1337	0.42693	0.3053:0.0:0.6947:0.0	.	1549;1549	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1549	ENSP00000298910:D1549N	ENSP00000298910:D1549N	D	+	1	0	LRRK2	38994149	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.303000	0.43646	0.793000	0.33875	0.585000	0.79938	GAC		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	60	0	0	0	0.001168	0	6	60				
OR8S1	341568	broad.mit.edu	37	12	48919525	48919525	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:48919525G>T	ENST00000310194.1	+	1	111	c.111G>T	c.(109-111)ctG>ctT	p.L37L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTTACCTCCTGACCATAATGG	0.512																																							uc010slu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(109-111)CTG>CTT		olfactory receptor, family 8, subfamily S,							170.0	165.0	167.0					12																	48919525		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919525G>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.111G>T	12.37:g.48919525G>T							p.L37L	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	111	+			37			Helical; Name=1; (Potential).			Silent	SNP	ENST00000310194.1	37	c.111G>T	CCDS31789.1																																																																																				0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			20	196	1	0	0.000175454	0.001523	0.000212195	20	196				
LIMA1	51474	broad.mit.edu	37	12	50589612	50589612	+	Splice_Site	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:50589612C>T	ENST00000341247.4	-	8	1180		c.e8+1		LIMA1_ENST00000552491.1_Splice_Site|LIMA1_ENST00000552783.1_Splice_Site|LIMA1_ENST00000394943.3_Splice_Site|LIMA1_ENST00000552823.1_Splice_Site|LIMA1_ENST00000547825.1_Splice_Site|LIMA1_ENST00000552008.1_Splice_Site|LIMA1_ENST00000552909.1_Splice_Site	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGAATGCTTACGGGAGTCATC	0.398																																							uc001rwj.3		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e8+1		LIM domain and actin binding 1 isoform b							79.0	78.0	78.0					12																	50589612		2203	4300	6503	SO:0001630	splice_region_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50589612C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1030+1G>A	12.37:g.50589612C>T						LIMA1_uc001rwg.3_Splice_Site_p.R42_splice|LIMA1_uc001rwh.3_Splice_Site_p.R184_splice|LIMA1_uc001rwi.3_Splice_Site_p.P184_splice|LIMA1_uc001rwk.3_Splice_Site_p.P344_splice|LIMA1_uc010smr.1_Splice_Site|LIMA1_uc010sms.1_Splice_Site	p.R344_splice	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			8	1204	-								B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Splice_Site	SNP	ENST00000341247.4	37	c.1030_splice	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639269	0.67244	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7554	0.78018	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIMA1	48875879	0.984000	0.35163	0.998000	0.56505	0.908000	0.53690	3.895000	0.56258	2.730000	0.93505	0.563000	0.77884	.		0.398	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	Intron	7	101	0	0	0	0.00308	0	7	101				
OR9K2	441639	broad.mit.edu	37	12	55523851	55523851	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:55523851C>G	ENST00000305377.5	+	1	387	c.299C>G	c.(298-300)tCt>tGt	p.S100C		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S100C(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTCTATTCATCTGTTATTGAA	0.418																																							uc010spe.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(298-300)TCT>TGT		olfactory receptor, family 9, subfamily K,							159.0	159.0	159.0					12																	55523851		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523851C>G	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.299C>G	12.37:g.55523851C>G	ENSP00000307598:p.Ser100Cys						p.S100C	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	299	+			100			Helical; Name=2; (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.299C>G	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666382	0.67814	.	.	ENSG00000170605	ENST00000305377	T	0.00350	7.98	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000131	T	0.00754	0.0025	M	0.66297	2.02	0.40703	D	0.982508	D	0.76494	0.999	D	0.67231	0.95	T	0.79176	-0.1911	10	0.87932	D	0	-34.569	18.4253	0.90607	0.0:1.0:0.0:0.0	.	100	Q8NGE7	OR9K2_HUMAN	C	100	ENSP00000307598:S100C	ENSP00000307598:S100C	S	+	2	0	OR9K2	53810118	0.047000	0.20315	0.851000	0.33527	0.888000	0.51559	2.842000	0.48230	2.753000	0.94483	0.650000	0.86243	TCT		0.418	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			15	205	0	0	0	0.00245	0	15	205				
KIF5A	3798	broad.mit.edu	37	12	57974797	57974797	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:57974797G>T	ENST00000455537.2	+	24	2871	c.2597G>T	c.(2596-2598)aGg>aTg	p.R866M	KIF5A_ENST00000286452.5_Missense_Mutation_p.R777M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	866					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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R866M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAACGACTTAGGGCTACGGCT	0.562																																							uc001sor.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2596-2598)AGG>ATG		kinesin family member 5A							68.0	61.0	63.0					12																	57974797		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57974797G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2597G>T	12.37:g.57974797G>T	ENSP00000408979:p.Arg866Met					KIF5A_uc010srr.1_Missense_Mutation_p.R777M	p.R866M	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			24	2805	+			866					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2597G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874499	0.91664	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86769	-2.17;-2.17	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93851	0.7145	10	0.46703	T	0.11	.	17.5402	0.87845	0.0:0.0:1.0:0.0	.	777;866	B7Z2M7;Q12840	.;KIF5A_HUMAN	M	866;777	ENSP00000408979:R866M;ENSP00000286452:R777M	ENSP00000286452:R777M	R	+	2	0	KIF5A	56261064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.446000	0.97590	2.757000	0.94681	0.655000	0.94253	AGG		0.562	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		9	47	1	0	0.000442599	0.006214	0.000528505	9	47				
KCNC2	3747	broad.mit.edu	37	12	75444222	75444222	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:75444222C>G	ENST00000549446.1	-	3	2243	c.1563G>C	c.(1561-1563)caG>caC	p.Q521H	KCNC2_ENST00000298972.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000393288.2_Missense_Mutation_p.Q521H|KCNC2_ENST00000341669.3_Missense_Mutation_p.Q521H|KCNC2_ENST00000350228.2_Missense_Mutation_p.Q521H|KCNC2_ENST00000540018.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000548513.1_Missense_Mutation_p.Q521H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	521					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)	p.Q521H(2)		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)	ATGTGTCACTCTGTGTACTAT	0.413																																							uc001sxg.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1561-1563)CAG>CAC		Shaw-related voltage-gated potassium channel							164.0	156.0	159.0					12																	75444222		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444222C>G	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.1563G>C	12.37:g.75444222C>G	ENSP00000449253:p.Gln521His					KCNC2_uc009zry.2_Missense_Mutation_p.Q521H|KCNC2_uc001sxe.2_Missense_Mutation_p.Q521H|KCNC2_uc001sxf.2_Missense_Mutation_p.Q521H|KCNC2_uc010stw.1_Missense_Mutation_p.Q521H	p.Q521H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	2107	-			521			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1563G>C	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	3.099	-0.185221	0.06340	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97455	-4.38;-4.39;-4.38;-4.38;-4.39;-4.36;-4.35;-4.39	5.88	2.65	0.31530	.	0.280120	0.31156	N	0.008153	D	0.93913	0.8052	L	0.48642	1.525	0.45676	D	0.998597	B;B;B;B;B	0.16166	0.016;0.01;0.004;0.007;0.006	B;B;B;B;B	0.20184	0.028;0.019;0.008;0.019;0.006	D	0.89387	0.3686	10	0.16896	T	0.51	.	12.4232	0.55532	0.0:0.7328:0.0:0.2672	.	521;521;521;521;521	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	H	521	ENSP00000448301:Q521H;ENSP00000449941:Q521H;ENSP00000449253:Q521H;ENSP00000340121:Q521H;ENSP00000298972:Q521H;ENSP00000319877:Q521H;ENSP00000438423:Q521H;ENSP00000376966:Q521H	ENSP00000298972:Q521H	Q	-	3	2	KCNC2	73730489	0.963000	0.33076	0.893000	0.35052	0.341000	0.28922	0.552000	0.23376	0.826000	0.34661	0.650000	0.86243	CAG		0.413	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		12	133	0	0	0	0.00245	0	12	133				
KCNC2	3747	broad.mit.edu	37	12	75444888	75444888	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:75444888G>A	ENST00000549446.1	-	3	1577	c.897C>T	c.(895-897)gtC>gtT	p.V299V	KCNC2_ENST00000298972.1_Silent_p.V299V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Silent_p.V299V|KCNC2_ENST00000393288.2_Silent_p.V299V|KCNC2_ENST00000341669.3_Silent_p.V299V|KCNC2_ENST00000350228.2_Silent_p.V299V|KCNC2_ENST00000540018.1_Silent_p.V299V|KCNC2_ENST00000548513.1_Silent_p.V299V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	299					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)	p.V299V(2)		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)	AAACAATACGGACTAAAAATT	0.378																																							uc001sxg.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(895-897)GTC>GTT		Shaw-related voltage-gated potassium channel							126.0	116.0	119.0					12																	75444888		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444888G>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.897C>T	12.37:g.75444888G>A						KCNC2_uc009zry.2_Silent_p.V299V|KCNC2_uc001sxe.2_Silent_p.V299V|KCNC2_uc001sxf.2_Silent_p.V299V|KCNC2_uc010stw.1_Silent_p.V299V	p.V299V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1441	-			299			Helical; Name=Segment S2; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.897C>T	CCDS9007.1																																																																																				0.378	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		10	65	0	0	0	0.000978	0	10	65				
SLC6A15	55117	broad.mit.edu	37	12	85285712	85285712	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:85285712G>C	ENST00000266682.5	-	2	729	c.188C>G	c.(187-189)gCt>gGt	p.A63G	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.A63G	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	63					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)	p.A63G(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGTTCCAAGCTGGTCTTTC	0.418																																							uc001szv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(187-189)GCT>GGT		solute carrier family 6, member 15 isoform 1							164.0	146.0	152.0					12																	85285712		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.chr12:85285712G>C	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.188C>G	12.37:g.85285712G>C	ENSP00000266682:p.Ala63Gly					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.A63G	p.A63G	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	681	-			63			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.188C>G	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155803	0.57259	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.75260	-0.92;-0.92;-0.92	5.53	4.64	0.57946	.	0.048717	0.85682	D	0.000000	T	0.68007	0.2954	L	0.42686	1.345	0.80722	D	1	B;B	0.27316	0.004;0.175	B;B	0.30495	0.044;0.116	T	0.63857	-0.6542	10	0.27785	T	0.31	.	14.4173	0.67158	0.071:0.0:0.929:0.0	.	63;63	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	G	63	ENSP00000266682:A63G;ENSP00000390706:A63G;ENSP00000448308:A63G	ENSP00000266682:A63G	A	-	2	0	SLC6A15	83809843	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.713000	0.74686	1.455000	0.47813	0.655000	0.94253	GCT		0.418	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		13	131	0	0	0	0.001368	0	13	131				
BTBD11	121551	broad.mit.edu	37	12	107937905	107937905	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:107937905C>A	ENST00000280758.5	+	3	2007	c.1479C>A	c.(1477-1479)ctC>ctA	p.L493L	BTBD11_ENST00000490090.2_Silent_p.L493L|BTBD11_ENST00000420571.2_Silent_p.L493L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	493						integral component of membrane (GO:0016021)		p.L493L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGTCAACCTCCAGGTGGAAA	0.567																																							uc001tmk.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1477-1479)CTC>CTA		BTB (POZ) domain containing 11 isoform a							46.0	42.0	43.0					12																	107937905		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107937905C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1479C>A	12.37:g.107937905C>A						BTBD11_uc009zut.1_Silent_p.L493L|BTBD11_uc001tmj.2_Silent_p.L493L	p.L493L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			3	2000	+			493					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1479C>A	CCDS31893.1																																																																																				0.567	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		5	33	1	0	3.59834e-05	0.001168	4.51587e-05	5	33				
BTBD11	121551	broad.mit.edu	37	12	108042999	108042999	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:108042999T>A	ENST00000280758.5	+	15	3467	c.2939T>A	c.(2938-2940)cTc>cAc	p.L980H	Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.L980H|BTBD11_ENST00000494235.2_Missense_Mutation_p.L59H|BTBD11_ENST00000357167.4_Missense_Mutation_p.L517H|BTBD11_ENST00000420571.2_Missense_Mutation_p.L861H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	980	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					integral component of membrane (GO:0016021)		p.L980H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGCAGTATCTCTACTATGGT	0.473																																							uc001tmk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2938-2940)CTC>CAC		BTB (POZ) domain containing 11 isoform a							309.0	240.0	264.0					12																	108042999		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108042999T>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2939T>A	12.37:g.108042999T>A	ENSP00000280758:p.Leu980His					BTBD11_uc001tmj.2_Missense_Mutation_p.L980H|BTBD11_uc001tml.1_Missense_Mutation_p.L517H|BTBD11_uc001tmm.1_Missense_Mutation_p.L59H	p.L980H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			15	3460	+			980			BTB.		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2939T>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332746	0.60853	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167;ENST00000494235	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.38	5.38	0.77491	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.058402	0.64402	D	0.000002	D	0.88012	0.6323	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	0.97;1.0;1.0	P;D;D	0.97110	0.665;0.989;1.0	D	0.91219	0.5005	10	0.87932	D	0	.	15.3882	0.74718	0.0:0.0:0.0:1.0	.	517;980;980	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	980;861;980;517;59	ENSP00000280758:L980H;ENSP00000413889:L861H;ENSP00000447319:L980H;ENSP00000349690:L517H;ENSP00000448322:L59H	ENSP00000280758:L980H	L	+	2	0	BTBD11	106567129	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.698000	0.84413	2.022000	0.59522	0.459000	0.35465	CTC		0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		8	90	0	0	0	0.004482	0	8	90				
SVOP	55530	broad.mit.edu	37	12	109306415	109306415	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:109306415G>A	ENST00000299134.5	-	14	1346	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	RP11-423G4.7_ENST00000569754.1_lincRNA	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)	p.G449G(2)		breast(2)|lung(4)	6						TGCAGTCCTCGGCCTTTGGTC	0.607																																							uc010sxh.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1543-1545)CGA>TGA		SV2 related protein							77.0	89.0	85.0					12																	109306415		2150	4252	6402	SO:0001819	synonymous_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109306415G>A	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1347C>T	12.37:g.109306415G>A							p.R515*	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			15	1715	-			515			Cytoplasmic (Potential).		Q9NPW5	Nonsense_Mutation	SNP	ENST00000299134.5	37	c.1543C>T																																																																																					0.607	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		8	87	0	0	0	0.004482	0	8	87				
HCAR2	338442	broad.mit.edu	37	12	123186931	123186931	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:123186931G>T	ENST00000328880.5	-	1	959	c.900C>A	c.(898-900)tcC>tcA	p.S300S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	300					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.S300S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AGTTGGGAAAGGATGGGCTGG	0.542																																							uc001ucx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)TCC>TCA		G protein-coupled receptor 109A	Mepenzolate(DB04843)|Niacin(DB00627)						69.0	58.0	62.0					12																	123186931		2203	4297	6500	SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186931G>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.900C>A	12.37:g.123186931G>T						GPR81_uc001ucw.1_Intron	p.S300S	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	974	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		300			Cytoplasmic (Potential).		A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.900C>A	CCDS9235.1																																																																																				0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		11	75	1	0	0.000673444	0.008291	0.000794103	11	75				
AACS	65985	broad.mit.edu	37	12	125613889	125613889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:125613889G>T	ENST00000316519.6	+	14	1638	c.1432G>T	c.(1432-1434)Gtc>Ttc	p.V478F	AACS_ENST00000316543.10_Missense_Mutation_p.V76F|AACS_ENST00000261686.6_Missense_Mutation_p.V478F|AACS_ENST00000543665.1_5'UTR|AACS_ENST00000545511.1_Silent_p.R57R	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	478					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.V478F(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGGAAAGGCGGTCTGGGGAGA	0.507																																							uc001uhc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1432-1434)GTC>TTC		acetoacetyl-CoA synthetase							140.0	142.0	141.0					12																	125613889		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125613889G>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1432G>T	12.37:g.125613889G>T	ENSP00000324842:p.Val478Phe					AACS_uc001uhd.2_Missense_Mutation_p.V478F|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.V76F	p.V478F	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	14	1638	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		478					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.1432G>T	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505952	0.85282	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118	T;T;T;T;T	0.56776	2.5;2.5;2.5;0.44;2.5	4.66	4.66	0.58398	AMP-dependent synthetase/ligase (1);	0.056726	0.64402	D	0.000001	T	0.78886	0.4354	M	0.92555	3.32	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.71414	0.954;0.973	D	0.85130	0.0974	10	0.87932	D	0	.	17.7216	0.88353	0.0:0.0:1.0:0.0	.	478;478	Q86V21-2;Q86V21	.;AACS_HUMAN	F	478;478;76;143;33	ENSP00000324842:V478F;ENSP00000261686:V478F;ENSP00000324929:V76F;ENSP00000441686:V143F;ENSP00000441331:V33F	ENSP00000261686:V478F	V	+	1	0	AACS	124179842	1.000000	0.71417	0.435000	0.26784	0.787000	0.44495	6.724000	0.74747	2.393000	0.81446	0.462000	0.41574	GTC		0.507	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		25	143	1	0	5.35047e-06	0.00333	6.9778e-06	25	143				
TMEM132D	121256	broad.mit.edu	37	12	129559047	129559047	+	Missense_Mutation	SNP	C	C	A	rs561185434		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:129559047C>A	ENST00000422113.2	-	9	2999	c.2673G>T	c.(2671-2673)caG>caT	p.Q891H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q429H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	891					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q891H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGGTCCACCTGGGCTGGGA	0.527																																							uc009zyl.1		NA																	1	Substitution - Missense(1)	p.Q891*(1)	lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2671-2673)CAG>CAT		transmembrane protein 132D precursor							96.0	90.0	92.0					12																	129559047		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559047C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2673G>T	12.37:g.129559047C>A	ENSP00000408581:p.Gln891His					TMEM132D_uc001uia.2_Missense_Mutation_p.Q429H	p.Q891H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3001	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	891			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2673G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	8.840	0.941994	0.18281	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10860	2.83;3.62	4.07	-0.173	0.13322	.	0.097175	0.43919	D	0.000502	T	0.17959	0.0431	L	0.49571	1.57	0.46185	D	0.998914	D;P	0.57571	0.98;0.941	P;P	0.60415	0.874;0.849	T	0.00992	-1.1488	9	.	.	.	-8.2427	8.8863	0.35404	0.0:0.5854:0.0:0.4146	.	891;429	Q14C87;Q14C87-2	T132D_HUMAN;.	H	429;891	ENSP00000374092:Q429H;ENSP00000408581:Q891H	.	Q	-	3	2	TMEM132D	128125000	0.667000	0.27484	0.034000	0.17996	0.689000	0.40095	-0.035000	0.12205	-0.012000	0.14223	0.313000	0.20887	CAG		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	62	1	0	0.00621372	0.006214	0.00704802	9	62				
FZD10	11211	broad.mit.edu	37	12	130648268	130648268	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:130648268C>T	ENST00000229030.4	+	1	1265	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	FZD10_ENST00000539839.1_Missense_Mutation_p.A228V|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	261					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)	p.R261C(1)		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)		CTACCCCGAGCGCCCCATCAT	0.657																																							uc001uii.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(781-783)CGC>TGC		frizzled 10 precursor							112.0	106.0	108.0					12																	130648268		2203	4300	6503	SO:0001583	missense	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.chr12:130648268C>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.781C>T	12.37:g.130648268C>T	ENSP00000229030:p.Arg261Cys					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.R261C	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	1237	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		261			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.781C>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.32|11.32	1.603973|1.603973	0.28534|0.28534	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.47177	.|0.85	4.96|4.96	4.96|4.96	0.65561|0.65561	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.77184|0.77184	0.4093|0.4093	H|H	0.96208|0.96208	3.785|3.785	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.84003|0.84003	0.0344|0.0344	6|10	0.87932|0.87932	D|D	0|0	.|.	12.492|12.492	0.55905|0.55905	0.2829:0.7171:0.0:0.0|0.2829:0.7171:0.0:0.0	.|.	.|261	.|Q9ULW2	.|FZD10_HUMAN	V|C	228|261	.|ENSP00000229030:R261C	ENSP00000438460:A228V|ENSP00000229030:R261C	A|R	+|+	2|1	0|0	FZD10|FZD10	129214221|129214221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.605000|2.605000	0.46283|0.46283	2.285000|2.285000	0.76669|0.76669	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	109	0	0	0	0.001855	0	12	109				
TUBA3C	7278	broad.mit.edu	37	13	19748131	19748131	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:19748131C>A	ENST00000400113.3	-	5	1329	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	409					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|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)	p.V409L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTTCTCCCACGTACCAGTGC	0.607																																							uc009zzj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1225-1227)GTG>TTG		tubulin, alpha 3c							151.0	143.0	146.0					13																	19748131		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748131C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1225G>T	13.37:g.19748131C>A	ENSP00000382982:p.Val409Leu						p.V409L	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1274	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	409					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1225G>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.32	1.316927	0.23908	.	.	ENSG00000198033	ENST00000400113	D	0.84146	-1.81	1.22	1.22	0.21188	.	0.000000	0.42294	U	0.000731	D	0.86556	0.5961	.	.	.	0.41648	D	0.989114	.	.	.	.	.	.	D	0.86070	0.1537	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	L	409	ENSP00000382982:V409L	ENSP00000382982:V409L	V	-	1	0	TUBA3C	18646131	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	6.342000	0.72982	0.982000	0.38575	0.194000	0.17425	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		17	134	1	0	0.00400662	0.004007	0.00459059	17	134				
CSNK1A1L	122011	broad.mit.edu	37	13	37679325	37679325	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:37679325G>C	ENST00000379800.3	-	1	478	c.69C>G	c.(67-69)atC>atG	p.I23M		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I23M(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGCCAGACCCGATCTTCCGCA	0.557																																							uc001uwm.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(67-69)ATC>ATG		casein kinase 1, alpha 1-like							128.0	119.0	122.0					13																	37679325		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679325G>C	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.69C>G	13.37:g.37679325G>C	ENSP00000369126:p.Ile23Met						p.I23M	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	477	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	23			ATP (By similarity).|Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.69C>G	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191995	0.38707	.	.	ENSG00000180138	ENST00000379800	T	0.70986	-0.53	0.858	-0.071	0.13745	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	H	0.99675	4.695	0.42346	D	0.992353	D	0.58970	0.984	D	0.65233	0.933	T	0.82920	-0.0218	10	0.87932	D	0	.	4.8611	0.13585	0.2584:0.0:0.7416:0.0	.	23	Q8N752	KC1AL_HUMAN	M	23	ENSP00000369126:I23M	ENSP00000369126:I23M	I	-	3	3	CSNK1A1L	36577325	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	0.975000	0.29449	-0.073000	0.12842	0.561000	0.74099	ATC		0.557	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		3	101	0	0	0	0.000602	0	3	101				
ATP7B	540	broad.mit.edu	37	13	52539088	52539088	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:52539088C>A	ENST00000242839.4	-	5	1945	c.1789G>T	c.(1789-1791)Gtt>Ttt	p.V597F	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.V597F|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.V597F|ATP7B_ENST00000400366.3_Missense_Mutation_p.V486F|ATP7B_ENST00000344297.5_Missense_Mutation_p.V597F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				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)	p.V597F(1)		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)	GCAAGGGCAACGGAGGCATAA	0.453									Wilson disease																														uc001vfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1789-1791)GTT>TTT		ATPase, Cu++ transporting, beta polypeptide							101.0	105.0	104.0					13																	52539088		2014	4191	6205	SO:0001583	missense	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.chr13:52539088C>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.1789G>T	13.37:g.52539088C>A	ENSP00000242839:p.Val597Phe					ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597F|ATP7B_uc001vfy.2_Missense_Mutation_p.V486F|ATP7B_uc010tgt.1_Missense_Mutation_p.V597F|ATP7B_uc010tgu.1_Missense_Mutation_p.V597F|ATP7B_uc010tgv.1_Missense_Mutation_p.V597F|ATP7B_uc010tgw.1_Intron	p.V597F	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	5	1946	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	597			HMA 6.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1789G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563050	0.96527	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.95	5.95	0.96441	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;0.999	D	0.97607	1.0127	10	0.87932	D	0	-27.9892	20.3932	0.98965	0.0:1.0:0.0:0.0	.	597;597;597;486;597;597	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	F	597;486;597;597;597	ENSP00000242839:V597F;ENSP00000383217:V486F;ENSP00000342559:V597F;ENSP00000416738:V597F;ENSP00000393343:V597F	ENSP00000242839:V597F	V	-	1	0	ATP7B	51437089	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.440000	0.80464	2.824000	0.97209	0.655000	0.94253	GTT		0.453	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		15	73	1	0	4.14922e-12	0.004007	6.54166e-12	15	73				
BORA	79866	broad.mit.edu	37	13	73320191	73320191	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:73320191A>G	ENST00000390667.5	+	9	945	c.848A>G	c.(847-849)cAg>cGg	p.Q283R	BORA_ENST00000377815.3_Missense_Mutation_p.Q213R	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	283					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.Q283R(1)									ATTGAATTTCAGATAGGAGAG	0.348																																							uc001viv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CAG>CGG		aurora borealis							116.0	109.0	111.0					13																	73320191		1810	4073	5883	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320191A>G	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.848A>G	13.37:g.73320191A>G	ENSP00000375082:p.Gln283Arg					C13orf34_uc010thq.1_Missense_Mutation_p.Q58R|C13orf34_uc010aen.1_Missense_Mutation_p.Q358R|C13orf34_uc010thr.1_Missense_Mutation_p.Q213R|C13orf34_uc001viw.1_Missense_Mutation_p.Q232R	p.Q283R	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	9	967	+		Breast(118;0.0735)	283					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.848A>G	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893912	0.33442	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.33216	1.42;1.43	5.69	5.69	0.88448	.	0.424023	0.28317	N	0.015781	T	0.49029	0.1533	M	0.62723	1.935	0.39911	D	0.97403	D;P;D;P	0.60575	0.988;0.902;0.988;0.902	P;P;P;P	0.57960	0.778;0.52;0.83;0.52	T	0.52487	-0.8569	10	0.59425	D	0.04	-6.1825	15.9518	0.79846	1.0:0.0:0.0:0.0	.	213;283;343;283	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	R	213;283	ENSP00000367046:Q213R;ENSP00000375082:Q283R	ENSP00000367046:Q213R	Q	+	2	0	BORA	72218192	1.000000	0.71417	0.911000	0.35937	0.150000	0.21749	6.748000	0.74877	2.180000	0.69256	0.533000	0.62120	CAG		0.348	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		3	143	0	0	0	0.000248	0	3	143				
MYCBP2	23077	broad.mit.edu	37	13	77779653	77779653	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:77779653T>G	ENST00000544440.2	-	25	3573	c.3556A>C	c.(3556-3558)Aag>Cag	p.K1186Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K1186Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K1224Q					MYC binding protein 2, E3 ubiquitin protein ligase									p.K1186Q(2)|p.K1224Q(1)		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)		GAATAAACCTTCATTACTGCT	0.348																																							uc001vkf.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(3556-3558)AAG>CAG		MYC binding protein 2							96.0	89.0	91.0					13																	77779653		2203	4298	6501	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77779653T>G	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.3556A>C	13.37:g.77779653T>G	ENSP00000444596:p.Lys1186Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.K590Q	p.K1186Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	26	3647	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1186						Missense_Mutation	SNP	ENST00000544440.2	37	c.3556A>C		.	.	.	.	.	.	.	.	.	.	T	18.20	3.572335	0.65765	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30981	1.51;1.51;1.51	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.25647	0.755	0.58432	D	0.999995	D	0.57899	0.981	D	0.67231	0.95	T	0.37220	-0.9715	10	0.59425	D	0.04	.	14.9237	0.70859	0.0:0.0:0.0:1.0	.	1186	O75592	MYCB2_HUMAN	Q	1186;1224;1186	ENSP00000349892:K1186Q;ENSP00000384288:K1224Q;ENSP00000444596:K1186Q	ENSP00000349892:K1186Q	K	-	1	0	MYCBP2	76677654	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.478000	0.81082	1.925000	0.55765	0.377000	0.23210	AAG		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		5	33	0	0	0	0.000602	0	5	33				
SLITRK5	26050	broad.mit.edu	37	13	88328487	88328487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:88328487G>T	ENST00000325089.6	+	2	1063	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	SLITRK5_ENST00000400028.3_Nonsense_Mutation_p.E41*	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	282	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.E282*(1)|p.E282K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCAAGCAGGAACTTTGCCC	0.542																																							uc001vln.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(844-846)GAA>TAA		SLIT and NTRK-like family, member 5 precursor							79.0	81.0	80.0					13																	88328487		2203	4300	6503	SO:0001587	stop_gained	26050					integral to membrane		g.chr13:88328487G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.844G>T	13.37:g.88328487G>T	ENSP00000366283:p.Glu282*					SLITRK5_uc010tic.1_Nonsense_Mutation_p.E41*	p.E282*	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1063	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		282			LRRCT 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Nonsense_Mutation	SNP	ENST00000325089.6	37	c.844G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242188	0.97408	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.5001	17.464	0.87627	0.0:0.0:1.0:0.0	.	.	.	.	X	282;41	.	.	E	+	1	0	SLITRK5	87126488	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.637000	0.83313	2.724000	0.93272	0.491000	0.48974	GAA		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			15	108	1	0	1.99824e-07	0.00499	2.75183e-07	15	108				
RPGRIP1	57096	broad.mit.edu	37	14	21795868	21795868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:21795868G>T	ENST00000400017.2	+	17	2797	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E590*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.E933*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E895*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.E292*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E259*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	933					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E549*(1)|p.E933*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATACCCCCTGAGAGCTTCCT	0.458																																							uc001wag.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|breast(2)|pancreas(1)	7						c.(2797-2799)GAG>TAG		retinitis pigmentosa GTPase regulator							78.0	74.0	75.0					14																	21795868		1842	4094	5936	SO:0001587	stop_gained	57096				response to stimulus|visual perception	cilium		g.chr14:21795868G>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2797G>T	14.37:g.21795868G>T	ENSP00000382895:p.Glu933*					RPGRIP1_uc001wah.2_Nonsense_Mutation_p.E575*|RPGRIP1_uc001wai.2_Nonsense_Mutation_p.E259*|RPGRIP1_uc001wak.2_Nonsense_Mutation_p.E408*|RPGRIP1_uc010aim.2_Nonsense_Mutation_p.E316*|RPGRIP1_uc001wal.2_Nonsense_Mutation_p.E292*|RPGRIP1_uc001wam.2_Nonsense_Mutation_p.E250*	p.E933*	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	17	2797	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	933					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	c.2797G>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	39	7.654456	0.98415	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	.	.	.	4.38	3.44	0.39384	.	0.514655	0.22248	N	0.062595	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-7.6122	9.1707	0.37078	0.1106:0.0:0.8894:0.0	.	.	.	.	X	590;895;933;933;259;408;292	.	ENSP00000206660:E933X	E	+	1	0	RPGRIP1	20865708	0.825000	0.29262	0.068000	0.19968	0.297000	0.27493	2.061000	0.41403	1.128000	0.42052	0.650000	0.86243	GAG		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		6	57	1	0	3.59834e-05	0.001168	4.51587e-05	6	57				
MYH6	4624	broad.mit.edu	37	14	23876300	23876300	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:23876300C>G	ENST00000356287.3	-	2	162	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	MYH6_ENST00000405093.3_Missense_Mutation_p.E45Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	45					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)	p.E45Q(1)		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)		TTGACAAACTCTTCCTTGTCA	0.582																																							uc001wjv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(133-135)GAG>CAG		myosin heavy chain 6							209.0	210.0	209.0					14																	23876300		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.chr14:23876300C>G	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.133G>C	14.37:g.23876300C>G	ENSP00000348634:p.Glu45Gln					MYH6_uc010akp.1_Missense_Mutation_p.E45Q	p.E45Q	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	3	200	-	all_cancers(95;2.54e-05)		45			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.133G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.018549	0.35606	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80738	-1.41;-1.41	3.53	3.53	0.40419	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.88392	0.6424	M	0.80422	2.495	0.43857	D	0.996453	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88080	0.2806	9	0.44086	T	0.13	.	11.6846	0.51479	0.1773:0.8227:0.0:0.0	.	45;45	D9YZU2;P13533	.;MYH6_HUMAN	Q	45	ENSP00000386041:E45Q;ENSP00000348634:E45Q	ENSP00000348634:E45Q	E	-	1	0	MYH6	22946140	0.898000	0.30612	1.000000	0.80357	0.089000	0.18198	1.994000	0.40757	1.974000	0.57490	0.455000	0.32223	GAG		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			6	457	0	0	0	0.001168	0	6	457				
RNF31	55072	broad.mit.edu	37	14	24618772	24618772	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:24618772G>C	ENST00000324103.6	+	6	1109	c.789G>C	c.(787-789)caG>caC	p.Q263H	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.Q112H|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000471700.2_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.Q112H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	263	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q263H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGGTCCTGCAGGGTACCCACC	0.557																																							uc001wmn.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(787-789)CAG>CAC		ring finger protein 31							65.0	66.0	66.0					14																	24618772		1958	4137	6095	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618772G>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.789G>C	14.37:g.24618772G>C	ENSP00000315112:p.Gln263His					PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.Q112H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q78H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.Q263H	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	6	1038	+			263			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.789G>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338214	0.24253	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.46819	0.86;0.87	5.53	-8.24	0.01029	.	1.201630	0.05956	N	0.639731	T	0.27489	0.0675	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.24728	-1.0152	10	0.48119	T	0.1	-6.8187	0.45	0.00500	0.3657:0.199:0.133:0.3023	.	78;263;112	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	H	263;112	ENSP00000315112:Q263H;ENSP00000372134:Q112H	ENSP00000315112:Q263H	Q	+	3	2	RNF31	23688612	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.424000	0.07025	-1.285000	0.02387	-0.182000	0.12963	CAG		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		19	59	0	0	0	0.00278	0	19	59				
GZMB	3002	broad.mit.edu	37	14	25103412	25103412	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:25103412T>A	ENST00000216341.4	-	0	61				GZMB_ENST00000526004.1_5'Flank|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_De_novo_Start_OutOfFrame|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_De_novo_Start_InFrame|GZMB_ENST00000382542.1_Missense_Mutation_p.Q19H			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)						apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q19H(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TGTTTCCTCCTTGCTCTCTTT	0.527																																							uc001wps.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(-47--43)CAAGG>CATGG		granzyme B precursor							111.0	103.0	105.0					14																	25103412		2199	4280	6479			3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25103412T>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.-46A>T	14.37:g.25103412T>A						GZMB_uc010ama.2_Translation_Start_Site|GZMB_uc010amb.2_RNA		NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	1	21	-								Q8N1D2|Q9UCC1	Translation_Start_Site	SNP	ENST00000216341.4	37	c.-45A>T	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415344	0.42817	.	.	ENSG00000100453	ENST00000382542	D	0.88975	-2.45	4.35	-1.28	0.09318	.	.	.	.	.	T	0.79046	0.4380	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.65619	-0.6124	5	.	.	.	.	2.4221	0.04450	0.1457:0.0975:0.4402:0.3166	.	.	.	.	H	19	ENSP00000371982:Q19H	.	Q	-	3	2	GZMB	24173252	0.000000	0.05858	0.002000	0.10522	0.234000	0.25298	0.065000	0.14466	-0.210000	0.10140	0.528000	0.53228	CAA		0.527	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		4	7	0	0	0	0.000248	0	4	7				
FANCM	57697	broad.mit.edu	37	14	45669130	45669130	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:45669130C>G	ENST00000267430.5	+	23	6151	c.6066C>G	c.(6064-6066)atC>atG	p.I2022M	FANCM_ENST00000542564.2_Missense_Mutation_p.I1996M	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2022	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.I2022M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTGAGGAGATCTATAGATATA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(6064-6066)ATC>ATG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							101.0	101.0	101.0					14																	45669130		2203	4297	6500	SO:0001583	missense	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45669130C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.6066C>G	14.37:g.45669130C>G	ENSP00000267430:p.Ile2022Met					FANCM_uc010anf.2_Missense_Mutation_p.I1996M|FANCM_uc001wwe.3_Missense_Mutation_p.I1558M|FANCM_uc010ang.2_Missense_Mutation_p.I1271M	p.I2022M	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			23	6165	+			2022			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.6066C>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.300011|3.300011	0.60195|0.60195	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.20881|.	2.04;2.04;2.04|.	5.93|5.93	3.07|3.07	0.35406|0.35406	RuvA domain 2-like (1);|.	0.119612|.	0.56097|.	D|.	0.000031|.	T|T	0.44767|0.44767	0.1309|0.1309	M|M	0.67953|0.67953	2.075|2.075	0.25523|0.25523	N|N	0.987343|0.987343	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70716|.	0.97;0.97|.	T|T	0.36962|0.36962	-0.9726|-0.9726	10|5	0.72032|.	D|.	0.01|.	.|.	5.0252|5.0252	0.14381|0.14381	0.267:0.5329:0.1292:0.0709|0.267:0.5329:0.1292:0.0709	.|.	1996;2022|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	M|V	2022;1996;1538|990	ENSP00000267430:I2022M;ENSP00000442493:I1996M;ENSP00000452033:I1538M|.	ENSP00000267430:I2022M|.	I|L	+|+	3|1	3|2	FANCM|FANCM	44738880|44738880	0.604000|0.604000	0.26932|0.26932	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	0.078000|0.078000	0.14761|0.14761	0.382000|0.382000	0.24878|0.24878	0.563000|0.563000	0.77884|0.77884	ATC|CTA		0.338	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		8	128	0	0	0	0.00308	0	8	128				
ZFYVE26	23503	broad.mit.edu	37	14	68256100	68256100	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:68256100G>C	ENST00000347230.4	-	16	3109	c.2971C>G	c.(2971-2973)Ctt>Gtt	p.L991V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L991V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	991					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L991V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTCTCCAAAAGCTGCTTGCAG	0.527																																							uc001xka.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(2971-2973)CTT>GTT		zinc finger, FYVE domain containing 26							69.0	73.0	71.0					14																	68256100		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68256100G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2971C>G	14.37:g.68256100G>C	ENSP00000251119:p.Leu991Val					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L991V	p.L991V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	16	3110	-			991					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2971C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826720	0.90955	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.55234	0.73;0.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.75224	-0.3393	10	0.87932	D	0	-14.2252	20.0522	0.97631	0.0:0.0:1.0:0.0	.	991;991	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	991;970;991	ENSP00000251119:L991V;ENSP00000450603:L991V	ENSP00000251119:L991V	L	-	1	0	ZFYVE26	67325853	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.616000	0.83018	2.737000	0.93849	0.563000	0.77884	CTT		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		7	90	0	0	0	0.001984	0	7	90				
C14orf159	80017	broad.mit.edu	37	14	91626659	91626659	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:91626659G>T	ENST00000523771.1	+	3	624	c.21G>T	c.(19-21)ctG>ctT	p.L7L	C14orf159_ENST00000518665.2_Silent_p.L7L|C14orf159_ENST00000298858.4_Silent_p.L7L|C14orf159_ENST00000523816.1_Silent_p.L7L|C14orf159_ENST00000519019.1_Silent_p.L7L|C14orf159_ENST00000521077.2_Silent_p.L7L|C14orf159_ENST00000412671.2_Silent_p.L7L|C14orf159_ENST00000518868.1_Silent_p.L7L|C14orf159_ENST00000256324.10_Silent_p.L7L|C14orf159_ENST00000428926.2_Silent_p.L7L|C14orf159_ENST00000525393.2_5'UTR|C14orf159_ENST00000517877.1_Silent_p.L7L|C14orf159_ENST00000522322.1_Silent_p.L7L|C14orf159_ENST00000520328.1_Silent_p.L7L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	7						mitochondrion (GO:0005739)		p.L7L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACTCCACCTGAGGTCCCGCC	0.483																																							uc001xzb.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(19-21)CTG>CTT		hypothetical protein LOC80017 isoform a							116.0	107.0	110.0					14																	91626659		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91626659G>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.21G>T	14.37:g.91626659G>T						C14orf159_uc010atu.1_Silent_p.L7L|C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Silent_p.L7L|C14orf159_uc001xyx.2_Silent_p.L7L|C14orf159_uc001xyw.2_Silent_p.L7L|C14orf159_uc001xzc.2_Silent_p.L7L|C14orf159_uc001xza.2_Silent_p.L7L|C14orf159_uc001xyv.2_Silent_p.L7L|C14orf159_uc001xyz.2_5'UTR|C14orf159_uc010twj.1_Silent_p.L7L|C14orf159_uc001xze.2_Silent_p.L7L	p.L7L	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	5	789	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	7					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.21G>T	CCDS32141.1																																																																																				0.483	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		20	70	1	0	3.7963e-18	0.00333	6.33837e-18	20	70				
TNFAIP2	7127	broad.mit.edu	37	14	103596402	103596402	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:103596402G>T	ENST00000560869.1	+	5	1678	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V347L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V16L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	347					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.V347L(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GGCTGAGGATGTGCCTCCCCA	0.652																																							uc001ymm.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1039-1041)GTG>TTG		tumor necrosis factor, alpha-induced protein 2							58.0	50.0	53.0					14																	103596402		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103596402G>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1039G>T	14.37:g.103596402G>T	ENSP00000452634:p.Val347Leu					TNFAIP2_uc010awo.1_Missense_Mutation_p.V59L|TNFAIP2_uc010txz.1_Missense_Mutation_p.V16L|TNFAIP2_uc010tya.1_5'Flank	p.V347L	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		4	1170	+		Melanoma(154;0.155)	347					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1039G>T	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125491	0.20959	.	.	ENSG00000185215	ENST00000333007;ENST00000451723	T;T	0.06608	3.28;3.28	4.37	3.32	0.38043	.	0.497398	0.20700	N	0.087291	T	0.05823	0.0152	L	0.47716	1.5	0.58432	D	0.999991	B;P	0.38280	0.166;0.625	B;B	0.37508	0.096;0.252	T	0.33701	-0.9858	10	0.33141	T	0.24	-21.3866	4.5736	0.12223	0.2147:0.0:0.7853:0.0	.	124;347	A1A584;Q03169	.;TNAP2_HUMAN	L	347;16	ENSP00000332326:V347L;ENSP00000393256:V16L	ENSP00000332326:V347L	V	+	1	0	TNFAIP2	102666155	0.121000	0.22262	0.997000	0.53966	0.281000	0.26958	0.844000	0.27654	1.982000	0.57802	0.313000	0.20887	GTG		0.652	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		12	17	1	0	1.61879e-10	0.001368	2.4368e-10	12	17				
TNFAIP2	7127	broad.mit.edu	37	14	103596404	103596404	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:103596404G>T	ENST00000560869.1	+	5	1680	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	TNFAIP2_ENST00000333007.1_Silent_p.V347V|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000451723.2_Silent_p.V16V			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	347					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.V347V(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGAGGATGTGCCTCCCCAGA	0.647																																							uc001ymm.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1039-1041)GTG>GTT		tumor necrosis factor, alpha-induced protein 2							57.0	49.0	52.0					14																	103596404		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103596404G>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1041G>T	14.37:g.103596404G>T						TNFAIP2_uc010awo.1_Silent_p.V59V|TNFAIP2_uc010txz.1_Silent_p.V16V|TNFAIP2_uc010tya.1_5'Flank	p.V347V	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		4	1172	+		Melanoma(154;0.155)	347					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.1041G>T	CCDS9979.1																																																																																				0.647	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		10	17	1	0	1.33987e-11	0.008291	2.08342e-11	10	17				
HERC2	8924	broad.mit.edu	37	15	28491134	28491134	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:28491134G>C	ENST00000261609.7	-	23	3578	c.3470C>G	c.(3469-3471)gCt>gGt	p.A1157G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.A1157G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGAGGTACAGCTCCAGCCTC	0.473																																							uc001zbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3469-3471)GCT>GGT		hect domain and RLD 2							116.0	97.0	104.0					15																	28491134		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491134G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3470C>G	15.37:g.28491134G>C	ENSP00000261609:p.Ala1157Gly						p.A1157G	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3576	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1157						Missense_Mutation	SNP	ENST00000261609.7	37	c.3470C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.665979	0.47677	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.61	5.61	0.85477	.	0.055211	0.64402	D	0.000001	T	0.39708	0.1088	L	0.44542	1.39	0.58432	D	0.99999	B	0.29162	0.235	B	0.29077	0.098	T	0.11227	-1.0596	10	0.23302	T	0.38	.	20.0085	0.97443	0.0:0.0:1.0:0.0	.	1157	O95714	HERC2_HUMAN	G	1157	ENSP00000261609:A1157G	ENSP00000261609:A1157G	A	-	2	0	HERC2	26164729	1.000000	0.71417	0.990000	0.47175	0.892000	0.51952	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GCT		0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	71	0	0	0	0.006214	0	10	71				
EMC4	51234	broad.mit.edu	37	15	34519984	34519984	+	Missense_Mutation	SNP	C	C	G	rs11544437		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:34519984C>G	ENST00000267750.4	+	3	408	c.292C>G	c.(292-294)Cct>Gct	p.P98A	EMC4_ENST00000557879.1_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Missense_Mutation_p.P98A|EMC4_ENST00000249209.4_Missense_Mutation_p.P98A	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	98			P -> T (in dbSNP:rs11544437).		apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.P98A(1)									CTCCATCTTCCCTACTATGAT	0.453																																							uc001zhq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CCT>GCT		transmembrane protein 85							180.0	154.0	163.0					15																	34519984		2201	4298	6499	SO:0001583	missense	51234				apoptosis	integral to membrane		g.chr15:34519984C>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.292C>G	15.37:g.34519984C>G	ENSP00000267750:p.Pro98Ala					TMEM85_uc001zhr.2_RNA|TMEM85_uc001zhs.2_Missense_Mutation_p.P98A|TMEM85_uc010bat.2_Intron	p.P98A	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)	3	363	+		all_lung(180;1.15e-06)	98			Helical; (Potential).		A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.292C>G	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612130	0.87258	.	.	ENSG00000128463	ENST00000267750;ENST00000249209	T;T	0.49720	0.77;0.77	6.17	5.26	0.73747	.	0.050939	0.85682	D	0.000000	T	0.69744	0.3145	M	0.85859	2.78	0.80722	D	1	P;D	0.63880	0.901;0.993	P;D	0.63703	0.475;0.917	T	0.75728	-0.3216	10	0.72032	D	0.01	-4.9872	14.2604	0.66080	0.0:0.9282:0.0:0.0718	.	98;98	Q5J8M3-2;Q5J8M3	.;TMM85_HUMAN	A	98	ENSP00000267750:P98A;ENSP00000249209:P98A	ENSP00000249209:P98A	P	+	1	0	TMEM85	32307276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.764000	0.74960	1.620000	0.50308	0.655000	0.94253	CCT		0.453	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		5	101	0	0	0	0.000602	0	5	101				
BAHD1	22893	broad.mit.edu	37	15	40757633	40757633	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:40757633A>T	ENST00000416165.1	+	6	2223	c.2152A>T	c.(2152-2154)Agg>Tgg	p.R718W	BAHD1_ENST00000560846.1_Splice_Site_p.R715W|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Splice_Site_p.R717W	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	718	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.R718W(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGAGTACTGCAGGTAGGTGGT	0.557																																							uc001zlu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2152-2154)AGG>TGG		bromo adjacent homology domain containing 1							204.0	140.0	162.0					15																	40757633		2203	4300	6503	SO:0001630	splice_region_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40757633A>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2153+1A>T	15.37:g.40757633A>T						BAHD1_uc001zlt.2_Missense_Mutation_p.R717W|BAHD1_uc010bbp.1_Missense_Mutation_p.R714W|BAHD1_uc001zlv.2_Missense_Mutation_p.R715W	p.R718W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	6	2223	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	718			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.2152A>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829101	0.90955	.	.	ENSG00000140320	ENST00000416165	D	0.86097	-2.07	5.75	5.75	0.90469	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94319	0.7552	10	0.87932	D	0	-12.4234	16.0518	0.80769	1.0:0.0:0.0:0.0	.	715;718;717	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	W	718	ENSP00000396976:R718W	ENSP00000396976:R718W	R	+	1	2	BAHD1	38544925	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.026000	0.76455	2.191000	0.70037	0.533000	0.62120	AGG		0.557	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	Missense_Mutation	8	35	0	0	0	0.004482	0	8	35				
FBN1	2200	broad.mit.edu	37	15	48755419	48755419	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:48755419C>A	ENST00000316623.5	-	42	5539	c.5084G>T	c.(5083-5085)tGc>tTc	p.C1695F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1695	TB 7.		Missing (in WMS2). {ECO:0000269|PubMed:12525539}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1695F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTTCTGTAGCACAAACTTCT	0.423																																							uc001zwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(5083-5085)TGC>TTC		fibrillin 1 precursor							122.0	116.0	118.0					15																	48755419		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48755419C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5084G>T	15.37:g.48755419C>A	ENSP00000325527:p.Cys1695Phe					FBN1_uc010beo.1_RNA	p.C1695F	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	42	5412	-		all_lung(180;0.00279)	1695		Missing (in ADWMS).	TB 7.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5084G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632031	0.87660	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.98234	-4.81	5.96	5.96	0.96718	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.94306	3.52	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.98917	1.0782	10	0.56958	D	0.05	.	19.989	0.97359	0.0:1.0:0.0:0.0	.	1695	P35555	FBN1_HUMAN	F	1695;263;585	ENSP00000325527:C1695F	ENSP00000325527:C1695F	C	-	2	0	FBN1	46542711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.830000	0.97506	0.585000	0.79938	TGC		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			19	88	1	0	1.36565e-18	0.00278	2.30046e-18	19	88				
LIPC	3990	broad.mit.edu	37	15	58834830	58834830	+	Missense_Mutation	SNP	A	A	T	rs375429385		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:58834830A>T	ENST00000356113.6	+	6	1169	c.554A>T	c.(553-555)cAc>cTc	p.H185L	LIPC_ENST00000299022.5_Missense_Mutation_p.H185L|LIPC_ENST00000433326.2_Missense_Mutation_p.H124L|LIPC_ENST00000414170.3_Missense_Mutation_p.H185L			P11150	LIPC_HUMAN	lipase, hepatic	185	Heparin-binding. {ECO:0000255}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.H185L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GGTGGAACGCACAAGATTGGG	0.512																																							uc010bga.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)CAC>CTC		lipase C precursor							182.0	154.0	163.0					15																	58834830		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834830A>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.554A>T	15.37:g.58834830A>T	ENSP00000348425:p.His185Leu					LIPC_uc010bfz.1_Missense_Mutation_p.H185L|LIPC_uc002afa.1_Missense_Mutation_p.H185L|LIPC_uc010bgb.1_Missense_Mutation_p.H83L|LIPC_uc010ugy.1_Missense_Mutation_p.H124L	p.H185L	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	6	1162	+		Colorectal(260;0.215)	185			Heparin-binding (Potential).		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.554A>T	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897350	0.33535	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.21	-1.84	0.07809	Lipase, N-terminal (1);	0.764552	0.12777	N	0.439970	D	0.82669	0.5087	L	0.28274	0.84	0.09310	N	0.999995	B;B	0.33266	0.0;0.404	B;B	0.36608	0.0;0.229	T	0.73445	-0.3980	10	0.62326	D	0.03	.	7.3251	0.26551	0.6821:0.1128:0.2051:0.0	.	124;185	E7EUK6;P11150	.;LIPC_HUMAN	L	185;185;185;124	ENSP00000348425:H185L;ENSP00000395569:H185L;ENSP00000299022:H185L;ENSP00000395002:H124L	ENSP00000299022:H185L	H	+	2	0	LIPC	56622122	0.810000	0.29049	0.497000	0.27552	0.516000	0.34256	0.865000	0.27940	-0.245000	0.09625	-1.122000	0.02009	CAC		0.512	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	73	0	0	0	0.004482	0	7	73				
PARP16	54956	broad.mit.edu	37	15	65553264	65553264	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:65553264T>A	ENST00000444347.2	-	3	863	c.447A>T	c.(445-447)cgA>cgT	p.R149R	PARP16_ENST00000261888.6_Silent_p.R264R			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	264	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.R264R(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGTACTTCACTCGCAGCAGCT	0.483																																					NSCLC(50;885 1163 13509 21242 41978)	NSCLC(50;885 1163 13509 21242 41978)	uc002aoo.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(790-792)CGA>CGT		poly (ADP-ribose) polymerase family, member 16							193.0	170.0	178.0					15																	65553264		2201	4299	6500	SO:0001819	synonymous_variant	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65553264T>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.447A>T	15.37:g.65553264T>A						PARP16_uc002aop.2_Silent_p.R149R|PARP16_uc002aoq.2_Silent_p.R264R	p.R264R	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN			5	1046	-			264			PARP catalytic.		Q6PK64|Q9NX03	Silent	SNP	ENST00000444347.2	37	c.792A>T																																																																																					0.483	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		24	129	0	0	0	0.00333	0	24	129				
CSPG4	1464	broad.mit.edu	37	15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A	rs376877916		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|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)	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582																																							uc002baw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(304-306)ACG>ATG		chondroitin sulfate proteoglycan 4 precursor							74.0	76.0	75.0					15																	75983101		2197	4292	6489	SO:0001583	missense	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.chr15:75983101G>A	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.305C>T	15.37:g.75983101G>A	ENSP00000312506:p.Thr102Met						p.T102M	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	398	-			102			Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.305C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	8.856	0.945846	0.18356	.	.	ENSG00000173546	ENST00000308508	T	0.76448	-1.02	4.76	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.974748	0.08422	N	0.948158	T	0.57740	0.2074	N	0.17474	0.49	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.43540	-0.9385	10	0.39692	T	0.17	.	5.4911	0.16777	0.6183:0.0:0.2248:0.1569	.	102	Q6UVK1	CSPG4_HUMAN	M	102	ENSP00000312506:T102M	ENSP00000312506:T102M	T	-	2	0	CSPG4	73770156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.310000	0.19356	-0.116000	0.11893	-0.263000	0.10527	ACG		0.582	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		6	79	0	0	0	0.00308	0	6	79				
CPEB1	64506	broad.mit.edu	37	15	83221230	83221230	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:83221230C>G	ENST00000562019.1	-	8	1531	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	CPEB1_ENST00000261723.6_Splice_Site_p.E403D|CPEB1_ENST00000564522.1_Splice_Site_p.E325D|CPEB1_ENST00000568128.1_Splice_Site_p.E400D|RP11-152F13.10_ENST00000562833.1_Splice_Site_p.R135T|CPEB1_ENST00000450751.2_Splice_Site_p.E325D|CPEB1_ENST00000568757.1_Splice_Site_p.E325D|CPEB1_ENST00000398591.2_Splice_Site_p.E330D|CPEB1_ENST00000563800.1_Splice_Site_p.E427D|CPEB1_ENST00000423133.2_Splice_Site_p.E325D|CPEB1_ENST00000398592.2_Splice_Site_p.E174D|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	405	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.E400D(1)|p.E330D(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTAACTCACCTCCTTGCAGC	0.517																																							uc002bit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1393-1395)GAG>GAC		cytoplasmic polyadenylation element binding							63.0	62.0	62.0					15																	83221230		2122	4248	6370	SO:0001630	splice_region_variant	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83221230C>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1215+1G>C	15.37:g.83221230C>G						CPEB1_uc002biq.2_Missense_Mutation_p.E325D|CPEB1_uc002bir.2_Missense_Mutation_p.E330D|CPEB1_uc002bis.2_Missense_Mutation_p.E325D|CPEB1_uc010uod.1_Missense_Mutation_p.E174D|CPEB1_uc010uoe.1_Missense_Mutation_p.E403D|CPEB1_uc002biu.2_Missense_Mutation_p.E427D|CPEB1_uc010uof.1_Missense_Mutation_p.E325D|CPEB1_uc002biv.2_Missense_Mutation_p.E400D|CPEB1_uc002bip.2_Missense_Mutation_p.E174D	p.E465D	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	1532	-			405			RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1395G>C		.	.	.	.	.	.	.	.	.	.	C	11.59	1.683336	0.29872	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.84	4.92	0.64577	RNA recognition motif domain (1);	0.058019	0.64402	U	0.000002	T	0.16514	0.0397	N	0.12746	0.255	0.46678	D	0.999159	B;B;B;B	0.20368	0.044;0.016;0.032;0.016	B;B;B;B	0.25987	0.019;0.011;0.065;0.011	T	0.06499	-1.0823	9	.	.	.	-15.7693	15.3291	0.74193	0.0:0.9321:0.0:0.0679	.	403;400;405;400	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	D	400;400;325;330;403;174	ENSP00000397526:E325D;ENSP00000381591:E330D;ENSP00000261723:E403D;ENSP00000381592:E174D	.	E	-	3	2	CPEB1	81018285	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.536000	0.36072	1.450000	0.47717	0.563000	0.77884	GAG		0.517	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	Missense_Mutation	6	33	0	0	0	0.001168	0	6	33				
NGRN	51335	broad.mit.edu	37	15	90808965	90808965	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:90808965C>T	ENST00000379095.3	+	1	29	c.21C>T	c.(19-21)ctC>ctT	p.L7L	RP11-697E2.6_ENST00000561573.1_Intron|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	7					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L7L(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCCTGAGTCTCTTGCTGGGCG	0.677																																							uc002bpf.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(19-21)CTC>CTT		neugrin							18.0	21.0	20.0					15																	90808965		2196	4293	6489	SO:0001819	synonymous_variant	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90808965C>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.21C>T	15.37:g.90808965C>T						TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR	p.L7L	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		1	71	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		7					B2R6M8|Q4V9L7|Q9HBL4	Silent	SNP	ENST00000379095.3	37	c.21C>T	CCDS32329.1																																																																																				0.677	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			5	24	0	0	0	0.001168	0	5	24				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	14	0	0	0	0.004672	0	3	14				
LUC7L	55692	broad.mit.edu	37	16	239215	239215	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:239215C>G	ENST00000293872.8	-	10	1208	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	LUC7L_ENST00000397783.1_3'UTR|LUC7L_ENST00000337351.4_3'UTR|LA16c-OS12.2_ENST00000595428.1_lincRNA	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	366					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)	p.K366N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGCCGGCCTCCTTCTCTTCTG	0.552																																							uc002cgc.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1096-1098)AAG>AAC		LUC7-like isoform b							110.0	125.0	120.0					16																	239215		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:239215C>G	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.1098G>C	16.37:g.239215C>G	ENSP00000293872:p.Lys366Asn					LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.K280N	p.K366N	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN			10	1209	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	366					B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.1098G>C	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731162	0.48939	.	.	ENSG00000007392	ENST00000293872;ENST00000429378	T	0.46819	0.86	5.1	2.77	0.32553	.	0.112225	0.64402	D	0.000017	T	0.25680	0.0625	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.15870	0.014	T	0.10776	-1.0615	10	0.72032	D	0.01	.	4.0112	0.09623	0.1883:0.5528:0.0:0.2589	.	366	Q9NQ29	LUC7L_HUMAN	N	366;165	ENSP00000413033:K165N	ENSP00000293872:K366N	K	-	3	2	LUC7L	179216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.678000	0.37586	1.143000	0.42306	0.655000	0.94253	AAG		0.552	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			14	199	0	0	0	0.006122	0	14	199				
PKD1	5310	broad.mit.edu	37	16	2147731	2147731	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:2147731C>G	ENST00000262304.4	-	32	10426	c.10218G>C	c.(10216-10218)aaG>aaC	p.K3406N	RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.K3405N	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3406					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K3406N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAACCCACCTCTTAGAATCAT	0.587																																							uc002cos.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(10216-10218)AAG>AAC		polycystin 1 isoform 1 precursor							74.0	86.0	82.0					16																	2147731		2197	4292	6489	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147731C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10218G>C	16.37:g.2147731C>G	ENSP00000262304:p.Lys3406Asn					PKD1_uc002cot.1_Missense_Mutation_p.K3405N|PKD1_uc010bse.1_RNA	p.K3406N	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			32	10427	-			3406			Cytoplasmic (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10218G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944034	0.53079	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37915	1.17;1.17	4.44	2.17	0.27698	.	0.327937	0.32372	N	0.006191	T	0.52289	0.1725	M	0.73962	2.25	0.40959	D	0.984603	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.893	T	0.49254	-0.8959	10	0.54805	T	0.06	.	4.7288	0.12954	0.0:0.2602:0.1718:0.5679	.	3405;3406	P98161-3;P98161	.;PKD1_HUMAN	N	3406;3405;2740	ENSP00000262304:K3406N;ENSP00000399501:K3405N	ENSP00000262304:K3406N	K	-	3	2	PKD1	2087732	0.962000	0.33011	0.997000	0.53966	0.896000	0.52359	-0.147000	0.10234	0.262000	0.21774	-0.378000	0.06908	AAG		0.587	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			6	128	0	0	0	0.001984	0	6	128				
THOC6	79228	broad.mit.edu	37	16	3074344	3074344	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:3074344C>T	ENST00000326266.8	+	1	313	c.17C>T	c.(16-18)cCg>cTg	p.P6L	THOC6_ENST00000574549.1_5'UTR|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000575576.1_5'UTR|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.P6L	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	6					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.P6L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGAGCTGTGCCGCTCGCGGTG	0.647																																							uc002ctb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(16-18)CCG>CTG		WD repeat domain 58 isoform 1							112.0	100.0	104.0					16																	3074344		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3074344C>T	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.17C>T	16.37:g.3074344C>T	ENSP00000326531:p.Pro6Leu					HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.P6L|THOC6_uc002ctc.2_5'UTR|THOC6_uc002cta.2_5'UTR	p.P6L	NM_024339	NP_077315	Q86W42	THOC6_HUMAN			1	313	+			6					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.17C>T	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824641	0.16678	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.70869	-0.52;-0.49	4.22	-0.112	0.13572	.	0.849604	0.10493	N	0.668245	T	0.51736	0.1692	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.28208	0.001;0.203	B;B	0.15052	0.0;0.012	T	0.36311	-0.9753	10	0.39692	T	0.17	-9.8529	2.995	0.05995	0.381:0.4065:0.0:0.2125	.	6;6	Q86W42-3;Q86W42	.;THOC6_HUMAN	L	6	ENSP00000326531:P6L;ENSP00000253952:P6L	ENSP00000253952:P6L	P	+	2	0	THOC6	3014345	0.002000	0.14202	0.001000	0.08648	0.271000	0.26615	0.337000	0.19841	0.144000	0.18951	0.561000	0.74099	CCG		0.647	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		5	36	0	0	0	0.001984	0	5	36				
SNX29	92017	broad.mit.edu	37	16	12142251	12142251	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:12142251G>T	ENST00000566228.1	+	7	591	c.522G>T	c.(520-522)gcG>gcT	p.A174A	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	174	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.A174A(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TACTCTTTGCGATTAACATCG	0.483																																							uc002dbw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(520-522)GCG>GCT		RUN domain containing 2A							140.0	136.0	138.0					16																	12142251		2197	4300	6497	SO:0001819	synonymous_variant	84127							g.chr16:12142251G>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.522G>T	16.37:g.12142251G>T							p.A174A	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			7	584	+			174			RUN.		B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.522G>T	CCDS10553.2																																																																																				0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			29	127	1	0	3.1745e-13	0.008361	5.10445e-13	29	127				
MYH11	4629	broad.mit.edu	37	16	15815397	15815397	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:15815397G>C	ENST00000300036.5	-	32	4569	c.4460C>G	c.(4459-4461)tCc>tGc	p.S1487C	NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.S1494C|MYH11_ENST00000576790.2_Missense_Mutation_p.S1487C|MYH11_ENST00000396324.3_Missense_Mutation_p.S1494C	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1487					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)	p.S1494C(1)|p.S1487C(1)		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						CCGAGCCAGGGACAGGGCCTT	0.537			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4459-4461)TCC>TGC		smooth muscle myosin heavy chain 11 isoform							87.0	86.0	86.0					16																	15815397		2197	4300	6497	SO:0001583	missense	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.chr16:15815397G>C	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.4460C>G	16.37:g.15815397G>C	ENSP00000300036:p.Ser1487Cys					MYH11_uc002ddv.2_Missense_Mutation_p.S1494C|MYH11_uc002ddw.2_Missense_Mutation_p.S1487C|MYH11_uc002ddx.2_Missense_Mutation_p.S1494C|MYH11_uc010bvg.2_Missense_Mutation_p.S1319C|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S193C|NDE1_uc002ddz.1_5'Flank	p.S1487C	NM_002474	NP_002465	P35749	MYH11_HUMAN			32	4567	-			1487			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4460C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494672	0.85069	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	4.84	4.84	0.62591	Myosin tail (1);	0.064070	0.64402	D	0.000004	D	0.89104	0.6620	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.994;0.997	D;D;D;D;D	0.76071	0.987;0.964;0.964;0.964;0.981	D	0.91165	0.4964	10	0.87932	D	0	.	16.9271	0.86179	0.0:0.0:1.0:0.0	.	1494;1487;1494;1487;1494	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	C	1487;1487;1494;1494;1494	ENSP00000300036:S1487C;ENSP00000345136:S1487C;ENSP00000379616:S1494C;ENSP00000407821:S1494C	ENSP00000300036:S1487C	S	-	2	0	MYH11	15722898	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.807000	0.99171	2.224000	0.72417	0.313000	0.20887	TCC		0.537	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	78	0	0	0	0.000248	0	4	78				
SMG1	23049	broad.mit.edu	37	16	18826800	18826800	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:18826800G>C	ENST00000446231.2	-	59	10888	c.10476C>G	c.(10474-10476)atC>atG	p.I3492M	SMG1_ENST00000389467.3_Missense_Mutation_p.I3493M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3492					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I3492M(1)|p.I3488M(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGTGGGAGTGATTTCCTGGA	0.373																																							uc002dfm.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10474-10476)ATC>ATG		PI-3-kinase-related kinase SMG-1							171.0	149.0	156.0					16																	18826800		1860	4112	5972	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18826800G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10476C>G	16.37:g.18826800G>C	ENSP00000402515:p.Ile3492Met					SMG1_uc010bwb.2_Missense_Mutation_p.I3352M|SMG1_uc010bwa.2_Missense_Mutation_p.I2223M	p.I3492M	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			59	10839	-			3492					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10476C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230351	0.39399	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01185	5.21;5.21	5.98	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.02455	0.0075	L	0.44542	1.39	0.30092	N	0.808264	D	0.54964	0.969	P	0.53490	0.727	T	0.20672	-1.0268	10	0.66056	D	0.02	.	9.275	0.37694	0.1006:0.0:0.5545:0.3449	.	3492	Q96Q15	SMG1_HUMAN	M	3492;3493	ENSP00000402515:I3492M;ENSP00000374118:I3493M	ENSP00000374118:I3493M	I	-	3	3	SMG1	18734301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.112000	0.31172	0.674000	0.31244	-0.145000	0.13849	ATC		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	113	0	0	0	0.000248	0	4	113				
SEZ6L2	26470	broad.mit.edu	37	16	29899882	29899882	+	Missense_Mutation	SNP	C	C	A	rs143818590	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:29899882C>A	ENST00000308713.5	-	6	1545	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G270C|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.G226C|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G296C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	340	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G270C(1)|p.G340C(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGTTTCACCGTTCCAGGAT	0.627																																							uc002duq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1018-1020)GGT>TGT		seizure related 6 homolog (mouse)-like 2 isoform							81.0	68.0	72.0					16																	29899882		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29899882C>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1018G>T	16.37:g.29899882C>A	ENSP00000312550:p.Gly340Cys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G270C|SEZ6L2_uc002dur.3_Missense_Mutation_p.G270C|SEZ6L2_uc002dus.3_Missense_Mutation_p.G226C|SEZ6L2_uc010vec.1_Missense_Mutation_p.G340C|SEZ6L2_uc010ved.1_Missense_Mutation_p.G296C	p.G340C	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			6	1258	-			340			Sushi 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1018G>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817958	0.32145	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.52	1.37	0.22104	Complement control module (2);Sushi/SCR/CCP (3);	0.349384	0.24485	N	0.038103	T	0.61788	0.2375	H	0.95745	3.715	0.26405	N	0.976359	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.993;0.996;0.994;0.99;0.994;0.993	T	0.55921	-0.8064	10	0.52906	T	0.07	.	8.7766	0.34765	0.0:0.676:0.0:0.324	.	296;340;226;270;340;270	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	C	270;340;226;296	ENSP00000310206:G270C;ENSP00000312550:G340C;ENSP00000319215:G226C;ENSP00000439412:G296C	ENSP00000312550:G340C	G	-	1	0	SEZ6L2	29807383	0.000000	0.05858	0.048000	0.18961	0.023000	0.10783	0.389000	0.20751	0.032000	0.15435	0.650000	0.86243	GGT		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		5	33	1	0	3.59834e-05	0.001168	4.51587e-05	5	33				
SRCAP	10847	broad.mit.edu	37	16	30750800	30750800	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:30750800G>T	ENST00000262518.4	+	34	9824	c.9439G>T	c.(9439-9441)Ggg>Tgg	p.G3147W	SRCAP_ENST00000395059.2_Missense_Mutation_p.G3085W|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.G2989W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3147					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)	p.G3147W(1)		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)			CCCAGTTGGTGGGAGTCCTGG	0.642																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(9439-9441)GGG>TGG		Snf2-related CBP activator protein							22.0	25.0	24.0					16																	30750800		2197	4298	6495	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.chr16:30750800G>T	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.9439G>T	16.37:g.30750800G>T	ENSP00000262518:p.Gly3147Trp					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G2942W	p.G3147W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9824	+			3147					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.9439G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	2.862	-0.236008	0.05944	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93763	-3.22;-3.28;-3.27	4.97	2.89	0.33648	.	0.521543	0.16404	N	0.215898	D	0.86785	0.6016	N	0.08118	0	0.09310	N	1	D;P	0.53885	0.963;0.806	P;B	0.48368	0.575;0.371	T	0.79567	-0.1750	10	0.87932	D	0	-2.8572	8.1166	0.30946	0.1954:0.0:0.8046:0.0	.	3085;3147	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	3147;3085;2989	ENSP00000262518:G3147W;ENSP00000378499:G3085W;ENSP00000343042:G2989W	ENSP00000262518:G3147W	G	+	1	0	SRCAP	30658301	0.569000	0.26643	0.058000	0.19502	0.982000	0.71751	1.465000	0.35299	0.593000	0.29745	0.462000	0.41574	GGG		0.642	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	26	1	0	5.18039e-06	0.00308	6.7716e-06	6	26				
HSD3B7	80270	broad.mit.edu	37	16	30999168	30999168	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:30999168C>A	ENST00000297679.5	+	7	867	c.774C>A	c.(772-774)ttC>ttA	p.F258L	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	258					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.F258L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGTATACTTCTGCTACGATG	0.647																																							uc002eaf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)TTC>TTA		hydroxy-delta-5-steroid dehydrogenase, 3 beta-							106.0	102.0	104.0					16																	30999168		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999168C>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.774C>A	16.37:g.30999168C>A	ENSP00000297679:p.Phe258Leu					HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.F258L	p.F258L	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			7	880	+			258					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.774C>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006683	0.93287	.	.	ENSG00000099377	ENST00000297679	D	0.90069	-2.61	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.145981	0.64402	D	0.000008	D	0.92028	0.7474	M	0.68317	2.08	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	D	0.92349	0.5888	10	0.66056	D	0.02	-16.1253	11.5619	0.50782	0.0:0.9129:0.0:0.0871	.	258	Q9H2F3	3BHS7_HUMAN	L	258	ENSP00000297679:F258L	ENSP00000297679:F258L	F	+	3	2	HSD3B7	30906669	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.490000	0.53245	2.362000	0.80069	0.655000	0.94253	TTC		0.647	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			19	135	1	0	2.4624e-09	0.008871	3.62004e-09	19	135				
ABCC11	85320	broad.mit.edu	37	16	48226557	48226557	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:48226557G>T	ENST00000394747.1	-	19	2929	c.2580C>A	c.(2578-2580)tcC>tcA	p.S860S	ABCC11_ENST00000353782.5_Silent_p.S860S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Silent_p.S860S|ABCC11_ENST00000394748.1_Silent_p.S860S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	860	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.S860S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCTGGTAGAAGGACAGTTGAG	0.557																																							uc002eff.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2578-2580)TCC>TCA		ATP-binding cassette, sub-family C, member 11							153.0	144.0	147.0					16																	48226557		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48226557G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2580C>A	16.37:g.48226557G>T						ABCC11_uc002efg.1_Silent_p.S860S|ABCC11_uc002efh.1_Silent_p.S860S|ABCC11_uc010vgk.1_RNA	p.S860S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			19	2930	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	860			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.2580C>A	CCDS10732.1																																																																																				0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		17	85	1	0	1.99824e-07	0.00499	2.75183e-07	17	85				
NKD1	85407	broad.mit.edu	37	16	50667195	50667195	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:50667195C>G	ENST00000268459.3	+	10	1140	c.916C>G	c.(916-918)Cca>Gca	p.P306A		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	306					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P306A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCACATCCCACACCGAAA	0.642																																							uc002egg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(916-918)CCA>GCA		naked cuticle homolog 1							126.0	131.0	130.0					16																	50667195		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667195C>G	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.916C>G	16.37:g.50667195C>G	ENSP00000268459:p.Pro306Ala						p.P306A	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1140	+		all_cancers(37;0.229)	306					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.916C>G	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881674	0.17467	.	.	ENSG00000140807	ENST00000268459	T	0.61742	0.08	4.44	3.47	0.39725	.	0.103207	0.64402	D	0.000003	T	0.48768	0.1518	L	0.44542	1.39	0.31248	N	0.694383	B	0.22683	0.073	B	0.24701	0.055	T	0.52845	-0.8521	10	0.33940	T	0.23	-2.2334	12.2852	0.54788	0.169:0.831:0.0:0.0	.	306	Q969G9	NKD1_HUMAN	A	306	ENSP00000268459:P306A	ENSP00000268459:P306A	P	+	1	0	NKD1	49224696	0.993000	0.37304	0.998000	0.56505	0.727000	0.41649	2.634000	0.46528	1.052000	0.40392	0.585000	0.79938	CCA		0.642	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			5	118	0	0	0	0.001168	0	5	118				
SF3B3	23450	broad.mit.edu	37	16	70602365	70602365	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:70602365G>T	ENST00000302516.5	+	22	3343	c.3132G>T	c.(3130-3132)gtG>gtT	p.V1044V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1044					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.V1044V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATGACACTGTGGCTGGGGCAG	0.483																																							uc002ezf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3130-3132)GTG>GTT		splicing factor 3b, subunit 3							130.0	120.0	123.0					16																	70602365		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602365G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3132G>T	16.37:g.70602365G>T							p.V1044V	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			22	3343	+		Ovarian(137;0.0694)	1044					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3132G>T	CCDS10894.1																																																																																				0.483	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		5	34	1	0	0.00116845	0.001168	0.00135799	5	34				
GEMIN4	50628	broad.mit.edu	37	17	650508	650508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:650508C>A	ENST00000319004.5	-	2	893	c.775G>T	c.(775-777)Gag>Tag	p.E259*	GEMIN4_ENST00000437269.1_Missense_Mutation_p.R171S|GEMIN4_ENST00000576778.1_Nonsense_Mutation_p.E248*	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	259					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E259*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACACCTCCTGGGGGTCG	0.607																																							uc002frs.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(775-777)GAG>TAG		gemin 4							99.0	109.0	105.0					17																	650508		2174	4262	6436	SO:0001587	stop_gained	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650508C>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.775G>T	17.37:g.650508C>A	ENSP00000321706:p.Glu259*					GEMIN4_uc010vqa.1_Missense_Mutation_p.R171S	p.E259*	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	894	-		Myeloproliferative disorder(207;0.204)	259					Q9NZS7|Q9UG32|Q9Y4Q2	Nonsense_Mutation	SNP	ENST00000319004.5	37	c.775G>T	CCDS45559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.123506|4.123506	0.77436|0.77436	.|.	.|.	ENSG00000179409|ENSG00000179409	ENST00000319004|ENST00000437269	.|.	.|.	.|.	5.5|5.5	4.47|4.47	0.54385|0.54385	.|.	0.937589|.	0.08971|.	N|.	0.867187|.	.|T	.|0.38188	.|0.1031	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999943|0.999943	.|B	.|0.22003	.|0.063	.|B	.|0.14023	.|0.01	.|T	.|0.26677	.|-1.0096	.|7	0.36615|0.66056	T|D	0.2|0.02	-12.3503|-12.3503	11.9414|11.9414	0.52903|0.52903	0.0:0.7045:0.2955:0.0|0.0:0.7045:0.2955:0.0	.|.	.|171	.|E7EN12	.|.	X|S	259|171	.|.	ENSP00000321706:E259X|ENSP00000392460:R171S	E|R	-|-	1|3	0|2	GEMIN4|GEMIN4	597258|597258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	1.840000|1.840000	0.39230|0.39230	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		17	155	1	0	1.99824e-07	0.00499	2.75183e-07	17	155				
OR3A4P	390756	broad.mit.edu	37	17	3214440	3214440	+	RNA	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:3214440T>G	ENST00000573491.1	-	0	359																		p.I279S(1)									GGCATTGGCATCCTCAACACT	0.567																																							uc002fvi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)ATC>AGC		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							233.0	186.0	202.0					17																	3214440		2203	4300	6503			390756							g.chr17:3214440T>G																													17.37:g.3214440T>G							p.I279S	NR_024128						1	902	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.836T>G																																																																																					0.567	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			4	147	0	0	0	0.000248	0	4	147				
SPNS3	201305	broad.mit.edu	37	17	4356383	4356383	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:4356383G>T	ENST00000355530.2	+	8	1276	c.996G>T	c.(994-996)agG>agT	p.R332S	SPNS3_ENST00000333476.2_Missense_Mutation_p.R205S|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	332					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R332S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGCGAGGAGGTACAAGAAAG	0.607																																							uc002fxt.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(994-996)AGG>AGT		spinster homolog 3							119.0	114.0	116.0					17																	4356383		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4356383G>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.996G>T	17.37:g.4356383G>T	ENSP00000347721:p.Arg332Ser					SPNS3_uc002fxu.2_Missense_Mutation_p.R205S|SPNS3_uc002fxv.2_Missense_Mutation_p.R16S	p.R332S	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			8	1040	+			332					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.996G>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	6.679	0.493954	0.12702	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.64618	-0.11;-0.11	4.68	-2.93	0.05598	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.840103	0.10821	N	0.630524	T	0.44932	0.1317	L	0.50847	1.595	0.24140	N	0.995732	B;B	0.14438	0.008;0.01	B;B	0.19148	0.013;0.024	T	0.30909	-0.9962	10	0.21014	T	0.42	-2.2686	1.4742	0.02422	0.2875:0.2141:0.3773:0.1211	.	205;332	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	S	332;205	ENSP00000347721:R332S;ENSP00000333207:R205S	ENSP00000333207:R205S	R	+	3	2	SPNS3	4303132	0.009000	0.17119	0.315000	0.25238	0.588000	0.36517	-0.298000	0.08265	-0.298000	0.08921	0.442000	0.29010	AGG		0.607	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		18	125	1	0	2.94398e-08	0.007413	4.16574e-08	18	125				
TP53	7157	broad.mit.edu	37	17	7579457	7579457	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:7579457G>A	ENST00000269305.4	-	4	419	c.230C>T	c.(229-231)cCa>cTa	p.P77L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P77L|TP53_ENST00000445888.2_Missense_Mutation_p.P77L|TP53_ENST00000455263.2_Missense_Mutation_p.P77L|TP53_ENST00000413465.2_Missense_Mutation_p.P77L|TP53_ENST00000359597.4_Missense_Mutation_p.P77L	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	77	Interaction with HRMT1L2.|Interaction with WWOX.		P -> A (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.P77L(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.P77fs*71(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A74fs*71(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)	AGGAGCTGCTGGTGCAGGGGC	0.617		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		24	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(3)|Deletion - In frame(3)	p.0?(7)|p.A76_S90del15(3)|p.P77A(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.P77fs*71(1)|p.D48fs*55(1)|p.P77fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A74fs*71(1)	lung(5)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(229-231)CCA>CTA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							69.0	77.0	74.0					17																	7579457		2203	4299	6502	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.chr17:7579457G>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.230C>T	17.37:g.7579457G>A	ENSP00000269305:p.Pro77Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.P77L|TP53_uc002gih.2_Missense_Mutation_p.P77L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P77L|TP53_uc010cni.1_Missense_Mutation_p.P77L|TP53_uc002gij.2_Missense_Mutation_p.P77L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P38L|TP53_uc010cnk.1_Missense_Mutation_p.P92L	p.P77L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	424	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	77		P -> A (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		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.230C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288805	0.23478	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99399	-5.32;-5.83;-5.55;-5.83;-5.83;-5.55;-4.2;-2.1	3.84	2.84	0.33178	.	1.967970	0.01943	N	0.042045	D	0.96981	0.9014	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.30406	0.02;0.179;0.004;0.069;0.001;0.126;0.278	B;B;B;B;B;B;B	0.27170	0.027;0.077;0.006;0.05;0.001;0.033;0.057	D	0.97737	1.0206	10	0.23891	T	0.37	-0.2666	4.6744	0.12705	0.1112:0.0:0.671:0.2178	.	38;77;77;77;77;77;77	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	77	ENSP00000410739:P77L;ENSP00000352610:P77L;ENSP00000269305:P77L;ENSP00000398846:P77L;ENSP00000391127:P77L;ENSP00000391478:P77L;ENSP00000424104:P77L;ENSP00000426252:P77L	ENSP00000269305:P77L	P	-	2	0	TP53	7520182	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.552000	0.23376	1.153000	0.42468	0.561000	0.74099	CCA		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	132	0	0	0	0.00245	0	15	132				
DNAH2	146754	broad.mit.edu	37	17	7662780	7662780	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:7662780G>T	ENST00000572933.1	+	16	3949	c.2489G>T	c.(2488-2490)cGc>cTc	p.R830L	DNAH2_ENST00000389173.2_Missense_Mutation_p.R830L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	830	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R830L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTGGACCGCATGATGGAG	0.527																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(2488-2490)CGC>CTC		dynein heavy chain domain 3							101.0	89.0	93.0					17																	7662780		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662780G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2489G>T	17.37:g.7662780G>T	ENSP00000458355:p.Arg830Leu						p.R830L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			15	2503	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	830			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2489G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968573	0.34754	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23552	1.9	5.37	-2.47	0.06442	.	0.635976	0.15408	N	0.263929	T	0.19005	0.0456	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14144	-1.0483	10	0.24483	T	0.36	.	12.7885	0.57520	0.3356:0.0:0.6644:0.0	.	830	Q9P225	DYH2_HUMAN	L	830	ENSP00000373825:R830L	ENSP00000353818:R830L	R	+	2	0	DNAH2	7603505	0.010000	0.17322	0.996000	0.52242	0.907000	0.53573	-0.477000	0.06583	-0.174000	0.10743	-0.678000	0.03780	CGC		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		14	55	1	0	1.02788e-11	0.00499	1.60271e-11	14	55				
CTC1	80169	broad.mit.edu	37	17	8138501	8138501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:8138501G>A	ENST00000315684.8	-	8	1316	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	437					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.Q437*(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGGCTTCTGACGAGAGAAG	0.627																																							uc002gkq.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1309-1311)CAG>TAG		alpha accessory factor 132							70.0	78.0	75.0					17																	8138501		2050	4183	6233	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138501G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1309C>T	17.37:g.8138501G>A	ENSP00000313759:p.Gln437*					C17orf68_uc010cnv.2_RNA	p.Q437*	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			8	1368	-			437					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.1309C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.490758	0.64074	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	.	.	.	5.04	5.04	0.67666	.	0.506057	0.18487	N	0.139771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.3464	13.7672	0.63002	0.0:0.0:1.0:0.0	.	.	.	.	X	437;402	.	ENSP00000313759:Q437X	Q	-	1	0	CTC1	8079226	0.412000	0.25392	0.326000	0.25389	0.209000	0.24338	4.214000	0.58527	2.629000	0.89072	0.598000	0.82781	CAG		0.627	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		13	103	0	0	0	0.001368	0	13	103				
MYH3	4621	broad.mit.edu	37	17	10545805	10545805	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:10545805A>T	ENST00000583535.1	-	16	1904	c.1817T>A	c.(1816-1818)gTg>gAg	p.V606E	MYH3_ENST00000226209.7_Missense_Mutation_p.V606E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	606	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.V606E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGCCCAACCACAGTCTCGTT	0.557																																							uc002gmq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1816-1818)GTG>GAG		myosin, heavy chain 3, skeletal muscle,							142.0	137.0	139.0					17																	10545805		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545805A>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1817T>A	17.37:g.10545805A>T	ENSP00000464317:p.Val606Glu						p.V606E	NM_002470	NP_002461	P11055	MYH3_HUMAN			15	1894	-			606			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1817T>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998130	0.54147	.	.	ENSG00000109063	ENST00000226209	D	0.88431	-2.38	4.86	4.86	0.63082	Myosin head, motor domain (2);	.	.	.	.	D	0.97040	0.9033	H	0.99487	4.59	0.54753	D	0.999988	P	0.51653	0.947	D	0.70487	0.969	D	0.98593	1.0655	9	0.87932	D	0	.	14.9043	0.70706	1.0:0.0:0.0:0.0	.	606	P11055	MYH3_HUMAN	E	606	ENSP00000226209:V606E	ENSP00000226209:V606E	V	-	2	0	MYH3	10486530	1.000000	0.71417	0.210000	0.23637	0.056000	0.15407	9.087000	0.94110	2.170000	0.68504	0.528000	0.53228	GTG		0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		6	114	0	0	0	0.001168	0	6	114				
ELAC2	60528	broad.mit.edu	37	17	12905609	12905609	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:12905609G>C	ENST00000338034.4	-	14	1525	c.1286C>G	c.(1285-1287)cCc>cGc	p.P429R	ELAC2_ENST00000426905.3_Missense_Mutation_p.P389R|ELAC2_ENST00000609345.1_5'Flank|ELAC2_ENST00000395962.2_Missense_Mutation_p.P410R	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	429					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P429R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTCCCTCCTGGGACGGAGCTG	0.493																																							uc002gnz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1285-1287)CCC>CGC		elaC homolog 2 isoform 1							75.0	72.0	73.0					17																	12905609		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905609G>C	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1286C>G	17.37:g.12905609G>C	ENSP00000337445:p.Pro429Arg					ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.P57R|ELAC2_uc002gnw.3_Missense_Mutation_p.P87R|ELAC2_uc002gnx.3_Missense_Mutation_p.P189R|ELAC2_uc010vvo.1_Missense_Mutation_p.P227R|ELAC2_uc010vvp.1_Missense_Mutation_p.P410R|ELAC2_uc010vvq.1_Missense_Mutation_p.P428R|ELAC2_uc010vvr.1_Missense_Mutation_p.P389R	p.P429R	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			14	1381	-			429					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1286C>G	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655169	0.47467	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.70399	-0.02;-0.48;-0.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.996;0.984;0.997;0.977;0.996;0.996;1.0;0.999	D	0.86348	0.1709	10	0.45353	T	0.12	-28.2505	17.5547	0.87887	0.0:0.0:1.0:0.0	.	389;412;410;227;429;189;414;57	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	R	389;429;410;107	ENSP00000405223:P389R;ENSP00000337445:P429R;ENSP00000379291:P410R	ENSP00000337445:P429R	P	-	2	0	ELAC2	12846334	1.000000	0.71417	0.813000	0.32504	0.992000	0.81027	9.220000	0.95180	2.755000	0.94549	0.655000	0.94253	CCC		0.493	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			5	58	0	0	0	0.001984	0	5	58				
CCDC144A	9720	broad.mit.edu	37	17	16612677	16612677	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:16612677G>C	ENST00000360524.8	+	5	1382	c.1306G>C	c.(1306-1308)Gtt>Ctt	p.V436L	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V436L|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.V436L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V435L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V436L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	436								p.V436L(1)									CCCAGAAGTGGTTATGGTTGA	0.353																																							uc002gqk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)GTT>CTT		coiled-coil domain containing 144A							63.0	52.0	55.0					17																	16612677		1808	4058	5866	SO:0001583	missense	9720							g.chr17:16612677G>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1306G>C	17.37:g.16612677G>C	ENSP00000353717:p.Val436Leu					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.V436L	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	1382	+			436					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1306G>C	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.537596	0.27475	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	1.26	0.192	0.15134	.	.	.	.	.	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	0.999996	B	0.14438	0.01	B	0.11329	0.006	T	0.31916	-0.9926	8	.	.	.	.	5.1692	0.15101	0.2409:0.0:0.7591:0.0	.	436	A2RUR9	C144A_HUMAN	L	435;436;436;436;436;436	ENSP00000344740:V435L;ENSP00000382215:V436L;ENSP00000439262:V436L;ENSP00000440655:V436L;ENSP00000353717:V436L;ENSP00000353685:V436L	.	V	+	1	0	CCDC144A	16553402	0.000000	0.05858	0.389000	0.26208	0.042000	0.13812	0.015000	0.13355	0.675000	0.31264	0.175000	0.17021	GTT		0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			4	53	0	0	0	0.000602	0	4	53				
CCDC144A	9720	broad.mit.edu	37	17	16612733	16612733	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:16612733G>C	ENST00000360524.8	+	5	1438	c.1362G>C	c.(1360-1362)atG>atC	p.M454I	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.M454I|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.M454I|CCDC144A_ENST00000340621.5_Missense_Mutation_p.M453I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.M454I	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	454								p.M454I(1)									CAAAAAATATGAACCAAAATA	0.353																																							uc002gqk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1360-1362)ATG>ATC		coiled-coil domain containing 144A							48.0	42.0	44.0					17																	16612733		1792	4045	5837	SO:0001583	missense	9720							g.chr17:16612733G>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1362G>C	17.37:g.16612733G>C	ENSP00000353717:p.Met454Ile					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.M454I	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	1438	+			454					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1362G>C	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309845	0.23821	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	1.26	1.26	0.21427	.	.	.	.	.	T	0.11110	0.0271	N	0.22421	0.69	0.20074	N	0.999939	B	0.27765	0.188	B	0.17098	0.017	T	0.29212	-1.0019	8	.	.	.	.	5.8753	0.18826	0.0:0.0:1.0:0.0	.	454	A2RUR9	C144A_HUMAN	I	453;454;454;454;454;454	ENSP00000344740:M453I;ENSP00000382215:M454I;ENSP00000439262:M454I;ENSP00000440655:M454I;ENSP00000353717:M454I;ENSP00000353685:M454I	.	M	+	3	0	CCDC144A	16553458	0.000000	0.05858	0.431000	0.26735	0.314000	0.28054	-0.032000	0.12266	0.675000	0.31264	0.175000	0.17021	ATG		0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			10	67	0	0	0	0.008291	0	10	67				
SLC5A10	125206	broad.mit.edu	37	17	18922736	18922736	+	Splice_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:18922736G>T	ENST00000395645.3	+	12	1260	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R	SLC5A10_ENST00000395643.2_Splice_Site_p.R387R|SLC5A10_ENST00000395642.1_Splice_Site_p.W384C|SLC5A10_ENST00000417251.2_Splice_Site_p.R378R|SLC5A10_ENST00000317977.6_Splice_Site_p.W384C|SLC5A10_ENST00000395647.2_Splice_Site_p.R430R	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	414					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R430R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCGCCTGCAGGCTGGTCATAG	0.592																																							uc002guu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)CGG>CGT		solute carrier family 5 (sodium/glucose							48.0	41.0	43.0					17																	18922736		2203	4300	6503	SO:0001630	splice_region_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18922736G>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1242-1G>T	17.37:g.18922736G>T						SLC5A10_uc002gur.1_Missense_Mutation_p.W384C|SLC5A10_uc002gut.1_Silent_p.R430R|SLC5A10_uc002guv.1_Silent_p.R387R|SLC5A10_uc010vyl.1_Silent_p.R378R|SLC5A10_uc002gux.1_RNA	p.R414R	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN			12	1283	+			414			Helical; (Potential).		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1242G>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094162	0.36952	.	.	ENSG00000154025	ENST00000317977;ENST00000395642	D;D	0.90732	-2.72;-2.72	4.37	4.37	0.52481	.	.	.	.	.	D	0.93080	0.7797	.	.	.	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.93033	0.6450	7	.	.	.	.	15.8312	0.78752	0.0:0.0:1.0:0.0	.	384	A0PJK1-3	.	C	384	ENSP00000324346:W384C;ENSP00000379004:W384C	.	W	+	3	0	SLC5A10	18863461	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	6.081000	0.71309	2.131000	0.65755	0.462000	0.41574	TGG		0.592	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	Silent	4	14	1	0	5.9392e-07	0.001168	8.08074e-07	4	14				
KSR1	8844	broad.mit.edu	37	17	25924462	25924462	+	Splice_Site	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:25924462G>A	ENST00000319524.6	+	10	1468	c.1468G>A	c.(1468-1470)Gct>Act	p.A490T	KSR1_ENST00000398988.3_Splice_Site_p.A353T|KSR1_ENST00000509603.2_Splice_Site_p.A490T|KSR1_ENST00000268763.6_Splice_Site_p.A353T|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	490					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)	p.A490T(2)		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)		CAACTTCCCAGGTACCACATC	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(1)	4						c.(1057-1059)GCT>ACT		kinase suppressor of ras							38.0	46.0	43.0					17																	25924462		2002	4156	6158	SO:0001630	splice_region_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25924462G>A	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.1468+1G>A	17.37:g.25924462G>A						KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Missense_Mutation_p.A154T	p.A353T	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	10	1502	+	Lung NSC(42;0.00836)		488					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1057G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.435372|4.435372	0.83885|0.83885	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.80566|.	-1.39;-1.38;-1.37|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.515884|.	0.21926|.	N|.	0.067083|.	T|T	0.76779|0.76779	0.4035|0.4035	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.41848|.	0.546;0.763|.	B;B|.	0.39258|.	0.186;0.295|.	T|T	0.78066|0.78066	-0.2349|-0.2349	10|5	0.27082|.	T|.	0.32|.	.|.	17.3126|17.3126	0.87213|0.87213	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	488;490|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	T|N	490;490;353;353|225	ENSP00000323178:A490T;ENSP00000438795:A490T;ENSP00000268763:A353T|.	ENSP00000268763:A353T|.	A|S	+|+	1|2	0|0	KSR1|KSR1	22948589|22948589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.675000|9.675000	0.98638|0.98638	2.392000|2.392000	0.81423|0.81423	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238	Missense_Mutation	3	13	0	0	0	0.004672	0	3	13				
NOS2	4843	broad.mit.edu	37	17	26087144	26087144	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:26087144A>C	ENST00000313735.6	-	25	3304	c.3071T>G	c.(3070-3072)aTc>aGc	p.I1024S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1024					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.I1024S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTCCTGGTAGATGTGGTCCTC	0.627											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002gzu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(3070-3072)ATC>AGC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						64.0	64.0	64.0					17																	26087144		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26087144A>C	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3071T>G	17.37:g.26087144A>C	ENSP00000327251:p.Ile1024Ser		OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	784		p.I1024S	NM_000625	NP_000616	P35228	NOS2_HUMAN			25	3335	-			1024					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.3071T>G	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368073	0.82463	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.87412	-2.25	4.79	4.79	0.61399	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.269444	0.30311	N	0.009917	D	0.93350	0.7880	M	0.91972	3.26	0.40375	D	0.979381	P	0.50066	0.931	P	0.56823	0.807	D	0.94970	0.8116	10	0.87932	D	0	.	13.5005	0.61452	1.0:0.0:0.0:0.0	.	1024	P35228	NOS2_HUMAN	S	1024;985	ENSP00000327251:I1024S	ENSP00000327251:I1024S	I	-	2	0	NOS2	23111271	1.000000	0.71417	0.899000	0.35326	0.778000	0.44026	9.321000	0.96353	1.792000	0.52537	0.379000	0.24179	ATC		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	67	0	0	0	0.000602	0	5	67				
EFCAB5	374786	broad.mit.edu	37	17	28417673	28417673	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:28417673A>G	ENST00000394835.3	+	20	4110	c.3918A>G	c.(3916-3918)atA>atG	p.I1306M	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I1182M	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1306							calcium ion binding (GO:0005509)	p.K1308fs*4(1)|p.I1306M(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGGAGAGATAAAGAAAAAAT	0.368																																							uc002het.2		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|breast(1)	ovary(1)|skin(1)	2						c.(3916-3918)ATA>ATG		EF-hand calcium binding domain 5 isoform a							113.0	114.0	114.0					17																	28417673		1826	4086	5912	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417673A>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3918A>G	17.37:g.28417673A>G	ENSP00000378312:p.Ile1306Met					EFCAB5_uc010cse.2_Missense_Mutation_p.I1061M|EFCAB5_uc010csf.2_Intron	p.I1306M	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			20	4110	+			1306					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3918A>G	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	3.601	-0.081595	0.07141	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10668	2.85;2.88;2.88	5.35	2.98	0.34508	.	0.229536	0.37304	N	0.002158	T	0.17365	0.0417	M	0.63428	1.95	0.09310	N	1	P;P	0.47253	0.731;0.892	B;P	0.47251	0.444;0.542	T	0.04454	-1.0950	10	0.45353	T	0.12	-6.2096	13.378	0.60750	0.4785:0.5215:0.0:0.0	.	1182;1306	E7EVS9;A4FU69	.;EFCB5_HUMAN	M	1306;1182;988	ENSP00000378312:I1306M;ENSP00000322003:I1182M;ENSP00000417009:I988M	ENSP00000322003:I1182M	I	+	3	3	EFCAB5	25441799	0.033000	0.19621	0.042000	0.18584	0.234000	0.25298	0.759000	0.26461	0.840000	0.34995	0.533000	0.62120	ATA		0.368	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		25	142	0	0	0	0.004656	0	25	142				
ASIC2	40	broad.mit.edu	37	17	31439050	31439050	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:31439050G>T	ENST00000359872.6	-	2	1352	c.591C>A	c.(589-591)aaC>aaA	p.N197K	ASIC2_ENST00000225823.2_Missense_Mutation_p.N248K|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	197					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.N248K(1)|p.N197K(1)								Amiloride(DB00594)	CCTCGCCTGAGTTAAACATGT	0.517																																							uc002hhu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(589-591)AAC>AAA		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						110.0	90.0	97.0					17																	31439050		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439050G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.591C>A	17.37:g.31439050G>T	ENSP00000352934:p.Asn197Lys					ACCN1_uc002hht.2_Missense_Mutation_p.N248K	p.N197K	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	2	865	-		Breast(31;0.042)|Ovarian(249;0.202)	197			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.591C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240286	0.79912	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.80566	-1.39;-1.39	5.09	4.12	0.48240	.	0.107611	0.64402	D	0.000006	D	0.88437	0.6436	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.98;0.997	D	0.88689	0.3207	10	0.87932	D	0	-2.6913	6.8753	0.24143	0.1909:0.0:0.8091:0.0	.	197;248	Q16515;E9PBX2	ACCN1_HUMAN;.	K	248;197;3	ENSP00000225823:N248K;ENSP00000352934:N197K	ENSP00000225823:N248K	N	-	3	2	ACCN1	28463163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.562000	0.53777	1.920000	0.55613	0.454000	0.30748	AAC		0.517	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	27	1	0	0.00198382	0.001984	0.0022822	7	27				
SLFN12	55106	broad.mit.edu	37	17	33749524	33749524	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:33749524T>C	ENST00000394562.1	-	4	1047	c.524A>G	c.(523-525)aAt>aGt	p.N175S	SLFN12_ENST00000304905.5_Missense_Mutation_p.N175S|SLFN12_ENST00000452764.3_Missense_Mutation_p.N175S|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	175							ATP binding (GO:0005524)	p.N175S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCATGTTATTTTCTTCTTG	0.383																																							uc002hji.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)AAT>AGT		schlafen family member 12							63.0	67.0	65.0					17																	33749524		2190	4290	6480	SO:0001583	missense	55106						ATP binding	g.chr17:33749524T>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.524A>G	17.37:g.33749524T>C	ENSP00000378063:p.Asn175Ser					SLFN12_uc002hjj.3_Missense_Mutation_p.N175S|SLFN12_uc010cts.2_Missense_Mutation_p.N175S	p.N175S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	901	-		Ovarian(249;0.17)	175					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.524A>G	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	t	0.816	-0.750391	0.03041	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03580	3.88;3.88;3.88	3.08	-4.55	0.03441	.	.	.	.	.	T	0.00724	0.0024	N	0.00128	-2.045	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47959	-0.9076	9	0.17832	T	0.49	.	3.5598	0.07878	0.2397:0.2473:0.0:0.513	.	175	Q8IYM2	SLN12_HUMAN	S	175	ENSP00000378063:N175S;ENSP00000302077:N175S;ENSP00000394903:N175S	ENSP00000302077:N175S	N	-	2	0	SLFN12	30773637	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-0.368000	0.07543	-0.772000	0.04602	-0.545000	0.04230	AAT		0.383	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		6	97	0	0	0	0.001168	0	6	97				
KRT37	8688	broad.mit.edu	37	17	39580631	39580631	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:39580631C>G	ENST00000225550.3	-	1	144	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	49	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.V49L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCGTGTGCCACGTTGGCCAAG	0.617																																							uc002hwp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)GTG>CTG		keratin 37							49.0	50.0	50.0					17																	39580631		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580631C>G	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.145G>C	17.37:g.39580631C>G	ENSP00000225550:p.Val49Leu					uc002hwo.1_RNA	p.V49L	NM_003770	NP_003761	O76014	KRT37_HUMAN			1	192	-		Breast(137;0.000496)	49			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.145G>C	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	2.271	-0.367005	0.05069	.	.	ENSG00000108417	ENST00000225550	D	0.81659	-1.52	4.0	-8.0	0.01126	.	1.431580	0.04792	N	0.431921	T	0.43344	0.1243	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50432	-0.8829	10	0.02654	T	1	.	3.0183	0.06067	0.151:0.1439:0.4811:0.224	.	49	O76014	KRT37_HUMAN	L	49	ENSP00000225550:V49L	ENSP00000225550:V49L	V	-	1	0	KRT37	36834157	0.000000	0.05858	0.005000	0.12908	0.084000	0.17831	-2.459000	0.01000	-1.561000	0.01684	-0.165000	0.13383	GTG		0.617	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		12	63	0	0	0	0.001855	0	12	63				
KRT36	8689	broad.mit.edu	37	17	39644973	39644973	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:39644973G>A	ENST00000328119.6	-	2	462	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	KRT36_ENST00000393986.2_Silent_p.L105L	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	155	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.L155L(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TTAGTCAGCAGGATCTGGGGA	0.572																																							uc002hwt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTG>TTG		keratin 36							108.0	101.0	103.0					17																	39644973		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644973G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.463C>T	17.37:g.39644973G>A							p.L155L	NM_003771	NP_003762	O76013	KRT36_HUMAN			2	463	-		Breast(137;0.000286)	155			Rod.|Coil 1B.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.463C>T	CCDS11395.1																																																																																				0.572	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		7	103	0	0	0	0.001984	0	7	103				
WNK4	65266	broad.mit.edu	37	17	40939540	40939540	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:40939540C>G	ENST00000246914.5	+	7	1742	c.1721C>G	c.(1720-1722)gCc>gGc	p.A574G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	574					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.A562G(1)|p.A574G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGCCACGCCAGCTACTCA	0.622																																					Esophageal Squamous(6;201 374 4964 23855 42828)	Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|stomach(1)	7						c.(1720-1722)GCC>GGC		WNK lysine deficient protein kinase 4							164.0	171.0	169.0					17																	40939540		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939540C>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1721C>G	17.37:g.40939540C>G	ENSP00000246914:p.Ala574Gly					WNK4_uc010wgx.1_Missense_Mutation_p.A238G|WNK4_uc002ibk.1_Missense_Mutation_p.A346G|WNK4_uc010wgy.1_5'UTR	p.A574G	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1742	+		Breast(137;0.000143)	574					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1721C>G	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784982	0.49997	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.72394	-0.65	4.98	4.98	0.66077	.	0.000000	0.46758	D	0.000275	T	0.66046	0.2750	L	0.40543	1.245	0.35668	D	0.813114	P;B;B	0.46142	0.873;0.231;0.435	B;B;B	0.43251	0.413;0.107;0.15	T	0.76966	-0.2763	10	0.59425	D	0.04	-9.8058	15.7398	0.77882	0.0:1.0:0.0:0.0	.	574;574;574	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	G	574;346	ENSP00000246914:A574G	ENSP00000246914:A574G	A	+	2	0	WNK4	38193066	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.681000	0.68175	2.311000	0.77944	0.455000	0.32223	GCC		0.622	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			18	142	0	0	0	0.008871	0	18	142				
G6PC3	92579	broad.mit.edu	37	17	42153250	42153250	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:42153250C>A	ENST00000269097.4	+	6	1111	c.880C>A	c.(880-882)Ctg>Atg	p.L294M		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	294					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)	p.L294M(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CATGGGGCTGCTGGGCCCCCT	0.612																																							uc002iex.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(880-882)CTG>ATG		glucose-6-phosphatase catalytic subunit 3							68.0	66.0	67.0					17																	42153250		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153250C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.880C>A	17.37:g.42153250C>A	ENSP00000269097:p.Leu294Met					G6PC3_uc002iey.2_Missense_Mutation_p.L169M|G6PC3_uc010czo.2_Missense_Mutation_p.L150M|G6PC3_uc002iez.2_Missense_Mutation_p.L169M|G6PC3_uc002ifb.2_Missense_Mutation_p.L169M|G6PC3_uc002ifc.2_Missense_Mutation_p.L103M	p.L294M	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1096	+		Breast(137;0.00637)|Prostate(33;0.0313)	294			Helical; (Potential).		Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.880C>A	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106334	0.37145	.	.	ENSG00000141349	ENST00000269097	D	0.83992	-1.79	5.18	0.805	0.18703	.	0.402041	0.22027	N	0.065642	D	0.87010	0.6071	M	0.61703	1.905	0.36015	D	0.838313	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.59425	D	0.04	-6.2498	8.2206	0.31539	0.0:0.6285:0.0:0.3715	.	294	Q9BUM1	G6PC3_HUMAN	M	294	ENSP00000269097:L294M	ENSP00000269097:L294M	L	+	1	2	G6PC3	39508776	1.000000	0.71417	0.843000	0.33291	0.309000	0.27889	2.197000	0.42696	0.369000	0.24510	-0.136000	0.14681	CTG		0.612	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		10	65	1	0	6.40141e-05	0.000978	7.91091e-05	10	65				
ITGB3	3690	broad.mit.edu	37	17	45363775	45363775	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:45363775C>A	ENST00000559488.1	+	5	780	c.764C>A	c.(763-765)gCt>gAt	p.A255D	ITGB3_ENST00000571680.1_Missense_Mutation_p.A255D|ITGB3_ENST00000560629.1_Silent_p.G243G|ITGB3_ENST00000435993.2_Missense_Mutation_p.A208D	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	255	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.A255D(1)|p.A208D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	aTCATGCAGGCTACAGTCTGT	0.522																																							uc002ilj.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(763-765)GCT>GAT		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						94.0	79.0	84.0					17																	45363775		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45363775C>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.764C>A	17.37:g.45363775C>A	ENSP00000452786:p.Ala255Asp					ITGB3_uc002ili.1_Missense_Mutation_p.A255D|ITGB3_uc010wkr.1_RNA	p.A255D	NM_000212	NP_000203	P05106	ITB3_HUMAN			5	784	+			255			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.764C>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933015	0.92458	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.94000	-3.33	5.01	5.01	0.66863	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.047680	0.85682	D	0.000000	D	0.97595	0.9212	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.985	D	0.98664	1.0685	10	0.87932	D	0	.	17.4372	0.87555	0.0:1.0:0.0:0.0	.	255;255	P05106;Q2YFE1	ITB3_HUMAN;.	D	255;208	ENSP00000407801:A208D	ENSP00000262017:A255D	A	+	2	0	C17orf57	42718774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.480000	0.83734	0.561000	0.74099	GCT		0.522	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		12	54	1	0	2.80697e-09	0.000978	4.10529e-09	12	54				
TEX14	56155	broad.mit.edu	37	17	56650541	56650541	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:56650541C>G	ENST00000240361.8	-	24	3735		c.e24+1		TEX14_ENST00000349033.5_Splice_Site|TEX14_ENST00000389934.3_Splice_Site			Q8IWB6	TEX14_HUMAN	testis expressed 14						attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.?(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGTGATTACCTGGGCTGAG	0.502																																							uc010dcz.1		NA																	2	Unknown(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.e24+1		testis expressed sequence 14 isoform a							218.0	200.0	206.0					17																	56650541		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56650541C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3649+1G>C	17.37:g.56650541C>G						TEX14_uc002iwr.1_Splice_Site_p.G1211_splice|TEX14_uc002iws.1_Splice_Site_p.G1171_splice|TEX14_uc010dda.1_Splice_Site_p.G951_splice	p.G1217_splice	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			24	3767	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.3649_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132009	0.56828	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.64	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3983	0.44214	0.0:0.9102:0.0:0.0898	.	.	.	.	.	-1	.	.	.	-	.	.	TEX14	54005540	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.937000	0.48979	1.400000	0.46741	0.555000	0.69702	.		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Intron	15	155	0	0	0	0.00245	0	15	155				
RNF157	114804	broad.mit.edu	37	17	74150404	74150404	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:74150404A>G	ENST00000269391.6	-	17	1902	c.1770T>C	c.(1768-1770)aaT>aaC	p.N590N	RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157_ENST00000319945.6_Silent_p.N568N	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	590							zinc ion binding (GO:0008270)	p.N1193N(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTATAACATCATTTCCCTAGG	0.423																																					GBM(186;507 2120 27388 27773 52994)	GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1768-1770)AAT>AAC		ring finger protein 157							167.0	153.0	158.0					17																	74150404		2203	4300	6503	SO:0001819	synonymous_variant	114804						zinc ion binding	g.chr17:74150404A>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1770T>C	17.37:g.74150404A>G						RNF157_uc002jra.2_Silent_p.N568N|uc002jrb.1_5'Flank	p.N590N	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		17	1839	-			590					Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	c.1770T>C	CCDS32740.1																																																																																				0.423	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		28	156	0	0	0	0.007291	0	28	156				
CARD14	79092	broad.mit.edu	37	17	78175572	78175572	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:78175572C>G	ENST00000573882.1	+	16	2417	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000570421.1_Missense_Mutation_p.F627L|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.F627L|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000572730.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	627	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.F627L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCCCTTGTTCAAGGCAGTCC	0.592																																							uc002jxw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1879-1881)TTC>TTG		caspase recruitment domain protein 14 isoform 1							103.0	85.0	91.0					17																	78175572		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78175572C>G	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1881C>G	17.37:g.78175572C>G	ENSP00000458715:p.Phe627Leu					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.F627L|CARD14_uc010wud.1_Intron	p.F627L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		14	2076	+	all_neural(118;0.0952)		627	DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).		PDZ.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1881C>G	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507116	0.44558	.	.	ENSG00000141527	ENST00000344227	T	0.25912	1.77	4.56	2.47	0.30058	PDZ/DHR/GLGF (3);	0.670270	0.15598	N	0.254077	T	0.11965	0.0291	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12682	-1.0538	10	0.11485	T	0.65	-7.4706	8.0669	0.30665	0.1582:0.7549:0.0:0.087	.	627	Q9BXL6	CAR14_HUMAN	L	627	ENSP00000344549:F627L	ENSP00000344549:F627L	F	+	3	2	CARD14	75790167	0.701000	0.27806	0.797000	0.32132	0.919000	0.55068	0.917000	0.28665	0.423000	0.26033	0.650000	0.86243	TTC		0.592	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			5	74	0	0	0	0.00308	0	5	74				
RNF213	57674	broad.mit.edu	37	17	78280178	78280178	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:78280178G>T	ENST00000582970.1	+	12	2480	c.2337G>T	c.(2335-2337)gaG>gaT	p.E779D	RNF213_ENST00000456466.1_Missense_Mutation_p.E779D|RNF213_ENST00000508628.2_Missense_Mutation_p.E828D|RNF213_ENST00000319921.4_Missense_Mutation_p.E779D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	779					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E779D(2)|p.E828D(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTTCATTGAGCACCTGGGTC	0.483																																							uc002jyf.2		NA																	3	Substitution - Missense(3)		lung(3)		NA						c.(2335-2337)GAG>GAT		hypothetical protein LOC57714							140.0	126.0	131.0					17																	78280178		2203	4300	6503	SO:0001583	missense	0							g.chr17:78280178G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2337G>T	17.37:g.78280178G>T	ENSP00000464087:p.Glu779Asp					uc002jyg.1_Missense_Mutation_p.E510D	p.E779D	NM_020954	NP_066005					12	2480	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2337G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	8.659	0.900079	0.17686	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	5.25	-10.5	0.00291	.	0.339167	0.21987	N	0.066214	T	0.09730	0.0239	N	0.05124	-0.11	0.22253	N	0.999257	B;B	0.20671	0.047;0.047	B;B	0.23275	0.045;0.02	T	0.13361	-1.0512	9	0.14252	T	0.57	-19.9962	4.1594	0.10277	0.1061:0.2619:0.4008:0.2312	.	779;779	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	D	779;828;779;779	.	ENSP00000324392:E779D	E	+	3	2	RNF213	75894773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.966000	0.00324	-3.503000	0.00151	-0.312000	0.09012	GAG		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	77	1	0	2.27731e-05	0.001882	2.90305e-05	21	77				
EPB41L3	23136	broad.mit.edu	37	18	5395092	5395092	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:5395092C>A	ENST00000341928.2	-	21	3467	c.3127G>T	c.(3127-3129)Ggg>Tgg	p.G1043W	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G821W|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G348W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G874W|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G340W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G821W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1043W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1043	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G1043W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTGCATCCCCCGTGATGACT	0.448																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3127-3129)GGG>TGG		erythrocyte membrane protein band 4.1-like 3							152.0	130.0	138.0					18																	5395092		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395092C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3127G>T	18.37:g.5395092C>A	ENSP00000343158:p.Gly1043Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.G874W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G821W|EPB41L3_uc010dkq.1_Missense_Mutation_p.G712W|EPB41L3_uc002kms.1_Missense_Mutation_p.G278W|EPB41L3_uc010wze.1_Missense_Mutation_p.G348W|EPB41L3_uc010wzf.1_Missense_Mutation_p.G340W|EPB41L3_uc010wzg.1_Missense_Mutation_p.G315W|EPB41L3_uc010dkr.2_Missense_Mutation_p.G435W	p.G1043W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			21	3213	-			1043			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3127G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053309	0.93793	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.89095	3.005	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.95657	0.8712	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	874;340;348;435;712;821;1043;278	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	W	1043;712;874;712;340;348;1043;821	ENSP00000343158:G1043W;ENSP00000441174:G874W;ENSP00000392195:G340W;ENSP00000442233:G348W;ENSP00000341138:G1043W;ENSP00000382981:G821W	ENSP00000343158:G1043W	G	-	1	0	EPB41L3	5385092	1.000000	0.71417	0.969000	0.41365	0.946000	0.59487	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GGG		0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		20	94	1	0	1.28384e-07	0.001882	1.78101e-07	20	94				
EPB41L3	23136	broad.mit.edu	37	18	5443878	5443878	+	Splice_Site	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:5443878T>C	ENST00000341928.2	-	5	828	c.488A>G	c.(487-489)aAt>aGt	p.N163S	EPB41L3_ENST00000540638.2_Splice_Site_p.N163S|EPB41L3_ENST00000544123.1_Splice_Site_p.N163S|EPB41L3_ENST00000400111.3_Splice_Site_p.N163S|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.N163S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.N163S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTCCAACCAATTCTGAAAAGG	0.353																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(487-489)AAT>AGT		erythrocyte membrane protein band 4.1-like 3							91.0	93.0	92.0					18																	5443878		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5443878T>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.487-1A>G	18.37:g.5443878T>C						EPB41L3_uc010wzh.1_Missense_Mutation_p.N163S|EPB41L3_uc002kmu.1_Missense_Mutation_p.N163S|EPB41L3_uc010dkq.1_Missense_Mutation_p.N54S|EPB41L3_uc010dks.1_Missense_Mutation_p.N185S|EPB41L3_uc002kmv.1_Missense_Mutation_p.N54S	p.N163S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			5	574	-			163			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.488A>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832260	0.71258	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	5.59	0.84812	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	L	0.39633	1.23	0.80722	D	1	D;P;D;D;P	0.71674	0.998;0.662;0.997;0.996;0.729	D;B;P;P;P	0.72075	0.976;0.162;0.792;0.753;0.562	D	0.84918	0.0852	10	0.62326	D	0.03	.	15.7768	0.78228	0.0:0.0:0.0:1.0	.	163;163;54;163;163	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	S	163;54;163;54;163;163;244	ENSP00000343158:N163S;ENSP00000441174:N163S;ENSP00000341138:N163S;ENSP00000382981:N163S	ENSP00000343158:N163S	N	-	2	0	EPB41L3	5433878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.873000	0.56093	2.120000	0.65058	0.528000	0.53228	AAT		0.353	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Missense_Mutation	6	106	0	0	0	0.001984	0	6	106				
SLC14A2	8170	broad.mit.edu	37	18	43249369	43249369	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:43249369C>G	ENST00000255226.6	+	16	2951	c.2135C>G	c.(2134-2136)gCc>gGc	p.A712G	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A712G|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A189G|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	712					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.A712G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACCTGGCAGCCACGGGCCAC	0.572																																							uc010dnj.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2134-2136)GCC>GGC		solute carrier family 14 (urea transporter),							192.0	173.0	179.0					18																	43249369		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43249369C>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2135C>G	18.37:g.43249369C>G	ENSP00000255226:p.Ala712Gly					SLC14A2_uc002lbe.2_Missense_Mutation_p.A712G	p.A712G	NM_007163	NP_009094	Q15849	UT2_HUMAN			17	2456	+			712			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2135C>G	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670680	0.67814	.	.	ENSG00000132874	ENST00000255226	T	0.54479	0.57	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000040	T	0.69967	0.3170	M	0.72479	2.2	0.80722	D	1	P	0.46277	0.875	P	0.56916	0.809	T	0.67791	-0.5579	10	0.45353	T	0.12	-31.1601	19.9857	0.97347	0.0:1.0:0.0:0.0	.	712	Q15849	UT2_HUMAN	G	712	ENSP00000255226:A712G	ENSP00000255226:A712G	A	+	2	0	SLC14A2	41503367	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.175000	0.77632	2.706000	0.92434	0.655000	0.94253	GCC		0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			25	114	0	0	0	0.004656	0	25	114				
SERPINB4	6318	broad.mit.edu	37	18	61305132	61305132	+	Missense_Mutation	SNP	C	C	A	rs144633926	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:61305132C>A	ENST00000341074.5	-	8	1109	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A280S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	332					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A332S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCCACAAAGGCCTTGTGTAGG	0.493																																							uc002ljf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(994-996)GCC>TCC		serine (or cysteine) proteinase inhibitor, clade							121.0	114.0	116.0					18																	61305132		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305132C>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.994G>T	18.37:g.61305132C>A	ENSP00000343445:p.Ala332Ser					SERPINB4_uc002lje.2_Missense_Mutation_p.A311S|SERPINB4_uc002ljg.2_Missense_Mutation_p.A332S	p.A332S	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1080	-			332					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.994G>T	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.008|0.008	-1.865294|-1.865294	0.00547|0.00547	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424|ENST00000413673	D;D|.	0.86694|.	-2.16;-2.16|.	4.51|4.51	0.51|0.51	0.16983|0.16983	Serpin domain (3);|.	0.636724|.	0.12998|.	N|.	0.421882|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.03115|0.03115	-0.41|-0.41	0.23758|0.23758	N|N	0.996926|0.996926	B;B;B|.	0.15141|.	0.002;0.001;0.012|.	B;B;B|.	0.14023|.	0.01;0.01;0.009|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.02654|.	T|.	1|.	.|.	13.4035|13.4035	0.60898|0.60898	0.4306:0.5694:0.0:0.0|0.4306:0.5694:0.0:0.0	.|.	332;332;311|.	Q5K684;P48594;Q9BYF7|.	.;SPB4_HUMAN;.|.	S|S	332;280|312	ENSP00000343445:A332S;ENSP00000348795:A280S|.	ENSP00000343445:A332S|.	A|R	-|-	1|3	0|2	SERPINB4|SERPINB4	59456112|59456112	0.340000|0.340000	0.24792|0.24792	0.989000|0.989000	0.46669|0.46669	0.027000|0.027000	0.11550|0.11550	0.602000|0.602000	0.24134|0.24134	0.002000|0.002000	0.14630|0.14630	-1.263000|-1.263000	0.01449|0.01449	GCC|AGG		0.493	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		7	138	1	0	2.0095e-06	0.001984	2.68883e-06	7	138				
CCDC102B	79839	broad.mit.edu	37	18	66721318	66721318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:66721318G>T	ENST00000360242.5	+	8	1603	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.E496*	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	496								p.E496*(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCTGGATGAAGAGAAAGAAAG	0.368																																							uc002lkk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1486-1488)GAG>TAG		coiled-coil domain containing 102B							80.0	79.0	79.0					18																	66721318		2203	4300	6503	SO:0001587	stop_gained	79839							g.chr18:66721318G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1486G>T	18.37:g.66721318G>T	ENSP00000353377:p.Glu496*					CCDC102B_uc002lki.2_Nonsense_Mutation_p.E496*	p.E496*	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			10	1709	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	496			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Nonsense_Mutation	SNP	ENST00000360242.5	37	c.1486G>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261562	0.59431	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	.	.	.	5.05	3.25	0.37280	.	0.550760	0.13366	U	0.393264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.7511	7.0417	0.25023	0.0:0.7268:0.1779:0.0954	.	.	.	.	X	496	.	ENSP00000316237:E496X	E	+	1	0	CCDC102B	64872298	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	1.476000	0.35420	0.553000	0.29044	-0.600000	0.04104	GAG		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		15	104	1	0	6.72482e-11	0.003163	1.0315e-10	15	104				
ZNF516	9658	broad.mit.edu	37	18	74154561	74154561	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:74154561T>G	ENST00000443185.2	-	3	767	c.450A>C	c.(448-450)agA>agC	p.R150S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R150S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGCAGGACTCTGCCGCTGT	0.716																																							uc010dqx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)AGA>AGC		zinc finger protein 516							8.0	10.0	9.0					18																	74154561		1812	3982	5794	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154561T>G	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.450A>C	18.37:g.74154561T>G	ENSP00000394757:p.Arg150Ser					ZNF516_uc002lme.2_RNA	p.R150S	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	685	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	150						Missense_Mutation	SNP	ENST00000443185.2	37	c.450A>C		.	.	.	.	.	.	.	.	.	.	T	8.940	0.965672	0.18583	.	.	ENSG00000101493	ENST00000443185	T	0.09538	2.97	4.64	1.88	0.25563	.	5.328150	0.01216	N	0.007967	T	0.10680	0.0261	.	.	.	0.20196	N	0.999923	B	0.20261	0.043	B	0.14023	0.01	T	0.32561	-0.9902	9	0.56958	D	0.05	-4.651	9.1982	0.37242	0.0:0.7558:0.0:0.2442	.	150	Q92618	ZN516_HUMAN	S	150	ENSP00000394757:R150S	ENSP00000394757:R150S	R	-	3	2	ZNF516	72283549	0.998000	0.40836	0.234000	0.24042	0.135000	0.20990	1.249000	0.32839	0.680000	0.31366	-0.146000	0.13790	AGA		0.716	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	17	0	0	0	0.000248	0	4	17				
CTDP1	9150	broad.mit.edu	37	18	77455261	77455261	+	Silent	SNP	G	G	T	rs139441883		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:77455261G>T	ENST00000299543.7	+	2	498	c.351G>T	c.(349-351)ccG>ccT	p.P117P	CTDP1_ENST00000075430.7_Silent_p.P117P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	117					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.P117P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCAGCCACCCGGTTGTCATGA	0.522																																							uc002lnh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)CCG>CCT		CTD (carboxy-terminal domain, RNA polymerase II,							131.0	113.0	119.0					18																	77455261		2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77455261G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.351G>T	18.37:g.77455261G>T						CTDP1_uc002lni.1_Silent_p.P117P|CTDP1_uc010drd.1_Silent_p.P117P	p.P117P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	2	498	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	117					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.351G>T	CCDS12017.1																																																																																				0.522	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		12	71	1	0	2.80697e-09	0.000978	4.10529e-09	12	71				
STK11	6794	broad.mit.edu	37	19	1207120	1207120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:1207120G>T	ENST00000326873.7	+	1	1381	c.208G>T	c.(208-210)Gag>Tag	p.E70*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.E70*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGACTCGGAGACGCTGTG	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		25	Whole gene deletion(20)|Substitution - Nonsense(2)|Unknown(2)|Deletion - Frameshift(1)	p.0?(19)|p.?(3)|p.G52_P179del(1)|p.E70fs*26(1)|p.E70*(1)	cervix(15)|lung(5)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CM981865	STK11	M		c.(208-210)GAG>TAG		serine/threonine protein kinase 11							41.0	45.0	43.0					19																	1207120		2080	4202	6282	SO:0001587	stop_gained	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207120G>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.208G>T	19.37:g.1207120G>T	ENSP00000324856:p.Glu70*	TSP Lung(3;<1E-08)					p.E70*	NM_000455	NP_000446	Q15831	STK11_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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1323	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	70			Protein kinase.		B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	37	c.208G>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	47	13.794195	0.99763	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	3.9	3.9	0.45041	.	0.114259	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-27.1016	14.9008	0.70678	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000324856:E70X	E	+	1	0	STK11	1158120	1.000000	0.71417	0.988000	0.46212	0.847000	0.48162	6.351000	0.73022	1.733000	0.51620	0.462000	0.41574	GAG		0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		8	26	1	0	0.000157383	0.00308	0.000190747	8	26				
MBD3	53615	broad.mit.edu	37	19	1578464	1578464	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:1578464C>A	ENST00000434436.3	-	6	880	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	MBD3_ENST00000156825.1_Missense_Mutation_p.V251L|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.V219L|MBD3_ENST00000590550.2_Missense_Mutation_p.V195L|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	251					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)	p.V251L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCCACGTGCGCCAGC	0.677																																							uc002ltl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(751-753)GTG>TTG		methyl-CpG binding domain protein 3							62.0	61.0	61.0					19																	1578464		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578464C>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.751G>T	19.37:g.1578464C>A	ENSP00000412302:p.Val251Leu					uc002lti.1_5'Flank|MBD3_uc002ltj.2_Missense_Mutation_p.V251L|MBD3_uc002ltk.2_Missense_Mutation_p.V219L	p.V251L	NM_003926	NP_003917	O95983	MBD3_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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	6	773	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	251					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.751G>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746828	0.30955	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98400	-4.91	4.32	4.32	0.51571	.	0.064022	0.64402	D	0.000009	D	0.95050	0.8397	L	0.27053	0.805	0.33846	D	0.632076	B;B	0.32693	0.38;0.229	B;B	0.30572	0.117;0.037	D	0.96986	0.9718	10	0.30854	T	0.27	-45.4401	15.3787	0.74633	0.0:1.0:0.0:0.0	.	219;251	O95983-2;O95983	.;MBD3_HUMAN	L	219;251	ENSP00000156825:V251L	ENSP00000156825:V251L	V	-	1	0	MBD3	1529464	0.841000	0.29509	0.944000	0.38274	0.525000	0.34531	1.922000	0.40045	1.950000	0.56595	0.313000	0.20887	GTG		0.677	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		14	60	1	0	3.27435e-08	0.00245	4.62165e-08	14	60				
SAFB2	9667	broad.mit.edu	37	19	5612565	5612565	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:5612565G>T	ENST00000252542.4	-	6	884	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S207Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCAAAAGGGATTCTTCAAT	0.338																																					Ovarian(127;888 1728 23957 44128 52668)	Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(619-621)TCC>TAC		scaffold attachment factor B2							91.0	91.0	91.0					19																	5612565		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5612565G>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.620C>A	19.37:g.5612565G>T	ENSP00000252542:p.Ser207Tyr					SAFB2_uc010xio.1_Missense_Mutation_p.S207Y|SAFB2_uc010xip.1_RNA	p.S207Y	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	6	832	-			207					B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.620C>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620687	0.28889	.	.	ENSG00000130254	ENST00000252542;ENST00000536849	T	0.08720	3.06	5.35	4.25	0.50352	.	0.485521	0.17903	N	0.158107	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B;D	0.57899	0.041;0.981	B;B	0.42062	0.028;0.374	T	0.32107	-0.9919	10	0.66056	D	0.02	-2.974	6.3423	0.21330	0.1168:0.0:0.7008:0.1824	.	207;207	A0PJ47;Q14151	.;SAFB2_HUMAN	Y	207;186	ENSP00000252542:S207Y	ENSP00000252542:S207Y	S	-	2	0	SAFB2	5563565	0.390000	0.25213	0.015000	0.15790	0.926000	0.56050	3.151000	0.50670	2.513000	0.84729	0.655000	0.94253	TCC		0.338	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		9	44	1	0	1.76689e-08	0.006214	2.52541e-08	9	44				
TUBB4A	10382	broad.mit.edu	37	19	6495433	6495433	+	Silent	SNP	G	G	A	rs370390509	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:6495433G>A	ENST00000264071.2	-	4	1448	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.R359R|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	359					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R359R(1)									TCTTCAGGCCGCGGGGCGGGA	0.622													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18506	0.0		0.001	False		,,,				2504	0.0						uc002mfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1075-1077)CGC>CGT		tubulin, beta 4		G		0,4406		0,0,2203	165.0	145.0	152.0		1077	-6.7	1.0	19		152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TUBB4	NM_006087.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		359/445	6495433	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495433G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1077C>T	19.37:g.6495433G>A						TUBB4_uc002mff.1_Silent_p.R287R|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.R359R	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1184	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	359					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.1077C>T	CCDS12168.1																																																																																				0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		41	167	0	0	0	0.007835	0	41	167				
MUC16	94025	broad.mit.edu	37	19	9013855	9013855	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:9013855G>T	ENST00000397910.4	-	33	38738	c.38535C>A	c.(38533-38535)ccC>ccA	p.P12845P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12847				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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)		p.P12845P(1)		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						ATGTAGGGCTGGGGAGGGAGG	0.478																																							uc002mkp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38533-38535)CCC>CCA		mucin 16							69.0	63.0	65.0					19																	9013855		1922	4124	6046	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9013855G>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.38535C>A	19.37:g.9013855G>T						MUC16_uc010xki.1_5'Flank	p.P12845P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			33	38739	-			12847	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38535C>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	29	1	0	5.18039e-06	0.00308	6.7716e-06	8	29				
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:11527319C>A	ENST00000380456.3	-	4	457	c.394G>T	c.(394-396)Gta>Tta	p.V132L	RGL3_ENST00000393423.3_Missense_Mutation_p.V132L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567																																					GBM(174;751 2067 17998 27979 33959)	GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)GTA>TTA		ral guanine nucleotide dissociation							116.0	106.0	109.0					19																	11527319		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527319C>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.394G>T	19.37:g.11527319C>A	ENSP00000369823:p.Val132Leu					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.V132L|RGL3_uc002mrq.2_3'UTR	p.V132L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			4	458	-			132			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.394G>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459537	0.26248	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.50001	0.76;0.76	3.95	3.95	0.45737	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.856350	0.02361	N	0.076911	T	0.39332	0.1074	L	0.27053	0.805	0.09310	N	1	B;B	0.26635	0.155;0.01	B;B	0.24006	0.05;0.015	T	0.20371	-1.0277	10	0.17832	T	0.49	.	12.2007	0.54323	0.0:1.0:0.0:0.0	.	132;132	Q3MIN7;B5ME84	RGL3_HUMAN;.	L	132	ENSP00000377075:V132L;ENSP00000369823:V132L	ENSP00000369823:V132L	V	-	1	0	RGL3	11388319	0.004000	0.15560	0.005000	0.12908	0.051000	0.14879	2.029000	0.41098	2.132000	0.65825	0.561000	0.74099	GTA		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		28	95	1	0	8.16721e-17	0.002096	1.35561e-16	28	95				
ZNF439	90594	broad.mit.edu	37	19	11978327	11978327	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:11978327G>T	ENST00000304030.2	+	3	643	c.443G>T	c.(442-444)tGt>tTt	p.C148F	ZNF439_ENST00000455282.1_Missense_Mutation_p.C12F|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C148F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CACAAGGCATGTGAATGTCAG	0.428																																							uc002mss.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(442-444)TGT>TTT		zinc finger protein 439							201.0	188.0	192.0					19																	11978327		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978327G>T	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.443G>T	19.37:g.11978327G>T	ENSP00000305077:p.Cys148Phe					ZNF439_uc002msr.2_Missense_Mutation_p.C12F	p.C148F	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	571	+			148					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.443G>T	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.232832	0.00277	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.07216	3.21;3.3	0.457	-0.914	0.10497	.	.	.	.	.	T	0.03390	0.0098	N	0.04203	-0.255	0.09310	N	1	B	0.20164	0.042	B	0.18263	0.021	T	0.40869	-0.9540	9	0.38643	T	0.18	.	4.3504	0.11153	0.2054:0.0:0.5802:0.2144	.	148	Q8NDP4	ZN439_HUMAN	F	12;148	ENSP00000395632:C12F;ENSP00000305077:C148F	ENSP00000305077:C148F	C	+	2	0	ZNF439	11839327	0.936000	0.31750	0.000000	0.03702	0.011000	0.07611	-0.275000	0.08525	-1.789000	0.01264	-1.619000	0.00793	TGT		0.428	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			45	148	1	0	3.05275e-18	0.003214	5.112e-18	45	148				
OR10H5	284433	broad.mit.edu	37	19	15905246	15905246	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:15905246C>T	ENST00000308940.8	+	1	486	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTGCCACCCCCTGCGTTACAA	0.627																																							uc010xos.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)CTG>TTG		olfactory receptor, family 10, subfamily H,							122.0	102.0	109.0					19																	15905246		2203	4300	6503	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905246C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.388C>T	19.37:g.15905246C>T							p.L130L	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	388	+			130			Cytoplasmic (Potential).		Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.388C>T	CCDS32940.1																																																																																				0.627	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			6	62	0	0	0	0.001168	0	6	62				
ZNF208	7757	broad.mit.edu	37	19	22157095	22157095	+	Missense_Mutation	SNP	A	A	T	rs534477649	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:22157095A>T	ENST00000397126.4	-	4	889	c.741T>A	c.(739-741)caT>caA	p.H247Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H247Q(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAATTACCTTATGTTTAGTAA	0.353																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(739-741)CAT>CAA		zinc finger protein 208							36.0	40.0	39.0					19																	22157095		2109	4238	6347	SO:0001583	missense	7757							g.chr19:22157095A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.741T>A	19.37:g.22157095A>T	ENSP00000380315:p.His247Gln					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.H247Q	NM_007153	NP_009084					4	890	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.741T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631885	0.29068	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86865	-2.18	2.93	0.619	0.17630	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84437	0.5472	.	.	.	0.09310	N	1	D	0.53745	0.962	P	0.49528	0.614	T	0.74000	-0.3805	8	0.66056	D	0.02	.	2.9489	0.05855	0.443:0.0:0.3571:0.2	.	247	O43345	ZN208_HUMAN	Q	247	ENSP00000380315:H247Q	ENSP00000380315:H247Q	H	-	3	2	ZNF208	21948935	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.316000	0.08071	-0.358000	0.08162	-0.908000	0.02827	CAT		0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	56	0	0	0	0.000248	0	4	56				
ZNF599	148103	broad.mit.edu	37	19	35258315	35258315	+	Splice_Site	SNP	C	C	T	rs147712651		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:35258315C>T	ENST00000329285.8	-	3	520	c.147G>A	c.(145-147)ggG>ggA	p.G49G	ZNF599_ENST00000587354.2_Splice_Site_p.G49G|ZNF599_ENST00000588760.1_Splice_Site_p.G49G	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	49	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)	p.G49G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAACAGGATGCCCTGTGCATG	0.453																																							uc010edn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(145-147)GGG>GGA		zinc finger protein 599		C		0,4406		0,0,2203	90.0	74.0	79.0		147	-0.7	1.0	19	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	ZNF599	NM_001007248.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		49/589	35258315	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35258315C>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.146-1G>A	19.37:g.35258315C>T						ZNF599_uc010edm.1_Silent_p.G12G|ZNF599_uc010xsd.1_RNA|ZNF599_uc010edo.1_RNA	p.G49G	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	535	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		49			KRAB.		Q569K0|Q5PRG1	Silent	SNP	ENST00000329285.8	37	c.147G>A	CCDS32991.1																																																																																				0.453	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	Silent	3	53	0	0	0	0.000248	0	3	53				
ZFP14	57677	broad.mit.edu	37	19	36831713	36831713	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:36831713G>A	ENST00000270001.7	-	5	1130	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	339					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)	p.P339S(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTCATAGGGTTTCTCACCA	0.393																																							uc002odx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)CCC>TCC		zinc finger protein 14-like							86.0	86.0	86.0					19																	36831713		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831713G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1015C>T	19.37:g.36831713G>A	ENSP00000270001:p.Pro339Ser					ZFP14_uc010xtd.1_Missense_Mutation_p.P340S|ZFP14_uc010eex.1_Missense_Mutation_p.P339S	p.P339S	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1108	-	Esophageal squamous(110;0.162)		339					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.1015C>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635653	0.67130	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.55930	0.49	3.86	3.86	0.44501	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000390	T	0.68732	0.3033	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.72161	-0.4374	10	0.56958	D	0.05	.	15.0592	0.71939	0.0:0.0:1.0:0.0	.	339;339	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	S	339	ENSP00000270001:P339S	ENSP00000270001:P339S	P	-	1	0	ZFP14	41523553	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.279000	0.95777	2.141000	0.66446	0.549000	0.68633	CCC		0.393	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		23	76	0	0	0	0.00278	0	23	76				
ZNF260	339324	broad.mit.edu	37	19	37005662	37005662	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:37005662C>G	ENST00000523638.1	-	3	1600	c.479G>C	c.(478-480)gGa>gCa	p.G160A	ZNF260_ENST00000593142.1_Missense_Mutation_p.G160A|ZNF260_ENST00000592282.1_Missense_Mutation_p.G160A|ZNF260_ENST00000588993.1_Missense_Mutation_p.G160A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	160					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G160A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGGTTTTTCTCCAGTATGAAT	0.393																																							uc002oee.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GGA>GCA		zinc finger protein 260							177.0	182.0	180.0					19																	37005662		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005662C>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.479G>C	19.37:g.37005662C>G	ENSP00000429803:p.Gly160Ala					ZNF260_uc002oed.1_Missense_Mutation_p.G157A|ZNF260_uc010eey.1_Missense_Mutation_p.G157A|ZNF260_uc002oef.1_Missense_Mutation_p.G157A	p.G160A	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1323	-	Esophageal squamous(110;0.162)		160					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.479G>C	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881420	0.51801	.	.	ENSG00000254004	ENST00000523638	T	0.26373	1.74	4.58	3.53	0.40419	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30386	0.0763	M	0.74467	2.265	0.41359	D	0.987419	P	0.51449	0.945	B	0.43990	0.438	T	0.18053	-1.0349	9	0.87932	D	0	.	7.8238	0.29303	0.0:0.7452:0.1659:0.0888	.	160	Q3ZCT1	ZN260_HUMAN	A	160	ENSP00000429803:G160A	ENSP00000429803:G160A	G	-	2	0	ZNF260	41697502	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.565000	0.23578	1.251000	0.43983	0.561000	0.74099	GGA		0.393	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		25	212	0	0	0	0.005443	0	25	212				
RYR1	6261	broad.mit.edu	37	19	38997148	38997148	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:38997148C>G	ENST00000359596.3	+	56	8654	c.8654C>G	c.(8653-8655)aCg>aGg	p.T2885R	RYR1_ENST00000360985.3_Missense_Mutation_p.T2885R|RYR1_ENST00000355481.4_Missense_Mutation_p.T2885R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2885	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T2885R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TACCACAACACGTGGGGACGG	0.582																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(8653-8655)ACG>AGG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						61.0	59.0	60.0					19																	38997148		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38997148C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8654C>G	19.37:g.38997148C>G	ENSP00000352608:p.Thr2885Arg					RYR1_uc002oiu.2_Missense_Mutation_p.T2885R|RYR1_uc002oiv.1_5'UTR	p.T2885R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		56	8784	+	all_cancers(60;7.91e-06)		2885			6 X approximate repeats.|Cytoplasmic.|6.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8654C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017404	0.35606	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91464	-2.85;-2.85;-2.85	3.14	3.14	0.36123	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.91978	0.7459	L	0.47716	1.5	0.42326	D	0.992274	D;B	0.89917	1.0;0.229	D;B	0.70935	0.971;0.009	D	0.92003	0.5612	10	0.87932	D	0	.	9.8075	0.40801	0.0:0.8902:0.0:0.1098	.	2885;2885	P21817-2;P21817	.;RYR1_HUMAN	R	2885	ENSP00000352608:T2885R;ENSP00000347667:T2885R;ENSP00000354254:T2885R	ENSP00000347667:T2885R	T	+	2	0	RYR1	43688988	0.991000	0.36638	0.992000	0.48379	0.557000	0.35523	2.964000	0.49192	1.774000	0.52232	0.305000	0.20034	ACG		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	32	0	0	0	0.001168	0	5	32				
RYR1	6261	broad.mit.edu	37	19	39001357	39001357	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:39001357A>G	ENST00000359596.3	+	60	9058	c.9058A>G	c.(9058-9060)Act>Gct	p.T3020A	RYR1_ENST00000360985.3_Missense_Mutation_p.T3020A|RYR1_ENST00000355481.4_Missense_Mutation_p.T3020A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3020					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T3020A(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTTCTTGTCCACTCCGGCTAA	0.582																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9058-9060)ACT>GCT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						161.0	165.0	164.0					19																	39001357		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39001357A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9058A>G	19.37:g.39001357A>G	ENSP00000352608:p.Thr3020Ala					RYR1_uc002oiu.2_Missense_Mutation_p.T3020A|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	p.T3020A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		60	9188	+	all_cancers(60;7.91e-06)		3020			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9058A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314166	0.40996	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.61859	0.07;0.07;0.07	4.7	4.7	0.59300	.	0.000000	0.64402	U	0.000001	T	0.46367	0.1389	L	0.27053	0.805	0.41515	D	0.988361	P;P	0.46512	0.879;0.807	P;B	0.45639	0.488;0.294	T	0.37337	-0.9710	10	0.27082	T	0.32	.	10.2256	0.43222	0.8516:0.0:0.0:0.1484	.	3020;3020	P21817-2;P21817	.;RYR1_HUMAN	A	3020	ENSP00000352608:T3020A;ENSP00000347667:T3020A;ENSP00000354254:T3020A	ENSP00000347667:T3020A	T	+	1	0	RYR1	43693197	0.999000	0.42202	0.996000	0.52242	0.780000	0.44128	2.153000	0.42282	1.982000	0.57802	0.459000	0.35465	ACT		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			32	175	0	0	0	0.004289	0	32	175				
TGFB1	7040	broad.mit.edu	37	19	41854260	41854260	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:41854260C>T	ENST00000221930.5	-	2	1322	c.456G>A	c.(454-456)cgG>cgA	p.R152R	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	152	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R152R(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GCAGCTCTGCCCGGGAGAGCA	0.522																																							uc002oqh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CGG>CGA		transforming growth factor, beta 1 precursor	Hyaluronidase(DB00070)						133.0	121.0	125.0					19																	41854260		2203	4300	6503	SO:0001819	synonymous_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41854260C>T	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.456G>A	19.37:g.41854260C>T						CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_5'Flank	p.R152R	NM_000660	NP_000651	P01137	TGFB1_HUMAN			2	1323	-			152					A8K792|Q9UCG4	Silent	SNP	ENST00000221930.5	37	c.456G>A	CCDS33031.1																																																																																				0.522	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			15	169	0	0	0	0.003163	0	15	169				
PSG5	5673	broad.mit.edu	37	19	43679369	43679369	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:43679369G>C	ENST00000366175.3	-	4	1092	c.962C>G	c.(961-963)tCt>tGt	p.S321C	PSG5_ENST00000404580.1_Missense_Mutation_p.S321C|PSG5_ENST00000407356.1_Missense_Mutation_p.S321C|PSG5_ENST00000599812.1_Missense_Mutation_p.S414C|PSG5_ENST00000342951.6_Missense_Mutation_p.S321C|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	321					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S321C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCACTTACCAGAGACTTCGAC	0.453																																							uc002ovu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(961-963)TCT>TGT		pregnancy specific beta-1-glycoprotein 5							125.0	149.0	140.0					19																	43679369		2202	4294	6496	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679369G>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.962C>G	19.37:g.43679369G>C	ENSP00000382334:p.Ser321Cys					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S196C|PSG5_uc002ovx.2_Missense_Mutation_p.S321C|PSG5_uc002ovv.2_Missense_Mutation_p.S414C|PSG5_uc002ovw.2_Intron	p.S321C	NM_002781	NP_002772	Q15238	PSG5_HUMAN			4	1093	-		Prostate(69;0.00899)	321					Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.962C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	10.05	1.243093	0.22796	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11604	5.15;5.15;5.15;2.76	1.25	-2.5	0.06384	Immunoglobulin-like fold (1);	.	.	.	.	T	0.18718	0.0449	M	0.84326	2.69	0.09310	N	0.99999	P	0.45827	0.867	P	0.51999	0.687	T	0.14504	-1.0470	9	0.38643	T	0.18	.	1.6261	0.02723	0.2774:0.0:0.3935:0.329	.	321	Q15238	PSG5_HUMAN	C	321	ENSP00000382334:S321C;ENSP00000386008:S321C;ENSP00000344413:S321C;ENSP00000385250:S321C	ENSP00000344413:S321C	S	-	2	0	PSG5	48371209	0.000000	0.05858	0.120000	0.21714	0.038000	0.13279	-1.402000	0.02499	-0.194000	0.10399	0.184000	0.17185	TCT		0.453	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		38	355	0	0	0	0.00361	0	38	355				
PSG4	5672	broad.mit.edu	37	19	43702175	43702175	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:43702175C>A	ENST00000405312.3	-	3	920	c.683G>T	c.(682-684)aGt>aTt	p.S228I	PSG4_ENST00000244295.9_Missense_Mutation_p.S228I|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	228	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.S228I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GACTGGGTCACTGCGGCTGGC	0.517																																							uc002ovy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(682-684)AGT>ATT		pregnancy specific beta-1-glycoprotein 4 isoform							52.0	64.0	60.0					19																	43702175		2117	4261	6378	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702175C>A		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.683G>T	19.37:g.43702175C>A	ENSP00000384770:p.Ser228Ile					PSG6_uc010xwk.1_Missense_Mutation_p.S67I|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.S228I	p.S228I	NM_002780	NP_002771	Q00888	PSG4_HUMAN			3	785	-		Prostate(69;0.00682)	228			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.683G>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258586	0.39896	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.20598	2.06;2.06;2.06	1.96	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50786	0.1636	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.56226	-0.8014	9	0.87932	D	0	.	7.3642	0.26764	0.0:1.0:0.0:0.0	.	244;228;228	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	228;228;244	ENSP00000244295:S228I;ENSP00000384770:S228I;ENSP00000388134:S244I	ENSP00000244295:S228I	S	-	2	0	PSG4	48394015	0.657000	0.27393	0.373000	0.26003	0.011000	0.07611	1.077000	0.30741	1.106000	0.41623	0.416000	0.27883	AGT		0.517	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		111	276	1	0	1.11784e-71	0.00361	1.92895e-71	111	276				
APOE	348	broad.mit.edu	37	19	45412464	45412465	+	Missense_Mutation	DNP	CC	CC	AA	rs539470710		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:45412464_45412465CC>AA	ENST00000252486.4	+	4	1022_1023	c.911_912CC>AA	c.(910-912)gCC>gAA	p.A304E		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	304					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A304E(1)		large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GTGCAGGCTGCCGTGGGCACCA	0.708																																							uc002pab.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GCC>GAA		apolipoprotein E precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)																																			SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45412464_45412465CC>AA	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	Exception_encountered	19.37:g.45412464_45412465delinsAA	ENSP00000252486:p.Ala304Glu						p.A304E	NM_000041	NP_000032	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	994_995	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	304					B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	DNP	ENST00000252486.4	37	c.911_912CC>AA	CCDS12647.1																																																																																				0.708	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		5	15	0	0	0	0.004672	0	5	15				
APOC2	344	broad.mit.edu	37	19	45452505	45452505	+	Nonstop_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:45452505A>T	ENST00000590360.1	+	4	427	c.305A>T	c.(304-306)tAa>tTa	p.*102L	APOC2_ENST00000252490.4_Nonstop_Mutation_p.*102L|APOC4_ENST00000419266.2_3'UTR|APOC2_ENST00000592257.1_3'UTR|APOC2_ENST00000585786.1_3'UTR|APOC4-APOC2_ENST00000589057.1_Nonstop_Mutation_p.*179L|APOC2_ENST00000591597.1_Nonstop_Mutation_p.*88L			P02655	APOC2_HUMAN	apolipoprotein C-II	0					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)	p.*102L(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGAGAGGAGTAACAGCCAGAC	0.542																																							uc002pah.2		NA																	1	Nonstop extension(1)		lung(1)	kidney(1)	1						c.(304-306)TAA>TTA		apolipoprotein C-II precursor							88.0	75.0	79.0					19																	45452505		2203	4300	6503	SO:0001578	stop_lost	344				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity	g.chr19:45452505A>T	X00568	CCDS12650.1	19q13.2	2013-01-24			ENSG00000234906	ENSG00000234906		"""Apolipoproteins"""	609	protein-coding gene	gene with protein product		608083					Standard	NM_000483		Approved			P02655	OTTHUMG00000180847	ENST00000590360.1:c.305A>T	19.37:g.45452505A>T	ENSP00000466775:p.*102Leuext*23						p.*102L	NM_000483	NP_000474	P02655	APOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	408	+	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)	102					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Nonstop_Mutation	SNP	ENST00000590360.1	37	c.305A>T	CCDS12650.1	.	.	.	.	.	.	.	.	.	.	A	1.667	-0.509908	0.04231	.	.	ENSG00000234906	ENST00000252490	.	.	.	4.19	-4.04	0.04010	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0092	0.19565	0.2449:0.0:0.5865:0.1686	.	.	.	.	L	102	.	.	X	+	2	2	APOC2	50144345	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	-0.262000	0.08682	-0.635000	0.05531	-0.662000	0.03851	TAA		0.542	APOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453261.1	NM_000483		7	30	0	0	0	0.00308	0	7	30				
CCDC61	729440	broad.mit.edu	37	19	46519634	46519634	+	Missense_Mutation	SNP	G	G	C	rs369003107		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:46519634G>C	ENST00000595358.1	+	9	1123	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H	CCDC61_ENST00000594087.1_Intron|CCDC61_ENST00000536603.1_Intron|MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000263284.2_Missense_Mutation_p.Q377H	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	358						centrosome (GO:0005813)		p.Q377H(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AAAGGAAGCAGAGAGAGATCC	0.657																																							uc002pdw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1129-1131)CAG>CAC		coiled-coil domain containing 61							103.0	124.0	117.0					19																	46519634		2088	4207	6295	SO:0001583	missense	729440							g.chr19:46519634G>C		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1074G>C	19.37:g.46519634G>C	ENSP00000471454:p.Gln358His					MIR769_hsa-mir-769|MI0003834_5'Flank	p.Q377H	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	10	1131	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	c.1131G>C	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002502	0.54254	.	.	ENSG00000104983	ENST00000263284	.	.	.	4.19	3.15	0.36227	.	0.196285	0.44902	D	0.000415	T	0.61825	0.2378	L	0.61218	1.895	0.80722	D	1	B	0.28880	0.226	B	0.39617	0.305	T	0.62900	-0.6756	9	0.66056	D	0.02	-33.4429	7.7455	0.28866	0.1164:0.0:0.8836:0.0	.	320	Q9Y6R9	CCD61_HUMAN	H	377	.	ENSP00000263284:Q377H	Q	+	3	2	CCDC61	51211474	1.000000	0.71417	0.949000	0.38748	0.965000	0.64279	3.140000	0.50585	0.986000	0.38683	0.544000	0.68410	CAG		0.657	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		3	31	0	0	0	0.000248	0	3	31				
PLEKHA4	57664	broad.mit.edu	37	19	49351253	49351253	+	Silent	SNP	C	C	A	rs148488396		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:49351253C>A	ENST00000263265.6	-	14	2025	c.1470G>T	c.(1468-1470)acG>acT	p.T490T	PLEKHA4_ENST00000355496.5_Silent_p.T465T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	490						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.T490T(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GACCTGCCAGCGTGTCTTCCA	0.587																																							uc002pkx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1468-1470)ACG>ACT		pleckstrin homology domain containing family A							30.0	31.0	30.0					19																	49351253		2203	4300	6503	SO:0001819	synonymous_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49351253C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1470G>T	19.37:g.49351253C>A						PLEKHA4_uc002pkw.1_Silent_p.T5T|PLEKHA4_uc010eml.2_Silent_p.T465T	p.T490T	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	14	2021	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	490					Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.1470G>T	CCDS12737.1																																																																																				0.587	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			5	28	1	0	0.000602214	0.000602	0.000713082	5	28				
CPT1C	126129	broad.mit.edu	37	19	50204052	50204052	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:50204052C>G	ENST00000392518.4	+	5	765	c.393C>G	c.(391-393)tcC>tcG	p.S131S	CPT1C_ENST00000323446.5_Silent_p.S131S|CPT1C_ENST00000405931.2_Silent_p.S131S|CPT1C_ENST00000354199.5_Silent_p.S131S|CPT1C_ENST00000598293.1_Silent_p.S131S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	131					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.S131S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGCTTCTGTCCTACCACGGCT	0.657																																							uc002ppj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(391-393)TCC>TCG		carnitine palmitoyltransferase 1C isoform 2							158.0	134.0	142.0					19																	50204052		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50204052C>G	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.393C>G	19.37:g.50204052C>G						CPT1C_uc002ppl.3_Silent_p.S131S|CPT1C_uc002ppi.2_Silent_p.S48S|CPT1C_uc002ppk.2_Silent_p.S131S|CPT1C_uc010eng.2_Silent_p.S131S|CPT1C_uc010enh.2_Silent_p.S131S|CPT1C_uc010ybc.1_Intron	p.S131S	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	4	598	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	131			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.393C>G	CCDS12779.1																																																																																				0.657	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		16	112	0	0	0	0.006122	0	16	112				
SIGLEC12	89858	broad.mit.edu	37	19	52000183	52000183	+	Missense_Mutation	SNP	C	C	T	rs199678570		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52000183C>T	ENST00000291707.3	-	7	1605	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G399E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	517					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G517E(1)		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)		GCCTGTATCCCCCACGCCCAC	0.592													N|||	1	0.000199681	0.0	0.0	5008	,	,		19173	0.0		0.001	False		,,,				2504	0.0						uc002pwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1549-1551)GGG>GAG		sialic acid binding immunoglobulin-like							180.0	136.0	151.0					19																	52000183		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52000183C>T	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.1550G>A	19.37:g.52000183C>T	ENSP00000291707:p.Gly517Glu					SIGLEC12_uc002pww.1_Missense_Mutation_p.G399E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G244E	p.G517E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1606	-		all_neural(266;0.0199)	517			Cytoplasmic (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1550G>A	CCDS12833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	5.210	0.224220	0.09863	.	.	ENSG00000254521	ENST00000291707	T	0.37411	1.2	1.03	-0.386	0.12466	.	.	.	.	.	T	0.27629	0.0679	L	0.53249	1.67	0.09310	N	1	B;B	0.26400	0.146;0.148	B;B	0.27887	0.024;0.084	T	0.27191	-1.0081	9	0.26408	T	0.33	.	3.8162	0.08817	0.424:0.576:0.0:0.0	.	517;399	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	E	517	ENSP00000291707:G517E	ENSP00000291707:G517E	G	-	2	0	SIGLEC12	56691995	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.507000	0.06352	-0.040000	0.13580	0.395000	0.25975	GGG		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		6	83	0	0	0	0.006214	0	6	83				
FPR2	2358	broad.mit.edu	37	19	52272055	52272055	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52272055C>G	ENST00000598776.1	+	2	916	c.144C>G	c.(142-144)atC>atG	p.I48M	FPR2_ENST00000598953.1_Missense_Mutation_p.I48M|FPR2_ENST00000340023.6_Missense_Mutation_p.I48M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	48					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.I48M(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGCTTGTGATCTGGGTGGCTG	0.557																																							uc002pxr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(142-144)ATC>ATG		formyl peptide receptor-like 1							189.0	152.0	165.0					19																	52272055		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272055C>G	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.144C>G	19.37:g.52272055C>G	ENSP00000468897:p.Ile48Met					FPR2_uc002pxs.3_Missense_Mutation_p.I48M|FPR2_uc010epf.2_Missense_Mutation_p.I48M	p.I48M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	189	+			48			Helical; Name=1; (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.144C>G	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.036385	0.54896	.	.	ENSG00000171049	ENST00000340023	T	0.76316	-1.01	3.61	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	D	0.82577	0.5067	M	0.73372	2.23	0.32434	N	0.547669	D	0.89917	1.0	D	0.77557	0.99	T	0.80867	-0.1190	10	0.87932	D	0	.	3.6188	0.08087	0.0:0.547:0.213:0.24	.	48	P25090	FPR2_HUMAN	M	48	ENSP00000340191:I48M	ENSP00000340191:I48M	I	+	3	3	FPR2	56963867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.242000	0.32755	0.306000	0.22856	0.491000	0.48974	ATC		0.557	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		15	88	0	0	0	0.004007	0	15	88				
ZNF649	65251	broad.mit.edu	37	19	52394602	52394602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52394602C>A	ENST00000354957.3	-	5	1071	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.G235W	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G263W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACTGCACCCGTATGGTTTC	0.502																																							uc002pxy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(787-789)GGG>TGG		zinc finger protein 649							117.0	118.0	117.0					19																	52394602		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394602C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.787G>T	19.37:g.52394602C>A	ENSP00000347043:p.Gly263Trp					ZNF577_uc010ydf.1_5'Flank	p.G263W	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1055	-		all_neural(266;0.0602)	263			C2H2-type 4.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.787G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395001	0.25205	.	.	ENSG00000198093	ENST00000354957	T	0.17691	2.26	2.52	1.46	0.22682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21631	0.0521	L	0.33339	1.005	0.09310	N	1	D	0.63880	0.993	P	0.61533	0.89	T	0.11397	-1.0589	9	0.87932	D	0	.	3.0451	0.06151	0.0:0.4781:0.2357:0.2861	.	263	Q9BS31	ZN649_HUMAN	W	263	ENSP00000347043:G263W	ENSP00000347043:G263W	G	-	1	0	ZNF649	57086414	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.036000	0.00635	0.269000	0.21961	0.404000	0.27445	GGG		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		21	93	1	0	1.87028e-06	0.001882	2.50848e-06	21	93				
ZNF415	55786	broad.mit.edu	37	19	53612605	53612605	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:53612605C>A	ENST00000500065.4	-	4	1026	c.693G>T	c.(691-693)atG>atT	p.M231I	ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I|ZNF415_ENST00000455735.2_Missense_Mutation_p.M279I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M231I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403																																							uc002qax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)ATG>ATT		RecName: Full=Zinc finger protein 415;							141.0	116.0	124.0					19																	53612605		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612605C>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.693G>T	19.37:g.53612605C>A	ENSP00000439435:p.Met231Ile					ZNF415_uc002qat.2_Missense_Mutation_p.M243I|ZNF415_uc002qaw.2_Missense_Mutation_p.M231I|ZNF415_uc010yds.1_Missense_Mutation_p.M231I|ZNF415_uc010ydt.1_Missense_Mutation_p.M231I|ZNF415_uc002qau.2_Missense_Mutation_p.M218I|ZNF415_uc002qav.2_Missense_Mutation_p.M243I|ZNF415_uc002qba.2_Missense_Mutation_p.M1I|ZNF415_uc002qay.2_Missense_Mutation_p.M218I|ZNF415_uc002qaz.2_Missense_Mutation_p.M279I	p.M279I	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1186	-			279			C2H2-type 1; degenerate.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.837G>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	7.137	0.580972	0.13686	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	2.61	-5.22	0.02806	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10551	0.0258	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B;B	0.29085	0.0;0.034;0.0;0.015;0.0;0.232	B;B;B;B;B;B	0.30251	0.0;0.053;0.0;0.016;0.0;0.113	T	0.27739	-1.0065	9	0.87932	D	0	.	2.8929	0.05681	0.557:0.2064:0.1341:0.1025	.	231;279;279;231;218;243	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	I	231;231;279;243;279;218	ENSP00000243643:M231I;ENSP00000439435:M231I;ENSP00000396492:M279I;ENSP00000395055:M243I;ENSP00000388787:M279I;ENSP00000414601:M218I	ENSP00000243643:M231I	M	-	3	0	ZNF415	58304417	0.001000	0.12720	0.000000	0.03702	0.107000	0.19398	-0.265000	0.08644	-2.937000	0.00298	0.313000	0.20887	ATG		0.403	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		9	95	1	0	1.12685e-05	0.004482	1.45284e-05	9	95				
LILRB1	10859	broad.mit.edu	37	19	55143933	55143933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55143933C>A	ENST00000396331.1	+	7	1037	c.680C>A	c.(679-681)tCa>tAa	p.S227*	LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S263*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S227*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S227*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	227	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.S227*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AAGAAGCCATCACTCTCAGTG	0.552										HNSCC(37;0.09)																													uc002qgj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(679-681)TCA>TAA		leukocyte immunoglobulin-like receptor,							93.0	97.0	96.0					19																	55143933		2203	4300	6503	SO:0001587	stop_gained	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143933C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.680C>A	19.37:g.55143933C>A	ENSP00000379622:p.Ser227*	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S227*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S227*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S227*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S227*|LILRB1_uc010err.2_RNA	p.S227*	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1020	+			227			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	ENST00000396331.1	37	c.680C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351162	0.41700	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	.	.	.	1.81	0.595	0.17490	.	0.633886	0.14070	N	0.343401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0283	0.14396	0.3515:0.6485:0.0:0.0	.	.	.	.	X	227;227;227;227;227;227;227;227;263;227;227	.	ENSP00000315997:S227X	S	+	2	0	LILRB1	59835745	0.000000	0.05858	0.010000	0.14722	0.034000	0.12701	0.248000	0.18198	0.252000	0.21531	0.184000	0.17185	TCA		0.552	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			13	85	1	0	2.61681e-11	0.00245	4.04677e-11	13	85				
LILRB4	11006	broad.mit.edu	37	19	55179365	55179365	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55179365G>A	ENST00000391736.1	+	14	1557	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	LILRB4_ENST00000391733.3_Silent_p.Q415Q|LILRB4_ENST00000430952.2_Silent_p.Q413Q|LILRB4_ENST00000391734.3_Silent_p.Q361Q|LILRB4_ENST00000270452.2_Silent_p.Q414Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	414			Q -> R (in dbSNP:rs1048801). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9548455}.		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Q414Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCTACGCCCAGCTGCACAGCT	0.647																																							uc002qgp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1240-1242)CAG>CAA		leukocyte immunoglobulin-like receptor,							85.0	89.0	88.0					19																	55179365		2203	4300	6503	SO:0001819	synonymous_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179365G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1242G>A	19.37:g.55179365G>A						LILRB4_uc002qgq.2_Silent_p.Q413Q|LILRB4_uc002qgr.2_Silent_p.Q456Q|LILRB4_uc010ert.2_Silent_p.Q455Q|LILRB4_uc010eru.2_Silent_p.Q444Q	p.Q414Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1604	+			414			Cytoplasmic (Potential).|ITIM motif 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1242G>A	CCDS12902.1																																																																																				0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			14	80	0	0	0	0.00245	0	14	80				
NLRP2	55655	broad.mit.edu	37	19	55493713	55493713	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55493713G>T	ENST00000543010.1	+	6	790	c.647G>T	c.(646-648)gGc>gTc	p.G216V	NLRP2_ENST00000391721.4_Missense_Mutation_p.G192V|NLRP2_ENST00000339757.7_Missense_Mutation_p.G194V|NLRP2_ENST00000263437.6_Missense_Mutation_p.G213V|NLRP2_ENST00000448584.2_Missense_Mutation_p.G216V|NLRP2_ENST00000537859.1_Missense_Mutation_p.G194V|NLRP2_ENST00000538819.1_Missense_Mutation_p.G192V|NLRP2_ENST00000427260.2_Missense_Mutation_p.G193V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	216	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.			G -> S (in Ref. 4; BAG64129). {ECO:0000305}.	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.G216V(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTCCTGCAGGCCTTGGGAAA	0.537																																							uc002qij.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(646-648)GGC>GTC		NLR family, pyrin domain containing 2							69.0	69.0	69.0					19																	55493713		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493713G>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.647G>T	19.37:g.55493713G>T	ENSP00000445135:p.Gly216Val					NLRP2_uc010yfp.1_Missense_Mutation_p.G193V|NLRP2_uc010esn.2_Missense_Mutation_p.G192V|NLRP2_uc010eso.2_Missense_Mutation_p.G213V|NLRP2_uc010esp.2_Missense_Mutation_p.G194V	p.G216V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	733	+			216			NACHT.|ATP (Potential).		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.647G>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857122	0.51376	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	D;D;D;D;D;D;D;D	0.99113	-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-4.41	1.62	1.62	0.23740	NACHT nucleoside triphosphatase (1);	0.000000	0.32868	N	0.005543	D	0.99333	0.9766	H	0.95365	3.66	0.58432	D	0.999997	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79108	0.987;0.992;0.987;0.992	D	0.98686	1.0694	10	0.87932	D	0	.	9.2101	0.37313	0.0:0.0:1.0:0.0	.	194;213;192;216	Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;NALP2_HUMAN	V	216;192;194;216;194;193;192;213	ENSP00000445135:G216V;ENSP00000375601:G192V;ENSP00000344074:G194V;ENSP00000409370:G216V;ENSP00000440601:G194V;ENSP00000402474:G193V;ENSP00000441133:G192V;ENSP00000263437:G213V	ENSP00000263437:G213V	G	+	2	0	NLRP2	60185525	1.000000	0.71417	0.005000	0.12908	0.083000	0.17756	7.130000	0.77235	1.218000	0.43458	0.491000	0.48974	GGC		0.537	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		11	78	1	0	3.86212e-05	0.008291	4.81489e-05	11	78				
PEG3	5178	broad.mit.edu	37	19	57327815	57327815	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:57327815G>T	ENST00000326441.9	-	10	2358	c.1995C>A	c.(1993-1995)acC>acA	p.T665T	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.T541T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.T539T|PEG3_ENST00000423103.2_Silent_p.T665T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	665					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T665T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGGAATAAAGGTTTCCTCAC	0.443																																							uc002qnu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1993-1995)ACC>ACA		paternally expressed 3 isoform 1							127.0	128.0	128.0					19																	57327815		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327815G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1995C>A	19.37:g.57327815G>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T636T|PEG3_uc002qnv.2_Silent_p.T665T|PEG3_uc002qnw.2_Silent_p.T541T|PEG3_uc002qnx.2_Silent_p.T539T|PEG3_uc010etr.2_Silent_p.T665T	p.T665T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2346	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	665					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1995C>A	CCDS12948.1																																																																																				0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			27	177	1	0	6.38683e-12	0.008361	1.00415e-11	27	177				
ZSCAN1	284312	broad.mit.edu	37	19	58551840	58551840	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:58551840C>T	ENST00000282326.1	+	4	640	c.393C>T	c.(391-393)gtC>gtT	p.V131V		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	131					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)	p.V131V(1)		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)		TGGACTCGGTCGAACCCCAGG	0.612																																							uc002qrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(391-393)GTC>GTT		zinc finger and SCAN domain containing 1							115.0	126.0	122.0					19																	58551840		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551840C>T	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.393C>T	19.37:g.58551840C>T							p.V131V	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	640	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	131					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.393C>T	CCDS12969.1																																																																																				0.612	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		25	132	0	0	0	0.001786	0	25	132				
KIDINS220	57498	broad.mit.edu	37	2	8919884	8919884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:8919884G>A	ENST00000256707.3	-	18	2471	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q765*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q722*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGATTCTGAGTGAAGCTG	0.458																																							uc002qzc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2290-2292)CAG>TAG		kinase D-interacting substrate of 220 kDa							115.0	109.0	111.0					2																	8919884		1952	4153	6105	SO:0001587	stop_gained	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919884G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2290C>T	2.37:g.8919884G>A	ENSP00000256707:p.Gln764*					KIDINS220_uc010yiv.1_Nonsense_Mutation_p.Q530*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q722*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.Q765*	p.Q764*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			18	2472	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		764			KAP NTPase.|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	ENST00000256707.3	37	c.2290C>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	42	9.623534	0.99221	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.5636	0.95384	0.0:0.0:1.0:0.0	.	.	.	.	X	511;448;764;764;722;764;765;765	.	ENSP00000256707:Q764X	Q	-	1	0	KIDINS220	8837335	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.751000	0.98889	2.681000	0.91329	0.655000	0.94253	CAG		0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		12	49	0	0	0	0.000978	0	12	49				
DRC1	92749	broad.mit.edu	37	2	26663341	26663341	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:26663341A>G	ENST00000288710.2	+	8	1058	c.984A>G	c.(982-984)gaA>gaG	p.E328E	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	328					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E328E(1)									AGAGAGATGAAGAAAGCACAG	0.428																																							uc002rhg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)GAA>GAG		hypothetical protein LOC92749							79.0	73.0	75.0					2																	26663341		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26663341A>G	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.984A>G	2.37:g.26663341A>G						C2orf39_uc010eym.1_Intron	p.E328E	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			8	1058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		328			Potential.		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.984A>G	CCDS1723.1																																																																																				0.428	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		5	52	0	0	0	0.000602	0	5	52				
FAM179A	165186	broad.mit.edu	37	2	29222107	29222107	+	Missense_Mutation	SNP	G	G	T	rs200101077	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:29222107G>T	ENST00000379558.4	+	4	551	c.200G>T	c.(199-201)cGt>cTt	p.R67L	FAM179A_ENST00000403861.2_Missense_Mutation_p.R67L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	67								p.R67L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCTCCTGCGTGGACTCGGA	0.617																																							uc010ezl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(199-201)CGT>CTT		hypothetical protein LOC165186							40.0	44.0	42.0					2																	29222107		2128	4237	6365	SO:0001583	missense	165186						binding	g.chr2:29222107G>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.200G>T	2.37:g.29222107G>T	ENSP00000368876:p.Arg67Leu					FAM179A_uc010ymm.1_Missense_Mutation_p.R67L	p.R67L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			4	551	+			67					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.200G>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157043	0.38119	.	.	ENSG00000189350	ENST00000420297;ENST00000379558;ENST00000403861	T;T;T	0.47177	0.85;3.17;3.02	5.18	3.31	0.37934	.	.	.	.	.	T	0.28400	0.0702	N	0.14661	0.345	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.15052	0.012;0.008	T	0.13953	-1.0490	9	0.39692	T	0.17	.	6.4271	0.21776	0.0944:0.0:0.7266:0.1791	.	67;67	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	67	ENSP00000402415:R67L;ENSP00000368876:R67L;ENSP00000384699:R67L	ENSP00000368876:R67L	R	+	2	0	FAM179A	29075611	0.004000	0.15560	0.006000	0.13384	0.016000	0.09150	0.164000	0.16542	1.190000	0.43042	0.478000	0.44815	CGT		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		3	20	1	0	6.4e-05	0.004672	7.91091e-05	3	20				
RASGRP3	25780	broad.mit.edu	37	2	33783856	33783856	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:33783856C>A	ENST00000403687.3	+	17	2563	c.1823C>A	c.(1822-1824)gCc>gAc	p.A608D	RASGRP3_ENST00000407811.1_Missense_Mutation_p.A607D|RASGRP3_ENST00000402538.3_Missense_Mutation_p.A608D|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	608					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.A608D(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTACAGAGGGCCACCACCAGC	0.567																																							uc002rox.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(1822-1824)GCC>GAC		RAS guanyl releasing protein 3 (calcium and							56.0	56.0	56.0					2																	33783856		1952	4155	6107	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783856C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1823C>A	2.37:g.33783856C>A	ENSP00000384192:p.Ala608Asp					RASGRP3_uc010ync.1_Missense_Mutation_p.A608D|RASGRP3_uc002roy.2_Missense_Mutation_p.A607D	p.A608D	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			18	2450	+	all_hematologic(175;0.115)		608					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1823C>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149217	0.57151	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.80994	-1.44;-1.44;-1.44	5.45	5.45	0.79879	.	0.059655	0.64402	D	0.000004	T	0.60457	0.2270	N	0.08118	0	0.43103	D	0.994798	P;P	0.38195	0.622;0.622	B;B	0.30029	0.11;0.11	T	0.67337	-0.5696	10	0.49607	T	0.09	-11.3561	12.1497	0.54044	0.0:0.8764:0.0:0.1236	.	607;608	D6W583;Q8IV61	.;GRP3_HUMAN	D	608;608;607	ENSP00000385886:A608D;ENSP00000384192:A608D;ENSP00000383917:A607D	ENSP00000385886:A608D	A	+	2	0	RASGRP3	33637360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.401000	0.52601	2.532000	0.85374	0.650000	0.86243	GCC		0.567	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		7	81	1	0	0.00198382	0.001984	0.0022822	7	81				
ATL2	64225	broad.mit.edu	37	2	38536571	38536571	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:38536571C>G	ENST00000378954.4	-	9	1022	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	ATL2_ENST00000546051.1_Missense_Mutation_p.E170Q|ATL2_ENST00000402054.1_Missense_Mutation_p.E170Q|ATL2_ENST00000419554.2_Missense_Mutation_p.E341Q|ATL2_ENST00000539122.1_Missense_Mutation_p.E170Q|ATL2_ENST00000452935.2_Missense_Mutation_p.E323Q|ATL2_ENST00000406122.1_Missense_Mutation_p.E170Q|ATL2_ENST00000332337.4_Missense_Mutation_p.E323Q	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	341					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.E341Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CCACTTATCTCTTTTTCTACC	0.338																																							uc002rqq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1021-1023)GAG>CAG		atlastin GTPase 2 isoform 2							88.0	88.0	88.0					2																	38536571		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38536571C>G		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1021G>C	2.37:g.38536571C>G	ENSP00000368237:p.Glu341Gln					ATL2_uc010ynm.1_Missense_Mutation_p.E323Q|ATL2_uc010ynn.1_Missense_Mutation_p.E323Q|ATL2_uc010yno.1_Missense_Mutation_p.E170Q|ATL2_uc002rqs.2_Missense_Mutation_p.E341Q|ATL2_uc002rqr.2_Missense_Mutation_p.E170Q	p.E341Q	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			9	1051	-			341			Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1021G>C	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869932	0.72065	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130	T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	6.17	5.29	0.74685	Guanylate-binding protein, N-terminal (1);	0.044268	0.85682	D	0.000000	T	0.72439	0.3460	L	0.52905	1.665	0.80722	D	1	P;B;B;B;B	0.36483	0.555;0.105;0.086;0.354;0.054	B;B;B;B;B	0.42087	0.375;0.033;0.032;0.156;0.048	T	0.66736	-0.5848	10	0.21540	T	0.41	-17.4079	14.0999	0.65049	0.0:0.929:0.0:0.071	.	170;323;323;341;341	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	Q	341;170;170;170;323;341;323;170;159	ENSP00000368237:E341Q;ENSP00000385446:E170Q;ENSP00000384062:E170Q;ENSP00000446192:E170Q;ENSP00000333393:E323Q;ENSP00000415336:E341Q;ENSP00000390743:E323Q;ENSP00000438938:E170Q;ENSP00000409811:E159Q	ENSP00000333393:E323Q	E	-	1	0	ATL2	38390075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.793000	0.62474	2.941000	0.99782	0.655000	0.94253	GAG		0.338	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		4	76	0	0	0	0.000248	0	4	76				
THADA	63892	broad.mit.edu	37	2	43819156	43819156	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:43819156C>A	ENST00000405006.4	-	3	457	c.106G>T	c.(106-108)Gct>Tct	p.A36S	THADA_ENST00000402360.2_Missense_Mutation_p.A36S|THADA_ENST00000403856.1_Missense_Mutation_p.A36S|THADA_ENST00000405975.2_Missense_Mutation_p.A36S|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.A36S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	36								p.A36S(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAAAGAAGCTAGATTTTTC	0.328																																							uc002rsw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(106-108)GCT>TCT		thyroid adenoma associated							60.0	54.0	56.0					2																	43819156		1835	4067	5902	SO:0001583	missense	63892						binding	g.chr2:43819156C>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.106G>T	2.37:g.43819156C>A	ENSP00000385995:p.Ala36Ser					THADA_uc002rsx.3_Missense_Mutation_p.A36S|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.A36S|THADA_uc002rtc.3_Missense_Mutation_p.A36S|THADA_uc002rtd.2_Missense_Mutation_p.A36S	p.A36S	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			3	458	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	36					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.106G>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376640	0.82682	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.49720	2.26;2.26;0.87;0.86;0.77	5.04	5.04	0.67666	.	0.057486	0.64402	D	0.000002	T	0.65657	0.2712	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.996	D;D;D;P	0.74023	0.942;0.921;0.982;0.907	T	0.64795	-0.6323	10	0.45353	T	0.12	-1.5392	16.7404	0.85457	0.0:1.0:0.0:0.0	.	36;36;36;36	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	S	36	ENSP00000386088:A36S;ENSP00000385995:A36S;ENSP00000385441:A36S;ENSP00000384266:A36S;ENSP00000385469:A36S	ENSP00000349464:A36S	A	-	1	0	THADA	43672660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.076000	0.50081	2.622000	0.88805	0.591000	0.81541	GCT		0.328	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		3	5	1	0	0.00024832	0.000248	0.000299041	3	5				
ABCG5	64240	broad.mit.edu	37	2	44065079	44065079	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:44065079G>T	ENST00000260645.1	-	2	298	c.159C>A	c.(157-159)ccC>ccA	p.P53P	ABCG8_ENST00000272286.2_5'Flank|ABCG5_ENST00000543989.1_De_novo_Start_OutOfFrame|ABCG5_ENST00000405322.1_De_novo_Start_OutOfFrame	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	53	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)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|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)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.P53P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGTCCCACCAGGGCCTCACGC	0.587																																							uc002rtn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(157-159)CCC>CCA		ATP-binding cassette sub-family G member 5							78.0	71.0	73.0					2																	44065079		2203	4300	6503	SO:0001819	synonymous_variant	64240				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.chr2:44065079G>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.159C>A	2.37:g.44065079G>T						ABCG5_uc002rto.2_Translation_Start_Site|ABCG5_uc002rtp.2_Translation_Start_Site|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	p.P53P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			2	299	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	53			ABC transporter.|Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.159C>A	CCDS1814.1																																																																																				0.587	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		5	66	1	0	1.23904e-05	0.000602	1.59024e-05	5	66				
ANTXR1	84168	broad.mit.edu	37	2	69271872	69271872	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:69271872A>T	ENST00000303714.4	+	3	546		c.e3-1		ANTXR1_ENST00000409829.3_Splice_Site|ANTXR1_ENST00000409349.3_Splice_Site	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.?(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTCCTTTCCAGCCCACAGTT	0.463									Familial Infantile Hemangioma																														uc002sfg.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|skin(2)	4						c.e3-2		anthrax toxin receptor 1 isoform 1 precursor							162.0	157.0	159.0					2																	69271872		2203	4300	6503	SO:0001630	splice_region_variant	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69271872A>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.225-1A>T	2.37:g.69271872A>T						ANTXR1_uc002sfe.2_Splice_Site_p.S75_splice|ANTXR1_uc002sff.2_Splice_Site_p.S75_splice|ANTXR1_uc002sfd.2_Splice_Site_p.S75_splice	p.S75_splice	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			3	581	+								A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Splice_Site	SNP	ENST00000303714.4	37	c.225_splice	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194544	0.78902	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5064	0.55984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANTXR1	69125376	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.782000	0.75073	2.200000	0.70718	0.460000	0.39030	.		0.463	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	Intron	4	67	0	0	0	0.001168	0	4	67				
TACR1	6869	broad.mit.edu	37	2	75425737	75425737	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:75425737G>C	ENST00000305249.5	-	1	1089	c.324C>G	c.(322-324)caC>caG	p.H108Q	TACR1_ENST00000409848.3_Missense_Mutation_p.H108Q	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	108					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.H108Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GAAAGAAGTTGTGGAACTTGC	0.512																																					Pancreas(64;62 1268 3653 14826 43765)	Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CAC>CAG		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						169.0	148.0	155.0					2																	75425737		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425737G>C	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.324C>G	2.37:g.75425737G>C	ENSP00000303522:p.His108Gln					TACR1_uc002snh.2_Missense_Mutation_p.H108Q	p.H108Q	NM_001058	NP_001049	P25103	NK1R_HUMAN			1	909	-			108			Helical; Name=3; (Potential).		A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.324C>G	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	2.809	-0.247492	0.05867	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.32515	1.45;1.45	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.043640	0.85682	D	0.000000	T	0.16642	0.0400	N	0.05351	-0.065	0.80722	D	1	B	0.20988	0.05	B	0.16722	0.016	T	0.09378	-1.0677	10	0.08837	T	0.75	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	108	P25103	NK1R_HUMAN	Q	108	ENSP00000303522:H108Q;ENSP00000386448:H108Q	ENSP00000303522:H108Q	H	-	3	2	TACR1	75279245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.563000	0.45922	2.854000	0.98071	0.655000	0.94253	CAC		0.512	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		12	56	0	0	0	0.000978	0	12	56				
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:96259801G>C	ENST00000272395.2	+	2	166	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	10						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q10H(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGCCTTCCAGAAGGAACTCA	0.483																																							uc002suv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(28-30)CAG>CAC		tripartite motif-containing 43							118.0	118.0	118.0					2																	96259801		2201	4298	6499	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96259801G>C	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.30G>C	2.37:g.96259801G>C	ENSP00000272395:p.Gln10His						p.Q10H	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			2	166	+			10					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.30G>C	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	8.886	0.952729	0.18431	.	.	ENSG00000144015	ENST00000272395	T	0.17528	2.27	1.46	-0.884	0.10597	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.13286	0.0322	L	0.46885	1.475	0.24069	N	0.995983	P	0.50819	0.939	B	0.42214	0.38	T	0.15752	-1.0426	9	0.66056	D	0.02	-2.5501	3.3585	0.07178	0.1796:0.0:0.5723:0.248	.	10	Q96BQ3	TRI43_HUMAN	H	10	ENSP00000272395:Q10H	ENSP00000272395:Q10H	Q	+	3	2	TRIM43	95623528	0.037000	0.19845	0.009000	0.14445	0.051000	0.14879	0.239000	0.18023	-0.262000	0.09392	0.386000	0.25728	CAG		0.483	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		21	173	0	0	0	0.004656	0	21	173				
SULT1C3	442038	broad.mit.edu	37	2	108875201	108875201	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:108875201T>A	ENST00000329106.2	+	5	538	c.538T>A	c.(538-540)Tcc>Acc	p.S180T	SULT1C3_ENST00000376700.1_Missense_Mutation_p.S180T	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	180					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.S180T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGTTGGCGGGTCCTGGTTTGA	0.453																																							uc010ywo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)TCC>ACC		sulfotransferase family, cytosolic, 1C, member							126.0	135.0	132.0					2																	108875201		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108875201T>A	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.538T>A	2.37:g.108875201T>A	ENSP00000333310:p.Ser180Thr						p.S180T	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			5	538	+			180					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.538T>A	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326707	0.41197	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.83755	-1.76;-1.76	3.1	3.1	0.35709	Sulfotransferase domain (1);	0.123045	0.37012	N	0.002287	D	0.88336	0.6409	M	0.93638	3.44	0.36963	D	0.893455	P	0.41366	0.747	P	0.48334	0.574	D	0.90439	0.4430	10	0.87932	D	0	.	6.9052	0.24305	0.2056:0.0:0.0:0.7944	.	180	Q6IMI6	ST1C3_HUMAN	T	180	ENSP00000333310:S180T;ENSP00000365890:S180T	ENSP00000333310:S180T	S	+	1	0	SULT1C3	108241633	1.000000	0.71417	0.935000	0.37517	0.359000	0.29487	3.825000	0.55730	1.402000	0.46780	0.496000	0.49642	TCC		0.453	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		5	72	0	0	0	0.000602	0	5	72				
RANBP2	5903	broad.mit.edu	37	2	109381205	109381205	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:109381205G>T	ENST00000283195.6	+	20	4336	c.4210G>T	c.(4210-4212)Gtt>Ttt	p.V1404F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1404					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V1404F(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCCAGAGAATGTTCAAGATCG	0.398																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4210-4212)GTT>TTT		RAN binding protein 2							95.0	96.0	95.0					2																	109381205		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381205G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4210G>T	2.37:g.109381205G>T	ENSP00000283195:p.Val1404Phe						p.V1404F	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4336	+			1404					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4210G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232608	0.05983	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.48	-6.37	0.01963	.	.	.	.	.	T	0.15219	0.0367	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32322	-0.9911	9	0.20046	T	0.44	2.0141	12.6999	0.57026	0.2854:0.1001:0.6145:0.0	.	1404	P49792	RBP2_HUMAN	F	1404	ENSP00000283195:V1404F	ENSP00000283195:V1404F	V	+	1	0	RANBP2	108747637	0.000000	0.05858	0.000000	0.03702	0.403000	0.30841	-0.234000	0.09028	-1.720000	0.01380	-1.945000	0.00491	GTT		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	76	1	0	0.000978159	0.000978	0.00114863	9	76				
BCL2L11	10018	broad.mit.edu	37	2	111881467	111881467	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:111881467G>C	ENST00000393256.3	+	2	418	c.145G>C	c.(145-147)Gga>Cga	p.G49R	BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G49R	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	49					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)		p.G49R(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGGCAATCACGGAGGTGAAGG	0.632																																							uc002tgv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GGA>CGA		BCL2-like 11 isoform 1							47.0	52.0	51.0					2																	111881467		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding|protein binding	g.chr2:111881467G>C	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.145G>C	2.37:g.111881467G>C	ENSP00000376943:p.Gly49Arg					BCL2L11_uc002tgt.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgw.1_Intron|BCL2L11_uc002tgx.1_Intron|BCL2L11_uc010fkd.1_Intron|BCL2L11_uc002tgy.1_Intron|BCL2L11_uc002tgz.1_Intron|BCL2L11_uc010fke.1_Intron|BCL2L11_uc002tha.1_Missense_Mutation_p.G49R|BCL2L11_uc002thb.1_Intron|BCL2L11_uc002thc.1_Intron|BCL2L11_uc002thd.1_Intron	p.G49R	NM_138621	NP_619527	O43521	B2L11_HUMAN			2	433	+			49					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.145G>C	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739884	0.15642	.	.	ENSG00000153094	ENST00000432179;ENST00000357757;ENST00000393256;ENST00000393252	T;T;T	0.44881	0.91;0.91;0.91	0.427	0.427	0.16489	.	.	.	.	.	T	0.39436	0.1078	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.974	T	0.34725	-0.9817	8	0.51188	T	0.08	.	.	.	.	.	49;49	O43521-11;O43521	.;B2L11_HUMAN	R	49	ENSP00000411870:G49R;ENSP00000350398:G49R;ENSP00000376943:G49R	ENSP00000350398:G49R	G	+	1	0	BCL2L11	111597938	0.448000	0.25681	0.988000	0.46212	0.925000	0.55904	0.704000	0.25661	0.458000	0.26988	0.467000	0.42956	GGA		0.632	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			6	56	0	0	0	0.001168	0	6	56				
CCDC74A	90557	broad.mit.edu	37	2	132289308	132289308	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:132289308C>A	ENST00000295171.6	+	4	754	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	CCDC74A_ENST00000467992.2_Missense_Mutation_p.L308M|CCDC74A_ENST00000409856.3_Missense_Mutation_p.L140M	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	206								p.L206M(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGGCGGACCTGGAAGAGGA	0.582																																							uc002tta.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(616-618)CTG>ATG		coiled-coil domain containing 74A							68.0	106.0	94.0					2																	132289308		2078	4235	6313	SO:0001583	missense	90557							g.chr2:132289308C>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.616C>A	2.37:g.132289308C>A	ENSP00000295171:p.Leu206Met					CCDC74A_uc002ttb.2_Missense_Mutation_p.L140M	p.L206M	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			4	668	+			206					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.616C>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.816	0.936347	0.18206	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.66460	1.64;1.52;-0.08;-0.21	2.13	-0.185	0.13276	.	0.352416	0.17551	U	0.170175	T	0.72558	0.3475	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.988;0.996	T	0.59663	-0.7412	10	0.66056	D	0.02	-10.6585	2.1954	0.03909	0.304:0.4977:0.0:0.1984	.	140;206	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	M	206;140;135;308	ENSP00000295171:L206M;ENSP00000387009:L140M;ENSP00000406839:L135M;ENSP00000444610:L308M	ENSP00000295171:L206M	L	+	1	2	CCDC74A	132005778	0.563000	0.26594	0.745000	0.31077	0.307000	0.27823	0.404000	0.20999	0.232000	0.21100	0.194000	0.17425	CTG		0.582	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		8	105	1	0	1.08611e-07	0.000978	1.51041e-07	8	105				
LRP1B	53353	broad.mit.edu	37	2	141299393	141299393	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:141299393G>C	ENST00000389484.3	-	44	8313	c.7342C>G	c.(7342-7344)Cat>Gat	p.H2448D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2448					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)	p.H2448D(1)		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)		ATTGGCTGATGTGGAATATCG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7342-7344)CAT>GAT		low density lipoprotein-related protein 1B							165.0	154.0	158.0					2																	141299393		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299393G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7342C>G	2.37:g.141299393G>C	ENSP00000374135:p.His2448Asp	TSP Lung(27;0.18)					p.H2448D	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)	44	8314	-		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)	2448			Extracellular (Potential).|LDL-receptor class B 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7342C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303622	0.60305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89552	-2.53	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.87382	0.6163	N	0.21194	0.64	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	D	0.83779	0.0224	10	0.12103	T	0.63	.	19.2763	0.94032	0.0:0.0:1.0:0.0	.	2448	Q9NZR2	LRP1B_HUMAN	D	2448;2386	ENSP00000374135:H2448D	ENSP00000374135:H2448D	H	-	1	0	LRP1B	141015863	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.808000	0.99193	2.548000	0.85928	0.484000	0.47621	CAT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	132	0	0	0	0.001855	0	12	132				
GCG	2641	broad.mit.edu	37	2	163004007	163004007	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:163004007T>G	ENST00000418842.2	-	3	364	c.110A>C	c.(109-111)cAg>cCg	p.Q37P	GCG_ENST00000375497.3_Missense_Mutation_p.Q37P	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	37					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.Q37P(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGGGTCTGCCTGGGAAGCTGA	0.463																																							uc002ucc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(109-111)CAG>CCG		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						263.0	258.0	259.0					2																	163004007		2019	4181	6200	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163004007T>G		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.110A>C	2.37:g.163004007T>G	ENSP00000387662:p.Gln37Pro						p.Q37P	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	209	-			37					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.110A>C	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183107	0.57800	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.46819	0.86;0.86	5.64	3.22	0.36961	.	0.320800	0.35525	N	0.003141	T	0.40839	0.1133	L	0.55481	1.735	0.38002	D	0.934269	P	0.50369	0.934	B	0.43386	0.418	T	0.43877	-0.9364	10	0.87932	D	0	.	5.0195	0.14354	0.1348:0.1403:0.0:0.7249	.	37	P01275	GLUC_HUMAN	P	37	ENSP00000387662:Q37P;ENSP00000364647:Q37P	ENSP00000364647:Q37P	Q	-	2	0	GCG	162712253	0.996000	0.38824	0.997000	0.53966	0.941000	0.58515	1.307000	0.33516	0.534000	0.28695	0.528000	0.53228	CAG		0.463	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		19	252	0	0	0	0.008871	0	19	252				
SCN1A	6323	broad.mit.edu	37	2	166908495	166908495	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:166908495A>G	ENST00000303395.4	-	6	697	c.698T>C	c.(697-699)cTg>cCg	p.L233P	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.L233P|SCN1A_ENST00000375405.3_Missense_Mutation_p.L233P|SCN1A_ENST00000409050.1_Missense_Mutation_p.L233P			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	233					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.L233P(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGGTTTTCAGGCCTGAAAG	0.378																																							uc010zcz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(697-699)CTG>CCG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						73.0	74.0	74.0					2																	166908495		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908495A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.698T>C	2.37:g.166908495A>G	ENSP00000303540:p.Leu233Pro					SCN1A_uc002udo.3_Missense_Mutation_p.L102P|SCN1A_uc010fpk.2_Missense_Mutation_p.L102P	p.L233P	NM_006920	NP_008851	P35498	SCN1A_HUMAN			6	716	-			233			Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).|I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.698T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294894	0.81025	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	5.41	5.41	0.78517	Ion transport (1);	0.125811	0.35677	N	0.003054	D	0.99677	0.9879	H	0.99668	4.69	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.97110	0.98;1.0;0.981	D	0.97061	0.9771	10	0.87932	D	0	.	15.7322	0.77814	1.0:0.0:0.0:0.0	.	233;233;233	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	P	233	ENSP00000407030:L233P;ENSP00000303540:L233P;ENSP00000364554:L233P;ENSP00000386312:L233P	ENSP00000303540:L233P	L	-	2	0	SCN1A	166616741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.226000	0.95229	2.171000	0.68590	0.533000	0.62120	CTG		0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		3	92	0	0	0	0.004672	0	3	92				
HOXD10	3236	broad.mit.edu	37	2	176981700	176981700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:176981700G>T	ENST00000249501.4	+	1	394	c.139G>T	c.(139-141)Gga>Tga	p.G47*	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	47					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G47*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGGGACCTATGGAATGCAAAC	0.478																																							uc002ukj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(139-141)GGA>TGA		homeobox D10							112.0	114.0	113.0					2																	176981700		2203	4300	6503	SO:0001587	stop_gained	3236					nucleus	sequence-specific DNA binding	g.chr2:176981700G>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.139G>T	2.37:g.176981700G>T	ENSP00000249501:p.Gly47*						p.G47*	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	209	+			47					Q6NT10	Nonsense_Mutation	SNP	ENST00000249501.4	37	c.139G>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	37	6.484005	0.97603	.	.	ENSG00000128710	ENST00000249501	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7484	0.96259	0.0:0.0:1.0:0.0	.	.	.	.	X	47	.	ENSP00000249501:G47X	G	+	1	0	HOXD10	176689946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.758000	0.94735	0.655000	0.94253	GGA		0.478	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			11	101	1	0	1.36491e-13	0.001855	2.20726e-13	11	101				
CCDC141	285025	broad.mit.edu	37	2	179720986	179720986	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:179720986G>T	ENST00000420890.2	-	18	2980	c.2863C>A	c.(2863-2865)Cag>Aag	p.Q955K	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q380K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	955								p.Q380K(1)|p.Q955K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGTTACCTGCATTTTTTCA	0.299																																							uc002unf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1138-1140)CAG>AAG		coiled-coil domain containing 141							113.0	108.0	110.0					2																	179720986		2202	4297	6499	SO:0001583	missense	285025						protein binding	g.chr2:179720986G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2863C>A	2.37:g.179720986G>T	ENSP00000395995:p.Gln955Lys						p.Q380K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		8	1195	-			380			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1138C>A		.	.	.	.	.	.	.	.	.	.	G	27.1	4.802859	0.90623	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.51817	0.82;1.35;1.35;0.69	5.77	5.77	0.91146	.	0.000000	0.52532	D	0.000069	T	0.60261	0.2255	L	0.34521	1.04	0.39277	D	0.964498	D	0.71674	0.998	D	0.85130	0.997	T	0.55673	-0.8104	10	0.30078	T	0.28	-9.9894	19.9785	0.97317	0.0:0.0:1.0:0.0	.	380	Q6ZP82	CC141_HUMAN	K	955;399;380;955	ENSP00000395995:Q955K;ENSP00000344627:Q399K;ENSP00000295723:Q380K;ENSP00000390190:Q955K	ENSP00000295723:Q380K	Q	-	1	0	CCDC141	179429231	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.295000	0.89937	2.724000	0.93272	0.650000	0.86243	CAG		0.299	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		5	60	1	0	0.00116845	0.001168	0.00135799	5	60				
ASNSD1	54529	broad.mit.edu	37	2	190532188	190532188	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:190532188C>A	ENST00000260952.4	+	4	1743	c.1330C>A	c.(1330-1332)Cga>Aga	p.R444R	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	444	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.R444R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAGAAGAACTCGAATATGTCA	0.413																																							uc002uqt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1330-1332)CGA>AGA		asparagine synthetase domain containing 1							126.0	134.0	131.0					2																	190532188		2203	4299	6502	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532188C>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1330C>A	2.37:g.190532188C>A							p.R444R	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1764	+			444			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1330C>A	CCDS2300.1																																																																																				0.413	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	99	1	0	3.59834e-05	0.001168	4.51587e-05	5	99				
SF3B1	23451	broad.mit.edu	37	2	198274523	198274523	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:198274523C>T	ENST00000335508.6	-	7	966	c.875G>A	c.(874-876)aGa>aAa	p.R292K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	292	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R292K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATCCCATCTGTTTTTACG	0.512			Mis		myelodysplastic syndrome																																		uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(874-876)AGA>AAA		splicing factor 3b, subunit 1 isoform 1							304.0	322.0	316.0					2																	198274523		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198274523C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.875G>A	2.37:g.198274523C>T	ENSP00000335321:p.Arg292Lys						p.R292K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	923	-			292			Interaction with PPP1R8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.875G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711782	0.96830	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.61	5.61	0.85477	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	M	0.66560	2.04	0.80722	D	1	P	0.40000	0.698	P	0.50934	0.654	T	0.75819	-0.3183	9	0.87932	D	0	.	19.6419	0.95762	0.0:1.0:0.0:0.0	.	292	O75533	SF3B1_HUMAN	K	292	.	ENSP00000335321:R292K	R	-	2	0	SF3B1	197982768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.640000	0.89533	0.655000	0.94253	AGA		0.512	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			33	434	0	0	0	0.003271	0	33	434				
TRAK2	66008	broad.mit.edu	37	2	202264117	202264117	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:202264117C>T	ENST00000332624.3	-	5	891	c.463G>A	c.(463-465)Gga>Aga	p.G155R	TRAK2_ENST00000430254.1_Missense_Mutation_p.G155R	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	155	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.G155R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AAGGCTTGTCCCAATTGCTCC	0.418																																							uc002uyb.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GGA>AGA		trafficking protein, kinesin binding 2							104.0	97.0	99.0					2																	202264117		2203	4299	6502	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202264117C>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.463G>A	2.37:g.202264117C>T	ENSP00000328875:p.Gly155Arg					TRAK2_uc002uyc.2_Missense_Mutation_p.G155R	p.G155R	NM_015049	NP_055864	O60296	TRAK2_HUMAN			5	909	-			155			Potential.		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.463G>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197305	0.58126	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.17054	2.3;2.3	5.96	5.96	0.96718	.	0.221896	0.41294	D	0.000904	T	0.27967	0.0689	N	0.22421	0.69	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.64877	0.93;0.899	T	0.01889	-1.1253	10	0.20046	T	0.44	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	155;155	E7EV21;O60296	.;TRAK2_HUMAN	R	155;61;155	ENSP00000328875:G155R;ENSP00000409333:G155R	ENSP00000328875:G155R	G	-	1	0	TRAK2	201972362	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.217000	0.58547	2.826000	0.97356	0.655000	0.94253	GGA		0.418	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		7	47	0	0	0	0.001984	0	7	47				
RAPH1	65059	broad.mit.edu	37	2	204305195	204305195	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:204305195G>A	ENST00000319170.5	-	14	3017	c.2718C>T	c.(2716-2718)ccC>ccT	p.P906P	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Silent_p.P958P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	906					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.P906P(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGATGGAGCTGGGCTGCCACT	0.602																																							uc002vad.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2716-2718)CCC>CCT		Ras association and pleckstrin homology domains							71.0	87.0	81.0					2																	204305195		2203	4300	6503	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305195G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2718C>T	2.37:g.204305195G>A							p.P906P	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2943	-			906					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2718C>T	CCDS2359.1																																																																																				0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		13	106	0	0	0	0.001368	0	13	106				
NDUFS1	4719	broad.mit.edu	37	2	206994878	206994878	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:206994878G>A	ENST00000233190.6	-	15	1908	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	NDUFS1_ENST00000449699.1_Silent_p.L548L|NDUFS1_ENST00000432169.1_Silent_p.L437L|NDUFS1_ENST00000440274.1_Silent_p.L512L|NDUFS1_ENST00000423725.1_Silent_p.L491L|NDUFS1_ENST00000455934.2_Silent_p.L562L|NDUFS1_ENST00000457011.1_Silent_p.L432L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	548					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L548L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGCTCCCAGGAGAAACAGC	0.458																																							uc002vbe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1642-1644)CTG>TTG		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						100.0	94.0	96.0					2																	206994878		2203	4300	6503	SO:0001819	synonymous_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206994878G>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1642C>T	2.37:g.206994878G>A						NDUFS1_uc010ziq.1_Silent_p.L562L|NDUFS1_uc010zir.1_Silent_p.L512L|NDUFS1_uc010zis.1_Silent_p.L491L|NDUFS1_uc010zit.1_Silent_p.L437L|NDUFS1_uc010ziu.1_Silent_p.L432L	p.L548L	NM_005006	NP_004997	P28331	NDUS1_HUMAN			15	1769	-			548					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	c.1642C>T	CCDS2366.1																																																																																				0.458	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		7	68	0	0	0	0.001984	0	7	68				
ADAM23	8745	broad.mit.edu	37	2	207435496	207435496	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:207435496C>G	ENST00000264377.3	+	16	1855	c.1527C>G	c.(1525-1527)taC>taG	p.Y509*	ADAM23_ENST00000374415.3_Nonsense_Mutation_p.Y509*|ADAM23_ENST00000374416.1_Nonsense_Mutation_p.Y509*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	509	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)	p.Y509*(2)		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)		GAAATGGATACGTGGAAGCTG	0.413																																					Melanoma(194;1127 2130 19620 24042 27855)	Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1525-1527)TAC>TAG		ADAM metallopeptidase domain 23 preproprotein							222.0	200.0	207.0					2																	207435496		2203	4300	6503	SO:0001587	stop_gained	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207435496C>G	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.1527C>G	2.37:g.207435496C>G	ENSP00000264377:p.Tyr509*					ADAM23_uc010ziv.1_RNA	p.Y509*	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	16	1750	+			509			Disintegrin.|Extracellular (Potential).		A2RU59	Nonsense_Mutation	SNP	ENST00000264377.3	37	c.1527C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	c	34	5.308797	0.95629	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.91	-0.633	0.11519	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	10.6435	0.45606	0.0:0.3162:0.0:0.6838	.	.	.	.	X	509;509;403;509	.	ENSP00000264377:Y509X	Y	+	3	2	ADAM23	207143741	0.905000	0.30787	0.998000	0.56505	0.912000	0.54170	-0.145000	0.10265	-0.065000	0.13021	-0.598000	0.04106	TAC		0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		8	54	0	0	0	0.006214	0	8	54				
GLB1L	79411	broad.mit.edu	37	2	220107620	220107620	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:220107620T>A	ENST00000295759.7	-	4	573	c.260A>T	c.(259-261)cAc>cTc	p.H87L	STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409743.1_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.H87L|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409260.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.H87L|GLB1L_ENST00000497855.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.H87L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	87					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.H87L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGCTCGTGGTAGTTCCA	0.527																																							uc002vkm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)CAC>CTC		galactosidase, beta 1-like precursor							57.0	65.0	62.0					2																	220107620		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220107620T>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.260A>T	2.37:g.220107620T>A	ENSP00000295759:p.His87Leu					GLB1L_uc002vkk.2_5'Flank|GLB1L_uc010zkx.1_Missense_Mutation_p.H87L|GLB1L_uc002vkn.2_Missense_Mutation_p.H87L|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank	p.H87L	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	499	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	87					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.260A>T	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.801369|4.801369	0.90538|0.90538	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.97976|.	-4.64;-4.64;-4.64;-4.64;-4.64|.	6.17|6.17	5.01|5.01	0.66863|0.66863	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78317|0.78317	0.4264|0.4264	M|M	0.87900|0.87900	2.915|2.915	0.35447|0.35447	D|D	0.795344|0.795344	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.97110|.	0.905;1.0|.	D|D	0.85637|0.85637	0.1274|0.1274	10|5	0.72032|.	D|.	0.01|.	-17.936|-17.936	13.7445|13.7445	0.62868|0.62868	0.0:0.0:0.1283:0.8716|0.0:0.0:0.1283:0.8716	.|.	87;87|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	L|S	87|20	ENSP00000295759:H87L;ENSP00000386354:H87L;ENSP00000375939:H87L;ENSP00000348628:H87L;ENSP00000400738:H87L|.	ENSP00000295759:H87L|.	H|T	-|-	2|1	0|0	GLB1L|GLB1L	219815864|219815864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	7.996000|7.996000	0.88334|0.88334	1.137000|1.137000	0.42214|0.42214	0.533000|0.533000	0.62120|0.62120	CAC|ACG		0.527	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		5	55	0	0	0	0.000602	0	5	55				
TRPM8	79054	broad.mit.edu	37	2	234894455	234894455	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:234894455T>G	ENST00000324695.4	+	21	2925	c.2885T>G	c.(2884-2886)aTc>aGc	p.I962S	TRPM8_ENST00000433712.2_Missense_Mutation_p.I540S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	962					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I962S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGTGTGCATCTACATGTTA	0.557																																							uc002vvh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(2884-2886)ATC>AGC		transient receptor potential cation channel,	Menthol(DB00825)						158.0	112.0	127.0					2																	234894455		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234894455T>G	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2885T>G	2.37:g.234894455T>G	ENSP00000323926:p.Ile962Ser					TRPM8_uc010fyj.2_Missense_Mutation_p.I540S|TRPM8_uc010fyk.2_RNA	p.I962S	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	21	2925	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	962			Helical; Name=6; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2885T>G	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661407	0.88154	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	D;D;D	0.98419	-4.92;-4.92;-4.92	5.13	5.13	0.70059	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.98476	0.9492	M	0.64404	1.975	0.32705	N	0.512321	D;D	0.71674	0.998;0.984	D;P	0.72982	0.979;0.773	D	0.99950	1.1524	10	0.87932	D	0	-21.4054	13.7773	0.63062	0.0:0.0:0.0:1.0	.	540;962	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	S	962;540;223	ENSP00000323926:I962S;ENSP00000404423:I540S;ENSP00000414198:I223S	ENSP00000323926:I962S	I	+	2	0	TRPM8	234559194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.817000	0.86213	1.936000	0.56123	0.482000	0.46254	ATC		0.557	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		4	63	0	0	0	0.000248	0	4	63				
COL6A3	1293	broad.mit.edu	37	2	238245036	238245036	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:238245036G>T	ENST00000295550.4	-	40	9159	c.8707C>A	c.(8707-8709)Cca>Aca	p.P2903T	COL6A3_ENST00000346358.4_Missense_Mutation_p.P2703T|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2702T|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2697T|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2296T|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2697T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2903	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2903T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACAGATGGCTGATTTATA	0.572																																							uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8707-8709)CCA>ACA		alpha 3 type VI collagen isoform 1 precursor							130.0	137.0	135.0					2																	238245036		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245036G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8707C>A	2.37:g.238245036G>T	ENSP00000295550:p.Pro2903Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.P2697T|COL6A3_uc010znj.1_Missense_Mutation_p.P2296T|COL6A3_uc002vwj.2_Missense_Mutation_p.P284T	p.P2903T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	8992	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2903			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8707C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	6.580	0.475278	0.12521	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90069	-2.53;-2.61;-2.61;-2.49;-2.61;-2.58	4.88	-0.496	0.12027	.	0.000000	0.48767	D	0.000173	T	0.80008	0.4545	L	0.55834	1.745	0.09310	N	1	B;B;B	0.27498	0.0;0.0;0.18	B;B;B	0.19946	0.0;0.001;0.027	T	0.62520	-0.6837	10	0.19590	T	0.45	.	4.4289	0.11517	0.0913:0.4635:0.2961:0.1491	.	2296;2697;2903	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2903;2702;2697;2296;2697;2703	ENSP00000295550:P2903T;ENSP00000315609:P2702T;ENSP00000315873:P2697T;ENSP00000418285:P2296T;ENSP00000386844:P2697T;ENSP00000295546:P2703T	ENSP00000295550:P2903T	P	-	1	0	COL6A3	237909775	0.493000	0.26035	0.003000	0.11579	0.031000	0.12232	-0.360000	0.07622	0.193000	0.20303	-1.036000	0.02392	CCA		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		12	172	1	0	1.61879e-10	0.001368	2.4368e-10	12	172				
DEFB127	140850	broad.mit.edu	37	20	138186	138186	+	Start_Codon_SNP	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:138186A>C	ENST00000382388.3	+	1	76	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	1					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)		p.M1L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		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)			AAGCCTGGCCATGGGGCTCTT	0.468																																							uc002wcy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>CTG		defensin, beta 127 preproprotein							119.0	100.0	106.0					20																	138186		2203	4300	6503	SO:0001582	initiator_codon_variant	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:138186A>C	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.1A>C	20.37:g.138186A>C	ENSP00000371825:p.Met1Leu						p.M1L	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		1	1	+		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)	1					Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	c.1A>C	CCDS12991.1	.	.	.	.	.	.	.	.	.	.	A	2.198	-0.383736	0.04966	.	.	ENSG00000088782	ENST00000382388	T	0.16457	2.34	3.48	2.38	0.29361	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.24368	-1.0162	8	0.49607	T	0.09	-10.9357	7.8289	0.29332	0.889:0.0:0.111:0.0	.	1	Q9H1M4	DB127_HUMAN	L	1	ENSP00000371825:M1L	ENSP00000371825:M1L	M	+	1	0	DEFB127	86186	0.776000	0.28616	0.009000	0.14445	0.001000	0.01503	1.573000	0.36472	0.215000	0.20761	-1.139000	0.01908	ATG		0.468	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074	Missense_Mutation	3	89	0	0	0	0.004672	0	3	89				
UBOX5	22888	broad.mit.edu	37	20	3102805	3102805	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:3102805C>A	ENST00000217173.2	-	3	951	c.480G>T	c.(478-480)tgG>tgT	p.W160C	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.W160C	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.W160C(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCCCTTTATTCCAGAGCTCCT	0.582																																							uc002whw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(478-480)TGG>TGT		U-box domain containing 5 isoform a							59.0	57.0	58.0					20																	3102805		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102805C>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.480G>T	20.37:g.3102805C>A	ENSP00000217173:p.Trp160Cys					uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.W160C|UBOX5_uc002why.1_Missense_Mutation_p.W160C	p.W160C	NM_014948	NP_055763	O94941	RNF37_HUMAN			3	650	-			160						Missense_Mutation	SNP	ENST00000217173.2	37	c.480G>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789942	0.70337	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.33865	1.39;1.39	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.63022	0.2476	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.66874	-0.5813	10	0.87932	D	0	-7.3863	19.0135	0.92884	0.0:1.0:0.0:0.0	.	160;160;160	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	C	160	ENSP00000217173:W160C;ENSP00000311726:W160C	ENSP00000217173:W160C	W	-	3	0	UBOX5	3050805	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.201000	0.72124	2.477000	0.83638	0.563000	0.77884	TGG		0.582	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		13	62	1	0	1.61879e-10	0.001368	2.4368e-10	13	62				
SPTLC3	55304	broad.mit.edu	37	20	13145412	13145412	+	Silent	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:13145412T>G	ENST00000399002.2	+	12	1831	c.1557T>G	c.(1555-1557)gcT>gcG	p.A519A		NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	519					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A519A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TTTTAGAAGCTCTTGATGAAA	0.438																																							uc002wod.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1555-1557)GCT>GCG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						94.0	86.0	89.0					20																	13145412		1911	4112	6023	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13145412T>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1557T>G	20.37:g.13145412T>G							p.A519A	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			12	1846	+			519					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.1557T>G	CCDS13115.2																																																																																				0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		3	20	0	0	0	0.004672	0	3	20				
ESF1	51575	broad.mit.edu	37	20	13756763	13756763	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:13756763C>A	ENST00000202816.1	-	3	898	c.791G>T	c.(790-792)aGa>aTa	p.R264I		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R264I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						aCCTGAAGCTCTACCAACACT	0.408																																							uc002woj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)AGA>ATA		ABT1-associated protein							219.0	173.0	189.0					20																	13756763		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13756763C>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.791G>T	20.37:g.13756763C>A	ENSP00000202816:p.Arg264Ile					ESF1_uc002wok.1_Missense_Mutation_p.R264I	p.R264I	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			3	899	-			264					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.791G>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169575	0.38315	.	.	ENSG00000089048	ENST00000202816	T	0.24151	1.87	3.81	2.84	0.33178	.	0.663200	0.14413	N	0.321173	T	0.22126	0.0533	L	0.27053	0.805	0.26258	N	0.978615	P	0.46395	0.877	P	0.45037	0.467	T	0.06463	-1.0825	10	0.42905	T	0.14	.	12.3559	0.55176	0.0:0.9131:0.0:0.0869	.	264	Q9H501	ESF1_HUMAN	I	264	ENSP00000202816:R264I	ENSP00000202816:R264I	R	-	2	0	ESF1	13704763	0.000000	0.05858	0.010000	0.14722	0.067000	0.16453	0.604000	0.24164	1.156000	0.42514	0.591000	0.81541	AGA		0.408	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		18	114	1	0	2.48551e-13	0.00499	4.00797e-13	18	114				
BPIFB2	80341	broad.mit.edu	37	20	31609550	31609550	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:31609550C>G	ENST00000170150.3	+	15	1475	c.1280C>G	c.(1279-1281)gCc>gGc	p.A427G		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	427						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.A427G(1)									ATGGGAATTGCCCTCCCTGGT	0.567																																							uc002wyj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1279-1281)GCC>GGC		bactericidal/permeability-increasing							162.0	147.0	152.0					20																	31609550		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31609550C>G	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1280C>G	20.37:g.31609550C>G	ENSP00000170150:p.Ala427Gly						p.A427G	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			15	1474	+			427					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1280C>G	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	4.506	0.093963	0.08632	.	.	ENSG00000078898	ENST00000170150	T	0.07114	3.22	4.49	1.29	0.21616	.	0.765913	0.11520	N	0.555796	T	0.04952	0.0133	N	0.14661	0.345	0.22762	N	0.998769	B	0.10296	0.003	B	0.10450	0.005	T	0.41070	-0.9529	10	0.40728	T	0.16	-5.6148	6.3952	0.21609	0.0:0.5367:0.3582:0.105	.	427	Q8N4F0	BPIB2_HUMAN	G	427	ENSP00000170150:A427G	ENSP00000170150:A427G	A	+	2	0	BPIFB2	31073211	0.019000	0.18553	0.602000	0.28890	0.179000	0.23085	0.736000	0.26130	0.174000	0.19809	0.557000	0.71058	GCC		0.567	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		21	87	0	0	0	0.002299	0	21	87				
TOP1	7150	broad.mit.edu	37	20	39746848	39746848	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:39746848G>A	ENST00000361337.2	+	18	2112	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	621					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R621H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TCTTATAACCGTGCCAATCGA	0.423			T	NUP98	AML*																																		uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1861-1863)CGT>CAT		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						98.0	81.0	87.0					20																	39746848		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39746848G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1862G>A	20.37:g.39746848G>A	ENSP00000354522:p.Arg621His					uc002xjn.1_Intron	p.R621H	NM_003286	NP_003277	P11387	TOP1_HUMAN			18	2108	+		Myeloproliferative disorder(115;0.00878)	621					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.1862G>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045802	0.93685	.	.	ENSG00000198900	ENST00000361337	T	0.44083	0.93	5.96	5.96	0.96718	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.67995	-0.5526	10	0.49607	T	0.09	-9.4887	20.4192	0.99033	0.0:0.0:1.0:0.0	.	621	P11387	TOP1_HUMAN	H	621	ENSP00000354522:R621H	ENSP00000354522:R621H	R	+	2	0	TOP1	39180262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CGT		0.423	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			9	41	0	0	0	0.004482	0	9	41				
CHD6	84181	broad.mit.edu	37	20	40161981	40161981	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:40161981C>T	ENST00000373233.3	-	3	439	c.262G>A	c.(262-264)Gga>Aga	p.G88R	CHD6_ENST00000373222.3_Missense_Mutation_p.G123R|CHD6_ENST00000309279.7_Missense_Mutation_p.G88R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	88	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G88R(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGTACCTCCTCCTCCACTG	0.507																																							uc002xka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(262-264)GGA>AGA		chromodomain helicase DNA binding protein 6							136.0	121.0	126.0					20																	40161981		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40161981C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.262G>A	20.37:g.40161981C>T	ENSP00000362330:p.Gly88Arg					CHD6_uc002xkd.2_Missense_Mutation_p.G66R|CHD6_uc002xkc.2_Missense_Mutation_p.G123R	p.G88R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			3	440	-		Myeloproliferative disorder(115;0.00425)	88			Poly-Gly.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.262G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451432	0.26074	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;D	0.94966	-2.02;-3.57;-1.57	5.63	4.45	0.53987	.	0.100131	0.44688	N	0.000440	D	0.88239	0.6383	N	0.20986	0.625	0.34576	D	0.713995	B;B	0.23249	0.082;0.006	B;B	0.25140	0.058;0.011	D	0.84336	0.0524	10	0.11794	T	0.64	-9.7494	11.5826	0.50900	0.0:0.8892:0.0:0.1108	.	123;88	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	R	88;88;123;88	ENSP00000362330:G88R;ENSP00000308684:G88R;ENSP00000362319:G123R	ENSP00000308684:G88R	G	-	1	0	CHD6	39595395	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	4.139000	0.58024	1.038000	0.40049	0.650000	0.86243	GGA		0.507	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			11	138	0	0	0	0.008291	0	11	138				
SERINC3	10955	broad.mit.edu	37	20	43142612	43142613	+	Missense_Mutation	DNP	CC	CC	AA	rs201041892|rs369161822		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:43142612_43142613CC>AA	ENST00000342374.4	-	2	265_266	c.108_109GG>TT	c.(106-111)acGGtg>acTTtg	p.V37L	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.V37L|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	37					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.V37L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGGCGAGTCACCGTGGAATTCT	0.47																																							uc002xme.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(106-111)ACGGTG>ACTTTG		tumor differentially expressed protein 1																																				SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43142612_43142613CC>AA	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.108_109delinsAA	20.37:g.43142612_43142613delinsAA	ENSP00000340243:p.Val37Leu					SERINC3_uc002xmf.1_Missense_Mutation_p.V37L|SERINC3_uc010ggs.1_Missense_Mutation_p.V30L|SERINC3_uc010zwp.1_5'UTR	p.V37L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		2	242_243	-		Myeloproliferative disorder(115;0.0122)	37			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	DNP	ENST00000342374.4	37	c.108_109GG>TT	CCDS13333.1																																																																																				0.470	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		9	99	0	0	0	0.004672	0	9	99				
ZNF335	63925	broad.mit.edu	37	20	44590736	44590736	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:44590736C>A	ENST00000322927.2	-	10	1719	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L	ZNF335_ENST00000426788.1_Missense_Mutation_p.R385L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	540					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)	p.R540L(1)		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)				AGCGGCGTGCCGAATGACGTC	0.627																																							uc002xqw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1618-1620)CGG>CTG		zinc finger protein 335							155.0	123.0	134.0					20																	44590736		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44590736C>A	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.1619G>T	20.37:g.44590736C>A	ENSP00000325326:p.Arg540Leu					ZNF335_uc010zxk.1_Missense_Mutation_p.R385L	p.R540L	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			10	1742	-		Myeloproliferative disorder(115;0.0122)	540			C2H2-type 4.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1619G>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244187	0.79912	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.28454	1.61;1.61	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139560	0.49305	D	0.000157	T	0.43166	0.1235	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.987	T	0.24548	-1.0157	10	0.37606	T	0.19	-27.5599	17.1652	0.86814	0.0:1.0:0.0:0.0	.	385;540	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	L	540;317;385	ENSP00000325326:R540L;ENSP00000397098:R385L	ENSP00000243961:R317L	R	-	2	0	ZNF335	44024143	1.000000	0.71417	0.838000	0.33150	0.363000	0.29612	7.210000	0.77924	2.526000	0.85167	0.491000	0.48974	CGG		0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		13	65	1	0	9.31168e-06	0.001855	1.20604e-05	13	65				
PSMA7	5688	broad.mit.edu	37	20	60715998	60715998	+	Silent	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:60715998A>T	ENST00000370873.4	-	2	225	c.99T>A	c.(97-99)gtT>gtA	p.V33V	PSMA7_ENST00000370861.1_5'UTR|SS18L1_ENST00000421564.1_5'Flank|PSMA7_ENST00000484488.1_5'UTR|SS18L1_ENST00000331758.3_5'Flank|PSMA7_ENST00000370858.3_Silent_p.V33V	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	33					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)	p.V33V(1)		large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCGAACACCAACCTTTAATT	0.473																																							uc002ybx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)GTT>GTA		proteasome alpha 7 subunit							193.0	145.0	161.0					20																	60715998		2203	4300	6503	SO:0001819	synonymous_variant	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60715998A>T	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.99T>A	20.37:g.60715998A>T						PSMA7_uc002yby.1_RNA|SS18L1_uc011aaa.1_5'Flank|SS18L1_uc002ybz.1_5'Flank|SS18L1_uc002yca.1_5'Flank|SS18L1_uc002ycb.2_5'Flank	p.V33V	NM_002792	NP_002783	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		2	214	-	Breast(26;3.97e-09)		33					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Silent	SNP	ENST00000370873.4	37	c.99T>A	CCDS13489.1																																																																																				0.473	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		5	90	0	0	0	0.001168	0	5	90				
OSBPL2	9885	broad.mit.edu	37	20	60864347	60864347	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:60864347C>T	ENST00000313733.3	+	12	1412	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Silent_p.L392L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	404					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.L404L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGACTGCCGCCTGCGCCCTGA	0.607																																							uc002yck.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1210-1212)CTG>TTG		oxysterol-binding protein-like protein 2 isoform							64.0	50.0	55.0					20																	60864347		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60864347C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1210C>T	20.37:g.60864347C>T						OSBPL2_uc002ycl.1_Silent_p.L392L|OSBPL2_uc011aah.1_Intron	p.L404L	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		12	1412	+	Breast(26;7.76e-09)		404					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.1210C>T	CCDS13495.1																																																																																				0.607	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		3	19	0	0	0	0.000248	0	3	19				
C20orf166	128826	broad.mit.edu	37	20	61167750	61167750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:61167750C>A	ENST00000370527.3	+	4	999	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	C20orf166_ENST00000370524.2_Missense_Mutation_p.P56T|C20orf166_ENST00000370523.1_Missense_Mutation_p.P56T	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166									p.P74T(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TCAGCCCCAGCCCCACAGTGC	0.522																																							uc011aaj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(220-222)CCC>ACC		hypothetical protein LOC128826							52.0	55.0	54.0					20																	61167750		2019	4169	6188	SO:0001583	missense	128826							g.chr20:61167750C>A	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"""MIR133A2 host gene"""						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.220C>A	20.37:g.61167750C>A	ENSP00000359558:p.Pro74Thr						p.P74T	NM_178463	NP_848558	Q9H1L0	CT166_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		4	999	+	Breast(26;1.04e-08)		74						Missense_Mutation	SNP	ENST00000370527.3	37	c.220C>A	CCDS46627.1	.	.	.	.	.	.	.	.	.	.	C	5.398	0.258703	0.10239	.	.	ENSG00000174407	ENST00000370527;ENST00000370524;ENST00000370523	T;T;T	0.39787	1.06;1.06;1.06	1.06	0.0652	0.14356	.	.	.	.	.	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	P	0.52061	0.95	P	0.45660	0.489	T	0.11397	-1.0589	9	0.87932	D	0	.	3.1654	0.06534	0.0:0.6843:0.0:0.3157	.	74	Q9H1L0	CT166_HUMAN	T	74;56;56	ENSP00000359558:P74T;ENSP00000359555:P56T;ENSP00000359554:P56T	ENSP00000359554:P56T	P	+	1	0	C20orf166	60578195	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-0.693000	0.05121	0.024000	0.15214	0.313000	0.20887	CCC		0.522	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		13	53	1	0	7.03913e-09	0.001368	1.02158e-08	13	53				
ZNF512B	57473	broad.mit.edu	37	20	62592741	62592741	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:62592741T>G	ENST00000450537.1	-	16	2408	c.2348A>C	c.(2347-2349)aAg>aCg	p.K783T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K783T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K783T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K783T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAGCGGTACTTCCCTGCCAG	0.602																																							uc002yhl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2347-2349)AAG>ACG		zinc finger protein 512B							97.0	86.0	90.0					20																	62592741		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62592741T>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2348A>C	20.37:g.62592741T>G	ENSP00000393795:p.Lys783Thr						p.K783T	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			16	2402	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		783					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2348A>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678135	0.47886	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27557	1.66;1.66;1.66	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.64404	1.975	0.51482	D	0.999929	D	0.89917	1.0	D	0.83275	0.996	T	0.54437	-0.8294	10	0.54805	T	0.06	-26.9513	15.1094	0.72343	0.0:0.0:0.0:1.0	.	783	Q96KM6	Z512B_HUMAN	T	783	ENSP00000358904:K783T;ENSP00000393795:K783T;ENSP00000217130:K783T	ENSP00000217130:K783T	K	-	2	0	ZNF512B	62063185	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.979000	0.63806	1.981000	0.57761	0.482000	0.46254	AAG		0.602	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		4	63	0	0	0	0.000248	0	4	63				
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T	rs369585750	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.001		0.0	False		,,,				2504	0.0						uc002ylp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GCG>GTG		junctional adhesion molecule 2 precursor		C	VAL/ALA	3,3919		0,3,1958	167.0	168.0	167.0		311	5.6	1.0	21		167	0,8280		0,0,4140	no	missense	JAM2	NM_021219.2	64	0,3,6098	TT,TC,CC		0.0,0.0765,0.0246	probably-damaging	104/299	27066137	3,12199	1961	4140	6101	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066137C>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.311C>T	21.37:g.27066137C>T	ENSP00000420419:p.Ala104Val					JAM2_uc011ace.1_Missense_Mutation_p.A104V|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.A68V|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.A104V|JAM2_uc010gli.1_Missense_Mutation_p.A104V	p.A104V	NM_021219	NP_067042	P57087	JAM2_HUMAN			4	856	+			104			Ig-like V-type.|Extracellular (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.311C>T	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	JAM2	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG		0.388	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			14	96	0	0	0	0.001855	0	14	96				
ADAMTS1	9510	broad.mit.edu	37	21	28212681	28212681	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:28212681G>C	ENST00000284984.3	-	5	2033	c.1579C>G	c.(1579-1581)Ccg>Gcg	p.P527A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	527	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P527A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCCGCCCACGGGAAGTGTTTG	0.532																																							uc002ymf.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1579-1581)CCG>GCG		ADAM metallopeptidase with thrombospondin type 1							85.0	73.0	77.0					21																	28212681		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212681G>C	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1579C>G	21.37:g.28212681G>C	ENSP00000284984:p.Pro527Ala						p.P527A	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	2034	-		Breast(209;0.000962)	527			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1579C>G	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811567	0.90707	.	.	ENSG00000154734	ENST00000284984	T	0.68624	-0.34	5.12	5.12	0.69794	ADAM, cysteine-rich (1);	.	.	.	.	D	0.82586	0.5069	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82589	-0.0382	9	0.49607	T	0.09	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	527	Q9UHI8	ATS1_HUMAN	A	527	ENSP00000284984:P527A	ENSP00000284984:P527A	P	-	1	0	ADAMTS1	27134552	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.208000	0.95075	2.820000	0.97059	0.650000	0.86243	CCG		0.532	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			4	45	0	0	0	0.000248	0	4	45				
CLDN8	9073	broad.mit.edu	37	21	31587816	31587816	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:31587816G>T	ENST00000399899.1	-	1	575	c.428C>A	c.(427-429)gCc>gAc	p.A143D	CLDN8_ENST00000286809.1_Missense_Mutation_p.A143D	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	143					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A143D(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TCTGATGATGGCATTGGCAAC	0.488																																							uc002ynu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCC>GAC		claudin 8							84.0	79.0	80.0					21																	31587816		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31587816G>T	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.428C>A	21.37:g.31587816G>T	ENSP00000382783:p.Ala143Asp						p.A143D	NM_199328	NP_955360	P56748	CLD8_HUMAN			1	503	-			143			Extracellular (Potential).		D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.428C>A	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028316	0.35797	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.89270	-2.49;-2.49	4.84	3.93	0.45458	.	0.577462	0.18349	N	0.143938	T	0.79540	0.4463	N	0.17723	0.515	0.25260	N	0.989605	B	0.21225	0.053	B	0.29440	0.102	T	0.63545	-0.6613	10	0.13853	T	0.58	.	9.0194	0.36191	0.0:0.1408:0.579:0.2802	.	143	P56748	CLD8_HUMAN	D	143	ENSP00000382783:A143D;ENSP00000286809:A143D	ENSP00000286809:A143D	A	-	2	0	CLDN8	30509687	0.852000	0.29690	0.936000	0.37596	0.995000	0.86356	1.206000	0.32321	1.367000	0.46095	0.650000	0.86243	GCC		0.488	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		5	22	1	0	1.26484e-09	0.00308	1.86433e-09	5	22				
KRTAP19-7	337974	broad.mit.edu	37	21	31933420	31933420	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:31933420A>G	ENST00000334849.2	-	1	213	c.189T>C	c.(187-189)taT>taC	p.Y63Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	63						intermediate filament (GO:0005882)		p.Y63Y(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TATTTATTCAATAGAATCCAG	0.423																																							uc011adb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)TAT>TAC		keratin associated protein 19-7							95.0	106.0	102.0					21																	31933420		2203	4300	6503	SO:0001819	synonymous_variant	337974					intermediate filament		g.chr21:31933420A>G	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.189T>C	21.37:g.31933420A>G							p.Y63Y	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	189	-			63					Q08EP7	Silent	SNP	ENST00000334849.2	37	c.189T>C	CCDS13599.1																																																																																				0.423	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			10	179	0	0	0	0.008291	0	10	179				
KRTAP8-1	337879	broad.mit.edu	37	21	32185435	32185435	+	Missense_Mutation	SNP	T	T	A	rs530553975		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:32185435T>A	ENST00000329621.4	-	1	135	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	35	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)		p.Y35F(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CACTGGAGAGTAGGTGCTGCC	0.572																																							uc002you.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TAC>TTC		keratin associated protein 8-1							90.0	78.0	82.0					21																	32185435		2203	4300	6503	SO:0001583	missense	337879					intermediate filament		g.chr21:32185435T>A	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.104A>T	21.37:g.32185435T>A	ENSP00000332805:p.Tyr35Phe						p.Y35F	NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN			1	136	-			35			12 X 2 AA repeats of G-[YCGS].		Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	c.104A>T	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679745	0.47886	.	.	ENSG00000183640	ENST00000329621	T	0.13538	2.58	5.42	2.86	0.33363	.	0.129015	0.35677	N	0.003054	T	0.08935	0.0221	.	.	.	0.27394	N	0.955052	B	0.14438	0.01	B	0.14023	0.01	T	0.20605	-1.0270	9	0.35671	T	0.21	1.0358	7.8161	0.29260	0.3341:0.0:0.0:0.6659	.	35	Q8IUC2	KRA81_HUMAN	F	35	ENSP00000332805:Y35F	ENSP00000332805:Y35F	Y	-	2	0	KRTAP8-1	31107306	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	0.414000	0.21164	0.973000	0.38340	0.455000	0.32223	TAC		0.572	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			14	45	0	0	0	0.001855	0	14	45				
ITSN1	6453	broad.mit.edu	37	21	35183319	35183319	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:35183319G>C	ENST00000381318.3	+	21	2648	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	ITSN1_ENST00000379960.5_Missense_Mutation_p.G782A|ITSN1_ENST00000399353.1_Missense_Mutation_p.G745A|ITSN1_ENST00000399338.4_Missense_Mutation_p.G782A|ITSN1_ENST00000399349.1_Missense_Mutation_p.G782A|ITSN1_ENST00000399367.3_Missense_Mutation_p.G782A|ITSN1_ENST00000399352.1_Missense_Mutation_p.G782A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.G782A|ITSN1_ENST00000399355.2_Missense_Mutation_p.G787A|ITSN1_ENST00000399326.3_Missense_Mutation_p.G782A|ITSN1_ENST00000381285.4_Missense_Mutation_p.G787A|ITSN1_ENST00000381291.4_Missense_Mutation_p.G787A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	787	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G787A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGGCTTGGAGGAGAATTAAAA	0.463																																							uc002yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2359-2361)GGA>GCA		intersectin 1 isoform ITSN-l							88.0	102.0	98.0					21																	35183319		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183319G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2360G>C	21.37:g.35183319G>C	ENSP00000370719:p.Gly787Ala					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G782A|ITSN1_uc010gmg.2_Missense_Mutation_p.G745A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G787A|ITSN1_uc010gmi.2_Missense_Mutation_p.G750A|ITSN1_uc010gmj.2_Missense_Mutation_p.G666A|ITSN1_uc002ysy.2_Missense_Mutation_p.G782A|ITSN1_uc002ysx.2_Missense_Mutation_p.G745A|ITSN1_uc002ytb.1_Missense_Mutation_p.G782A|ITSN1_uc002ytc.1_Missense_Mutation_p.G782A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G750A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G782A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G721A|ITSN1_uc002ytf.1_RNA	p.G787A	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			21	2628	+			787			SH3 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2360G>C	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.169104|5.169104	0.94768|0.94768	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960|ENST00000440794	T;T;T;T;T;T;T;T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Src homology-3 domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77505|0.77505	0.4140|0.4140	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.99;1.0;1.0;0.99;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.989;0.999;0.999;0.989;1.0;0.999;0.999|.	T|T	0.74325|0.74325	-0.3702|-0.3702	10|5	0.87932|.	D|.	0|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	750;750;745;782;787;782;782;787;782;745|.	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0|.	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.|.	A|S	745;787;787;787;787;782;782;782;787;782;782;782;782;782|21	ENSP00000382290:G745A;ENSP00000370719:G787A;ENSP00000370691:G787A;ENSP00000370685:G787A;ENSP00000382301:G782A;ENSP00000382289:G782A;ENSP00000382292:G787A;ENSP00000382286:G782A;ENSP00000382275:G782A;ENSP00000387377:G782A;ENSP00000382265:G782A;ENSP00000369294:G782A|.	ENSP00000369294:G782A|.	G|R	+|+	2|3	0|2	ITSN1|ITSN1	34105189|34105189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.441000|9.441000	0.97557|0.97557	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGA|AGG		0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		49	140	0	0	0	0.00361	0	49	140				
PSMG1	8624	broad.mit.edu	37	21	40550484	40550484	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:40550484G>A	ENST00000331573.3	-	5	1011	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PSMG1_ENST00000380900.2_Silent_p.G161G	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	182					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.G182G(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				AAGGAAGGCTGCCGGTGGATT	0.423																																							uc002yxi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)GGC>GGT		Down syndrome critical region protein 2 isoform							114.0	116.0	115.0					21																	40550484		2203	4300	6503	SO:0001819	synonymous_variant	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40550484G>A	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.546C>T	21.37:g.40550484G>A						PSMG1_uc002yxj.2_Silent_p.G161G|PSMG1_uc010gob.2_Silent_p.G95G	p.G182G	NM_003720	NP_003711	O95456	PSMG1_HUMAN			5	675	-		Prostate(19;8.44e-08)	182					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Silent	SNP	ENST00000331573.3	37	c.546C>T	CCDS13660.1																																																																																				0.423	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		13	116	0	0	0	0.00245	0	13	116				
ABCG1	9619	broad.mit.edu	37	21	43705992	43705992	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:43705992T>C	ENST00000361802.2	+	8	1006	c.861T>C	c.(859-861)ctT>ctC	p.L287L	ABCG1_ENST00000398437.1_Silent_p.L433L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.L289L|ABCG1_ENST00000398449.3_Silent_p.L287L|ABCG1_ENST00000347800.2_Silent_p.L284L|ABCG1_ENST00000340588.4_Silent_p.L395L|ABCG1_ENST00000343687.3_Silent_p.L298L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	287	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.L289L(1)|p.L287L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TTTTCCAGCTTTACGTCCTGA	0.483																																							uc002zaq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(859-861)CTT>CTC		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						213.0	215.0	214.0					21																	43705992		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43705992T>C	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.861T>C	21.37:g.43705992T>C						ABCG1_uc002zan.2_Silent_p.L289L|ABCG1_uc002zam.2_Silent_p.L265L|ABCG1_uc002zao.2_Silent_p.L284L|ABCG1_uc002zap.2_Silent_p.L287L|ABCG1_uc002zar.2_Silent_p.L298L|ABCG1_uc011aev.1_Silent_p.L298L|ABCG1_uc010gpb.1_5'UTR	p.L287L	NM_004915	NP_004906	P45844	ABCG1_HUMAN			8	967	+			287			Cytoplasmic (Potential).|ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.861T>C	CCDS13682.1																																																																																				0.483	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		9	237	0	0	0	0.006214	0	9	237				
PDE9A	5152	broad.mit.edu	37	21	44151935	44151935	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:44151935G>A	ENST00000291539.6	+	5	378	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398225.3_Silent_p.L65L|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Silent_p.L80L|PDE9A_ENST00000398232.3_Silent_p.L39L|PDE9A_ENST00000398224.3_Intron|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	106					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.L106L(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AGAGACCACTGAGGGACAGAC	0.582																																							uc002zbm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)CTG>CTA		phosphodiesterase 9A isoform a							72.0	77.0	75.0					21																	44151935		2203	4300	6503	SO:0001819	synonymous_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44151935G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.318G>A	21.37:g.44151935G>A						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Silent_p.L65L|PDE9A_uc002zcb.2_Silent_p.L80L|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Silent_p.L39L|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR	p.L106L	NM_002606	NP_002597	O76083	PDE9A_HUMAN			5	381	+			106					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	c.318G>A	CCDS13690.1																																																																																				0.582	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	89	0	0	0	0.001368	0	11	89				
FTCD	10841	broad.mit.edu	37	21	47571634	47571634	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:47571634C>A	ENST00000291670.5	-	5	517	c.474G>T	c.(472-474)tgG>tgT	p.W158C	FTCD_ENST00000397746.3_Missense_Mutation_p.W158C|FTCD_ENST00000359679.2_Missense_Mutation_p.W158C|FTCD_ENST00000397743.1_Missense_Mutation_p.W158C|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.W158C|FTCD_ENST00000397748.1_Missense_Mutation_p.W158C	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	158	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.W158C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	AGTCGGGCGCCCAGTCGGCCT	0.672																																							uc002zif.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(472-474)TGG>TGT		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						40.0	52.0	48.0					21																	47571634		2202	4300	6502	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571634C>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.474G>T	21.37:g.47571634C>A	ENSP00000291670:p.Trp158Cys					FTCD_uc002zig.2_Missense_Mutation_p.W158C|FTCD_uc002zih.2_Missense_Mutation_p.W158C|FTCD_uc010gqf.2_Missense_Mutation_p.W158C|FTCD_uc010gqg.1_Missense_Mutation_p.W27C	p.W158C	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	518	-	Breast(49;0.214)		158			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.474G>T	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612020	0.66672	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.137134	0.53938	D	0.000060	D	0.93278	0.7858	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.95826	0.8854	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	158;158;158	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	C	158	ENSP00000291670:W158C;ENSP00000380856:W158C;ENSP00000352707:W158C;ENSP00000347545:W158C;ENSP00000380854:W158C;ENSP00000380851:W158C	ENSP00000291670:W158C	W	-	3	0	FTCD	46396062	1.000000	0.71417	0.983000	0.44433	0.434000	0.31775	5.882000	0.69714	2.073000	0.62155	0.591000	0.81541	TGG		0.672	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		10	35	1	0	2.17888e-05	0.006214	2.78385e-05	10	35				
ZNF280A	129025	broad.mit.edu	37	22	22869861	22869861	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:22869861G>C	ENST00000302097.3	-	2	346	c.94C>G	c.(94-96)Ctg>Gtg	p.L32V	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L32V(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACATAGATCAGATCTGGATCT	0.378																																							uc002zwe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)CTG>GTG		zinc finger protein 280A							147.0	126.0	133.0					22																	22869861		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869861G>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.94C>G	22.37:g.22869861G>C	ENSP00000302855:p.Leu32Val					LOC96610_uc011aim.1_Intron	p.L32V	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	347	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	32						Missense_Mutation	SNP	ENST00000302097.3	37	c.94C>G	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014140	0.19277	.	.	ENSG00000169548	ENST00000302097	T	0.01572	4.76	3.8	-0.736	0.11133	.	.	.	.	.	T	0.01092	0.0036	N	0.24115	0.695	0.09310	N	1	P	0.37636	0.603	B	0.28385	0.089	T	0.48980	-0.8986	9	0.35671	T	0.21	-3.1971	3.757	0.08589	0.3325:0.1995:0.468:0.0	.	32	P59817	Z280A_HUMAN	V	32	ENSP00000302855:L32V	ENSP00000302855:L32V	L	-	1	2	ZNF280A	21199861	0.002000	0.14202	0.001000	0.08648	0.108000	0.19459	0.067000	0.14510	-0.036000	0.13669	0.650000	0.86243	CTG		0.378	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		3	98	0	0	0	0.004672	0	3	98				
MYO18B	84700	broad.mit.edu	37	22	26423257	26423257	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:26423257G>T	ENST00000407587.2	+	43	7489	c.7320G>T	c.(7318-7320)gtG>gtT	p.V2440V	MYO18B_ENST00000335473.7_Silent_p.V2439V|MYO18B_ENST00000536101.1_Silent_p.V2439V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2439						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V2440V(1)		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						AGACCAAAGTGGACTTCGATG	0.562																																							uc003abz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7315-7317)GTG>GTT		myosin XVIIIB							124.0	126.0	125.0					22																	26423257		2016	4171	6187	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423257G>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.7320G>T	22.37:g.26423257G>T						MYO18B_uc003aca.1_Silent_p.V2320V|MYO18B_uc010guy.1_Silent_p.V2321V|MYO18B_uc010guz.1_Silent_p.V2319V|MYO18B_uc011aka.1_Silent_p.V1593V|MYO18B_uc011akb.1_Silent_p.V1952V|MYO18B_uc010gva.1_Silent_p.V422V|MYO18B_uc010gvb.1_RNA	p.V2439V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7567	+			2439					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7317G>T		.	.	.	.	.	.	.	.	.	.	G	0.820	-0.748862	0.03065	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.27	3.05	0.35203	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17228	-1.0376	4	.	.	.	.	3.682	0.08313	0.0908:0.2362:0.5239:0.149	.	.	.	.	L	389	.	.	W	+	2	0	MYO18B	24753257	0.998000	0.40836	0.832000	0.32986	0.163000	0.22366	0.330000	0.19715	1.214000	0.43395	0.561000	0.74099	TGG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	95	1	0	3.41278e-10	0.00499	5.08325e-10	13	95				
FANCD2	2177	broad.mit.edu	37	3	10106096	10106096	+	Silent	SNP	C	C	T	rs138189144	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:10106096C>T	ENST00000419585.1	+	22	2165	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	FANCD2_ENST00000287647.3_Silent_p.S668S|FANCD2_ENST00000383807.1_Silent_p.S668S|FANCD2_ENST00000383806.1_Silent_p.S668S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	668					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S668S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAGTGGACTCCTGTGTTGTTC	0.448			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2002-2004)TCC>TCT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							250.0	231.0	237.0					3																	10106096		2203	4300	6503	SO:0001819	synonymous_variant	2177	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10106096C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2004C>T	3.37:g.10106096C>T						FANCD2_uc003bux.1_Silent_p.S668S|FANCD2_uc003buy.1_Silent_p.S668S|FANCD2_uc010hcw.1_RNA	p.S668S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2082	+			668					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2004C>T	CCDS33696.1																																																																																				0.448	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	312	0	0	0	0.00245	0	5	312				
BTD	686	broad.mit.edu	37	3	15677058	15677058	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:15677058T>A	ENST00000303498.5	+	2	281	c.172T>A	c.(172-174)Tat>Aat	p.Y58N	BTD_ENST00000437172.1_Missense_Mutation_p.Y60N|BTD_ENST00000383778.4_Missense_Mutation_p.Y38N|BTD_ENST00000449107.1_Missense_Mutation_p.Y60N|BTD_ENST00000482824.1_3'UTR	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	58	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.Y58N(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGCTGAATATTATGTGGCTGC	0.562																																							uc003cah.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TAT>AAT		biotinidase precursor							133.0	122.0	126.0					3																	15677058		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677058T>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.172T>A	3.37:g.15677058T>A	ENSP00000306477:p.Tyr58Asn					BTD_uc011avv.1_Missense_Mutation_p.Y60N|BTD_uc011avw.1_Missense_Mutation_p.Y60N|BTD_uc011avx.1_Missense_Mutation_p.Y38N	p.Y58N	NM_000060	NP_000051	P43251	BTD_HUMAN			2	275	+			58			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.172T>A	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852680	0.51270	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.98264	-4.83;-3.27;-3.27;-3.27;-2.89;-3.23	4.72	4.72	0.59763	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.129328	0.53938	D	0.000049	D	0.99055	0.9676	M	0.91300	3.195	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.976	D	0.99509	1.0955	10	0.87932	D	0	-29.6275	14.2847	0.66238	0.0:0.0:0.0:1.0	.	60;60;58	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	N	38;60;58;60;38;38	ENSP00000397113:Y38N;ENSP00000388212:Y60N;ENSP00000306477:Y58N;ENSP00000400995:Y60N;ENSP00000394277:Y38N;ENSP00000373288:Y38N	ENSP00000306477:Y58N	Y	+	1	0	BTD	15652062	1.000000	0.71417	0.017000	0.16124	0.018000	0.09664	7.199000	0.77831	1.780000	0.52325	0.454000	0.30748	TAT		0.562	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	110	0	0	0	0.000248	0	4	110				
RARB	5915	broad.mit.edu	37	3	25611292	25611292	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:25611292G>A	ENST00000404969.1	+	4	513	c.513G>A	c.(511-513)aaG>aaA	p.K171K	RARB_ENST00000437042.2_Silent_p.K52K|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Silent_p.K164K|RARB_ENST00000458646.1_Silent_p.K52K			P10826	RARB_HUMAN	retinoic acid receptor, beta	171	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K164K(1)|p.K171K(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGACTTCGAAGCAAGAATGCA	0.507																																							uc011awl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|pancreas(1)	3						c.(511-513)AAG>AAA		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						120.0	117.0	118.0					3																	25611292		2203	4300	6503	SO:0001819	synonymous_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611292G>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.513G>A	3.37:g.25611292G>A						RARB_uc003cdi.1_Silent_p.K52K|RARB_uc003cdh.2_Silent_p.K164K	p.K171K	NM_016152	NP_057236	P10826	RARB_HUMAN			4	579	+			171			Hinge.		P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	37	c.513G>A																																																																																					0.507	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		4	55	0	0	0	0.000248	0	4	55				
NEK10	152110	broad.mit.edu	37	3	27204002	27204002	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:27204002C>A	ENST00000429845.2	-	32	3322	c.2960G>T	c.(2959-2961)tGg>tTg	p.W987L	NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.W299L|NEK10_ENST00000357467.2_Missense_Mutation_p.W384L|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000295720.6_Missense_Mutation_p.W299L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	987					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)	p.W987L(1)		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						ATGGGACTGCCACCCTGTCAC	0.463																																							uc010hfk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(895-897)TGG>TTG		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							101.0	97.0	98.0					3																	27204002		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27204002C>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.2960G>T	3.37:g.27204002C>A	ENSP00000395849:p.Trp987Leu					NEK10_uc003cds.1_Missense_Mutation_p.W384L|NEK10_uc010hfj.2_Intron	p.W299L			Q6ZWH5	NEK10_HUMAN			10	1125	-			987					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.896G>T		.	.	.	.	.	.	.	.	.	.	C	14.18	2.457202	0.43634	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000357467	T;T;T	0.80480	2.74;2.93;-1.38	5.48	5.48	0.80851	.	.	.	.	.	T	0.65270	0.2675	.	.	.	0.24688	N	0.993327	B;B	0.20550	0.046;0.014	B;B	0.23716	0.048;0.007	T	0.48502	-0.9030	8	0.10111	T	0.7	.	11.9286	0.52833	0.1735:0.8265:0.0:0.0	.	299;384	Q6ZWH5-5;Q8N774	.;.	L	299;299;384	ENSP00000295720:W299L;ENSP00000373281:W299L;ENSP00000350059:W384L	ENSP00000295720:W299L	W	-	2	0	NEK10	27179006	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.013000	0.40942	2.577000	0.86979	0.655000	0.94253	TGG		0.463	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		5	74	1	0	1.23904e-05	0.000602	1.59024e-05	5	74				
MYD88	4615	broad.mit.edu	37	3	38182678	38182678	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:38182678C>T	ENST00000396334.3	+	5	1015	c.831C>T	c.(829-831)ttC>ttT	p.F277F	MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000424893.1_Silent_p.F232F|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000417037.2_Silent_p.F285F	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	264	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.F277F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGAAAGAGTTCCCCAGCATCC	0.562			Mis		ABC-DLBCL																																		uc003chx.2		NA		Dom	yes		3	3p22	4615	Mis 	myeloid differentiation primary response gene (88)			L			ABC-DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(93)|breast(1)	94						c.(853-855)TTC>TTT		myeloid differentiation primary response gene							206.0	163.0	178.0					3																	38182678		2203	4300	6503	SO:0001819	synonymous_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38182678C>T	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.831C>T	3.37:g.38182678C>T						MYD88_uc011ayi.1_Silent_p.F277F|MYD88_uc011ayj.1_3'UTR|MYD88_uc011ayk.1_3'UTR|MYD88_uc011ayl.1_Silent_p.F232F	p.F285F	NM_002468	NP_002459	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	5	1039	+			264			TIR.		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	ENST00000396334.3	37	c.855C>T	CCDS2674.2																																																																																				0.562	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		23	103	0	0	0	0.002299	0	23	103				
CCR8	1237	broad.mit.edu	37	3	39374724	39374724	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:39374724C>A	ENST00000326306.4	+	2	1040	c.902C>A	c.(901-903)gCt>gAt	p.A301D	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.A218D	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	301					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.A301D(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GTTATCTATGCTTTTGTTGGG	0.423																																							uc010hhr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(901-903)GCT>GAT		chemokine (C-C motif) receptor 8							106.0	114.0	111.0					3																	39374724		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374724C>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.902C>A	3.37:g.39374724C>A	ENSP00000326432:p.Ala301Asp					CCR8_uc003cjm.2_Missense_Mutation_p.A218D	p.A301D	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	1040	+			301			Helical; Name=7; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.902C>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548304	0.65311	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.40225	1.04;1.04	4.76	4.76	0.60689	.	0.070861	0.56097	D	0.000024	T	0.62744	0.2453	M	0.79475	2.455	0.44966	D	0.997987	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.66555	-0.5894	10	0.87932	D	0	.	10.9497	0.47321	0.0:0.9095:0.0:0.0905	.	301;218	P51685;Q3KNR3	CCR8_HUMAN;.	D	301;218	ENSP00000326432:A301D;ENSP00000440474:A218D	ENSP00000326432:A301D	A	+	2	0	CCR8	39349728	0.990000	0.36364	0.935000	0.37517	0.951000	0.60555	2.650000	0.46665	2.476000	0.83614	0.655000	0.94253	GCT		0.423	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		10	88	1	0	9.70103e-10	0.008291	1.43738e-09	10	88				
FYCO1	79443	broad.mit.edu	37	3	46009082	46009082	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:46009082G>T	ENST00000296137.2	-	8	1949	c.1744C>A	c.(1744-1746)Caa>Aaa	p.Q582K	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q582K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	582					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.Q582K(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGGCCTCTTGCAGACTGGAG	0.637																																							uc003cpb.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1744-1746)CAA>AAA		FYVE and coiled-coil domain containing 1							62.0	69.0	67.0					3																	46009082		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009082G>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1744C>A	3.37:g.46009082G>T	ENSP00000296137:p.Gln582Lys					FYCO1_uc011bal.1_Missense_Mutation_p.Q582K	p.Q582K	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1950	-			582					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1744C>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.824939	0.00071	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.02	5.16	4.27	0.50696	.	1.370180	0.04486	N	0.378576	T	0.13927	0.0337	N	0.14661	0.345	0.09310	N	1	B;B	0.24533	0.085;0.105	B;B	0.18871	0.023;0.013	T	0.14200	-1.0481	10	0.05525	T	0.97	-0.2132	13.2598	0.60098	0.0:0.0:0.8411:0.1588	.	582;582	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	582	ENSP00000296137:Q582K;ENSP00000441178:Q582K	ENSP00000296137:Q582K	Q	-	1	0	FYCO1	45984086	0.014000	0.17966	0.003000	0.11579	0.016000	0.09150	1.930000	0.40124	1.137000	0.42214	0.655000	0.94253	CAA		0.637	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		10	96	1	0	7.48243e-07	0.006214	1.01075e-06	10	96				
SETD2	29072	broad.mit.edu	37	3	47162939	47162939	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:47162939T>A	ENST00000409792.3	-	3	3229	c.3187A>T	c.(3187-3189)Aga>Tga	p.R1063*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1063					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)	p.R1063*(1)|p.R560*(1)		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)		AGACGGTTTCTTGGAATACTG	0.393			"""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		2	Substitution - Nonsense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3187-3189)AGA>TGA		SET domain containing 2							100.0	97.0	98.0					3																	47162939		2203	4300	6503	SO:0001587	stop_gained	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.chr3:47162939T>A	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.3187A>T	3.37:g.47162939T>A	ENSP00000386759:p.Arg1063*					SETD2_uc003cqv.2_Nonsense_Mutation_p.R1052*	p.R1063*	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)	3	3240	-		Acute lymphoblastic leukemia(5;0.0169)	1063					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3187A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	39	7.564823	0.98361	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.093	0.53737	0.0:0.0:0.1532:0.8468	.	.	.	.	X	1063;1063;1063;1019	.	.	R	-	1	2	SETD2	47137943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.506000	0.60428	2.195000	0.70347	0.477000	0.44152	AGA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	84	0	0	0	0.001368	0	12	84				
TRAIP	10293	broad.mit.edu	37	3	49866942	49866942	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:49866942C>A	ENST00000331456.2	-	14	1350		c.e14-1		TRAIP_ENST00000469027.1_Splice_Site	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTCCTTACCTAGGGTGGAA	0.577																																							uc003cxs.1		NA																	1	Unknown(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.e14-1		TRAF interacting protein							53.0	54.0	53.0					3																	49866942		2203	4300	6503	SO:0001630	splice_region_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49866942C>A	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1237-1G>T	3.37:g.49866942C>A						TRAIP_uc010hla.1_Splice_Site_p.V314_splice	p.V413_splice	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	14	1343	-								B5BU84|B5BUL3|O00467	Splice_Site	SNP	ENST00000331456.2	37	c.1237_splice	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485189	0.63962	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8324	0.78764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAIP	49841946	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.675000	0.61619	2.764000	0.94973	0.655000	0.94253	.		0.577	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879	Intron	4	54	1	0	0.000602214	0.000602	0.000713082	4	54				
TLR9	54106	broad.mit.edu	37	3	52257634	52257634	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:52257634A>G	ENST00000360658.2	-	2	1331	c.698T>C	c.(697-699)gTc>gCc	p.V233A	TLR9_ENST00000494383.1_Silent_p.R386R|TLR9_ENST00000597542.1_Missense_Mutation_p.V257A	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	233					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.V233A(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CGCCAGTTTGACGATGCGGTT	0.607																																							uc003dda.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)	4						c.(697-699)GTC>GCC		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						40.0	30.0	33.0					3																	52257634		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257634A>G	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.698T>C	3.37:g.52257634A>G	ENSP00000353874:p.Val233Ala					TLR9_uc003ddb.2_Missense_Mutation_p.V330A	p.V233A	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1332	-			233			LRR 7.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.698T>C	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	A	4.415	0.076701	0.08485	.	.	ENSG00000239732	ENST00000360658	T	0.56941	0.43	5.38	2.78	0.32641	.	0.524486	0.14228	N	0.332909	T	0.25269	0.0614	N	0.05230	-0.09	0.09310	N	1	B;B	0.28128	0.081;0.201	B;B	0.30716	0.037;0.119	T	0.20840	-1.0263	10	0.12766	T	0.61	.	3.7833	0.08689	0.5733:0.0:0.09:0.3366	.	330;233	B4E0A1;Q9NR96	.;TLR9_HUMAN	A	233	ENSP00000353874:V233A	ENSP00000353874:V233A	V	-	2	0	TLR9	52232674	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.898000	0.28404	0.838000	0.34948	0.533000	0.62120	GTC		0.607	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			3	23	0	0	0	0.004672	0	3	23				
ITIH3	3699	broad.mit.edu	37	3	52836352	52836352	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:52836352C>T	ENST00000449956.2	+	12	1392	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	ITIH3_ENST00000416872.2_Silent_p.G462G	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	462	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G462G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AACTTCAGGGCTTCTATGAGG	0.607																																							uc003dfv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)	3						c.(1384-1386)GGC>GGT		inter-alpha (globulin) inhibitor H3							45.0	49.0	48.0					3																	52836352		2060	4203	6263	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836352C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1386C>T	3.37:g.52836352C>T						ITIH3_uc011bek.1_Silent_p.G462G	p.G462G	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	12	1422	+			462			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1386C>T	CCDS46845.1																																																																																				0.607	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		3	32	0	0	0	0.004672	0	3	32				
CNTN3	5067	broad.mit.edu	37	3	74350797	74350797	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:74350797C>G	ENST00000263665.6	-	14	1973		c.e14+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)		p.?(1)		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)		TCCTGCTTTACCTGTTGTGAC	0.443																																							uc003dpm.1		NA																	1	Unknown(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.e14+1		contactin 3 precursor							147.0	137.0	140.0					3																	74350797		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350797C>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.1945+1G>C	3.37:g.74350797C>G							p.V649_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)	14	2025	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.1945_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779271	0.70107	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.98	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2108	0.73222	0.0:0.9327:0.0:0.0673	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74433487	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	7.202000	0.77856	1.537000	0.49254	0.591000	0.81541	.		0.443	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Intron	3	57	0	0	0	0.004672	0	3	57				
IGSF11	152404	broad.mit.edu	37	3	118621429	118621429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:118621429C>A	ENST00000393775.2	-	7	1539	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	IGSF11_ENST00000489689.1_Nonsense_Mutation_p.E388*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.E387*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.E411*|IGSF11_ENST00000354673.2_Nonsense_Mutation_p.E411*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.E384*	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	412					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E411*(1)|p.E412*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAATTCGTTCCAGTGTTGCG	0.522																																							uc003ebw.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1234-1236)GAA>TAA		immunoglobulin superfamily, member 11 isoform b							144.0	124.0	131.0					3																	118621429		2203	4300	6503	SO:0001587	stop_gained	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621429C>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1234G>T	3.37:g.118621429C>A	ENSP00000377370:p.Glu412*					IGSF11_uc011biv.1_Nonsense_Mutation_p.E384*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E388*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E411*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E387*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E411*	p.E412*	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1481	-			412			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Nonsense_Mutation	SNP	ENST00000393775.2	37	c.1234G>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330808	0.95733	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	.	.	.	5.03	5.03	0.67393	.	0.156010	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	17.5373	0.87835	0.0:1.0:0.0:0.0	.	.	.	.	X	411;412;388;411;387;384	.	ENSP00000346700:E411X	E	-	1	0	IGSF11	120104119	1.000000	0.71417	0.997000	0.53966	0.524000	0.34500	5.412000	0.66392	2.641000	0.89580	0.655000	0.94253	GAA		0.522	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			16	128	1	0	2.23348e-06	0.004007	2.98149e-06	16	128				
HEG1	57493	broad.mit.edu	37	3	124739887	124739887	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:124739887A>T	ENST00000311127.4	-	4	1068	c.1001T>A	c.(1000-1002)gTg>gAg	p.V334E	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	334					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V334E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATCAGTGAACACGGTGGCAAC	0.512																																							uc003ehs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1000-1002)GTG>GAG		HEG homolog 1 precursor							70.0	70.0	70.0					3																	124739887		2031	4203	6234	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739887A>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1001T>A	3.37:g.124739887A>T	ENSP00000311502:p.Val334Glu					HEG1_uc011bke.1_Missense_Mutation_p.V334E	p.V334E	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			4	1069	-			334			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1001T>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852520	0.32699	.	.	ENSG00000173706	ENST00000311127	T	0.43688	0.94	5.02	-0.198	0.13224	.	.	.	.	.	T	0.30978	0.0782	L	0.36672	1.1	0.09310	N	1	B;B	0.32160	0.358;0.244	B;B	0.32805	0.153;0.073	T	0.21415	-1.0246	9	0.62326	D	0.03	.	7.9759	0.30155	0.4954:0.0:0.5046:0.0	.	334;334	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	E	334	ENSP00000311502:V334E	ENSP00000311502:V334E	V	-	2	0	HEG1	126222577	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.198000	0.09505	-0.216000	0.10048	-0.242000	0.12053	GTG		0.512	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		4	18	0	0	0	0.000248	0	4	18				
DNAJC13	23317	broad.mit.edu	37	3	132218620	132218620	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:132218620C>T	ENST00000260818.6	+	38	4632	c.4384C>T	c.(4384-4386)Cgt>Tgt	p.R1462C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1462					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.R1462C(1)|p.R845C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTCTTGACTCGTGCTAGTAA	0.428																																							uc003eor.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(4384-4386)CGT>TGT		DnaJ (Hsp40) homolog, subfamily C, member 13							224.0	233.0	230.0					3																	132218620		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132218620C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4384C>T	3.37:g.132218620C>T	ENSP00000260818:p.Arg1462Cys						p.R1462C	NM_015268	NP_056083	O75165	DJC13_HUMAN			38	4449	+			1462					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4384C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400223	0.42613	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.18338	2.22	5.17	4.3	0.51218	Armadillo-like helical (1);Armadillo-type fold (1);	0.202919	0.45361	D	0.000366	T	0.10121	0.0248	N	0.24115	0.695	0.47905	D	0.999544	P	0.35774	0.519	B	0.27796	0.083	T	0.13442	-1.0509	10	0.51188	T	0.08	.	9.8456	0.41026	0.0:0.7875:0.1386:0.0739	.	1462	O75165	DJC13_HUMAN	C	1462;109	ENSP00000260818:R1462C	ENSP00000260818:R1462C	R	+	1	0	DNAJC13	133701310	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.378000	0.44309	1.296000	0.44742	-0.263000	0.10527	CGT		0.428	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		12	276	0	0	0	0.001855	0	12	276				
EPHB1	2047	broad.mit.edu	37	3	134920438	134920438	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:134920438G>T	ENST00000398015.3	+	12	2623	c.2253G>T	c.(2251-2253)ctG>ctT	p.L751L	EPHB1_ENST00000493838.1_Silent_p.L312L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.L751L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAACATTCTGGTCAACAGTA	0.552																																							uc003eqt.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2251-2253)CTG>CTT		ephrin receptor EphB1 precursor							177.0	179.0	178.0					3																	134920438		2200	4300	6500	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920438G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2253G>T	3.37:g.134920438G>T						EPHB1_uc003equ.2_Silent_p.L312L	p.L751L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2473	+			751			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2253G>T	CCDS46921.1																																																																																				0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		29	139	1	0	2.12542e-12	0.00632	3.36029e-12	29	139				
U2SURP	23350	broad.mit.edu	37	3	142741358	142741358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:142741358G>T	ENST00000473835.2	+	11	962	c.872G>T	c.(871-873)tGc>tTc	p.C291F	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.C290F	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	291	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.C291F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAATGCTGTGCCAAGAATTT	0.348																																						Colon(87;897 1320 15089 19747 35974)	uc003evh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(871-873)TGC>TTC		U2-associated SR140 protein							106.0	102.0	103.0					3																	142741358		1803	4076	5879	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741358G>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.872G>T	3.37:g.142741358G>T	ENSP00000418563:p.Cys291Phe					SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.C291F|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.C290F	p.C291F	NM_001080415	NP_001073884	O15042	SR140_HUMAN			11	971	+			291			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.872G>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589613	0.46214	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.15256	2.44;2.44	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	N	0.16567	0.415	0.80722	D	1	B;D;D	0.61697	0.417;0.99;0.969	B;P;P	0.56278	0.298;0.772;0.795	T	0.05852	-1.0860	10	0.14656	T	0.56	-6.1289	19.4415	0.94823	0.0:0.0:1.0:0.0	.	291;290;291	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	F	291;291;290	ENSP00000418563:C291F;ENSP00000422011:C290F	ENSP00000322376:C291F	C	+	2	0	U2SURP	144224048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.596000	0.87737	0.555000	0.69702	TGC		0.348	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		5	151	1	0	8.12818e-05	0.001984	9.95791e-05	5	151				
ZIC1	7545	broad.mit.edu	37	3	147131311	147131311	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:147131311T>A	ENST00000282928.4	+	3	2046	c.1317T>A	c.(1315-1317)tcT>tcA	p.S439S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	439	Ser-rich.				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.S439S(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						GTGCGCTCTCTTCCAATTTTA	0.478																																							uc003ewe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1315-1317)TCT>TCA		zinc finger protein of the cerebellum 1							93.0	87.0	89.0					3																	147131311		2203	4300	6503	SO:0001819	synonymous_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.chr3:147131311T>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.1317T>A	3.37:g.147131311T>A							p.S439S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	2036	+			439			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1317T>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	T	9.841	1.191032	0.21954	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	2.17	0.27698	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	.	3.3109	0.07016	0.3127:0.0:0.3577:0.3296	.	.	.	.	H	128	.	.	L	+	2	0	ZIC1	148614001	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.730000	0.26043	1.126000	0.42016	0.379000	0.24179	CTT		0.478	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		11	58	0	0	0	0.000978	0	11	58				
CPA3	1359	broad.mit.edu	37	3	148596504	148596504	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:148596504C>A	ENST00000296046.3	+	5	495	c.443C>A	c.(442-444)aCt>aAt	p.T148N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	148					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T148N(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTGGATCTACTGTTGAAGAT	0.294																																							uc003ewm.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(442-444)ACT>AAT		carboxypeptidase A3 precursor							67.0	76.0	73.0					3																	148596504		2202	4295	6497	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596504C>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.443C>A	3.37:g.148596504C>A	ENSP00000296046:p.Thr148Asn						p.T148N	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	495	+			148					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.443C>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942261	0.73672	.	.	ENSG00000163751	ENST00000296046	T	0.14893	2.47	5.19	5.19	0.71726	Peptidase M14, carboxypeptidase A (3);	0.050736	0.85682	D	0.000000	T	0.57446	0.2054	H	0.96175	3.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.71227	-0.4655	10	0.87932	D	0	.	18.0074	0.89213	0.0:1.0:0.0:0.0	.	148	P15088	CBPA3_HUMAN	N	148	ENSP00000296046:T148N	ENSP00000296046:T148N	T	+	2	0	CPA3	150079194	0.994000	0.37717	0.992000	0.48379	0.787000	0.44495	5.716000	0.68437	2.857000	0.98124	0.650000	0.86243	ACT		0.294	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		25	116	1	0	3.28513e-13	0.003954	5.26737e-13	25	116				
VEPH1	79674	broad.mit.edu	37	3	156979109	156979109	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:156979109C>T	ENST00000362010.2	-	14	2623	c.2316G>A	c.(2314-2316)gtG>gtA	p.V772V	VEPH1_ENST00000543418.1_Silent_p.V727V|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.V772V|VEPH1_ENST00000392833.2_Silent_p.V727V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	772	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)		p.V772V(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCACAGCCTTCACACTCTGTA	0.488																																							uc003fbj.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(2314-2316)GTG>GTA		ventricular zone expressed PH domain homolog 1							77.0	81.0	80.0					3																	156979109		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156979109C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2316G>A	3.37:g.156979109C>T						VEPH1_uc003fbk.1_Silent_p.V772V|VEPH1_uc010hvu.1_Silent_p.V727V	p.V772V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2633	-			772			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2316G>A	CCDS3179.1																																																																																				0.488	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		4	67	0	0	0	0.000248	0	4	67				
SI	6476	broad.mit.edu	37	3	164735354	164735354	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:164735354C>A	ENST00000264382.3	-	31	3803	c.3741G>T	c.(3739-3741)gtG>gtT	p.V1247V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.V1247V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTTAGCAGCCACCATAGCGT	0.338										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3739-3741)GTG>GTT		sucrase-isomaltase	Acarbose(DB00284)						61.0	59.0	59.0					3																	164735354		2203	4297	6500	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735354C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3741G>T	3.37:g.164735354C>A		HNSCC(35;0.089)					p.V1247V	NM_001041	NP_001032	P14410	SUIS_HUMAN			31	3803	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1247			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3741G>T	CCDS3196.1																																																																																				0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	42	1	0	0.00198382	0.001984	0.0022822	6	42				
PLD1	5337	broad.mit.edu	37	3	171395446	171395446	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:171395446C>T	ENST00000351298.4	-	17	2032	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	PLD1_ENST00000340989.4_Missense_Mutation_p.E636K|PLD1_ENST00000356327.5_Missense_Mutation_p.E598K|PLD1_ENST00000342215.6_Silent_p.E526E	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	636	Catalytic.				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)	p.E636K(1)		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)	CCATGCAGCTCTCCCACACCT	0.498																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1906-1908)GAG>AAG		phospholipase D1 isoform a	Choline(DB00122)						148.0	134.0	139.0					3																	171395446		2203	4300	6503	SO:0001583	missense	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.chr3:171395446C>T	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.1906G>A	3.37:g.171395446C>T	ENSP00000342793:p.Glu636Lys					PLD1_uc003fht.2_Missense_Mutation_p.E598K|PLD1_uc003fhv.1_5'UTR	p.E636K	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2022	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		636			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1906G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	36	5.755538	0.96898	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.07908	3.31;3.33;3.15	6.05	6.05	0.98169	.	0.043824	0.85682	D	0.000000	T	0.25644	0.0624	M	0.65677	2.01	0.80722	D	1	P;D	0.56035	0.873;0.974	P;P	0.57324	0.672;0.818	T	0.00011	-1.2435	10	0.40728	T	0.16	-21.946	20.6013	0.99457	0.0:1.0:0.0:0.0	.	621;636	Q59EA4;Q13393	.;PLD1_HUMAN	K	598;636;636	ENSP00000348681:E598K;ENSP00000342793:E636K;ENSP00000340326:E636K	ENSP00000340326:E636K	E	-	1	0	PLD1	172878140	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	7.280000	0.78610	2.878000	0.98634	0.650000	0.86243	GAG		0.498	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		4	122	0	0	0	0.000248	0	4	122				
ZNF639	51193	broad.mit.edu	37	3	179051750	179051750	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:179051750A>C	ENST00000326361.3	+	7	1443	c.998A>C	c.(997-999)cAt>cCt	p.H333P	ZNF639_ENST00000496856.1_Missense_Mutation_p.H333P|ZNF639_ENST00000484866.1_Missense_Mutation_p.H333P	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	333					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H333P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGACTTGCATAGCCATGTG	0.383																																							uc003fjq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(997-999)CAT>CCT		zinc finger protein 639							108.0	102.0	104.0					3																	179051750		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051750A>C	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.998A>C	3.37:g.179051750A>C	ENSP00000325634:p.His333Pro					ZNF639_uc003fjr.1_Missense_Mutation_p.H333P	p.H333P	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1341	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		333					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.998A>C	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861291	0.51482	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.60424	0.19;0.19;0.19	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);	0.066519	0.64402	D	0.000008	T	0.63402	0.2508	N	0.24115	0.695	0.45594	D	0.998533	D	0.65815	0.995	D	0.72982	0.979	T	0.61312	-0.7088	10	0.29301	T	0.29	.	16.3971	0.83610	1.0:0.0:0.0:0.0	.	333	Q9UID6	ZN639_HUMAN	P	333	ENSP00000417740:H333P;ENSP00000325634:H333P;ENSP00000418766:H333P	ENSP00000325634:H333P	H	+	2	0	ZNF639	180534444	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.287000	0.72671	2.330000	0.79161	0.533000	0.62120	CAT		0.383	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		10	90	0	0	0	0.006214	0	10	90				
ECE2	9718	broad.mit.edu	37	3	183967486	183967486	+	Missense_Mutation	SNP	G	G	A	rs374014207		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:183967486G>A	ENST00000402825.3	+	1	4	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	ALG3_ENST00000455059.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000445626.2_5'Flank|ALG3_ENST00000397676.3_5'Flank|ECE2_ENST00000324557.4_Missense_Mutation_p.A2T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	2	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.A2T(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGAGCATGGCCTCTCCAGG	0.682											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fni.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(4-6)GCC>ACC		endothelin converting enzyme 2 isoform A		G	THR/ALA,THR/ALA	1,4383		0,1,2191	13.0	16.0	15.0		4,4	3.7	1.0	3		15	0,8568		0,0,4284	no	missense,missense	ECE2	NM_032331.3,NM_014693.3	58,58	0,1,6475	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	2/256,2/884	183967486	1,12951	2192	4284	6476	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183967486G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.4G>A	3.37:g.183967486G>A	ENSP00000384223:p.Ala2Thr		OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.A2T	p.A2T	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	42	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		2			Cytoplasmic (Potential).|Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.4G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292284	0.40594	2.28E-4	0.0	ENSG00000145194	ENST00000324557;ENST00000402825	T;D	0.81579	2.12;-1.51	5.57	3.7	0.42460	.	.	.	.	.	T	0.74283	0.3696	L	0.51422	1.61	0.80722	D	1	B;B	0.33612	0.295;0.419	B;B	0.31614	0.055;0.133	T	0.72975	-0.4128	9	0.72032	D	0.01	-2.5401	11.2484	0.49010	0.0:0.0:0.6671:0.3329	.	2;2	O60344;O60344-4	ECE2_HUMAN;.	T	2	ENSP00000314295:A2T;ENSP00000384223:A2T	ENSP00000314295:A2T	A	+	1	0	ECE2	185450180	0.927000	0.31430	0.985000	0.45067	0.067000	0.16453	1.863000	0.39459	0.753000	0.32945	-0.293000	0.09583	GCC		0.682	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		3	21	0	0	0	0.000248	0	3	21				
EIF4G1	1981	broad.mit.edu	37	3	184043360	184043360	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:184043360C>G	ENST00000346169.2	+	20	3325	c.3054C>G	c.(3052-3054)atC>atG	p.I1018M	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I1025M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I931M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I932M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I979M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I1025M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I1018M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I823M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I1025M|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I1019M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I822M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I855M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I978M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I854M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1018	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I1018M(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGAGCACATCAAAGTGCAGC	0.582																																							uc003fnp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3052-3054)ATC>ATG		eukaryotic translation initiation factor 4							99.0	95.0	96.0					3																	184043360		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043360C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3054C>G	3.37:g.184043360C>G	ENSP00000316879:p.Ile1018Met					EIF4G1_uc003fnt.2_Missense_Mutation_p.I729M|EIF4G1_uc003fnq.2_Missense_Mutation_p.I931M|EIF4G1_uc003fnr.2_Missense_Mutation_p.I854M|EIF4G1_uc010hxx.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fns.2_Missense_Mutation_p.I978M|EIF4G1_uc010hxy.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fnv.3_Missense_Mutation_p.I1019M|EIF4G1_uc003fnu.3_Missense_Mutation_p.I1018M|EIF4G1_uc003fnw.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fnx.2_Missense_Mutation_p.I823M|EIF4G1_uc003fny.3_Missense_Mutation_p.I822M|SNORD66_uc003fnz.2_5'Flank	p.I1018M	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3252	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1018			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3054C>G	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.361881|1.361881	0.24684|0.24684	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.03831|.	3.98;3.98;3.9;3.98;3.79;3.98;3.91;3.99;3.98;3.98;3.98;3.8;3.79;3.79|.	5.53|5.53	2.57|2.57	0.30868|0.30868	.|.	0.149413|.	0.64402|.	D|.	0.000010|.	T|.	0.36248|.	0.0960|.	L|L	0.32530|0.32530	0.975|0.975	0.33970|0.33970	D|D	0.646714|0.646714	B;B;B|.	0.18310|.	0.027;0.027;0.027|.	B;B;B|.	0.17433|.	0.018;0.011;0.011|.	T|.	0.40776|.	-0.9545|.	10|.	0.40728|.	T|.	0.16|.	-6.6158|-6.6158	4.9771|4.9771	0.14146|0.14146	0.1603:0.5316:0.0:0.3081|0.1603:0.5316:0.0:0.3081	.|.	1025;1019;1018|.	E9PFM1;D3DNT2;Q04637|.	.;.;IF4G1_HUMAN|.	M|X	1018;978;931;1025;854;1025;932;1019;1018;1025;979;855;823;822|70	ENSP00000316879:I1018M;ENSP00000391935:I978M;ENSP00000376320:I931M;ENSP00000371767:I1025M;ENSP00000317600:I854M;ENSP00000338020:I1025M;ENSP00000407682:I932M;ENSP00000343450:I1019M;ENSP00000323737:I1018M;ENSP00000416255:I1025M;ENSP00000395974:I979M;ENSP00000399858:I855M;ENSP00000411826:I823M;ENSP00000404754:I822M|.	ENSP00000323737:I1018M|.	I|S	+|+	3|2	3|0	EIF4G1|EIF4G1	185526054|185526054	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.293000|0.293000	0.19029|0.19029	0.203000|0.203000	0.20529|0.20529	0.561000|0.561000	0.74099|0.74099	ATC|TCA		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		16	95	0	0	0	0.003163	0	16	95				
FAM131A	131408	broad.mit.edu	37	3	184060021	184060021	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:184060021G>C	ENST00000310585.4	+	1	1764	c.400G>C	c.(400-402)Gct>Cct	p.A134P	FAM131A_ENST00000383847.2_Missense_Mutation_p.A165P|FAM131A_ENST00000340957.5_Missense_Mutation_p.A80P|FAM131A_ENST00000418281.1_Missense_Mutation_p.A42P|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Missense_Mutation_p.A80P|FAM131A_ENST00000450976.1_Missense_Mutation_p.A80P			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	134						extracellular region (GO:0005576)		p.A134P(1)|p.A165P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAACAAGAGGCTCGCTTTGC	0.498																																							uc003fog.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(400-402)GCT>CCT		hypothetical protein LOC131408 precursor							59.0	62.0	61.0					3																	184060021		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184060021G>C	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.400G>C	3.37:g.184060021G>C	ENSP00000310135:p.Ala134Pro					FAM131A_uc003fob.1_Missense_Mutation_p.A42P|FAM131A_uc003foc.2_Missense_Mutation_p.A80P|FAM131A_uc003foe.2_Missense_Mutation_p.A80P	p.A134P	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	1764	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		134					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.400G>C		.	.	.	.	.	.	.	.	.	.	g	19.34	3.809467	0.70797	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000433578;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.06	5.06	0.68205	.	0.199728	0.41938	D	0.000793	T	0.47097	0.1427	M	0.70595	2.14	0.80722	D	1	B;B;B	0.25048	0.082;0.117;0.028	B;B;B	0.25759	0.039;0.063;0.016	T	0.51395	-0.8711	10	0.87932	D	0	-29.8245	17.2184	0.86950	0.0:0.0:1.0:0.0	.	134;165;42	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	P	80;42;80;80;80;165;80;134	ENSP00000388551:A80P;ENSP00000414050:A42P;ENSP00000340974:A80P;ENSP00000399875:A80P;ENSP00000414913:A80P;ENSP00000373360:A165P;ENSP00000390588:A80P;ENSP00000310135:A134P	ENSP00000310135:A134P	A	+	1	0	FAM131A	185542715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.703000	0.91344	2.338000	0.79540	0.655000	0.94253	GCT		0.498	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		3	106	0	0	0	0.004672	0	3	106				
SENP2	59343	broad.mit.edu	37	3	185347571	185347571	+	Splice_Site	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:185347571A>G	ENST00000296257.5	+	17	1949	c.1709A>G	c.(1708-1710)cAc>cGc	p.H570R	SENP2_ENST00000545472.1_Splice_Site_p.H560R|SENP2_ENST00000427465.2_Splice_Site_p.H394R	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	570					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.H570R(1)|p.Q570R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTTTGCAGCACCAGATGCCT	0.473																																							uc003fpn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1708-1710)CAC>CGC		SUMO1/sentrin/SMT3 specific protease 2							181.0	162.0	168.0					3																	185347571		2203	4300	6503	SO:0001630	splice_region_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185347571A>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1708-1A>G	3.37:g.185347571A>G						SENP2_uc011brv.1_Missense_Mutation_p.H560R|SENP2_uc011brw.1_Missense_Mutation_p.H383R	p.H570R	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		17	1880	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		570					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.1709A>G	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910109	0.52439	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.28454	1.61;1.61;1.61	5.88	4.66	0.58398	.	0.251314	0.41712	D	0.000826	T	0.07052	0.0179	N	0.00823	-1.155	0.30802	N	0.73978	B;B	0.22800	0.075;0.075	B;B	0.20767	0.031;0.031	T	0.30179	-0.9987	10	0.06625	T	0.88	-14.0563	3.5168	0.07727	0.6765:0.0:0.1541:0.1694	.	560;570	B4DQ42;Q9HC62	.;SENP2_HUMAN	R	560;570;441;394	ENSP00000439653:H560R;ENSP00000296257:H570R;ENSP00000394562:H394R	ENSP00000296257:H570R	H	+	2	0	SENP2	186830265	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	2.243000	0.73865	0.528000	0.53228	CAC		0.473	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	Missense_Mutation	4	92	0	0	0	0.000602	0	4	92				
PDE6B	5158	broad.mit.edu	37	4	619540	619540	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:619540C>A	ENST00000496514.1	+	1	146	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	PDE6B_ENST00000255622.6_Missense_Mutation_p.P42Q			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.P42Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGGTGCCCGCCGGACTGCGAC	0.642																																					GBM(71;463 1194 9848 25922 46834)	GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CCG>CAG		phosphodiesterase 6B isoform 1							39.0	42.0	41.0					4																	619540		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619540C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.125C>A	4.37:g.619540C>A	ENSP00000420295:p.Pro42Gln					PDE6B_uc003gao.3_Missense_Mutation_p.P42Q	p.P42Q	NM_000283	NP_000274	P35913	PDE6B_HUMAN			1	178	+			42					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.125C>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	c	1.900	-0.453234	0.04540	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.62639	0.01;0.01	4.97	-6.29	0.02013	.	1.227940	0.06044	N	0.655325	T	0.37100	0.0991	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.28933	-1.0028	10	0.12430	T	0.62	.	8.4217	0.32705	0.1014:0.2758:0.0:0.6228	.	42;42	P35913;P35913-2	PDE6B_HUMAN;.	Q	42	ENSP00000255622:P42Q;ENSP00000420295:P42Q	ENSP00000255622:P42Q	P	+	2	0	PDE6B	609540	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.168000	0.03123	-1.191000	0.02695	-0.266000	0.10368	CCG		0.642	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		6	53	1	0	0.00116845	0.001168	0.00135799	6	53				
RGS12	6002	broad.mit.edu	37	4	3429845	3429845	+	Silent	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:3429845A>T	ENST00000344733.5	+	15	4264	c.3360A>T	c.(3358-3360)ccA>ccT	p.P1120P	RGS12_ENST00000306648.7_Silent_p.P518P|RGS12_ENST00000338806.4_Silent_p.P472P|RGS12_ENST00000336727.3_Silent_p.P1120P|RGS12_ENST00000538395.1_Silent_p.P462P|RGS12_ENST00000382788.3_Silent_p.P1120P|RGS12_ENST00000508158.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1120					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.P1120P(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGTGTGCCAGTGAAACAGA	0.502																																							uc003ggw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3358-3360)CCA>CCT		regulator of G-protein signalling 12 isoform 1							158.0	164.0	162.0					4																	3429845		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3429845A>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3360A>T	4.37:g.3429845A>T						RGS12_uc003ggv.2_Silent_p.P1120P|RGS12_uc003ggy.1_Silent_p.P518P|RGS12_uc003ggz.2_Silent_p.P472P|RGS12_uc010icu.1_Silent_p.P319P|RGS12_uc011bvs.1_Silent_p.P462P|RGS12_uc003gha.2_Silent_p.P462P|RGS12_uc010icv.2_Silent_p.P319P|RGS12_uc003ghb.2_Silent_p.P319P	p.P1120P	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	4264	+			1120					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3360A>T	CCDS3366.1																																																																																				0.502	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	163	0	0	0	0.008291	0	10	163				
MSX1	4487	broad.mit.edu	37	4	4864535	4864535	+	Missense_Mutation	SNP	C	C	A	rs104893850		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:4864535C>A	ENST00000382723.4	+	2	811	c.577C>A	c.(577-579)Cag>Aag	p.Q193K	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	193					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.Q193K(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGTTCCGCCAGAAGCAGTA	0.652																																							uc003gif.2		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM042403	MSX1	M	rs104893850	c.(577-579)CAG>AAG		msh homeobox 1							46.0	54.0	51.0					4																	4864535		2202	4300	6502	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864535C>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.577C>A	4.37:g.4864535C>A	ENSP00000372170:p.Gln193Lys						p.Q193K	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	812	+			187			Homeobox.		A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.577C>A	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	C	36	5.668018	0.96745	.	.	ENSG00000163132	ENST00000382723	D	0.95885	-3.84	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	N	0.05078	-0.115	0.80722	D	1	P	0.47106	0.89	P	0.53266	0.722	D	0.94969	0.8115	10	0.72032	D	0.01	-4.5913	18.3263	0.90255	0.0:1.0:0.0:0.0	.	187	P28360	MSX1_HUMAN	K	193	ENSP00000372170:Q193K	ENSP00000372170:Q193K	Q	+	1	0	MSX1	4915436	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.809000	0.62591	2.391000	0.81399	0.462000	0.41574	CAG		0.652	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			7	70	1	0	8.12818e-05	0.001984	9.95791e-05	7	70				
STK32B	55351	broad.mit.edu	37	4	5333033	5333033	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:5333033T>A	ENST00000282908.5	+	4	769	c.347T>A	c.(346-348)gTg>gAg	p.V116E	STK32B_ENST00000510398.1_Missense_Mutation_p.V69E|STK32B_ENST00000512636.1_Missense_Mutation_p.V69E	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.V116E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCAGAATGTGCATTTCACA	0.547																																							uc003gih.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(346-348)GTG>GAG		serine/threonine kinase 32B							144.0	116.0	126.0					4																	5333033		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5333033T>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.347T>A	4.37:g.5333033T>A	ENSP00000282908:p.Val116Glu					STK32B_uc010ida.1_Missense_Mutation_p.V69E	p.V116E	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			4	411	+			116			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.347T>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917087	0.52546	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.23147	1.92;1.92;1.92	5.05	5.05	0.67936	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	0.37219	U	0.002194	T	0.31765	0.0807	N	0.11756	0.17	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.17653	-1.0362	10	0.33141	T	0.24	.	14.2826	0.66224	0.0:0.0:0.0:1.0	.	116	Q9NY57	ST32B_HUMAN	E	116;69;69	ENSP00000282908:V116E;ENSP00000423209:V69E;ENSP00000420984:V69E	ENSP00000282908:V116E	V	+	2	0	STK32B	5383934	1.000000	0.71417	0.136000	0.22124	0.366000	0.29705	5.716000	0.68437	2.013000	0.59113	0.379000	0.24179	GTG		0.547	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	48	0	0	0	0.000602	0	5	48				
ARAP2	116984	broad.mit.edu	37	4	36179480	36179481	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:36179480_36179481CC>AT	ENST00000303965.4	-	9	2314_2315	c.1825_1826GG>AT	c.(1825-1827)GGa>ATa	p.G609I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	609	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.G609I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CACACTGTTTCCACTTAACACA	0.366																																							uc003gsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1825-1827)GGA>ATA		ArfGAP with RhoGAP domain, ankyrin repeat and PH																																				SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36179480_36179481CC>AT	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1825_1826delinsAT	4.37:g.36179480_36179481delinsAT	ENSP00000302895:p.Gly609Ile					ARAP2_uc003gsr.1_Missense_Mutation_p.G609I	p.G609I	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			9	2163_2164	-			609			PH 2.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	DNP	ENST00000303965.4	37	c.1825_1826GG>AT	CCDS3441.1																																																																																				0.366	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		9	81	0	0	0	0.004672	0	9	81				
CORIN	10699	broad.mit.edu	37	4	47625744	47625744	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:47625744G>A	ENST00000273857.4	-	19	2383	c.2384C>T	c.(2383-2385)gCt>gTt	p.A795V	CORIN_ENST00000502252.1_Missense_Mutation_p.A728V|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.A758V|CORIN_ENST00000508498.1_Missense_Mutation_p.A656V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	795	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A795V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATTCGGGCAGCAGGGCGGCG	0.532																																							uc003gxm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2383-2385)GCT>GTT		corin							86.0	86.0	86.0					4																	47625744		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47625744G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2384C>T	4.37:g.47625744G>A	ENSP00000273857:p.Ala795Val					CORIN_uc011bzf.1_Missense_Mutation_p.A656V|CORIN_uc011bzg.1_Missense_Mutation_p.A728V	p.A795V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			19	2477	-			795			Extracellular (Potential).|SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2384C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227027	0.79576	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.90324	-2.65;-2.65;-2.64;-2.52	5.25	4.4	0.53042	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.060948	0.64402	D	0.000005	D	0.92361	0.7576	M	0.68593	2.085	0.80722	D	1	D;P	0.62365	0.991;0.86	P;B	0.60012	0.867;0.426	D	0.89195	0.3553	10	0.13108	T	0.6	.	13.6005	0.62015	0.0753:0.0:0.9247:0.0	.	728;795	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	V	795;656;728;758	ENSP00000273857:A795V;ENSP00000425597:A656V;ENSP00000424212:A728V;ENSP00000425401:A758V	ENSP00000273857:A795V	A	-	2	0	CORIN	47320501	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.925000	0.56484	2.611000	0.88343	0.585000	0.79938	GCT		0.532	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	64	0	0	0	0.000602	0	4	64				
SRD5A3	79644	broad.mit.edu	37	4	56230429	56230429	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:56230429G>C	ENST00000264228.4	+	3	781	c.553G>C	c.(553-555)Ggc>Cgc	p.G185R	SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	185					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.G185R(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GCCAATGGATGGCAGGAATGG	0.522																																							uc003hau.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GGC>CGC		steroid 5 alpha-reductase 3							158.0	122.0	134.0					4																	56230429		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56230429G>C	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.553G>C	4.37:g.56230429G>C	ENSP00000264228:p.Gly185Arg					uc003hav.1_RNA	p.G185R	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		3	648	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		185			Cytoplasmic (Potential).		Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.553G>C	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702252	0.15172	.	.	ENSG00000128039	ENST00000264228	T	0.38077	1.16	5.48	4.63	0.57726	.	0.751338	0.13305	N	0.397973	T	0.15003	0.0362	N	0.02202	-0.64	0.09310	N	1	B	0.22909	0.077	B	0.23018	0.043	T	0.12734	-1.0536	10	0.12103	T	0.63	-19.0121	10.9067	0.47084	0.1446:0.0:0.8554:0.0	.	185	Q9H8P0	PORED_HUMAN	R	185	ENSP00000264228:G185R	ENSP00000264228:G185R	G	+	1	0	SRD5A3	55925186	0.981000	0.34729	0.777000	0.31699	0.207000	0.24258	2.683000	0.46943	2.577000	0.86979	0.561000	0.74099	GGC		0.522	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		5	43	0	0	0	0.000602	0	5	43				
LPHN3	23284	broad.mit.edu	37	4	62775293	62775293	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:62775293A>G	ENST00000514591.1	+	11	2028	c.1699A>G	c.(1699-1701)Aca>Gca	p.T567A	LPHN3_ENST00000514157.1_Missense_Mutation_p.T567A|LPHN3_ENST00000545650.1_Missense_Mutation_p.T567A|LPHN3_ENST00000509896.1_Missense_Mutation_p.T635A|LPHN3_ENST00000512091.2_Missense_Mutation_p.T567A|LPHN3_ENST00000508946.1_Missense_Mutation_p.T567A|LPHN3_ENST00000504896.1_Missense_Mutation_p.T567A|LPHN3_ENST00000507625.1_Missense_Mutation_p.T635A|LPHN3_ENST00000506720.1_Missense_Mutation_p.T635A|LPHN3_ENST00000506746.1_Missense_Mutation_p.T635A|LPHN3_ENST00000511324.1_Missense_Mutation_p.T635A|LPHN3_ENST00000507164.1_Missense_Mutation_p.T635A|LPHN3_ENST00000508693.1_Missense_Mutation_p.T635A|LPHN3_ENST00000506700.1_Missense_Mutation_p.T567A|LPHN3_ENST00000514996.1_Missense_Mutation_p.T567A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	567					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T567A(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGGTGAAACAGCTGCCAA	0.408																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1699-1701)ACA>GCA		latrophilin 3 precursor							38.0	38.0	38.0					4																	62775293		1879	4107	5986	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62775293A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1699A>G	4.37:g.62775293A>G	ENSP00000422533:p.Thr567Ala					LPHN3_uc003hcq.3_Missense_Mutation_p.T567A|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.T396A	p.T567A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			9	1872	+			567			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1699A>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.468740|2.468740	0.43839|0.43839	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.08807	.|3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.052335	.|0.85682	.|D	.|0.000000	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.36672|0.36672	1.1|1.1	0.48135|0.48135	D|D	0.999593|0.999593	.|B;B	.|0.16802	.|0.019;0.006	.|B;B	.|0.21360	.|0.034;0.023	T|T	0.13176|0.13176	-1.0519|-1.0519	5|10	.|0.37606	.|T	.|0.19	.|.	15.6129|15.6129	0.76740|0.76740	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|567;567	.|E9PE04;Q9HAR2-2	.|.;.	S|A	37|567;567;635;635;567;567;567;567;567;635;635;635;567;567;567;635;635;567	.|ENSP00000423388:T567A;ENSP00000422533:T567A;ENSP00000423787:T635A;ENSP00000425033:T635A;ENSP00000424120:T567A;ENSP00000439831:T567A;ENSP00000421476:T635A;ENSP00000424030:T635A;ENSP00000421372:T635A;ENSP00000425201:T567A;ENSP00000423434:T567A;ENSP00000421627:T567A;ENSP00000420931:T635A;ENSP00000425884:T635A;ENSP00000424258:T567A	.|ENSP00000280009:T567A	N|T	+|+	2|1	0|0	LPHN3|LPHN3	62457888|62457888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.223000|7.223000	0.78033|0.78033	2.155000|2.155000	0.67459|0.67459	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	26	0	0	0	0.000248	0	4	26				
CSN1S1	1446	broad.mit.edu	37	4	70802196	70802196	+	Splice_Site	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:70802196G>A	ENST00000246891.4	+	6	201	c.152G>A	c.(151-153)aGg>aAg	p.R51K	CSN1S1_ENST00000505782.1_Splice_Site_p.R51K|CSN1S1_ENST00000507763.1_Splice_Site_p.R51K|CSN1S1_ENST00000444405.3_Splice_Site_p.R51K|CSN1S1_ENST00000507772.1_Splice_Site_p.R51K	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	51						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)	p.R51K(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GGTATGAACAGGGTAAGAAAC	0.274																																							uc003hep.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)AGG>AAG		casein alpha s1 isoform 1							74.0	67.0	70.0					4																	70802196		1801	4057	5858	SO:0001630	splice_region_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70802196G>A	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.153+1G>A	4.37:g.70802196G>A						CSN1S1_uc003heq.1_Missense_Mutation_p.R51K|CSN1S1_uc003her.1_Missense_Mutation_p.R51K	p.R51K	NM_001890	NP_001881	P47710	CASA1_HUMAN			6	201	+			51					A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.152G>A	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274566	0.23307	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.61859	0.07;0.13;0.13;0.13;0.14	3.69	-1.43	0.08884	.	0.166180	0.28821	N	0.014035	T	0.42154	0.1190	L	0.40543	1.245	0.09310	N	1.0	B;B;B	0.25772	0.134;0.134;0.134	B;B;B	0.29524	0.059;0.059;0.103	T	0.34976	-0.9807	9	0.30854	T	0.27	-3.6186	7.7695	0.28999	0.5434:0.0:0.4566:0.0	.	51;51;51	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	K	51	ENSP00000246891:R51K;ENSP00000413157:R51K;ENSP00000422611:R51K;ENSP00000427490:R51K;ENSP00000426684:R51K	ENSP00000246891:R51K	R	+	2	0	CSN1S1	70836785	0.002000	0.14202	0.320000	0.25306	0.375000	0.29983	-0.924000	0.03996	-0.376000	0.07943	0.585000	0.79938	AGG		0.274	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		Missense_Mutation	4	41	0	0	0	0.001168	0	4	41				
NUP54	53371	broad.mit.edu	37	4	77057381	77057381	+	Silent	SNP	C	C	A	rs377164809		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:77057381C>A	ENST00000264883.3	-	4	620	c.480G>T	c.(478-480)ccG>ccT	p.P160P	NUP54_ENST00000458189.2_Intron|NUP54_ENST00000514987.1_Silent_p.P112P|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	160	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.P160P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATTCCACTGGCGGAATATTAT	0.348																																							uc003hjs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(478-480)CCG>CCT		nucleoporin 54kDa							87.0	92.0	91.0					4																	77057381		2203	4300	6503	SO:0001819	synonymous_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77057381C>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.480G>T	4.37:g.77057381C>A						NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Silent_p.P112P|NUP54_uc003hjt.2_Intron	p.P160P	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			4	608	-			160			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	ENST00000264883.3	37	c.480G>T	CCDS3576.1																																																																																				0.348	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			8	89	1	0	0.00448238	0.004482	0.00511498	8	89				
WDFY3	23001	broad.mit.edu	37	4	85731418	85731418	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:85731418G>C	ENST00000295888.4	-	14	2374	c.1967C>G	c.(1966-1968)tCc>tGc	p.S656C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S656C|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	656					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.S656C(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACGAGCAAGGATGTAATGTA	0.438																																							uc003hpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1966-1968)TCC>TGC		WD repeat and FYVE domain containing 3 isoform							68.0	62.0	64.0					4																	85731418		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731418G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1967C>G	4.37:g.85731418G>C	ENSP00000295888:p.Ser656Cys					WDFY3_uc003hpf.2_Missense_Mutation_p.S656C	p.S656C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2375	-		Hepatocellular(203;0.114)	656					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1967C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914590	0.92178	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.52057	0.68;0.68	5.87	5.87	0.94306	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.71437	-0.4593	10	0.87932	D	0	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	656;656	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	C	656	ENSP00000318466:S656C;ENSP00000295888:S656C	ENSP00000295888:S656C	S	-	2	0	WDFY3	85950442	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.338000	0.96553	2.779000	0.95612	0.591000	0.81541	TCC		0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	50	0	0	0	0.000602	0	5	50				
SNCA	6622	broad.mit.edu	37	4	90743475	90743476	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:90743475_90743476TG>CC	ENST00000394986.1	-	4	648_649	c.227_228CA>GG	c.(226-228)gCA>gGG	p.A76G	SNCA_ENST00000336904.3_Missense_Mutation_p.A76G|SNCA_ENST00000345009.4_Missense_Mutation_p.A76G|SNCA_ENST00000394991.3_Missense_Mutation_p.A76G|SNCA_ENST00000420646.2_Missense_Mutation_p.A76G|SNCA_ENST00000394989.2_Missense_Mutation_p.A62G|SNCA_ENST00000505199.1_Missense_Mutation_p.A62G|SNCA_ENST00000508895.1_Missense_Mutation_p.A76G|SNCA_ENST00000502987.1_Missense_Mutation_p.A76G|SNCA_ENST00000506244.1_Missense_Mutation_p.A76G			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	76					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.A76G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TCTGGGCTACTGCTGTCACACC	0.505																																							uc003hsq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GCA>GGG		alpha-synuclein isoform NACP140	Melatonin(DB01065)																																			SO:0001583	missense	6622				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	g.chr4:90743475_90743476TG>CC	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.227_228delinsCC	4.37:g.90743475_90743476delinsCC	ENSP00000378437:p.Ala76Gly					SNCA_uc010ikt.2_Missense_Mutation_p.A62G|SNCA_uc003hso.2_Missense_Mutation_p.A76G|SNCA_uc003hsp.2_Missense_Mutation_p.A76G|SNCA_uc003hsr.2_Missense_Mutation_p.A76G	p.A76G	NM_001146054	NP_001139526	P37840	SYUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	4	486_487	-		Hepatocellular(203;0.114)	76	Missing: Impairs polymerization into amyloid fibrils.|Missing: Impairs polymerization into amyloid fibrils.|Missing: Does not affect polymerization into amyloid fibrils.				A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	DNP	ENST00000394986.1	37	c.227_228CA>GG	CCDS3634.1																																																																																				0.505	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			3	53	0	0	0	0.004672	0	3	53				
ADH6	130	broad.mit.edu	37	4	100131598	100131598	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:100131598A>G	ENST00000237653.7	-	4	708	c.324T>C	c.(322-324)tcT>tcC	p.S108S	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Silent_p.S108S|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000394899.2_Silent_p.S108S|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	108					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.S108S(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AATTGCCCTCAGAATTCAGGC	0.303																																							uc003hup.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(322-324)TCT>TCC		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						66.0	71.0	69.0					4																	100131598		2203	4299	6502	SO:0001819	synonymous_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131598A>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.324T>C	4.37:g.100131598A>G						uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.S108S|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.S108S	p.S108S	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	4	418	-			108					B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	c.324T>C	CCDS3647.1																																																																																				0.303	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		7	90	0	0	0	0.004482	0	7	90				
MTTP	4547	broad.mit.edu	37	4	100532599	100532599	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:100532599C>T	ENST00000265517.5	+	14	2181	c.1978C>T	c.(1978-1980)Cac>Tac	p.H660Y	MTTP_ENST00000457717.1_Missense_Mutation_p.H660Y|MTTP_ENST00000511045.1_Missense_Mutation_p.H687Y|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	660					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.H660Y(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGCTGGTCTTCACGGTAGCCA	0.413																																							uc003hvc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1978-1980)CAC>TAC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						153.0	140.0	144.0					4																	100532599		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532599C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1978C>T	4.37:g.100532599C>T	ENSP00000265517:p.His660Tyr					MTTP_uc011cej.1_Missense_Mutation_p.H687Y	p.H660Y	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	15	2234	+			660					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1978C>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823395	0.32237	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62364	0.03;0.05;0.05	5.62	5.62	0.85841	.	0.045132	0.85682	D	0.000000	T	0.64204	0.2577	M	0.62723	1.935	0.58432	D	0.999999	B;B	0.33000	0.393;0.31	B;B	0.34138	0.175;0.176	T	0.63523	-0.6618	10	0.44086	T	0.13	-19.2245	19.6528	0.95823	0.0:1.0:0.0:0.0	.	687;660	E9PBP6;P55157	.;MTP_HUMAN	Y	687;660;660	ENSP00000427679:H687Y;ENSP00000400821:H660Y;ENSP00000265517:H660Y	ENSP00000265517:H660Y	H	+	1	0	MTTP	100751622	1.000000	0.71417	0.132000	0.22025	0.006000	0.05464	6.803000	0.75180	2.646000	0.89796	0.655000	0.94253	CAC		0.413	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			9	115	0	0	0	0.008291	0	9	115				
BANK1	55024	broad.mit.edu	37	4	102942739	102942739	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:102942739A>G	ENST00000322953.4	+	8	1549	c.1275A>G	c.(1273-1275)acA>acG	p.T425T	BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Silent_p.T395T|BANK1_ENST00000504592.1_Silent_p.T410T|BANK1_ENST00000508653.1_Silent_p.T292T|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Silent_p.T292T	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	425					B cell activation (GO:0042113)			p.T425T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATTTTCCACATATATTCCTT	0.244																																							uc003hvy.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1273-1275)ACA>ACG		B-cell scaffold protein with ankyrin repeats 1							27.0	31.0	30.0					4																	102942739		2169	4235	6404	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102942739A>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1275A>G	4.37:g.102942739A>G						BANK1_uc003hvx.3_Silent_p.T410T|BANK1_uc010ill.2_Silent_p.T292T|BANK1_uc003hvz.3_Silent_p.T395T	p.T425T	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1549	+		Hepatocellular(203;0.217)	425					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1275A>G	CCDS34038.1																																																																																				0.244	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		3	18	0	0	0	0.004672	0	3	18				
TACR3	6870	broad.mit.edu	37	4	104511146	104511146	+	Missense_Mutation	SNP	C	C	T	rs150288991		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:104511146C>T	ENST00000304883.2	-	5	1231	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	364			R -> Q (in HH11; the patient also carries a mutation in FGFR1). {ECO:0000269|PubMed:23643382}.		aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.R364Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAGCCAGCTCGAAATCTGAG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0						uc003hxe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1090-1092)CGA>CAA		tachykinin receptor 3		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	53.0	53.0		1091	5.8	1.0	4	dbSNP_134	53	0,8600		0,0,4300	no	missense	TACR3	NM_001059.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	364/466	104511146	1,13005	2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511146C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1091G>A	4.37:g.104511146C>T	ENSP00000303325:p.Arg364Gln						p.R364Q	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1234	-		Hepatocellular(203;0.217)	364			Cytoplasmic (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1091G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633772	0.96682	2.27E-4	0.0	ENSG00000169836	ENST00000304883	T	0.57273	0.41	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81837	-0.0749	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	364	P29371	NK3R_HUMAN	Q	364	ENSP00000303325:R364Q	ENSP00000303325:R364Q	R	-	2	0	TACR3	104730595	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	7.356000	0.79445	2.746000	0.94184	0.591000	0.81541	CGA		0.428	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	30	0	0	0	0.001984	0	7	30				
FAT4	79633	broad.mit.edu	37	4	126411064	126411064	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:126411064G>C	ENST00000394329.3	+	17	13100	c.13087G>C	c.(13087-13089)Gat>Cat	p.D4363H	FAT4_ENST00000335110.5_Missense_Mutation_p.D2604H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4363	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D4363H(1)|p.D4306H(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAGGTTTTGATGGCTGCAT	0.408																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13087-13089)GAT>CAT		FAT tumor suppressor homolog 4 precursor							122.0	128.0	126.0					4																	126411064		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411064G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13087G>C	4.37:g.126411064G>C	ENSP00000377862:p.Asp4363His					FAT4_uc011cgp.1_Missense_Mutation_p.D2604H|FAT4_uc003ifi.1_Missense_Mutation_p.D1840H	p.D4363H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13087	+			4363			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13087G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962650	0.34659	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78126	-1.15;-1.15	5.27	2.97	0.34412	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.211607	0.21869	U	0.067905	T	0.76997	0.4066	L	0.52759	1.655	0.34544	D	0.710571	B;P;B	0.42518	0.343;0.782;0.343	B;P;B	0.51777	0.445;0.679;0.324	T	0.80254	-0.1459	10	0.59425	D	0.04	.	5.5486	0.17078	0.212:0.0:0.6395:0.1486	.	2604;4363;4362	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4363;2604	ENSP00000377862:D4363H;ENSP00000335169:D2604H	ENSP00000335169:D2604H	D	+	1	0	FAT4	126630514	1.000000	0.71417	0.670000	0.29842	0.763000	0.43281	3.281000	0.51685	0.877000	0.35895	0.561000	0.74099	GAT		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	178	0	0	0	0.006122	0	18	178				
VEGFC	7424	broad.mit.edu	37	4	177649043	177649043	+	Silent	SNP	C	C	T	rs560722685		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:177649043C>T	ENST00000280193.2	-	3	856	c.441G>A	c.(439-441)gcG>gcA	p.A147A	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	147					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.A147A(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGGTGTTTGTCGCGACTCCAA	0.498																																							uc003ius.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(439-441)GCG>GCA		vascular endothelial growth factor C							117.0	119.0	118.0					4																	177649043		2006	4177	6183	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177649043C>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.441G>A	4.37:g.177649043C>T							p.A147A	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	3	871	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	147					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.441G>A	CCDS43285.1																																																																																				0.498	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		15	69	0	0	0	0.00499	0	15	69				
FAT1	2195	broad.mit.edu	37	4	187522452	187522452	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:187522452C>T	ENST00000441802.2	-	21	11820	c.11611G>A	c.(11611-11613)Gct>Act	p.A3871T	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3871	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.A3874T(1)|p.A3871T(1)		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						GTTCCTCGAGCATACATGACA	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11611-11613)GCT>ACT		FAT tumor suppressor 1 precursor							140.0	140.0	140.0					4																	187522452		1931	4138	6069	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.chr4:187522452C>T	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.11611G>A	4.37:g.187522452C>T	ENSP00000406229:p.Ala3871Thr	HNSCC(5;0.00058)					p.A3871T	NM_005245	NP_005236	Q14517	FAT1_HUMAN			21	11799	-			3871			Extracellular (Potential).|Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11611G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.599006	0.13939	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.77877	-1.13	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.107359	0.64402	D	0.000007	T	0.81767	0.4892	L	0.43757	1.38	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.73582	-0.3937	10	0.05436	T	0.98	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	3871	Q14517	FAT1_HUMAN	T	3871;3873	ENSP00000406229:A3871T	ENSP00000260147:A3873T	A	-	1	0	FAT1	187759446	1.000000	0.71417	0.783000	0.31826	0.034000	0.12701	5.721000	0.68477	2.826000	0.97356	0.655000	0.94253	GCT		0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	45	0	0	0	0.008291	0	10	45				
EXOC3	11336	broad.mit.edu	37	5	466932	466932	+	Silent	SNP	A	A	T	rs376364824		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:466932A>T	ENST00000512944.1	+	13	2346	c.2157A>T	c.(2155-2157)ccA>ccT	p.P719P	EXOC3_ENST00000315013.5_Silent_p.P719P|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	730					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.P719P(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCAGGGCCCAGCACAGGCCA	0.657																																							uc003jba.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2155-2157)CCA>CCT		Sec6 protein							41.0	53.0	49.0					5																	466932		2162	4260	6422	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:466932A>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2157A>T	5.37:g.466932A>T						uc003jbb.1_5'Flank	p.P719P	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2285	+		Ovarian(839;0.0563)	730					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.2157A>T	CCDS54830.1																																																																																				0.657	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		7	17	0	0	0	0.00308	0	7	17				
CAPSL	133690	broad.mit.edu	37	5	35910605	35910605	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:35910605C>A	ENST00000397367.2	-	3	304	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	CAPSL_ENST00000397366.1_Missense_Mutation_p.D60Y|CAPSL_ENST00000514524.1_Missense_Mutation_p.D60Y	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.D60Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTTAAAATCAAGGGTTCGA	0.323																																							uc003jjt.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(178-180)GAT>TAT		calcyphosine-like							64.0	67.0	66.0					5																	35910605		2202	4300	6502	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910605C>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.178G>T	5.37:g.35910605C>A	ENSP00000380524:p.Asp60Tyr					CAPSL_uc003jju.1_Missense_Mutation_p.D60Y	p.D60Y	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	273	-	all_lung(31;0.000268)		60			EF-hand 1.|1 (Potential).			Missense_Mutation	SNP	ENST00000397367.2	37	c.178G>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135388	0.77662	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.26	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	H	0.97465	4.01	0.80722	D	1	D	0.61080	0.989	D	0.67725	0.953	D	0.94193	0.7443	10	0.72032	D	0.01	-23.2007	18.8657	0.92292	0.0:1.0:0.0:0.0	.	60	Q8WWF8	CAPSL_HUMAN	Y	60	ENSP00000380524:D60Y;ENSP00000380523:D60Y;ENSP00000424806:D60Y;ENSP00000421018:D60Y	ENSP00000380523:D60Y	D	-	1	0	CAPSL	35946362	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.298000	0.78815	2.454000	0.82982	0.407000	0.27541	GAT		0.323	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		6	61	1	0	2.7689e-08	0.001984	3.92781e-08	6	61				
ACTBL2	345651	broad.mit.edu	37	5	56777979	56777979	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:56777979G>T	ENST00000423391.1	-	1	657	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	186						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L186M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TAATCAGTCAGGTCTCTCCCT	0.527																																							uc003jrm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(556-558)CTG>ATG		actin, beta-like 2							97.0	80.0	86.0					5																	56777979		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777979G>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.556C>A	5.37:g.56777979G>T	ENSP00000416706:p.Leu186Met						p.L186M	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	658	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	186					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.556C>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903338	0.52333	.	.	ENSG00000169067	ENST00000423391	D	0.96830	-4.14	4.77	4.77	0.60923	.	0.000000	0.49916	D	0.000123	D	0.98635	0.9543	H	0.97186	3.955	0.51767	D	0.999935	P	0.36974	0.576	P	0.55222	0.771	D	0.99793	1.1032	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:1.0:0.0	.	186	Q562R1	ACTBL_HUMAN	M	186	ENSP00000416706:L186M	ENSP00000416706:L186M	L	-	1	2	ACTBL2	56813736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.570000	0.73996	2.452000	0.82932	0.655000	0.94253	CTG		0.527	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		4	81	1	0	0.00024832	0.000248	0.000299041	4	81				
ARSK	153642	broad.mit.edu	37	5	94922387	94922387	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:94922387A>G	ENST00000380009.4	+	5	1026	c.821A>G	c.(820-822)aAt>aGt	p.N274S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	274					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)	p.N274S(1)		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)		GAAATTAAGAATATTAGAGCA	0.308																																							uc003kld.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(820-822)AAT>AGT		arylsulfatase K precursor							62.0	66.0	64.0					5																	94922387		2202	4298	6500	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94922387A>G		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.821A>G	5.37:g.94922387A>G	ENSP00000369346:p.Asn274Ser					ARSK_uc010jbg.2_Missense_Mutation_p.N115S|ARSK_uc011cum.1_RNA	p.N274S	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	5	979	+		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)	274					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.821A>G	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	7.994	0.753834	0.15778	.	.	ENSG00000164291	ENST00000380009	D	0.98296	-4.85	5.93	5.93	0.95920	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.417845	0.29916	N	0.010875	D	0.95752	0.8618	L	0.42686	1.345	0.32895	D	0.512337	B	0.12013	0.005	B	0.10450	0.005	D	0.94894	0.8050	10	0.31617	T	0.26	-16.5432	10.4709	0.44635	0.8865:0.0:0.1135:0.0	.	274	Q6UWY0	ARSK_HUMAN	S	274	ENSP00000369346:N274S	ENSP00000369346:N274S	N	+	2	0	ARSK	94948143	1.000000	0.71417	0.859000	0.33776	0.729000	0.41735	2.411000	0.44600	2.258000	0.74832	0.533000	0.62120	AAT		0.308	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		7	52	0	0	0	0.00308	0	7	52				
LECT2	3950	broad.mit.edu	37	5	135276978	135276978	+	Intron	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:135276978C>T	ENST00000522943.1	-	3	418				FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000297158.9_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.T308M(1)|p.T150M(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAATTCGAGACGTTCTTCAAA	0.393																																							uc010jec.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(922-924)ACG>ATG		F-box and leucine-rich repeat protein 21							121.0	117.0	118.0					5																	135276978		1866	4096	5962	SO:0001627	intron_variant	26223				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr5:135276978C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+9933G>A	5.37:g.135276978C>T						FBXL21_uc003lbc.2_Intron	p.T308M	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	944	+			308					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37	c.923C>T																																																																																					0.393	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302		7	92	0	0	0	0.001984	0	7	92				
KLHL3	26249	broad.mit.edu	37	5	136969802	136969802	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:136969802G>A	ENST00000309755.4	-	12	1817	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	KLHL3_ENST00000506491.1_Silent_p.S376S|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000508657.1_Silent_p.S426S|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	458					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.S458S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCTCCACAGTGCTCAGACACT	0.567																																							uc010jek.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1372-1374)AGC>AGT		kelch-like 3							113.0	100.0	105.0					5																	136969802		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136969802G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1374C>T	5.37:g.136969802G>A						KLHL3_uc011cyc.1_Silent_p.S193S|KLHL3_uc003lbr.3_Silent_p.S376S|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Silent_p.S193S	p.S458S	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	12	1818	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	458			Kelch 4.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1374C>T	CCDS4192.1																																																																																				0.567	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			21	101	0	0	0	0.001523	0	21	101				
PCDHA7	56141	broad.mit.edu	37	5	140215061	140215061	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140215061C>G	ENST00000525929.1	+	1	1093	c.1093C>G	c.(1093-1095)Cca>Gca	p.P365A	PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	365	Cadherin 4. {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)	p.P365A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCCCAACCAGGTACCGT	0.502																																					NSCLC(160;258 2013 5070 22440 28951)	NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1093-1095)CCA>GCA		protocadherin alpha 7 isoform 1 precursor							166.0	153.0	158.0					5																	140215061		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215061C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1093C>G	5.37:g.140215061C>G	ENSP00000436426:p.Pro365Ala					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_uc011dac.1_Missense_Mutation_p.P365A	p.P365A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1093	+			365			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1093C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481660	0.01027	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01599	4.74;4.74	4.04	2.13	0.27403	Cadherin (3);Cadherin-like (1);	2.502700	0.04220	U	0.333392	T	0.03095	0.0091	L	0.38531	1.155	0.09310	N	1	B;B	0.31274	0.256;0.317	B;B	0.37387	0.159;0.248	T	0.54669	-0.8259	10	0.15499	T	0.54	.	13.5422	0.61681	0.0:0.5418:0.4582:0.0	.	365;365	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	A	365	ENSP00000436426:P365A;ENSP00000367365:P365A	ENSP00000367365:P365A	P	+	1	0	PCDHA7	140195245	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.277000	0.18734	0.247000	0.21414	0.305000	0.20034	CCA		0.502	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		7	147	0	0	0	0.001984	0	7	147				
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140482066G>T	ENST00000231130.2	+	1	1833	c.1833G>T	c.(1831-1833)gaG>gaT	p.E611D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	611	Cadherin 6. {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)	p.E611D(1)		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)			AGGCCACGGAGCCCGGGCTGT	0.706																																							uc003lio.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1831-1833)GAG>GAT		protocadherin beta 3 precursor							20.0	22.0	21.0					5																	140482066		1965	3899	5864	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482066G>T	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.1833G>T	5.37:g.140482066G>T	ENSP00000231130:p.Glu611Asp					uc003lin.2_5'Flank	p.E611D	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1833	+			611			Extracellular (Potential).|Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1833G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066762	0.36470	.	.	ENSG00000113205	ENST00000231130	T	0.54479	0.57	4.23	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42426	0.1202	N	0.03891	-0.335	0.28985	N	0.888417	P	0.41131	0.739	P	0.55965	0.788	T	0.30621	-0.9972	9	0.37606	T	0.19	.	8.0235	0.30423	0.1028:0.262:0.6352:0.0	.	611	Q9Y5E6	PCDB3_HUMAN	D	611	ENSP00000231130:E611D	ENSP00000231130:E611D	E	+	3	2	PCDHB3	140462250	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.799000	0.04560	2.065000	0.61736	0.556000	0.70494	GAG		0.706	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		8	99	1	0	1.06961e-07	0.00308	1.49482e-07	8	99				
PCDHB8	56128	broad.mit.edu	37	5	140559195	140559195	+	Missense_Mutation	SNP	C	C	A	rs550109182		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140559195C>A	ENST00000239444.2	+	1	1825	c.1580C>A	c.(1579-1581)gCg>gAg	p.A527E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	527	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)	p.A527E(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCAGGCGTTCGAGTTC	0.687																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1579-1581)GCG>GAG		protocadherin beta 8 precursor							89.0	146.0	127.0					5																	140559195		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559195C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1580C>A	5.37:g.140559195C>A	ENSP00000239444:p.Ala527Glu					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.A527E	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1766	+			527			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1580C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	0.222	-1.027777	0.02045	.	.	ENSG00000120322	ENST00000239444	T	0.03272	3.99	4.22	-0.0516	0.13826	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.01789	-0.72	0.09310	N	1	B	0.13594	0.008	B	0.26310	0.068	T	0.49881	-0.8892	9	0.08837	T	0.75	.	7.7572	0.28932	0.6417:0.2691:0.0:0.0891	.	527	Q9UN66	PCDB8_HUMAN	E	527	ENSP00000239444:A527E	ENSP00000239444:A527E	A	+	2	0	PCDHB8	140539379	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.529000	0.06186	-0.027000	0.13873	-1.347000	0.01240	GCG		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		13	233	1	0	3.45872e-05	0.004007	4.37949e-05	13	233				
SLC25A2	83884	broad.mit.edu	37	5	140683346	140683346	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140683346G>A	ENST00000239451.4	-	1	266	c.87C>T	c.(85-87)ccC>ccT	p.P29P		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	29					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P29P(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTGTGTCGAAGGGCTGCCCAG	0.602																																							uc003ljf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(85-87)CCC>CCT		solute carrier family 25 member 2	L-Ornithine(DB00129)						73.0	71.0	72.0					5																	140683346		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683346G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.87C>T	5.37:g.140683346G>A							p.P29P	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	267	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	29			Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.87C>T	CCDS4258.1																																																																																				0.602	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		9	57	0	0	0	0.004482	0	9	57				
GRIA1	2890	broad.mit.edu	37	5	153029928	153029928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:153029928G>C	ENST00000285900.5	+	4	842	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	GRIA1_ENST00000518142.1_Missense_Mutation_p.E87Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.E167Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.E177Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.E177Q|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.E98Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	167					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.E167Q(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACAGCTGCTGAGAAGAACTG	0.498																																							uc003lva.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(499-501)GAG>CAG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						105.0	100.0	101.0					5																	153029928		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153029928G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.499G>C	5.37:g.153029928G>C	ENSP00000285900:p.Glu167Gln					GRIA1_uc003luy.3_Missense_Mutation_p.E167Q|GRIA1_uc003luz.3_Missense_Mutation_p.E72Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E87Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E98Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E177Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E177Q|GRIA1_uc010jia.1_Missense_Mutation_p.E147Q	p.E167Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	864	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	167			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.499G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066766	0.55539	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.33	5.33	0.75918	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.39633	1.23	0.80722	D	1	D;D;B;D;D;B	0.76494	0.999;0.999;0.004;0.999;0.998;0.017	D;D;B;D;D;B	0.81914	0.995;0.995;0.018;0.995;0.993;0.024	T	0.06058	-1.0848	10	0.09843	T	0.71	.	18.0104	0.89221	0.0:0.0:1.0:0.0	.	177;177;87;177;167;167	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Q	167;167;87;121;167;98;98;177;177	ENSP00000285900:E167Q;ENSP00000427920:E87Q;ENSP00000339343:E167Q;ENSP00000427864:E98Q;ENSP00000442108:E98Q;ENSP00000428994:E177Q;ENSP00000415569:E177Q	ENSP00000285900:E167Q	E	+	1	0	GRIA1	153010121	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	6.219000	0.72231	2.497000	0.84241	0.650000	0.86243	GAG		0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	87	0	0	0	0.000248	0	3	87				
CDHR2	54825	broad.mit.edu	37	5	176022636	176022636	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:176022636C>A	ENST00000510636.1	+	32	4170	c.3896C>A	c.(3895-3897)tCc>tAc	p.S1299Y	CDHR2_ENST00000506348.1_Missense_Mutation_p.S1299Y|CDHR2_ENST00000261944.5_Missense_Mutation_p.S1299Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1299					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)	p.S1299Y(1)		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						GAGGGGCCATCCTACACCAAC	0.637																																							uc003mem.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3895-3897)TCC>TAC		protocadherin LKC precursor							117.0	119.0	118.0					5																	176022636		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.chr5:176022636C>A	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.3896C>A	5.37:g.176022636C>A	ENSP00000424565:p.Ser1299Tyr					CDHR2_uc003men.1_Missense_Mutation_p.S1299Y	p.S1299Y	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			32	3962	+			1299			Cytoplasmic (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3896C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661232	0.29515	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.58506	0.33;0.33;0.33	3.8	0.43	0.16515	.	.	.	.	.	T	0.44726	0.1307	L	0.50333	1.59	0.28110	N	0.931059	P	0.36616	0.561	B	0.31101	0.124	T	0.40979	-0.9534	9	0.72032	D	0.01	-9.9863	6.4357	0.21821	0.0:0.5404:0.3515:0.1081	.	1299	Q9BYE9	CDHR2_HUMAN	Y	1299	ENSP00000424565:S1299Y;ENSP00000261944:S1299Y;ENSP00000421078:S1299Y	ENSP00000261944:S1299Y	S	+	2	0	CDHR2	175955242	0.001000	0.12720	0.419000	0.26584	0.026000	0.11368	-0.019000	0.12546	0.307000	0.22880	0.555000	0.69702	TCC		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		24	97	1	0	7.01153e-11	0.007291	1.06968e-10	24	97				
TMED9	54732	broad.mit.edu	37	5	177020659	177020659	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:177020659G>A	ENST00000332598.6	+	3	351	c.294G>A	c.(292-294)ctG>ctA	p.L98L	TMED9_ENST00000507578.1_3'UTR	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	98	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)	p.L98L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCATCCTGGCCCGGCAGT	0.502																																							uc003mhx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(292-294)CTG>CTA		transmembrane emp24 protein transport domain							163.0	155.0	158.0					5																	177020659		2203	4300	6503	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177020659G>A	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.294G>A	5.37:g.177020659G>A						TMED9_uc010jko.2_RNA	p.L98L	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	297	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	98			GOLD.|Lumenal (Potential).		Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.294G>A	CCDS4428.1																																																																																				0.502	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		13	147	0	0	0	0.00245	0	13	147				
FAM153C	653316	broad.mit.edu	37	5	177468724	177468724	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:177468724C>T	ENST00000507848.1	+	7	365	c.164C>T	c.(163-165)cCa>cTa	p.P55L	FAM153C_ENST00000398106.2_Missense_Mutation_p.P55L|FAM153C_ENST00000511189.1_Missense_Mutation_p.P84L			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	55								p.P132L(1)|p.P55L(1)		kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCATCTGCCAGGGCAGACA	0.493																																							uc011dge.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(163-165)CCA>CTA		hypothetical protein LOC653316							53.0	63.0	60.0					5																	177468724		2117	4245	6362	SO:0001583	missense	653316							g.chr5:177468724C>T	BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.164C>T	5.37:g.177468724C>T	ENSP00000424623:p.Pro55Leu					FAM153C_uc003mig.1_Missense_Mutation_p.P55L	p.P55L	NM_001079527	NP_001072995			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	365	+	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						A4IF33|B2RUV5|B7ZW12	Missense_Mutation	SNP	ENST00000507848.1	37	c.164C>T		.	.	.	.	.	.	.	.	.	.	C	10.21	1.286754	0.23478	.	.	ENSG00000204677	ENST00000507848;ENST00000398106;ENST00000511856;ENST00000511189	.	.	.	0.506	0.506	0.16961	.	.	.	.	.	T	0.62841	0.2461	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.78314	0.991	T	0.50021	-0.8876	6	0.87932	D	0	.	.	.	.	.	55	Q494X1	F153C_HUMAN	L	55;55;132;84	.	ENSP00000381177:P55L	P	+	2	0	FAM153C	177401330	0.069000	0.21087	0.002000	0.10522	0.039000	0.13416	0.765000	0.26546	0.598000	0.29829	0.121000	0.15741	CCA		0.493	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1	NM_001079527		28	286	0	0	0	0.007291	0	28	286				
EXOC2	55770	broad.mit.edu	37	6	633069	633069	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:633069G>C	ENST00000230449.4	-	3	302	c.167C>G	c.(166-168)tCt>tGt	p.S56C	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	56	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S56C(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTACTTGCAGACATCCATTC	0.413																																							uc003mtd.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(166-168)TCT>TGT		Sec5 protein							137.0	116.0	123.0					6																	633069		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:633069G>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.167C>G	6.37:g.633069G>C	ENSP00000230449:p.Ser56Cys					EXOC2_uc003mte.2_Missense_Mutation_p.S56C|EXOC2_uc011dho.1_Intron	p.S56C	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	3	301	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	56			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.167C>G	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848976	0.91277	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.81078	-1.45;-1.45	5.55	5.55	0.83447	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91845	0.7419	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93219	0.6607	10	0.87932	D	0	-0.0019	19.5025	0.95103	0.0:0.0:1.0:0.0	.	56	Q96KP1	EXOC2_HUMAN	C	56	ENSP00000230449:S56C;ENSP00000406400:S56C	ENSP00000230449:S56C	S	-	2	0	EXOC2	578069	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.471000	0.97696	2.605000	0.88082	0.655000	0.94253	TCT		0.413	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		4	111	0	0	0	0.000248	0	4	111				
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Silent	SNP	G	G	T	rs199594233		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:10764813G>T	ENST00000313243.2	-	14	2126	c.1744C>A	c.(1744-1746)Cgg>Agg	p.R582R	MAK_ENST00000354489.2_Silent_p.R582R|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Silent_p.R582R|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398																																							uc003mzl.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(1744-1746)CGG>AGG		male germ cell-associated kinase							88.0	90.0	89.0					6																	10764813		2203	4300	6503	SO:0001819	synonymous_variant	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10764813G>T		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1744C>A	6.37:g.10764813G>T						SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.R582R	p.R582R	NM_005906	NP_005897	P20794	MAK_HUMAN			13	1973	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	582					F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	c.1744C>A	CCDS4516.1																																																																																				0.398	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		30	94	1	0	4.3181e-19	0.002836	7.29565e-19	30	94				
MYLIP	29116	broad.mit.edu	37	6	16145361	16145361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:16145361C>G	ENST00000356840.3	+	6	1259	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	MYLIP_ENST00000349606.4_Nonsense_Mutation_p.S173*	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	354					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S354*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGAAGTCCTCAGAAAGCAGC	0.577																																							uc003nbq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1060-1062)TCA>TGA		myosin regulatory light chain interacting							80.0	82.0	82.0					6																	16145361		2203	4300	6503	SO:0001587	stop_gained	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145361C>G	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1061C>G	6.37:g.16145361C>G	ENSP00000349298:p.Ser354*					MYLIP_uc003nbr.2_Nonsense_Mutation_p.S173*	p.S354*	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		6	1298	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	354					Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Nonsense_Mutation	SNP	ENST00000356840.3	37	c.1061C>G	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.531399	0.98342	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.87	5.87	0.94306	.	0.299614	0.38217	N	0.001769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	354;173	.	ENSP00000008686:S173X	S	+	2	0	MYLIP	16253340	0.852000	0.29690	0.032000	0.17829	0.624000	0.37722	2.245000	0.43133	2.941000	0.99782	0.655000	0.94253	TCA		0.577	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		17	95	0	0	0	0.00499	0	17	95				
KIAA0319	9856	broad.mit.edu	37	6	24582479	24582479	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:24582479G>C	ENST00000378214.3	-	6	1713	c.1189C>G	c.(1189-1191)Caa>Gaa	p.Q397E	KIAA0319_ENST00000537886.1_Missense_Mutation_p.Q397E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Q397E|KIAA0319_ENST00000535378.1_Missense_Mutation_p.Q388E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Q352E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	397	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q397E(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTACTTACTTGAGAGAGGTTA	0.413																																							uc011djo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1189-1191)CAA>GAA		KIAA0319 precursor							284.0	246.0	259.0					6																	24582479		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24582479G>C	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1189C>G	6.37:g.24582479G>C	ENSP00000367459:p.Gln397Glu					KIAA0319_uc011djp.1_Missense_Mutation_p.Q352E|KIAA0319_uc003neh.1_Missense_Mutation_p.Q397E|KIAA0319_uc011djq.1_Missense_Mutation_p.Q388E|KIAA0319_uc011djr.1_Missense_Mutation_p.Q397E|KIAA0319_uc010jpt.1_5'UTR	p.Q397E	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			6	1426	-			397			PKD 1.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1189C>G	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733581	0.30684	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06608	3.29;3.28;3.29;3.28;3.28	4.22	4.22	0.49857	PKD/Chitinase domain (1);Fibronectin, type III (1);	0.443286	0.20890	N	0.083853	T	0.03434	0.0099	L	0.42744	1.35	0.43683	D	0.996128	B;B;B	0.24258	0.1;0.006;0.007	B;B;B	0.23574	0.047;0.019;0.033	T	0.38243	-0.9670	10	0.30078	T	0.28	-0.0029	16.7793	0.85559	0.0:0.0:1.0:0.0	.	397;388;397	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	E	397;388;352;397;397	ENSP00000439700:Q397E;ENSP00000442403:Q388E;ENSP00000401086:Q352E;ENSP00000367459:Q397E;ENSP00000437656:Q397E	ENSP00000367459:Q397E	Q	-	1	0	KIAA0319	24690458	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.374000	0.52402	2.156000	0.67533	0.484000	0.47621	CAA		0.413	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		9	158	0	0	0	0.004482	0	9	158				
TRIM10	10107	broad.mit.edu	37	6	30124730	30124730	+	Missense_Mutation	SNP	A	A	G	rs558693422	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:30124730A>G	ENST00000449742.2	-	5	956	c.881T>C	c.(880-882)aTg>aCg	p.M294T	TRIM10_ENST00000376704.3_Missense_Mutation_p.M294T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.M294T(1)		ovary(1)	1						AAACATCTTCATCTCCCTCTG	0.602																																							uc003npo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(880-882)ATG>ACG		tripartite motif-containing 10 isoform 1							55.0	59.0	58.0					6																	30124730		1508	2708	4216	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30124730A>G	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.881T>C	6.37:g.30124730A>G	ENSP00000397073:p.Met294Thr					TRIM10_uc003npn.2_Missense_Mutation_p.M294T	p.M294T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			5	957	-			294			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.881T>C	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	A	8.835	0.940951	0.18281	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.63913	-0.07;0.07	5.5	5.5	0.81552	B30.2/SPRY domain (1);	0.331667	0.30235	N	0.010090	T	0.35885	0.0947	L	0.36672	1.1	0.27785	N	0.943008	B;B	0.32467	0.156;0.372	B;B	0.30316	0.026;0.114	T	0.40961	-0.9535	10	0.87932	D	0	.	12.2744	0.54726	1.0:0.0:0.0:0.0	.	294;294	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	294	ENSP00000397073:M294T;ENSP00000365894:M294T	ENSP00000365894:M294T	M	-	2	0	TRIM10	30232709	0.083000	0.21467	1.000000	0.80357	0.215000	0.24574	2.929000	0.48916	2.221000	0.72209	0.523000	0.50628	ATG		0.602	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			11	40	0	0	0	0.008291	0	11	40				
DEF6	50619	broad.mit.edu	37	6	35280244	35280244	+	Missense_Mutation	SNP	G	G	T	rs200254432		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:35280244G>T	ENST00000316637.5	+	4	594	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	197						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V197L(1)|p.V197M(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CCTGCGGGGCGTGGGCCGGGA	0.657																																							uc003okk.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(589-591)GTG>TTG		differentially expressed in FDCP 6 homolog							33.0	39.0	37.0					6																	35280244		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280244G>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.589G>T	6.37:g.35280244G>T	ENSP00000319831:p.Val197Leu					DEF6_uc010jvs.2_Missense_Mutation_p.V197L|DEF6_uc010jvt.2_Intron	p.V197L	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			4	628	+			197					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.589G>T	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.36|14.36	2.512650|2.512650	0.44660|0.44660	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000444278|ENST00000394658;ENST00000316637	.|T	.|0.12672	.|2.66	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.188756	.|0.51477	.|D	.|0.000094	T|T	0.02688|0.02688	0.0081|0.0081	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B;P	.|0.36378	.|0.352;0.55	.|B;B	.|0.22386	.|0.018;0.039	T|T	0.43718|0.43718	-0.9374|-0.9374	5|10	.|0.26408	.|T	.|0.33	-40.7828|-40.7828	7.5186|7.5186	0.27614|0.27614	0.198:0.0:0.802:0.0|0.198:0.0:0.802:0.0	.|.	.|197;197	.|B2RBP7;Q9H4E7	.|.;DEFI6_HUMAN	L|L	105|160;197	.|ENSP00000319831:V197L	.|ENSP00000319831:V197L	R|V	+|+	2|1	0|0	DEF6|DEF6	35388222|35388222	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.125000|5.125000	0.64715|0.64715	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.657	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		10	40	1	0	1.76689e-08	0.006214	2.52541e-08	10	40				
LRFN2	57497	broad.mit.edu	37	6	40400795	40400795	+	Missense_Mutation	SNP	C	C	A	rs149939756		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:40400795C>A	ENST00000338305.6	-	2	600	c.58G>T	c.(58-60)Gcc>Tcc	p.A20S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	20						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A20S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGGGGCAGGCGTCGACCACG	0.602																																							uc003oph.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(58-60)GCC>TCC		leucine rich repeat and fibronectin type III							42.0	45.0	44.0					6																	40400795		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400795C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.58G>T	6.37:g.40400795C>A	ENSP00000345985:p.Ala20Ser						p.A20S	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	523	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		20					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.58G>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608893	0.46527	.	.	ENSG00000156564	ENST00000338305	T	0.56444	0.46	5.67	5.67	0.87782	Leucine-rich repeat-containing N-terminal (1);	0.048882	0.85682	D	0.000000	T	0.23410	0.0566	L	0.37561	1.115	0.52501	D	0.999959	B	0.22683	0.073	B	0.17433	0.018	T	0.06303	-1.0834	10	0.09338	T	0.73	.	13.3206	0.60430	0.158:0.842:0.0:0.0	.	20	Q9ULH4	LRFN2_HUMAN	S	20	ENSP00000345985:A20S	ENSP00000345985:A20S	A	-	1	0	LRFN2	40508773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.236000	0.51336	2.697000	0.92050	0.655000	0.94253	GCC		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	48	1	0	7.48243e-07	0.006214	1.01075e-06	9	48				
BYSL	705	broad.mit.edu	37	6	41897940	41897940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:41897940G>T	ENST00000230340.4	+	3	877	c.502G>T	c.(502-504)Gag>Tag	p.E168*		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	168					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E168*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTCATGTCAGAGGTGTCGGG	0.597																																							uc003orl.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(502-504)GAG>TAG		bystin							62.0	64.0	63.0					6																	41897940		2203	4300	6503	SO:0001587	stop_gained	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41897940G>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.502G>T	6.37:g.41897940G>T	ENSP00000230340:p.Glu168*						p.E168*	NM_004053	NP_004044	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	838	+	Colorectal(47;0.121)		168					Q6P5W4|Q86W44|Q96IP8	Nonsense_Mutation	SNP	ENST00000230340.4	37	c.502G>T	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821794	0.90873	.	.	ENSG00000112578	ENST00000230340	.	.	.	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.8635	16.895	0.86098	0.0:0.1283:0.8717:0.0	.	.	.	.	X	168	.	ENSP00000230340:E168X	E	+	1	0	BYSL	42005918	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.730000	0.84881	1.504000	0.48704	0.549000	0.68633	GAG		0.597	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			8	68	1	0	0.00448238	0.004482	0.00511498	8	68				
CRISP3	10321	broad.mit.edu	37	6	49698963	49698963	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:49698963C>A	ENST00000393666.1	-	6	529	c.523G>T	c.(523-525)Ggt>Tgt	p.G175C	CRISP3_ENST00000423399.2_Splice_Site_p.G85C|CRISP3_ENST00000263045.4_Splice_Site_p.G188C|CRISP3_ENST00000371159.4_Splice_Site_p.G206C|CRISP3_ENST00000433368.2_Splice_Site_p.G198C			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	175					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.G175C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCCCAATTACCACTGAAATTT	0.333																																							uc003ozs.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(523-525)GGT>TGT		cysteine-rich secretory protein 3 precursor							81.0	75.0	77.0					6																	49698963		2203	4300	6503	SO:0001630	splice_region_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698963C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.522-1G>T	6.37:g.49698963C>A							p.G175C	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	538	-	Lung NSC(77;0.0161)		175					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.523G>T		.	.	.	.	.	.	.	.	.	.	C	16.79	3.220735	0.58560	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.59364	2.3;2.3;2.3;0.27;2.3	4.86	4.86	0.63082	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (2);	0.000000	0.64402	U	0.000008	D	0.83156	0.5193	H	0.98936	4.375	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.89279	0.3610	10	0.87932	D	0	.	13.8141	0.63281	0.0:1.0:0.0:0.0	.	175	P54108	CRIS3_HUMAN	C	188;198;175;85;206	ENSP00000263045:G188C;ENSP00000389026:G198C;ENSP00000377274:G175C;ENSP00000410469:G85C;ENSP00000360201:G206C	ENSP00000263045:G188C	G	-	1	0	CRISP3	49806922	1.000000	0.71417	0.997000	0.53966	0.617000	0.37484	4.620000	0.61226	2.406000	0.81754	0.491000	0.48974	GGT		0.333	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Missense_Mutation	11	70	1	0	0.000673444	0.008291	0.000794103	11	70				
PAQR8	85315	broad.mit.edu	37	6	52268474	52268474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:52268474C>G	ENST00000442253.2	+	2	637	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	PAQR8_ENST00000360726.3_Missense_Mutation_p.Q155E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	155					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.Q155E(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GAGCGTTTACCAATATGGCAG	0.532																																							uc003pao.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)CAA>GAA		progestin and adipoQ receptor family member							188.0	156.0	166.0					6																	52268474		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268474C>G	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.463C>G	6.37:g.52268474C>G	ENSP00000406197:p.Gln155Glu						p.Q155E	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	637	+	Lung NSC(77;0.0875)		155			Cytoplasmic (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.463C>G	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181317	0.78677	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.30714	1.52;1.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59726	-0.7400	9	.	.	.	-20.143	18.1838	0.89787	0.0:1.0:0.0:0.0	.	155	Q8TEZ7	MPRB_HUMAN	E	155	ENSP00000406197:Q155E;ENSP00000353953:Q155E	.	Q	+	1	0	PAQR8	52376433	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	7.818000	0.86416	2.532000	0.85374	0.563000	0.77884	CAA		0.532	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		11	188	0	0	0	0.008291	0	11	188				
DST	667	broad.mit.edu	37	6	56765373	56765373	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:56765373G>T	ENST00000370754.5	-	3	262	c.263C>A	c.(262-264)gCc>gAc	p.A88D				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A88D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCAGCTGCGGCCGCTGCAAC	0.502																																							uc003pdf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(262-264)GCC>GAC		dystonin isoform 2							57.0	55.0	56.0					6																	56765373		1568	3582	5150	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.chr6:56765373G>T	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	ENST00000370754.5:c.263C>A	6.37:g.56765373G>T	ENSP00000359790:p.Ala88Asp						p.A88D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		3	291	-	Lung NSC(77;0.103)		Error:Variant_position_missing_in_Q03001_after_alignment					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	ENST00000370754.5	37	c.263C>A		.	.	.	.	.	.	.	.	.	.	G	11.08	1.532252	0.27387	.	.	ENSG00000151914	ENST00000370754;ENST00000449297	T;D	0.95554	-0.71;-3.74	3.42	3.42	0.39159	.	.	.	.	.	D	0.96513	0.8862	.	.	.	0.22629	N	0.99892	D	0.64830	0.994	D	0.73708	0.981	D	0.95959	0.8960	7	0.56958	D	0.05	.	10.6558	0.45673	0.0:0.0:1.0:0.0	.	88	E9PEB9	.	D	88	ENSP00000359790:A88D;ENSP00000393082:A88D	ENSP00000359790:A88D	A	-	2	0	DST	56873332	0.653000	0.27358	0.720000	0.30636	0.281000	0.26958	3.687000	0.54692	2.207000	0.71202	0.455000	0.32223	GCC		0.502	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		20	92	1	0	1.01871e-10	0.008871	1.54998e-10	20	92				
DDX43	55510	broad.mit.edu	37	6	74123487	74123487	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:74123487T>C	ENST00000370336.4	+	12	1633	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A	DDX43_ENST00000479773.1_3'UTR|MB21D1_ENST00000370318.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	492	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.V492A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAGTCATTGTCTTCGTTTCT	0.323																																							uc003pgw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1474-1476)GTC>GCC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							102.0	98.0	99.0					6																	74123487		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74123487T>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1475T>C	6.37:g.74123487T>C	ENSP00000359361:p.Val492Ala						p.V492A	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			12	1819	+			492			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1475T>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890772	0.33348	.	.	ENSG00000080007	ENST00000370336	T	0.07688	3.17	4.75	4.75	0.60458	Helicase, C-terminal (1);	0.242680	0.40728	N	0.001027	T	0.05686	0.0149	M	0.62266	1.93	0.80722	D	1	B	0.32338	0.365	B	0.30401	0.115	T	0.05937	-1.0855	10	0.62326	D	0.03	-21.1807	13.3515	0.60605	0.0:0.0:0.0:1.0	.	492	Q9NXZ2	DDX43_HUMAN	A	492	ENSP00000359361:V492A	ENSP00000359361:V492A	V	+	2	0	DDX43	74180208	0.993000	0.37304	0.998000	0.56505	0.092000	0.18411	5.709000	0.68384	1.976000	0.57569	0.533000	0.62120	GTC		0.323	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		9	58	0	0	0	0.001368	0	9	58				
HS3ST5	222537	broad.mit.edu	37	6	114378474	114378474	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:114378474G>C	ENST00000312719.5	-	5	2176	c.988C>G	c.(988-990)Cct>Gct	p.P330A	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P330A			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	330					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.P330A(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTAAAAGGATGAAAGAAT	0.408																																							uc003pwg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(988-990)CCT>GCT		heparan sulfate (glucosamine)							64.0	68.0	66.0					6																	114378474		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378474G>C	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.988C>G	6.37:g.114378474G>C	ENSP00000427888:p.Pro330Ala					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P330A	p.P330A	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	1020	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	330			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.988C>G	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826486	0.32329	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.57595	0.39;0.39	6.02	6.02	0.97574	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.83852	2.665	0.51767	D	0.999932	B	0.31435	0.323	B	0.18263	0.021	T	0.53704	-0.8401	10	0.52906	T	0.07	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	330	Q8IZT8	HS3S5_HUMAN	A	330	ENSP00000427888:P330A;ENSP00000440332:P330A	ENSP00000427888:P330A	P	-	1	0	HS3ST5	114485167	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.876000	0.87215	2.865000	0.98341	0.655000	0.94253	CCT		0.408	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		7	72	0	0	0	0.00308	0	7	72				
RFX6	222546	broad.mit.edu	37	6	117249929	117249929	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:117249929T>C	ENST00000332958.2	+	18	2422	c.2406T>C	c.(2404-2406)taT>taC	p.Y802Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	802					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.Y802Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGGATACTATGGAAGCAACA	0.423																																							uc003pxm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2404-2406)TAT>TAC		regulatory factor X, 6							99.0	94.0	96.0					6																	117249929		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117249929T>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2406T>C	6.37:g.117249929T>C							p.Y802Y	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			18	2469	+			802					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.2406T>C	CCDS5113.1																																																																																				0.423	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		7	62	0	0	0	0.001984	0	7	62				
TMEM200A	114801	broad.mit.edu	37	6	130762164	130762164	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:130762164C>T	ENST00000296978.3	+	3	1468	c.597C>T	c.(595-597)agC>agT	p.S199S	TMEM200A_ENST00000545622.1_Silent_p.S199S|TMEM200A_ENST00000392429.1_Silent_p.S199S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	199						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAATGGGAGCTCCTGTGCCT	0.473																																							uc003qca.2		NA																	0				ovary(1)	1						c.(595-597)AGC>AGT		transmembrane protein 200A							89.0	82.0	84.0					6																	130762164		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762164C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.597C>T	6.37:g.130762164C>T						TMEM200A_uc010kfh.2_Silent_p.S199S|TMEM200A_uc010kfi.2_Silent_p.S199S|TMEM200A_uc003qcb.2_Silent_p.S199S	p.S199S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1468	+			199			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.597C>T	CCDS5140.1																																																																																				0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		7	35	0	0	0	0.00308	0	7	35				
BCLAF1	9774	broad.mit.edu	37	6	136594278	136594278	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:136594278A>T	ENST00000531224.1	-	7	2152	c.1900T>A	c.(1900-1902)Tcg>Acg	p.S634T	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S632T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S632T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S632T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S461T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S634T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	634					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S634T(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTGATACGAAGTGAACCGC	0.393																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1900-1902)TCG>ACG		BCL2-associated transcription factor 1 isoform							236.0	236.0	236.0					6																	136594278		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594278A>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1900T>A	6.37:g.136594278A>T	ENSP00000435210:p.Ser634Thr					BCLAF1_uc003qgw.1_Missense_Mutation_p.S461T|BCLAF1_uc003qgy.1_Missense_Mutation_p.S632T|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S632T	p.S634T	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2153	-	Colorectal(23;0.24)		634					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1900T>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077224	0.36662	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.33	2.77	0.32553	.	0.583989	0.15501	N	0.259013	T	0.02848	0.0085	N	0.25647	0.755	0.80722	D	1	B;B;B;P	0.40834	0.114;0.191;0.114;0.73	B;B;B;B	0.35550	0.122;0.095;0.122;0.205	T	0.49652	-0.8917	10	0.23302	T	0.38	3.1731	6.9877	0.24737	0.5811:0.3301:0.0888:0.0	.	632;632;634;461	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	T	634;632;634;461;632;632;634	ENSP00000435210:S634T;ENSP00000229446:S632T;ENSP00000435441:S634T;ENSP00000436501:S461T;ENSP00000434826:S632T;ENSP00000376159:S632T;ENSP00000431734:S634T	ENSP00000229446:S632T	S	-	1	0	BCLAF1	136635971	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.806000	0.55583	0.972000	0.38314	0.482000	0.46254	TCG		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	317	0	0	0	0.008291	0	10	317				
PNLDC1	154197	broad.mit.edu	37	6	160240112	160240112	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:160240112C>A	ENST00000610273.1	+	17	1530	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	PNLDC1_ENST00000392167.3_Silent_p.L464L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	453						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.L453L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAGGCGACTCACAAGAAGCC	0.522																																							uc003qsx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1357-1359)CTC>CTA		poly(A)-specific ribonuclease (PARN)-like domain							93.0	89.0	90.0					6																	160240112		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240112C>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1359C>A	6.37:g.160240112C>A						PNLDC1_uc003qsy.1_Silent_p.L464L	p.L453L	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	17	1530	+		Breast(66;0.00519)|Ovarian(120;0.123)	453			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.1359C>A	CCDS5271.1																																																																																				0.522	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		12	80	1	0	3.07112e-06	0.000978	4.06134e-06	12	80				
SLC29A4	222962	broad.mit.edu	37	7	5340083	5340083	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:5340083G>A	ENST00000396872.3	+	10	1401	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.G400S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.G414S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	414					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.G414S(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GGACTGGCGGGGCACCCACCT	0.711																																							uc003sod.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(1240-1242)GGC>AGC		solute carrier family 29 (nucleoside							56.0	55.0	55.0					7																	5340083		2202	4294	6496	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5340083G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1240G>A	7.37:g.5340083G>A	ENSP00000380081:p.Gly414Ser					SLC29A4_uc003soc.2_Missense_Mutation_p.G414S|SLC29A4_uc003soe.2_Missense_Mutation_p.G400S|SLC29A4_uc010ksw.2_Intron	p.G414S	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	10	1401	+		Ovarian(82;0.0175)	414			Cytoplasmic (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.1240G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.116523	0.77323	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	D;D;D	0.86366	-2.11;-2.11;-2.11	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);	0.058640	0.64402	D	0.000002	D	0.89522	0.6739	L	0.42744	1.35	0.54753	D	0.999989	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.93	D	0.86139	0.1580	10	0.13470	T	0.59	-8.2222	15.1895	0.73032	0.0:0.0:1.0:0.0	.	400;414	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	414;414;400	ENSP00000380081:G414S;ENSP00000297195:G414S;ENSP00000385845:G400S	ENSP00000297195:G414S	G	+	1	0	SLC29A4	5306609	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	8.815000	0.91973	2.006000	0.58801	0.555000	0.69702	GGC		0.711	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		13	58	0	0	0	0.00245	0	13	58				
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19416	0.0		0.003	False		,,,				2504	0.0						uc003sqa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1936-1938)CGG>TGG		diacylglycerol lipase, beta isoform 1		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118.0	112.0	114.0		1549,1936	-0.9	0.2	7	dbSNP_134	114	4,8596		0,4,4296	yes	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	517/544,646/673	6449551	4,13002	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449551G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1936C>T	7.37:g.6449551G>A	ENSP00000297056:p.Arg646Trp					DAGLB_uc003spy.2_Missense_Mutation_p.R192W|DAGLB_uc003spz.2_Missense_Mutation_p.R343W|DAGLB_uc011jwt.1_Missense_Mutation_p.R460W|DAGLB_uc011jwu.1_Missense_Mutation_p.R517W|DAGLB_uc003sqb.2_Missense_Mutation_p.R365W|DAGLB_uc003sqc.2_Missense_Mutation_p.R365W|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.R605W	p.R646W	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2106	-		Ovarian(82;0.232)	646			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1936C>T	CCDS5350.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.79	2.936977	0.52972	0.0	4.65E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.37584	1.19;1.19;1.19	5.79	-0.949	0.10376	.	0.310453	0.33005	N	0.005381	T	0.56688	0.2002	M	0.73598	2.24	0.24550	N	0.994027	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;P;P;P	0.66847	0.947;0.739;0.65;0.798	T	0.61202	-0.7110	10	0.62326	D	0.03	-22.8734	17.4647	0.87629	0.0:0.0:0.6315:0.3685	.	517;460;646;343	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	W	646;517;605	ENSP00000297056:R646W;ENSP00000391171:R517W;ENSP00000404785:R605W	ENSP00000297056:R646W	R	-	1	2	DAGLB	6416076	0.141000	0.22595	0.240000	0.24138	0.416000	0.31233	1.347000	0.33975	-0.397000	0.07691	-0.271000	0.10264	CGG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		7	78	0	0	0	0.001984	0	7	78				
AHR	196	broad.mit.edu	37	7	17375401	17375401	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:17375401G>A	ENST00000242057.4	+	9	1794	c.1151G>A	c.(1150-1152)aGa>aAa	p.R384K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	384	PAC.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R384K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GTAACTCAGAGACCACTAACG	0.353																																							uc011jxz.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1150-1152)AGA>AAA		aryl hydrocarbon receptor precursor							71.0	63.0	66.0					7																	17375401		2202	4300	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17375401G>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1151G>A	7.37:g.17375401G>A	ENSP00000242057:p.Arg384Lys					AHR_uc003stt.3_RNA	p.R384K	NM_001621	NP_001612	P35869	AHR_HUMAN			9	1764	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		384			PAC.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1151G>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555393	0.96514	.	.	ENSG00000106546	ENST00000242057	T	0.06608	3.28	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.00068	-1.2141	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	384	P35869	AHR_HUMAN	K	384	ENSP00000242057:R384K	ENSP00000242057:R384K	R	+	2	0	AHR	17341926	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	AGA		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		6	33	0	0	0	0.004482	0	6	33				
NUPL2	11097	broad.mit.edu	37	7	23221741	23221741	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:23221741C>T	ENST00000258742.5	+	1	296	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	NUPL2_ENST00000410002.3_Missense_Mutation_p.R13C|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	13					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.R13C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGCCGGTGCCGCTTTGGAGA	0.602																																							uc003svu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(37-39)CGC>TGC		nucleoporin like 2							83.0	67.0	73.0					7																	23221741		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23221741C>T	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.37C>T	7.37:g.23221741C>T	ENSP00000258742:p.Arg13Cys					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	p.R13C	NM_007342	NP_031368	O15504	NUPL2_HUMAN			1	296	+			13			C3H1-type.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.37C>T	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922729	0.73213	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.44482	0.92;0.92;0.92	5.14	5.14	0.70334	Zinc finger, CCCH-type (1);	0.059188	0.64402	D	0.000004	T	0.59972	0.2233	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.61013	-0.7148	10	0.87932	D	0	-7.6101	14.0487	0.64722	0.1507:0.8493:0.0:0.0	.	13	O15504	NUPL2_HUMAN	C	13	ENSP00000258742:R13C;ENSP00000387330:R13C;ENSP00000401475:R13C	ENSP00000258742:R13C	R	+	1	0	NUPL2	23188266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.436000	0.52856	2.832000	0.97577	0.655000	0.94253	CGC		0.602	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		7	33	0	0	0	0.001984	0	7	33				
GPNMB	10457	broad.mit.edu	37	7	23299726	23299726	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:23299726C>T	ENST00000381990.2	+	5	830	c.669C>T	c.(667-669)atC>atT	p.I223I	GPNMB_ENST00000453162.2_Silent_p.I165I|GPNMB_ENST00000539136.1_Silent_p.I124I|GPNMB_ENST00000258733.4_Silent_p.I223I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	223					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.I223I(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ATGTTCCCATCGCACAAGTGA	0.463																																							uc003swc.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(3)|breast(2)	5						c.(667-669)ATC>ATT		glycoprotein (transmembrane) nmb isoform a							166.0	150.0	155.0					7																	23299726		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23299726C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.669C>T	7.37:g.23299726C>T						GPNMB_uc003swb.2_Silent_p.I223I|GPNMB_uc011jyy.1_Silent_p.I165I|GPNMB_uc011jyz.1_Silent_p.I124I	p.I223I	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		5	830	+			223			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.669C>T	CCDS34610.1																																																																																				0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		14	124	0	0	0	0.003163	0	14	124				
OSBPL3	26031	broad.mit.edu	37	7	24874132	24874132	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:24874132C>A	ENST00000313367.2	-	15	2170	c.1719G>T	c.(1717-1719)gcG>gcT	p.A573A	OSBPL3_ENST00000396431.1_Silent_p.A542A|OSBPL3_ENST00000352860.1_Silent_p.A542A|OSBPL3_ENST00000431825.2_Silent_p.A506A|OSBPL3_ENST00000409069.1_Silent_p.A506A|OSBPL3_ENST00000353930.1_Silent_p.A537A|OSBPL3_ENST00000396429.1_Silent_p.A537A	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	573					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.A573A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGGGAATCTGCGCGGCCTTGT	0.647																																							uc003sxf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1717-1719)GCG>GCT		oxysterol-binding protein-like protein 3 isoform							64.0	65.0	65.0					7																	24874132		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24874132C>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1719G>T	7.37:g.24874132C>A						OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.A537A|OSBPL3_uc003sxh.2_Silent_p.A542A|OSBPL3_uc003sxi.2_Silent_p.A506A|OSBPL3_uc003sxj.1_Silent_p.A302A|OSBPL3_uc003sxk.1_Silent_p.A271A	p.A573A	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			15	2124	-			573					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1719G>T	CCDS5390.1																																																																																				0.647	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	68	1	0	8.12818e-05	0.001984	9.95791e-05	7	68				
Unknown	0	broad.mit.edu	37	7	28319036	28319036	+	IGR	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:28319036G>T								JAZF1-AS1 (35500 upstream) : CREB5 (19903 downstream)																							AAGATGCCAGGACCTGTACGC	0.488																																							uc010kuz.1		NA																	0					0						c.(283-285)CCT>ACT		hypothetical protein LOC402644							30.0	29.0	30.0					7																	28319036		692	1591	2283	SO:0001628	intergenic_variant	402644							g.chr7:28319036G>T																													7.37:g.28319036G>T							p.P95T	NM_001126493	NP_001119965					1	283	-									Missense_Mutation	SNP		37	c.283C>A																																																																																				0	0.488									8	56	1	0	0.000157383	0.00308	0.000190747	8	56				
HECW1	23072	broad.mit.edu	37	7	43508595	43508595	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:43508595T>A	ENST00000395891.2	+	16	3595	c.2990T>A	c.(2989-2991)tTt>tAt	p.F997Y	HECW1_ENST00000453890.1_Missense_Mutation_p.F963Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	997					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F997Y(1)|p.F976Y(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTCGCAATTTTGAACGCTAC	0.552																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2989-2991)TTT>TAT		NEDD4-like ubiquitin-protein ligase 1							81.0	80.0	80.0					7																	43508595		2020	4206	6226	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43508595T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2990T>A	7.37:g.43508595T>A	ENSP00000379228:p.Phe997Tyr					HECW1_uc011kbi.1_Missense_Mutation_p.F963Y	p.F997Y	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			16	3595	+			997					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2990T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	32	5.157732	0.94686	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84730	-1.89;-1.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89501	0.6733	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.99	D	0.90536	0.4499	10	0.72032	D	0.01	.	15.7507	0.77983	0.0:0.0:0.0:1.0	.	963;997	B4DH42;Q76N89	.;HECW1_HUMAN	Y	997;963;997	ENSP00000379228:F997Y;ENSP00000407774:F963Y	ENSP00000265522:F997Y	F	+	2	0	HECW1	43475120	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.698000	0.84413	2.126000	0.65437	0.397000	0.26171	TTT		0.552	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	61	0	0	0	0.004482	0	9	61				
URGCP	55665	broad.mit.edu	37	7	43927062	43927062	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:43927062C>A	ENST00000453200.1	-	3	557	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	URGCP_ENST00000336086.6_5'UTR|URGCP_ENST00000223341.7_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.A13S|URGCP_ENST00000443736.1_5'UTR|URGCP_ENST00000447717.3_5'UTR|URGCP_ENST00000446958.1_Missense_Mutation_p.A13S|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Missense_Mutation_p.A13S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	22					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A22S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTTCTGGGGCTACTTCTCCC	0.403																																							uc003tiw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(64-66)GCC>TCC		up-regulated gene 4 isoform 3							92.0	82.0	85.0					7																	43927062		1841	4092	5933	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43927062C>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.64G>T	7.37:g.43927062C>A	ENSP00000396918:p.Ala22Ser					URGCP_uc003tiu.2_5'UTR|URGCP_uc003tiv.2_5'UTR|URGCP_uc003tix.2_Missense_Mutation_p.A13S|URGCP_uc003tiy.2_5'UTR|URGCP_uc003tiz.2_5'UTR|URGCP_uc011kbj.1_5'UTR	p.A22S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			3	121	-			22					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.64G>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846565	0.51164	.	.	ENSG00000106608	ENST00000402306;ENST00000453200;ENST00000446958	T;T	0.10382	2.89;2.88	5.17	0.311	0.15831	.	0.322593	0.22670	N	0.057073	T	0.04679	0.0127	N	0.08118	0	0.80722	D	1	B;B	0.30634	0.288;0.288	B;B	0.26969	0.075;0.075	T	0.44174	-0.9345	10	0.52906	T	0.07	-13.4174	7.7926	0.29129	0.0:0.5694:0.0:0.4306	.	13;22	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	13;22;13	ENSP00000384955:A13S;ENSP00000396918:A22S	ENSP00000384955:A13S	A	-	1	0	URGCP	43893587	0.973000	0.33851	0.973000	0.42090	0.995000	0.86356	-0.032000	0.12266	-0.044000	0.13491	0.655000	0.94253	GCC		0.403	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		9	62	1	0	2.17888e-05	0.006214	2.78385e-05	9	62				
IGFBP1	3484	broad.mit.edu	37	7	45930284	45930284	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:45930284G>C	ENST00000275525.3	+	2	783	c.487G>C	c.(487-489)Gct>Cct	p.A163P	IGFBP1_ENST00000457280.1_Missense_Mutation_p.A163P|IGFBP1_ENST00000468955.1_Missense_Mutation_p.A163P	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	163					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)	p.A163P(1)		large_intestine(2)|lung(4)	6						TGGCTCGAAGGCTCTCCATGT	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003tnp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(487-489)GCT>CCT		insulin-like growth factor binding protein 1							115.0	114.0	114.0					7																	45930284		2203	4300	6503	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930284G>C		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.487G>C	7.37:g.45930284G>C	ENSP00000275525:p.Ala163Pro		OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP1_uc003tno.3_Missense_Mutation_p.A163P|IGFBP1_uc010kyn.2_Missense_Mutation_p.A163P	p.A163P	NM_000596	NP_000587	P08833	IBP1_HUMAN			2	780	+			163					A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.487G>C	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219779	0.39201	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.30714	1.53;1.52;2.48	3.9	1.67	0.24075	Thyroglobulin type-1 (1);	0.956107	0.08627	N	0.917608	T	0.38931	0.1059	L	0.46157	1.445	0.09310	N	1	D;B;B	0.60575	0.988;0.245;0.245	P;B;B	0.54664	0.758;0.212;0.169	T	0.25152	-1.0140	10	0.41790	T	0.15	-25.5118	9.2603	0.37608	0.0:0.0:0.6004:0.3996	.	163;163;163	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	P	163	ENSP00000275525:A163P;ENSP00000413511:A163P;ENSP00000417069:A163P	ENSP00000275525:A163P	A	+	1	0	IGFBP1	45896809	0.000000	0.05858	0.011000	0.14972	0.011000	0.07611	-0.226000	0.09139	0.611000	0.30052	0.505000	0.49811	GCT		0.517	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		21	94	0	0	0	0.004656	0	21	94				
ZNF479	90827	broad.mit.edu	37	7	57188235	57188235	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:57188235G>T	ENST00000331162.4	-	5	1157	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P296H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTTGTAGGGTCTCTCTCC	0.473																																							uc010kzo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(886-888)CCC>CAC		zinc finger protein 479							27.0	27.0	27.0					7																	57188235		2039	4189	6228	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188235G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.887C>A	7.37:g.57188235G>T	ENSP00000333776:p.Pro296His						p.P296H	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1158	-			296						Missense_Mutation	SNP	ENST00000331162.4	37	c.887C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.483619	0.44147	.	.	ENSG00000185177	ENST00000331162	T	0.24723	1.84	1.01	1.01	0.19927	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51873	0.1700	M	0.89478	3.035	0.28759	N	0.901007	D	0.89917	1.0	D	0.85130	0.997	T	0.42498	-0.9448	9	0.72032	D	0.01	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	296	Q96JC4	ZN479_HUMAN	H	296	ENSP00000333776:P296H	ENSP00000333776:P296H	P	-	2	0	ZNF479	57192177	1.000000	0.71417	0.086000	0.20670	0.080000	0.17528	6.528000	0.73807	0.453000	0.26858	0.456000	0.33151	CCC		0.473	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	72	1	0	0.000442599	0.006214	0.000528505	8	72				
WBSCR17	64409	broad.mit.edu	37	7	71036294	71036294	+	Silent	SNP	G	G	T	rs144028983	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:71036294G>T	ENST00000333538.5	+	6	1621	c.987G>T	c.(985-987)tcG>tcT	p.S329S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	329	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S329S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGGCTGCTCGTTCGTGGTCA	0.502																																							uc003tvy.2		NA																	1	Substitution - coding silent(1)	p.S329L(1)	lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(985-987)TCG>TCT		UDP-GalNAc:polypeptide							190.0	180.0	183.0					7																	71036294		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71036294G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.987G>T	7.37:g.71036294G>T						WBSCR17_uc003tvz.2_Silent_p.S28S	p.S329S	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			6	987	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	329			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.987G>T	CCDS5540.1																																																																																				0.502	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		11	130	1	0	3.07112e-06	0.000978	4.06134e-06	11	130				
PCLO	27445	broad.mit.edu	37	7	82538271	82538271	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82538271C>A	ENST00000333891.9	-	8	13696	c.13359G>T	c.(13357-13359)ttG>ttT	p.L4453F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4453F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L4453F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCATTTTCCAAACGAGACT	0.443																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13357-13359)TTG>TTT		piccolo isoform 1							109.0	102.0	105.0					7																	82538271		1918	4130	6048	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538271C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13359G>T	7.37:g.82538271C>A	ENSP00000334319:p.Leu4453Phe					PCLO_uc003uhv.2_Missense_Mutation_p.L4453F	p.L4453F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13648	-			4384						Missense_Mutation	SNP	ENST00000333891.9	37	c.13359G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954216	0.34471	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.31	5.39	4.5	0.54988	.	.	.	.	.	T	0.35856	0.0946	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68943	0.935;0.961	T	0.05146	-1.0903	9	0.87932	D	0	.	15.0193	0.71617	0.0:0.9281:0.0:0.0719	.	4453;4453	Q9Y6V0-5;Q9Y6V0-6	.;.	F	4453	ENSP00000334319:L4453F;ENSP00000388393:L4453F	ENSP00000334319:L4453F	L	-	3	2	PCLO	82376207	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.825000	0.39081	2.699000	0.92147	0.591000	0.81541	TTG		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	75	1	0	1.36491e-13	0.001855	2.20726e-13	13	75				
PCLO	27445	broad.mit.edu	37	7	82584133	82584133	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82584133C>T	ENST00000333891.9	-	5	6473	c.6136G>A	c.(6136-6138)Ggt>Agt	p.G2046S	PCLO_ENST00000423517.2_Missense_Mutation_p.G2046S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G2046S(2)|p.G1977S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCATAGTACCCAGGTCCACT	0.398																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(6136-6138)GGT>AGT		piccolo isoform 1							71.0	66.0	68.0					7																	82584133		1872	4115	5987	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584133C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6136G>A	7.37:g.82584133C>T	ENSP00000334319:p.Gly2046Ser					PCLO_uc003uhv.2_Missense_Mutation_p.G2046S	p.G2046S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	6425	-			1977						Missense_Mutation	SNP	ENST00000333891.9	37	c.6136G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146728	0.37923	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15487	2.42;2.42	5.64	5.64	0.86602	.	.	.	.	.	T	0.25195	0.0612	L	0.44542	1.39	0.80722	D	1	P;P	0.49559	0.873;0.925	B;P	0.47075	0.306;0.536	T	0.00589	-1.1656	9	0.87932	D	0	.	19.6979	0.96034	0.0:1.0:0.0:0.0	.	2046;2046	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1977;2046;2046	ENSP00000334319:G2046S;ENSP00000388393:G2046S	ENSP00000334319:G2046S	G	-	1	0	PCLO	82422069	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.733000	0.68571	2.660000	0.90430	0.561000	0.74099	GGT		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	73	0	0	0	0.000602	0	5	73				
PCLO	27445	broad.mit.edu	37	7	82764398	82764398	+	Missense_Mutation	SNP	C	C	A	rs201550435		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82764398C>A	ENST00000333891.9	-	3	2805	c.2468G>T	c.(2467-2469)cGa>cTa	p.R823L	PCLO_ENST00000423517.2_Missense_Mutation_p.R823L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R823L(2)|p.R769L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGATGCAGGTCGAGGTATGGC	0.438																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2467-2469)CGA>CTA		piccolo isoform 1							164.0	155.0	158.0					7																	82764398		1867	4095	5962	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764398C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2468G>T	7.37:g.82764398C>A	ENSP00000334319:p.Arg823Leu					PCLO_uc003uhv.2_Missense_Mutation_p.R823L	p.R823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2757	-			769			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2468G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640594	0.29157	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.3	5.91	3.97	0.46021	.	.	.	.	.	T	0.12092	0.0294	L	0.34521	1.04	0.58432	D	0.999994	P;P	0.37573	0.6;0.6	B;B	0.37346	0.247;0.247	T	0.03335	-1.1047	9	0.87932	D	0	.	4.3991	0.11377	0.0:0.5785:0.1941:0.2274	.	823;823	Q9Y6V0-5;Q9Y6V0-6	.;.	L	769;823;823	ENSP00000334319:R823L;ENSP00000388393:R823L	ENSP00000334319:R823L	R	-	2	0	PCLO	82602334	0.039000	0.19947	0.997000	0.53966	0.993000	0.82548	0.182000	0.16900	2.799000	0.96334	0.650000	0.86243	CGA		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		28	204	1	0	7.07758e-08	0.004656	9.94022e-08	28	204				
SRI	6717	broad.mit.edu	37	7	87837825	87837825	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:87837825A>G	ENST00000265729.2	-	7	619	c.567T>C	c.(565-567)gaT>gaC	p.D189D	SRI_ENST00000431660.1_Silent_p.D174D|SRI_ENST00000419179.1_Silent_p.D149D|SRI_ENST00000490437.1_Silent_p.D146D|SRI_ENST00000394641.3_Silent_p.D174D	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	189					action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.D189D(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GACTTACATCATCATATGGGA	0.343																																							uc003ujq.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(565-567)GAT>GAC		sorcin isoform a							92.0	90.0	91.0					7																	87837825		2203	4300	6503	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87837825A>G	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.567T>C	7.37:g.87837825A>G						SRI_uc011khg.1_Silent_p.D149D|SRI_uc003ujr.1_Silent_p.D174D|SRI_uc011khh.1_Silent_p.D174D	p.D189D	NM_003130	NP_003121	P30626	SORCN_HUMAN			7	619	-	Esophageal squamous(14;0.00202)		189					A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.567T>C	CCDS5612.1																																																																																				0.343	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		4	39	0	0	0	0.000248	0	4	39				
ZNF804B	219578	broad.mit.edu	37	7	88847491	88847491	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:88847491C>G	ENST00000333190.4	+	2	740	c.131C>G	c.(130-132)aCa>aGa	p.T44R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	44							metal ion binding (GO:0046872)	p.T44R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAAGTCCACAGCAAAGGCC	0.343										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(130-132)ACA>AGA		zinc finger protein 804B							75.0	74.0	75.0					7																	88847491		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88847491C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.131C>G	7.37:g.88847491C>G	ENSP00000329638:p.Thr44Arg	HNSCC(36;0.09)					p.T44R	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	669	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		44					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.131C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361957	0.41801	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.05	4.17	0.49024	.	0.120982	0.37053	N	0.002269	T	0.05044	0.0135	N	0.08118	0	0.37405	D	0.913001	P	0.45396	0.857	P	0.45971	0.499	T	0.47724	-0.9095	10	0.72032	D	0.01	-5.0556	10.065	0.42297	0.0:0.8468:0.0:0.1532	.	44	A4D1E1	Z804B_HUMAN	R	44	ENSP00000329638:T44R	ENSP00000329638:T44R	T	+	2	0	ZNF804B	88685427	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.789000	0.55454	1.362000	0.46000	-0.439000	0.05793	ACA		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		8	66	0	0	0	0.004482	0	8	66				
FBXL13	222235	broad.mit.edu	37	7	102608486	102608486	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:102608486T>A	ENST00000313221.4	-	7	1000	c.574A>T	c.(574-576)Aac>Tac	p.N192Y	FBXL13_ENST00000379308.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.N192Y|FBXL13_ENST00000379306.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Missense_Mutation_p.N192Y|FBXL13_ENST00000456695.1_Missense_Mutation_p.N192Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.N192Y	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	192	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.N192Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACAGTGAGTTTAGTTGTGTC	0.373																																							uc003vaq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)AAC>TAC		F-box and leucine-rich repeat protein 13 isoform							168.0	141.0	150.0					7																	102608486		2202	4300	6502	SO:0001583	missense	222235							g.chr7:102608486T>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.574A>T	7.37:g.102608486T>A	ENSP00000321927:p.Asn192Tyr					FBXL13_uc010liq.1_Missense_Mutation_p.N7Y|FBXL13_uc010lir.1_Missense_Mutation_p.N192Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.N192Y|FBXL13_uc003vav.2_RNA	p.N192Y	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			7	1001	-			192			F-box.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.574A>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	T	8.903	0.956893	0.18507	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.53423	2.29;2.29;2.29;2.29;0.62;0.62;2.29;2.29	5.06	-0.261	0.12963	F-box domain, cyclin-like (1);	0.782790	0.11440	N	0.563947	T	0.44871	0.1314	L	0.39898	1.24	0.09310	N	1	P;P;P;P	0.42123	0.654;0.771;0.606;0.523	B;P;P;B	0.50136	0.413;0.632;0.549;0.332	T	0.38178	-0.9673	10	0.66056	D	0.02	.	5.5379	0.17021	0.0:0.3298:0.1413:0.5289	.	192;192;192;192	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	Y	192;192;192;119;192;192;192;192;192	ENSP00000377367:N192Y;ENSP00000368610:N192Y;ENSP00000368608:N192Y;ENSP00000368607:N192Y;ENSP00000388608:N192Y;ENSP00000321927:N192Y;ENSP00000409716:N192Y;ENSP00000391550:N192Y	ENSP00000321927:N192Y	N	-	1	0	FBXL13	102395722	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.698000	0.25571	0.004000	0.14682	0.533000	0.62120	AAC		0.373	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		8	29	0	0	0	0.004482	0	8	29				
RELN	5649	broad.mit.edu	37	7	103205757	103205757	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:103205757C>T	ENST00000428762.1	-	34	5337	c.5178G>A	c.(5176-5178)aaG>aaA	p.K1726K	RELN_ENST00000424685.2_Silent_p.K1726K|RELN_ENST00000343529.5_Silent_p.K1726K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1726					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.K1726K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGTGATCCGCTTCCAATTCT	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5176-5178)AAG>AAA		reelin isoform a							124.0	112.0	116.0					7																	103205757		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205757C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5178G>A	7.37:g.103205757C>T						RELN_uc010liz.2_Silent_p.K1726K	p.K1726K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5338	-			1726					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5178G>A	CCDS47680.1																																																																																				0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	91	0	0	0	0.006214	0	9	91				
RELN	5649	broad.mit.edu	37	7	103338439	103338439	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:103338439A>T	ENST00000428762.1	-	10	1163	c.1004T>A	c.(1003-1005)gTa>gAa	p.V335E	RELN_ENST00000424685.2_Missense_Mutation_p.V335E|RELN_ENST00000343529.5_Missense_Mutation_p.V335E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	335					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V335E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTTCACCTACACGAAGATT	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1003-1005)GTA>GAA		reelin isoform a							235.0	208.0	217.0					7																	103338439		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338439A>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1004T>A	7.37:g.103338439A>T	ENSP00000392423:p.Val335Glu					RELN_uc010liz.2_Missense_Mutation_p.V335E	p.V335E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1164	-			335					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1004T>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	a	10.69	1.421579	0.25639	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	6.07	0.662	0.17880	.	0.254621	0.39544	N	0.001339	T	0.09774	0.0240	N	0.22421	0.69	0.33454	D	0.584048	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.11324	-1.0592	10	0.31617	T	0.26	.	1.3114	0.02098	0.2239:0.434:0.1591:0.1829	.	335;335	P78509-2;P78509	.;RELN_HUMAN	E	335	ENSP00000392423:V335E;ENSP00000345694:V335E;ENSP00000388446:V335E	ENSP00000345694:V335E	V	-	2	0	RELN	103125675	0.092000	0.21681	0.068000	0.19968	0.993000	0.82548	0.623000	0.24447	0.123000	0.18342	0.529000	0.55759	GTA		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	141	0	0	0	0.001368	0	12	141				
LAMB1	3912	broad.mit.edu	37	7	107572810	107572810	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:107572810G>T	ENST00000222399.6	-	28	4431	c.4201C>A	c.(4201-4203)Ccc>Acc	p.P1401T	LAMB1_ENST00000393561.1_Missense_Mutation_p.P1425T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1401	Domain alpha.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.P1401T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCCCCTGGGGGTGTTCCACAG	0.592																																							uc003vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(4201-4203)CCC>ACC		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	64.0	65.0					7																	107572810		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107572810G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4201C>A	7.37:g.107572810G>T	ENSP00000222399:p.Pro1401Thr					LAMB1_uc003vev.2_Missense_Mutation_p.P1425T|LAMB1_uc003veu.2_5'Flank	p.P1401T	NM_002291	NP_002282	P07942	LAMB1_HUMAN			28	4536	-			1401			Domain alpha.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4201C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800781	0.50315	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.31769	1.48;1.48	5.28	5.28	0.74379	.	.	.	.	.	T	0.28366	0.0701	L	0.47016	1.485	0.33817	D	0.628598	P;B	0.36789	0.57;0.348	B;B	0.36922	0.236;0.156	T	0.44817	-0.9303	9	0.59425	D	0.04	.	9.8304	0.40939	0.0744:0.1405:0.7851:0.0	.	1401;1425	P07942;G3XAI2	LAMB1_HUMAN;.	T	1425;1401	ENSP00000377191:P1425T;ENSP00000222399:P1401T	ENSP00000222399:P1401T	P	-	1	0	LAMB1	107360046	0.999000	0.42202	0.979000	0.43373	0.967000	0.64934	4.639000	0.61361	2.627000	0.88993	0.655000	0.94253	CCC		0.592	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	64	1	0	0.000274275	0.004482	0.000329596	8	64				
FOXP2	93986	broad.mit.edu	37	7	114304340	114304340	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:114304340G>C	ENST00000393494.2	+	16	2131	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	FOXP2_ENST00000393489.3_Missense_Mutation_p.E526Q|FOXP2_ENST00000408937.3_Missense_Mutation_p.E643Q|FOXP2_ENST00000393498.2_Missense_Mutation_p.E597Q|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.E618Q|FOXP2_ENST00000393491.3_Missense_Mutation_p.E433Q|FOXP2_ENST00000403559.4_Missense_Mutation_p.E635Q			O15409	FOXP2_HUMAN	forkhead box P2	618					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E643*(1)|p.E643Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCCTTGGCAGAGAGCAGTTT	0.388																																							uc003vhb.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1852-1854)GAG>CAG		forkhead box P2 isoform I							75.0	67.0	70.0					7																	114304340		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304340G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1852G>C	7.37:g.114304340G>C	ENSP00000377132:p.Glu618Gln					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.E643Q|FOXP2_uc003vha.2_Missense_Mutation_p.E526Q|FOXP2_uc011kmu.1_Missense_Mutation_p.E635Q|FOXP2_uc011kmv.1_Missense_Mutation_p.E617Q|FOXP2_uc010ljz.1_Missense_Mutation_p.E433Q	p.E618Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN			16	2226	+			618					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1852G>C	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096185	0.56075	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92048	-2.72;-2.72;-2.73;-2.72;-2.8;-2.96	5.68	5.68	0.88126	.	0.097542	0.64402	D	0.000001	D	0.95207	0.8446	M	0.61703	1.905	0.80722	D	1	P;P;D;P;P	0.62365	0.759;0.759;0.991;0.759;0.844	B;B;D;B;B	0.63381	0.188;0.188;0.914;0.188;0.347	D	0.95259	0.8367	10	0.87932	D	0	.	19.8002	0.96504	0.0:0.0:1.0:0.0	.	617;635;433;618;643	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	Q	618;643;635;618;595;526;433	ENSP00000377132:E618Q;ENSP00000386200:E643Q;ENSP00000385069:E635Q;ENSP00000265436:E618Q;ENSP00000377129:E526Q;ENSP00000377130:E433Q	ENSP00000265436:E618Q	E	+	1	0	FOXP2	114091576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.674000	0.91012	0.655000	0.94253	GAG		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	37	0	0	0	0.001168	0	3	37				
CFTR	1080	broad.mit.edu	37	7	117149094	117149094	+	Missense_Mutation	SNP	G	G	T	rs397508295|rs121909025		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:117149094G>T	ENST00000003084.6	+	3	303	c.171G>T	c.(169-171)tgG>tgT	p.W57C	CFTR_ENST00000454343.1_Missense_Mutation_p.W57C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	57			W -> G (in CF). {ECO:0000269|PubMed:7544319}.		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.W57C(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCAGAGAATGGGATAGAGAGC	0.333									Cystic Fibrosis																														uc003vjd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM994782	CFTR	M	rs121909025	c.(169-171)TGG>TGT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						112.0	121.0	118.0					7																	117149094		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117149094G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.171G>T	7.37:g.117149094G>T	ENSP00000003084:p.Trp57Cys					CFTR_uc011knq.1_5'UTR	p.W57C	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		3	303	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		57		W -> G (in CF).	Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.171G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106723	0.77096	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91894	-2.93;-2.93;-2.93	5.68	5.68	0.88126	.	0.051295	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98534	1.0629	10	0.87932	D	0	-8.4782	19.7786	0.96409	0.0:0.0:1.0:0.0	.	57	P13569	CFTR_HUMAN	C	57	ENSP00000003084:W57C;ENSP00000403677:W57C;ENSP00000389119:W57C	ENSP00000003084:W57C	W	+	3	0	CFTR	116936330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.681000	0.91329	0.591000	0.81541	TGG		0.333	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		11	144	1	0	0.000978159	0.000978	0.00114863	11	144				
CTTNBP2	83992	broad.mit.edu	37	7	117432096	117432097	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:117432096_117432097CC>AA	ENST00000160373.3	-	4	1244_1245	c.1153_1154GG>TT	c.(1153-1155)GGa>TTa	p.G385L	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	385	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.G385L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGTGCTTGGTCCATTTTCCTCA	0.55																																							uc003vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1153-1155)GGA>TTA		cortactin binding protein 2																																				SO:0001583	missense	83992							g.chr7:117432096_117432097CC>AA		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1153_1154delinsAA	7.37:g.117432096_117432097delinsAA	ENSP00000160373:p.Gly385Leu						p.G385L	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1245_1246	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		385			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	DNP	ENST00000160373.3	37	c.1153_1154GG>TT	CCDS5774.1																																																																																				0.550	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		11	126	0	0	0	0.004672	0	11	126				
PTPRZ1	5803	broad.mit.edu	37	7	121651876	121651876	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:121651876C>G	ENST00000393386.2	+	12	3187	c.2776C>G	c.(2776-2778)Cct>Gct	p.P926A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	926					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P926A(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGGCCTGAACCTTCTTATGC	0.433																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(2776-2778)CCT>GCT		protein tyrosine phosphatase, receptor-type,							167.0	139.0	149.0					7																	121651876		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651876C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2776C>G	7.37:g.121651876C>G	ENSP00000377047:p.Pro926Ala					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.P926A	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3171	+			926			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2776C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	0.133	-1.110639	0.01813	.	.	ENSG00000106278	ENST00000393386	T	0.40756	1.02	5.68	2.89	0.33648	.	0.821099	0.11133	N	0.596076	T	0.27313	0.0670	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05484	-1.0882	10	0.08599	T	0.76	.	8.5912	0.33688	0.1251:0.7421:0.0:0.1327	.	926	P23471	PTPRZ_HUMAN	A	926	ENSP00000377047:P926A	ENSP00000377047:P926A	P	+	1	0	PTPRZ1	121439112	0.947000	0.32204	0.784000	0.31847	0.966000	0.64601	0.296000	0.19083	0.319000	0.23209	0.650000	0.86243	CCT		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		17	129	0	0	0	0.006122	0	17	129				
CPA1	1357	broad.mit.edu	37	7	130027667	130027667	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:130027667C>G	ENST00000011292.3	+	10	1225	c.1075C>G	c.(1075-1077)Caa>Gaa	p.Q359E	CPA1_ENST00000484324.1_Missense_Mutation_p.Q271E	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	359					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q359E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCCCCAGATCAAGCCAGTGG	0.527																																							uc003vpx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)CAA>GAA		carboxypeptidase A1 precursor							290.0	306.0	301.0					7																	130027667		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027667C>G		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1075C>G	7.37:g.130027667C>G	ENSP00000011292:p.Gln359Glu						p.Q359E	NM_001868	NP_001859	P15085	CBPA1_HUMAN			10	1147	+	Melanoma(18;0.0435)		359					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.1075C>G	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181848	0.38511	.	.	ENSG00000091704	ENST00000011292;ENST00000484324	T;T	0.10382	2.88;2.88	5.73	3.85	0.44370	Peptidase M14, carboxypeptidase A (2);	0.149150	0.64402	D	0.000008	T	0.13927	0.0337	L	0.59912	1.85	0.58432	D	0.999998	B	0.31519	0.327	B	0.34991	0.193	T	0.03514	-1.1029	10	0.24483	T	0.36	.	14.2444	0.65978	0.3865:0.6135:0.0:0.0	.	359	P15085	CBPA1_HUMAN	E	359;271	ENSP00000011292:Q359E;ENSP00000419497:Q271E	ENSP00000011292:Q359E	Q	+	1	0	CPA1	129814903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.030000	0.41108	0.820000	0.34516	0.555000	0.69702	CAA		0.527	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		26	397	0	0	0	0.004656	0	26	397				
PLXNA4	91584	broad.mit.edu	37	7	132192544	132192544	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:132192544A>T	ENST00000359827.3	-	2	1871	c.909T>A	c.(907-909)agT>agA	p.S303R	PLXNA4_ENST00000378539.5_Missense_Mutation_p.S303R|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S303R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.S303R			Q9HCM2	PLXA4_HUMAN	plexin A4	303	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S303R(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTCCACCCCACTGCGCTCAC	0.587																																							uc003vra.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(907-909)AGT>AGA		plexin A4 isoform 1							59.0	44.0	49.0					7																	132192544		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192544A>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.909T>A	7.37:g.132192544A>T	ENSP00000352882:p.Ser303Arg					PLXNA4_uc003vrc.2_Missense_Mutation_p.S303R|PLXNA4_uc003vrb.2_Missense_Mutation_p.S303R	p.S303R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	1138	-			303			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.909T>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	0.153	-1.089500	0.01873	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.72	-11.3	0.00108	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.258788	0.23135	U	0.051523	T	0.01092	0.0036	N	0.00729	-1.24	0.09310	N	0.999997	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.15870	0.005;0.014;0.003	T	0.42103	-0.9471	10	0.12103	T	0.63	.	14.8462	0.70261	0.2864:0.0:0.6266:0.087	.	303;303;303	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	R	303	ENSP00000323194:S303R;ENSP00000352882:S303R;ENSP00000392772:S303R;ENSP00000367800:S303R	ENSP00000323194:S303R	S	-	3	2	PLXNA4	131843084	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.040000	0.03546	-2.313000	0.00648	-2.348000	0.00243	AGT		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	20	0	0	0	0.00308	0	8	20				
EXOC4	60412	broad.mit.edu	37	7	133682312	133682312	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:133682312G>C	ENST00000253861.4	+	15	2303	c.2274G>C	c.(2272-2274)caG>caC	p.Q758H	EXOC4_ENST00000541309.1_Missense_Mutation_p.Q46H|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q657H|EXOC4_ENST00000545148.1_Missense_Mutation_p.Q368H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	758					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.Q758H(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGATCATGCAGACTCTCAGTG	0.493																																							uc003vrk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2272-2274)CAG>CAC		SEC8 protein isoform a							151.0	118.0	129.0					7																	133682312		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682312G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2274G>C	7.37:g.133682312G>C	ENSP00000253861:p.Gln758His					EXOC4_uc011kpo.1_Missense_Mutation_p.Q657H|EXOC4_uc003vrl.2_Missense_Mutation_p.Q368H|EXOC4_uc011kpp.1_Missense_Mutation_p.Q290H|EXOC4_uc011kpq.1_Missense_Mutation_p.Q46H	p.Q758H	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			15	2309	+		Esophageal squamous(399;0.129)	758					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2274G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406014	0.25378	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.43	4.56	0.56223	.	0.117441	0.64402	D	0.000015	T	0.48314	0.1493	L	0.40543	1.245	0.46521	D	0.999089	B;B;B	0.24186	0.013;0.053;0.099	B;B;B	0.30179	0.014;0.112;0.017	T	0.45308	-0.9270	9	0.45353	T	0.12	.	8.8857	0.35402	0.229:0.0:0.771:0.0	.	290;368;758	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	H	758;377;657;368;46	.	ENSP00000253861:Q758H	Q	+	3	2	EXOC4	133332852	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.172000	0.50832	1.302000	0.44855	0.655000	0.94253	CAG		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		5	58	0	0	0	0.001168	0	5	58				
WEE2	494551	broad.mit.edu	37	7	141408876	141408876	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:141408876C>A	ENST00000397541.2	+	1	724	c.318C>A	c.(316-318)ccC>ccA	p.P106P	WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	106					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.P106P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCTGCTGCCCAGTGACAGCC	0.522																																							uc003vwn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|stomach(1)	2						c.(316-318)CCC>CCA		WEE1 homolog 2							88.0	89.0	88.0					7																	141408876		1950	4140	6090	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408876C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.318C>A	7.37:g.141408876C>A						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.P106P	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			1	724	+	Melanoma(164;0.0171)		106						Silent	SNP	ENST00000397541.2	37	c.318C>A	CCDS43660.1																																																																																				0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		16	104	1	0	3.45872e-05	0.004007	4.37949e-05	16	104				
PRSS1	5644	broad.mit.edu	37	7	142458475	142458475	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:142458475A>G	ENST00000311737.7	+	2	116	c.110A>G	c.(109-111)tAc>tGc	p.Y37C	PRSS1_ENST00000486171.1_Missense_Mutation_p.Y37C	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	37	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Y37C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCTGTCCCCTACCAGGTGTCC	0.537																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(109-111)TAC>TGC		protease, serine, 1 preproprotein							136.0	130.0	132.0					7																	142458475		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458475A>G	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.110A>G	7.37:g.142458475A>G	ENSP00000308720:p.Tyr37Cys					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	p.Y37C	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	127	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	37			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.110A>G	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057340	0.36277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94457	-3.43;-3.43	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	M	0.73598	2.24	0.47245	D	0.999361	D	0.89917	1.0	D	0.97110	1.0	D	0.96501	0.9371	10	0.87932	D	0	.	11.4883	0.50367	1.0:0.0:0.0:0.0	.	37	P07477	TRY1_HUMAN	C	37	ENSP00000417854:Y37C;ENSP00000308720:Y37C	ENSP00000308720:Y37C	Y	+	2	0	PRSS1	142138049	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	3.012000	0.49575	1.531000	0.49152	0.332000	0.21555	TAC		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			16	135	0	0	0	0.003163	0	16	135				
OR2A2	442361	broad.mit.edu	37	7	143807463	143807463	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:143807463C>G	ENST00000408979.2	+	1	857	c.788C>G	c.(787-789)tCt>tGt	p.S263C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S263C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCCCAGACTCTAATCAACGA	0.507																																							uc011ktz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(787-789)TCT>TGT		olfactory receptor, family 2, subfamily A,							171.0	167.0	169.0					7																	143807463		2046	4217	6263	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807463C>G		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.788C>G	7.37:g.143807463C>G	ENSP00000386209:p.Ser263Cys						p.S263C	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	788	+	Melanoma(164;0.0783)		263			Extracellular (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.788C>G	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632273	0.14322	.	.	ENSG00000221989	ENST00000408979	T	0.00277	8.34	3.47	0.266	0.15617	GPCR, rhodopsin-like superfamily (1);	0.536026	0.14005	U	0.347856	T	0.00666	0.0022	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.44345	-0.9334	10	0.87932	D	0	-6.7266	5.0802	0.14653	0.3608:0.5308:0.0:0.1083	.	263	Q6IF42	OR2A2_HUMAN	C	263	ENSP00000386209:S263C	ENSP00000386209:S263C	S	+	2	0	OR2A2	143438396	0.021000	0.18746	0.000000	0.03702	0.004000	0.04260	1.140000	0.31516	-0.070000	0.12908	0.511000	0.50034	TCT		0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			26	192	0	0	0	0.002096	0	26	192				
KMT2C	58508	broad.mit.edu	37	7	151945170	151945170	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:151945170G>C	ENST00000262189.6	-	14	2567	c.2349C>G	c.(2347-2349)tcC>tcG	p.S783S	KMT2C_ENST00000355193.2_Silent_p.S783S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	783					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)	p.S783S(2)									GTGTTGGGGAGGAAGACACAT	0.423																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2347-2349)TCC>TCG		myeloid/lymphoid or mixed-lineage leukemia 3							339.0	305.0	317.0					7																	151945170		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945170G>C	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.2349C>G	7.37:g.151945170G>C							p.S783S	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)	14	2568	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	783					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2349C>G	CCDS5931.1																																																																																				0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	496	0	0	0	0.008291	0	9	496				
MYOM2	9172	broad.mit.edu	37	8	2088653	2088653	+	Nonsense_Mutation	SNP	A	A	T	rs76960308	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:2088653A>T	ENST00000262113.4	+	33	3949	c.3808A>T	c.(3808-3810)Aag>Tag	p.K1270*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.K695*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1270					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.K1270*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAGATGCTAAGATCTCATC	0.473																																							uc003wpx.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3808-3810)AAG>TAG		myomesin 2							102.0	100.0	101.0					8																	2088653		2203	4300	6503	SO:0001587	stop_gained	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088653A>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3808A>T	8.37:g.2088653A>T	ENSP00000262113:p.Lys1270*					MYOM2_uc011kwi.1_Nonsense_Mutation_p.K695*	p.K1270*	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3946	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1270					Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	c.3808A>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	40	8.393368	0.98791	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	1.0:0.0:0.0:0.0	.	.	.	.	X	1270;695	.	ENSP00000262113:K1270X	K	+	1	0	MYOM2	2076060	1.000000	0.71417	0.945000	0.38365	0.424000	0.31475	5.857000	0.69525	1.896000	0.54893	0.533000	0.62120	AAG		0.473	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	54	0	0	0	0.00308	0	7	54				
RP1L1	94137	broad.mit.edu	37	8	10467736	10467736	+	Missense_Mutation	SNP	T	T	A	rs566413090		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:10467736T>A	ENST00000382483.3	-	4	4095	c.3872A>T	c.(3871-3873)cAg>cTg	p.Q1291L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1291					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)		p.Q1291L(1)		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)		TTCAGCTAACTGCTCCAGGTT	0.517																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3871-3873)CAG>CTG		retinitis pigmentosa 1-like 1							176.0	172.0	173.0					8																	10467736		2050	4202	6252	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467736T>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.3872A>T	8.37:g.10467736T>A	ENSP00000371923:p.Gln1291Leu						p.Q1291L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4101	-			1291					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3872A>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.673943	0.29693	.	.	ENSG00000183638	ENST00000382483	T	0.05199	3.48	4.08	2.89	0.33648	.	0.526316	0.14285	N	0.329241	T	0.09598	0.0236	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.55055	0.767	T	0.19289	-1.0310	10	0.59425	D	0.04	-1.5201	9.053	0.36387	0.0:0.0:0.1862:0.8138	.	1291	A6NKC6	.	L	1291	ENSP00000371923:Q1291L	ENSP00000371923:Q1291L	Q	-	2	0	RP1L1	10505146	0.001000	0.12720	0.024000	0.17045	0.013000	0.08279	-0.013000	0.12678	0.686000	0.31488	0.459000	0.35465	CAG		0.517	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			16	140	0	0	0	0.004007	0	16	140				
TEX15	56154	broad.mit.edu	37	8	30705192	30705192	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:30705192C>T	ENST00000256246.2	-	1	1416	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	448					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E448K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCCCTATCTTCAACATAAGCA	0.333																																							uc003xil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1342-1344)GAA>AAA		testis expressed 15							171.0	170.0	171.0					8																	30705192		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705192C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1342G>A	8.37:g.30705192C>T	ENSP00000256246:p.Glu448Lys						p.E448K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1342	-			448						Missense_Mutation	SNP	ENST00000256246.2	37	c.1342G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	6.487	0.457977	0.12342	.	.	ENSG00000133863	ENST00000256246	T	0.10382	2.88	5.61	1.71	0.24356	.	0.916693	0.09263	N	0.826176	T	0.05364	0.0142	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.40553	-0.9557	10	0.87932	D	0	.	7.8187	0.29276	0.0:0.5499:0.0:0.4501	.	448	Q9BXT5	TEX15_HUMAN	K	448	ENSP00000256246:E448K	ENSP00000256246:E448K	E	-	1	0	TEX15	30824734	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.556000	0.23438	0.096000	0.17463	-0.157000	0.13467	GAA		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			27	194	0	0	0	0.00632	0	27	194				
DDHD2	23259	broad.mit.edu	37	8	38110567	38110567	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:38110567C>G	ENST00000397166.2	+	15	2338	c.1813C>G	c.(1813-1815)Cca>Gca	p.P605A	DDHD2_ENST00000520272.2_Missense_Mutation_p.P605A|DDHD2_ENST00000517385.1_Missense_Mutation_p.P224A|DDHD2_ENST00000529845.1_Missense_Mutation_p.P56A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	605	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P605A(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TACCAGAGCTCCATACCCTGC	0.473																																							uc003xlb.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1813-1815)CCA>GCA		DDHD domain containing 2 isoform 1							76.0	70.0	72.0					8																	38110567		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110567C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1813C>G	8.37:g.38110567C>G	ENSP00000380352:p.Pro605Ala					DDHD2_uc003xlc.2_Missense_Mutation_p.P605A|DDHD2_uc003xld.2_Missense_Mutation_p.P224A	p.P605A	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		15	2190	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	605			DDHD.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1813C>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665375	0.47677	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845	T;T	0.28069	1.63;1.63	5.9	4.98	0.66077	DDHD (2);	0.105539	0.64402	D	0.000003	T	0.17916	0.0430	N	0.17631	0.505	0.54753	D	0.999987	B	0.15141	0.012	B	0.18871	0.023	T	0.05801	-1.0863	10	0.02654	T	1	-4.9371	13.2329	0.59953	0.0:0.9198:0.0:0.0802	.	605	O94830	DDHD2_HUMAN	A	605;605;224;56	ENSP00000380352:P605A;ENSP00000429932:P605A	ENSP00000380352:P605A	P	+	1	0	DDHD2	38229724	0.786000	0.28738	0.421000	0.26609	0.961000	0.63080	3.426000	0.52778	1.398000	0.46701	-0.367000	0.07326	CCA		0.473	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		4	41	0	0	0	0.000248	0	4	41				
CYP7A1	1581	broad.mit.edu	37	8	59409192	59409192	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:59409192C>A	ENST00000301645.3	-	3	1016	c.879G>T	c.(877-879)gcG>gcT	p.A293A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	293					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.A293A(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCCAGAAAGTCGCTGGAATGG	0.388									Neonatal Giant Cell Hepatitis																														uc003xtm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(877-879)GCG>GCT		cytochrome P450, family 7, subfamily A,							89.0	87.0	88.0					8																	59409192		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409192C>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.879G>T	8.37:g.59409192C>A							p.A293A	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	942	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	293					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.879G>T	CCDS6171.1																																																																																				0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		8	82	1	0	1.06961e-07	0.00308	1.49482e-07	8	82				
PREX2	80243	broad.mit.edu	37	8	68992817	68992817	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:68992817A>G	ENST00000288368.4	+	16	2059	c.1782A>G	c.(1780-1782)ttA>ttG	p.L594L	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	594	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L594L(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTAAGTCATTATTGGTAAGTT	0.328																																							uc003xxv.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(1780-1782)TTA>TTG		DEP domain containing 2 isoform a							44.0	43.0	43.0					8																	68992817		2203	4299	6502	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992817A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1782A>G	8.37:g.68992817A>G						PREX2_uc003xxu.1_Silent_p.L594L|PREX2_uc011lez.1_Silent_p.L529L	p.L594L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			16	1809	+			594			PDZ 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.1782A>G	CCDS6201.1																																																																																				0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	38	0	0	0	0.000248	0	4	38				
KCNS2	3788	broad.mit.edu	37	8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88					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)	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542																																					Pancreas(138;844 2489 9202 24627)	Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)GGC>GAC		potassium voltage-gated channel,							135.0	109.0	118.0					8																	99440470		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440470G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.263G>A	8.37:g.99440470G>A	ENSP00000287042:p.Gly88Asp						p.G88D	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	613	+	Breast(36;2.4e-06)		88			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.263G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376631	0.82682	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.55930	0.49;0.49	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.055844	0.64402	D	0.000001	T	0.80864	0.4705	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85918	0.1444	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	88	Q9ULS6	KCNS2_HUMAN	D	88	ENSP00000287042:G88D;ENSP00000430712:G88D	ENSP00000287042:G88D	G	+	2	0	KCNS2	99509646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GGC		0.542	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		4	105	0	0	0	0.000248	0	4	105				
VPS13B	157680	broad.mit.edu	37	8	100479783	100479783	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:100479783G>A	ENST00000358544.2	+	24	3698	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E	VPS13B_ENST00000395996.1_Missense_Mutation_p.G1196E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1196E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1196					protein transport (GO:0015031)			p.G1196E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGCTACGGGACCTGATACA	0.428																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3586-3588)GGA>GAA		vacuolar protein sorting 13B isoform 5							208.0	179.0	189.0					8																	100479783		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100479783G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3587G>A	8.37:g.100479783G>A	ENSP00000351346:p.Gly1196Glu					VPS13B_uc003yiw.2_Missense_Mutation_p.G1196E|VPS13B_uc003yiu.1_Missense_Mutation_p.G1196E|VPS13B_uc003yix.1_Missense_Mutation_p.G666E	p.G1196E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		24	3698	+	Breast(36;3.73e-07)		1196					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3587G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936006	0.73442	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46451	0.87;0.87;0.87	5.62	3.79	0.43588	.	0.109676	0.64402	D	0.000015	T	0.44329	0.1288	L	0.53249	1.67	0.46279	D	0.998962	P;P;P;B	0.38440	0.515;0.631;0.624;0.17	B;B;B;B	0.42692	0.359;0.395;0.261;0.085	T	0.42258	-0.9462	10	0.72032	D	0.01	.	12.6554	0.56784	0.0:0.1268:0.741:0.1322	.	1195;1196;1196;1196	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	1196	ENSP00000349685:G1196E;ENSP00000351346:G1196E;ENSP00000379318:G1196E	ENSP00000349685:G1196E	G	+	2	0	VPS13B	100548959	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	4.231000	0.58639	0.685000	0.31468	0.561000	0.74099	GGA		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		17	152	0	0	0	0.00499	0	17	152				
ZFPM2	23414	broad.mit.edu	37	8	106811100	106811100	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:106811100C>A	ENST00000407775.2	+	7	1138	c.888C>A	c.(886-888)agC>agA	p.S296R	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S164R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S27R|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S164R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	296					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)	p.S296R(1)		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)			AGATTTCCAGCCTGTGCCCCT	0.493																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(886-888)AGC>AGA		zinc finger protein, multitype 2							125.0	129.0	128.0					8																	106811100		2056	4220	6276	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.chr8:106811100C>A	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.888C>A	8.37:g.106811100C>A	ENSP00000384179:p.Ser296Arg					ZFPM2_uc011lhs.1_Missense_Mutation_p.S27R|uc003yme.1_5'Flank	p.S296R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	911	+			296			C2H2-type 1.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.888C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055284	0.19907	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17854	2.25;2.7;2.7;3.84	6.06	0.622	0.17648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.04634	0.0126	N	0.02379	-0.575	0.54753	D	0.999986	B	0.29188	0.236	B	0.20767	0.031	T	0.43180	-0.9407	10	0.02654	T	1	.	11.2885	0.49237	0.0:0.5339:0.0:0.4661	.	296	Q8WW38	FOG2_HUMAN	R	296;164;164;27	ENSP00000384179:S296R;ENSP00000430757:S164R;ENSP00000428720:S164R;ENSP00000367733:S27R	ENSP00000367733:S27R	S	+	3	2	ZFPM2	106880276	0.968000	0.33430	0.986000	0.45419	0.998000	0.95712	0.224000	0.17738	0.162000	0.19483	0.650000	0.86243	AGC		0.493	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	120	1	0	5.4927e-09	0.004482	8.01255e-09	9	120				
CSMD3	114788	broad.mit.edu	37	8	113348905	113348905	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:113348905G>T	ENST00000297405.5	-	44	7239	c.6995C>A	c.(6994-6996)cCa>cAa	p.P2332Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2228Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2292Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2262Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2332	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2292Q(1)|p.P2332Q(1)		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						ATCATATATTGGTTCTGTTTG	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(6994-6996)CCA>CAA		CUB and Sushi multiple domains 3 isoform 1							107.0	109.0	108.0					8																	113348905		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113348905G>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.6995C>A	8.37:g.113348905G>T	ENSP00000297405:p.Pro2332Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1534Q|CSMD3_uc003ynt.2_Missense_Mutation_p.P2292Q|CSMD3_uc011lhx.1_Missense_Mutation_p.P2228Q|CSMD3_uc003ynw.1_Missense_Mutation_p.P43Q	p.P2332Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			44	7154	-			2332			Extracellular (Potential).|CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6995C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210075	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.34337	0.0894	L	0.39020	1.185	0.58432	D	0.999992	D;P;D	0.71674	0.975;0.537;0.998	P;B;D	0.74348	0.848;0.349;0.983	T	0.00503	-1.1701	10	0.42905	T	0.14	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2228;2332;2292	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2292;2332;1602;2228;2262	ENSP00000345799:P2292Q;ENSP00000297405:P2332Q;ENSP00000341558:P1602Q;ENSP00000412263:P2228Q;ENSP00000343124:P2262Q	ENSP00000297405:P2332Q	P	-	2	0	CSMD3	113418081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.742000	0.85008	2.937000	0.99478	0.650000	0.86243	CCA		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	114	1	0	5.50884e-06	0.001368	7.16782e-06	10	114				
RHPN1	114822	broad.mit.edu	37	8	144464814	144464814	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:144464814G>T	ENST00000289013.6	+	15	2107	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	694					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.W669L(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCCAGGGTGGCCGTGAGGG	0.682																																							uc003yyb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2005-2007)TGG>TTG		rhophilin 1							22.0	28.0	26.0					8																	144464814		2101	4206	6307	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144464814G>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.2006G>T	8.37:g.144464814G>T	ENSP00000289013:p.Trp669Leu						p.W669L	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		15	2139	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		694					Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.2006G>T	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750924	0.49257	.	.	ENSG00000158106	ENST00000289013	T	0.52754	0.65	3.09	1.01	0.19927	.	1.914250	0.04986	U	0.466577	T	0.24314	0.0589	N	0.08118	0	0.09310	N	0.999999	P	0.36535	0.557	B	0.27500	0.08	T	0.21280	-1.0250	10	0.51188	T	0.08	0.0347	5.797	0.18392	0.1276:0.2003:0.6721:0.0	.	669	Q8TCX5-2	.	L	669	ENSP00000289013:W669L	ENSP00000289013:W669L	W	+	2	0	RHPN1	144535957	0.000000	0.05858	0.038000	0.18304	0.023000	0.10783	0.059000	0.14322	0.633000	0.30452	0.561000	0.74099	TGG		0.682	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			3	21	1	0	6.4e-05	0.004672	7.91091e-05	3	21				
JAK2	3717	broad.mit.edu	37	9	5029787	5029787	+	Silent	SNP	C	C	T	rs139093384		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:5029787C>T	ENST00000381652.3	+	4	725	c.231C>T	c.(229-231)atC>atT	p.I77I	JAK2_ENST00000539801.1_Silent_p.I77I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	77	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.I77I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCTAGGTATCACACCTGTGT	0.343		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(229-231)ATC>ATT		Janus kinase 2							145.0	141.0	142.0					9																	5029787		2203	4298	6501	SO:0001819	synonymous_variant	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5029787C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.231C>T	9.37:g.5029787C>T						JAK2_uc003ziw.2_Silent_p.I77I	p.I77I	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	3	344	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	77			Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.231C>T	CCDS6457.1																																																																																				0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			5	114	0	0	0	0.000602	0	5	114				
PDCD1LG2	80380	broad.mit.edu	37	9	5534886	5534886	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:5534886C>A	ENST00000397747.3	+	3	445	c.197C>A	c.(196-198)aCa>aAa	p.T66K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T66K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	66	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T66K(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAAAATGATACATCCCCACAC	0.517																																							uc003zjg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)ACA>AAA		programmed cell death 1 ligand 2 precursor							108.0	93.0	98.0					9																	5534886		2203	4300	6503	SO:0001583	missense	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534886C>A	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.197C>A	9.37:g.5534886C>A	ENSP00000380855:p.Thr66Lys					C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.T66K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.T66K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T66K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T66K	p.T66K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	470	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	66			Ig-like V-type.|Extracellular (Potential).		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.197C>A	CCDS6465.1	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022099	0.19433	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.13089	2.62;2.62	5.73	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.727139	0.13085	N	0.414991	T	0.10766	0.0263	L	0.45698	1.435	0.09310	N	1	D;D;D;B;D	0.58620	0.976;0.976;0.983;0.208;0.976	B;B;P;B;B	0.45195	0.341;0.341;0.473;0.014;0.341	T	0.04165	-1.0972	10	0.05436	T	0.98	-5.5245	5.7414	0.18096	0.4172:0.4883:0.0:0.0945	.	55;66;66;66;66	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	K	66	ENSP00000380853:T66K;ENSP00000380855:T66K	ENSP00000380853:T66K	T	+	2	0	PDCD1LG2	5524886	0.000000	0.05858	0.007000	0.13788	0.300000	0.27592	0.145000	0.16157	0.732000	0.32470	0.561000	0.74099	ACA		0.517	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		3	56	1	0	2.56e-06	0.000248	3.40932e-06	3	56				
ZNF658	26149	broad.mit.edu	37	9	40774879	40774879	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:40774879T>A	ENST00000602553.1	-	5	690	c.396A>T	c.(394-396)tcA>tcT	p.S132S	ZNF658_ENST00000377626.3_Silent_p.S132S|ZNF658_ENST00000441795.1_Silent_p.S130S			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	132					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)	p.S132S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATATTTTTTCTGAAAGCTCTG	0.318																																							uc004abs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(394-396)TCA>TCT		zinc finger protein 658							23.0	25.0	24.0					9																	40774879		2176	4273	6449	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774879T>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.396A>T	9.37:g.40774879T>A						ZNF658_uc010mmm.1_Silent_p.S132S|ZNF658_uc010mmn.1_Silent_p.S132S	p.S132S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	548	-			132					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.396A>T	CCDS35023.1																																																																																				0.318	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		3	56	0	0	0	0.000602	0	3	56				
SPATA31A6	389730	broad.mit.edu	37	9	43625471	43625471	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:43625471C>T	ENST00000332857.6	-	4	3244	c.3216G>A	c.(3214-3216)atG>atA	p.M1072I	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1072					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.M1072I(1)									TTCTGGCTGCCATGAGGTCAT	0.542																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3214-3216)ATG>ATA		hypothetical protein LOC389730							7.0	7.0	7.0					9																	43625471		596	1496	2092	SO:0001583	missense	389730					integral to membrane		g.chr9:43625471C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3216G>A	9.37:g.43625471C>T	ENSP00000329825:p.Met1072Ile						p.M1072I	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3245	-			1072						Missense_Mutation	SNP	ENST00000332857.6	37	c.3216G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	5.562	0.288520	0.10513	.	.	ENSG00000185775	ENST00000332857	T	0.03663	3.85	2.44	0.53	0.17102	.	1.392950	0.04673	N	0.411091	T	0.05044	0.0135	L	0.55481	1.735	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.46748	-0.9169	10	0.25751	T	0.34	.	4.6114	0.12404	0.0:0.6713:0.0:0.3287	.	1072	Q5VVP1	F75A6_HUMAN	I	1072	ENSP00000329825:M1072I	ENSP00000329825:M1072I	M	-	3	0	FAM75A6	43565467	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.350000	0.07721	0.148000	0.19059	-0.559000	0.04183	ATG		0.542	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		25	294	0	0	0	0.004656	0	25	294				
ZCCHC6	79670	broad.mit.edu	37	9	88967669	88967669	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:88967669C>T	ENST00000375963.3	-	2	618	c.446G>A	c.(445-447)aGa>aAa	p.R149K	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R149K|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R149K	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	149					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R149K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTACAGTTCTGCAGCCTCT	0.408																																							uc004aoq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(445-447)AGA>AAA		zinc finger, CCHC domain containing 6							194.0	192.0	193.0					9																	88967669		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967669C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.446G>A	9.37:g.88967669C>T	ENSP00000365130:p.Arg149Lys					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aou.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aov.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aow.2_Missense_Mutation_p.R149K|ZCCHC6_uc010mqf.1_Missense_Mutation_p.R149K	p.R149K	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			2	661	-			149					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.446G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547560	0.86022	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.60920	0.15;0.15;0.25	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.64148	0.2572	L	0.29908	0.895	0.33231	D	0.555961	D;D;D;D;P	0.67145	0.996;0.996;0.996;0.995;0.893	D;D;D;P;B	0.76071	0.987;0.987;0.987;0.741;0.294	T	0.72144	-0.4379	10	0.66056	D	0.02	-0.593	12.4872	0.55879	0.0:0.9244:0.0:0.0756	.	149;149;149;149;149	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	K	149	ENSP00000365127:R149K;ENSP00000365128:R149K;ENSP00000365130:R149K	ENSP00000365127:R149K	R	-	2	0	ZCCHC6	88157489	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.350000	0.52224	2.779000	0.95612	0.591000	0.81541	AGA		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		15	169	0	0	0	0.00245	0	15	169				
ZCCHC6	79670	broad.mit.edu	37	9	88967678	88967678	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:88967678C>T	ENST00000375963.3	-	2	609	c.437G>A	c.(436-438)aGa>aAa	p.R146K	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R146K|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R146K	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	146					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R146K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTGCAGCCTCTTGTGTCTTG	0.408																																							uc004aoq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)AGA>AAA		zinc finger, CCHC domain containing 6							201.0	200.0	200.0					9																	88967678		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967678C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.437G>A	9.37:g.88967678C>T	ENSP00000365130:p.Arg146Lys					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aou.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aov.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aow.2_Missense_Mutation_p.R146K|ZCCHC6_uc010mqf.1_Missense_Mutation_p.R146K	p.R146K	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			2	652	-			146					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.437G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659050	0.67586	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.43688	0.95;0.94;0.95	5.31	5.31	0.75309	.	0.174710	0.41097	D	0.000944	T	0.49064	0.1535	N	0.24115	0.695	0.29996	N	0.816458	P;P;P;D;P	0.53151	0.792;0.628;0.792;0.958;0.956	B;B;B;P;D	0.65010	0.318;0.318;0.318;0.763;0.931	T	0.43798	-0.9369	10	0.36615	T	0.2	-5.5436	16.5298	0.84355	0.0:1.0:0.0:0.0	.	146;146;146;146;146	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	K	146	ENSP00000365127:R146K;ENSP00000365128:R146K;ENSP00000365130:R146K	ENSP00000365127:R146K	R	-	2	0	ZCCHC6	88157498	0.989000	0.36119	0.975000	0.42487	0.994000	0.84299	2.275000	0.43399	2.779000	0.95612	0.591000	0.81541	AGA		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		18	180	0	0	0	0.00499	0	18	180				
IARS	3376	broad.mit.edu	37	9	94985761	94985761	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:94985761G>A	ENST00000375643.3	-	32	3686	c.3420C>T	c.(3418-3420)aaC>aaT	p.N1140N	IARS_ENST00000443024.2_Silent_p.N1140N|IARS_ENST00000447699.2_Silent_p.N1030N|IARS_ENST00000375629.3_3'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1140					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.N1140N(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTCAGTTTGGTTTTGTATTT	0.338																																							uc004art.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3418-3420)AAC>AAT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						106.0	102.0	104.0					9																	94985761		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:94985761G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3420C>T	9.37:g.94985761G>A						IARS_uc004ars.1_Intron|IARS_uc004aru.3_Silent_p.N1140N|IARS_uc010mqr.2_Silent_p.N1030N|IARS_uc010mqt.2_Silent_p.N363N	p.N1140N	NM_013417	NP_038203	P41252	SYIC_HUMAN			32	3677	-			1140					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.3420C>T	CCDS6694.1																																																																																				0.338	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		5	65	0	0	0	0.000602	0	5	65				
CORO2A	7464	broad.mit.edu	37	9	100893276	100893276	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:100893276G>A	ENST00000343933.5	-	7	1088	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CORO2A_ENST00000375077.4_Silent_p.F277F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	277					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.F277F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCGCGTCATAGAAGGGAAACA	0.647																																							uc004ayl.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(829-831)TTC>TTT		coronin, actin binding protein, 2A							76.0	54.0	62.0					9																	100893276		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100893276G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.831C>T	9.37:g.100893276G>A						CORO2A_uc004aym.2_Silent_p.F277F	p.F277F	NM_003389	NP_003380	Q92828	COR2A_HUMAN			7	1097	-		Acute lymphoblastic leukemia(62;0.0559)	277			WD 5.		Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.831C>T	CCDS6735.1																																																																																				0.647	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		3	23	0	0	0	0.000248	0	3	23				
PTPN3	5774	broad.mit.edu	37	9	112166750	112166750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:112166750C>A	ENST00000374541.2	-	19	2035	c.1931G>T	c.(1930-1932)gGg>gTg	p.G644V	PTPN3_ENST00000394827.3_Missense_Mutation_p.G112V|PTPN3_ENST00000412145.1_Missense_Mutation_p.G513V|PTPN3_ENST00000446349.1_Missense_Mutation_p.G468V|PTPN3_ENST00000262539.3_Missense_Mutation_p.G490V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	644					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.G644V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGCACCGTCCCGCTTTCGAG	0.577																																							uc004bed.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1930-1932)GGG>GTG		protein tyrosine phosphatase, non-receptor type							98.0	88.0	91.0					9																	112166750		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166750C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1931G>T	9.37:g.112166750C>A	ENSP00000363667:p.Gly644Val					PTPN3_uc004beb.2_Missense_Mutation_p.G513V|PTPN3_uc004bec.2_Missense_Mutation_p.G468V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.G599V|PTPN3_uc011lwh.1_Missense_Mutation_p.G490V|PTPN3_uc011lwd.1_Missense_Mutation_p.G112V|PTPN3_uc011lwe.1_Missense_Mutation_p.G357V|PTPN3_uc011lwf.1_Missense_Mutation_p.G312V	p.G644V	NM_002829	NP_002820	P26045	PTN3_HUMAN			19	2043	-			644					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1931G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515085	0.96402	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.976	T	0.41645	-0.9497	10	0.87932	D	0	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	490;599;644	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	V	644;513;468;644;112;490	ENSP00000416654:G513V;ENSP00000395384:G468V;ENSP00000363667:G644V;ENSP00000378304:G112V;ENSP00000262539:G490V	ENSP00000262539:G490V	G	-	2	0	PTPN3	111206571	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.632000	0.83247	2.815000	0.96918	0.561000	0.74099	GGG		0.577	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			14	59	1	0	0.000151284	0.001855	0.000184541	14	59				
AKAP2	11217	broad.mit.edu	37	9	112900009	112900009	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:112900009G>A	ENST00000259318.7	+	2	1699	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D729N|AKAP2_ENST00000434623.2_Missense_Mutation_p.D587N|AKAP2_ENST00000510514.5_Missense_Mutation_p.D729N|AKAP2_ENST00000555236.1_Missense_Mutation_p.D729N|AKAP2_ENST00000374525.1_Missense_Mutation_p.D587N|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.D729N	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	498								p.D587N(1)|p.D729N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TTTCAGCATGGACAACATCAG	0.507																																							uc004bei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2881-2883)GAC>AAC		A kinase (PRKA) anchor protein 2 isoform 2							107.0	102.0	104.0					9																	112900009		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900009G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1492G>A	9.37:g.112900009G>A	ENSP00000259318:p.Asp498Asn					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D729N|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D729N|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D539N|AKAP2_uc011lwi.1_Missense_Mutation_p.D587N|AKAP2_uc004bem.2_Missense_Mutation_p.D587N|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D547N|AKAP2_uc011lwj.1_Missense_Mutation_p.D498N|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D498N	p.D961N	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	3073	+			498					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2881G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733793	0.89482	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.61627	1.44;1.46;1.44;1.46;0.7;0.12;0.09;0.76	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	L	0.32530	0.975	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.999;0.998;0.996;1.0;1.0;0.999	T	0.67692	-0.5605	10	0.49607	T	0.09	-41.2456	19.3963	0.94608	0.0:0.0:1.0:0.0	.	498;587;581;587;588;729;729;547	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	N	729;729;729;729;587;587;547;498	ENSP00000363654:D729N;ENSP00000305861:D729N;ENSP00000451476:D729N;ENSP00000421522:D729N;ENSP00000404782:D587N;ENSP00000363649:D587N;ENSP00000419268:D547N;ENSP00000259318:D498N	ENSP00000259318:D498N	D	+	1	0	PALM2-AKAP2;AKAP2	111939830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.201000	0.95017	2.814000	0.96858	0.655000	0.94253	GAC		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		20	89	0	0	0	0.001523	0	20	89				
SVEP1	79987	broad.mit.edu	37	9	113194251	113194251	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:113194251C>A	ENST00000401783.2	-	32	5633	c.5297G>T	c.(5296-5298)gGa>gTa	p.G1766V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1743V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1766	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G1769V(1)		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						TATGTAGGATCCATCTACGTT	0.378																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(5296-5298)GGA>GTA		polydom							152.0	147.0	149.0					9																	113194251		1976	4176	6152	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194251C>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.5297G>T	9.37:g.113194251C>A	ENSP00000384917:p.Gly1766Val					SVEP1_uc010mty.2_5'Flank	p.G1766V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			32	5634	-			1766			EGF-like 7; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5297G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451042	0.63290	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.99557	-6.16;-6.16	5.62	5.62	0.85841	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96618	0.9457	10	0.56958	D	0.05	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	1766	Q4LDE5	SVEP1_HUMAN	V	1766;1743	ENSP00000384917:G1766V;ENSP00000363593:G1743V	ENSP00000363593:G1743V	G	-	2	0	SVEP1	112234072	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	7.269000	0.78482	2.625000	0.88918	0.655000	0.94253	GGA		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	95	1	0	2.98393e-07	0.00278	4.08936e-07	23	95				
ZNF483	158399	broad.mit.edu	37	9	114289741	114289741	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:114289741G>T	ENST00000309235.5	+	2	224	c.66G>T	c.(64-66)tcG>tcT	p.S22S	ZNF483_ENST00000374374.3_Silent_p.S22S|ZNF483_ENST00000355824.3_Silent_p.S22S|ZNF483_ENST00000358151.4_Silent_p.S22S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	22					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)	p.S22S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTCTGGCCTCGACTGAACAAA	0.478																																							uc004bff.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(64-66)TCG>TCT		zinc finger protein 483 isoform a							96.0	96.0	96.0					9																	114289741		2203	4300	6503	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114289741G>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.66G>T	9.37:g.114289741G>T						ZNF483_uc011lwq.1_Silent_p.S22S|ZNF483_uc004bfg.2_Silent_p.S22S|ZNF483_uc010mud.1_Silent_p.S22S	p.S22S	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			2	290	+			22					Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.66G>T	CCDS35106.1																																																																																				0.478	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		7	87	1	0	2.7689e-08	0.001984	3.92781e-08	7	87				
RNF183	138065	broad.mit.edu	37	9	116060272	116060272	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:116060272G>T	ENST00000478815.1	-	1	1773	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	RNF183_ENST00000416588.2_Missense_Mutation_p.L65M|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000441031.3_Missense_Mutation_p.L65M|RNF183_ENST00000297894.5_Missense_Mutation_p.L65M			Q96D59	RN183_HUMAN	ring finger protein 183	65						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L65M(1)		lung(1)|prostate(1)|skin(1)	3						CCTGAGGCCAGCACTGTGGGC	0.657																																							uc004bgz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)CTG>ATG		ring finger protein 183							29.0	35.0	33.0					9																	116060272		2156	4244	6400	SO:0001583	missense	138065					integral to membrane	zinc ion binding	g.chr9:116060272G>T		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.193C>A	9.37:g.116060272G>T	ENSP00000419454:p.Leu65Met					RNF183_uc004bha.2_Missense_Mutation_p.L65M	p.L65M	NM_145051	NP_659488	Q96D59	RN183_HUMAN			2	311	-			65						Missense_Mutation	SNP	ENST00000478815.1	37	c.193C>A	CCDS43866.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419696	0.62622	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.17	4.25	0.50352	Zinc finger, RING/FYVE/PHD-type (1);	0.179049	0.37219	N	0.002199	D	0.92857	0.7728	N	0.19112	0.55	0.42659	D	0.993472	D	0.89917	1.0	D	0.83275	0.996	D	0.92801	0.6256	10	0.62326	D	0.03	-28.304	11.9503	0.52950	0.0866:0.0:0.9134:0.0	.	65	Q96D59	RN183_HUMAN	M	65	ENSP00000417176:L65M;ENSP00000420740:L65M;ENSP00000419454:L65M;ENSP00000417943:L65M	ENSP00000417943:L65M	L	-	1	2	RNF183	115100093	0.996000	0.38824	1.000000	0.80357	0.483000	0.33249	2.340000	0.43974	2.692000	0.91855	0.655000	0.94253	CTG		0.657	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		11	50	1	0	1.08611e-07	0.000978	1.51041e-07	11	50				
ASTN2	23245	broad.mit.edu	37	9	119858343	119858343	+	Missense_Mutation	SNP	C	C	G	rs369593338		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:119858343C>G	ENST00000313400.4	-	5	1356	c.1256G>C	c.(1255-1257)cGc>cCc	p.R419P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R368P|ASTN2_ENST00000373996.3_Missense_Mutation_p.R419P|AL354981.1_ENST00000583553.1_RNA			O75129	ASTN2_HUMAN	astrotactin 2	419					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R368P(1)		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						GCGGCGACTGCGGTACTGCTC	0.507																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1255-1257)CGC>CCC		astrotactin 2 isoform c							125.0	99.0	108.0					9																	119858343		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119858343C>G	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.1256G>C	9.37:g.119858343C>G	ENSP00000314038:p.Arg419Pro					ASTN2_uc004bjr.1_Missense_Mutation_p.R419P|ASTN2_uc004bjt.1_Missense_Mutation_p.R368P	p.R419P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			5	1357	-			419			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1256G>C		.	.	.	.	.	.	.	.	.	.	C	15.62	2.887268	0.52014	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.20463	2.21;2.2;2.07;2.3	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.33760	0.0874	L	0.29908	0.895	0.45930	D	0.998768	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.998;0.969;0.999	T	0.02365	-1.1170	9	.	.	.	-22.2897	15.5262	0.75910	0.0:1.0:0.0:0.0	.	368;419;419	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	419;419;146;368	ENSP00000314038:R419P;ENSP00000363108:R419P;ENSP00000363098:R146P;ENSP00000354504:R368P	.	R	-	2	0	ASTN2	118898164	1.000000	0.71417	0.988000	0.46212	0.893000	0.52053	4.370000	0.59517	2.488000	0.83962	0.491000	0.48974	CGC		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	60	0	0	0	0.001168	0	5	60				
BRINP1	1620	broad.mit.edu	37	9	122075514	122075514	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:122075514C>A	ENST00000265922.3	-	2	581	c.120G>T	c.(118-120)tgG>tgT	p.W40C	BRINP1_ENST00000373964.2_Missense_Mutation_p.W40C	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	40					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.W40C(1)									CTGAAATGAGCCAATCAAATT	0.488																																							uc004bkc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(118-120)TGG>TGT		deleted in bladder cancer 1 precursor							121.0	118.0	119.0					9																	122075514		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075514C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.120G>T	9.37:g.122075514C>A	ENSP00000265922:p.Trp40Cys					DBC1_uc004bkd.2_Missense_Mutation_p.W40C	p.W40C	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	576	-			40					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.120G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082255	0.76528	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.63417	1.66;-0.04	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.977	T	0.74309	-0.3707	10	0.87932	D	0	-9.9823	18.859	0.92265	0.0:1.0:0.0:0.0	.	40;40	O60477-2;O60477	.;DBC1_HUMAN	C	40	ENSP00000265922:W40C;ENSP00000363075:W40C	ENSP00000265922:W40C	W	-	3	0	DBC1	121115335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.473000	0.83533	0.561000	0.74099	TGG		0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		16	63	1	0	9.95505e-16	0.002299	1.63795e-15	16	63				
GOLGA2	2801	broad.mit.edu	37	9	131019541	131019541	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131019541G>A	ENST00000421699.2	-	26	2826	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.L926L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	938					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.L926L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CACTGCCGGCGAGGCTCACCT	0.637																																							uc011maw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2812-2814)CTC>CTT		Golgi autoantigen, golgin subfamily a, 2																																				SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019541G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2814C>T	9.37:g.131019541G>A						GOLGA2_uc010mxw.2_Silent_p.L261L|GOLGA2_uc004buh.2_Intron	p.L938L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			26	2827	-			938					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2814C>T	CCDS6896.2																																																																																				0.637	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		6	47	0	0	0	0.001168	0	6	47				
SWI5	375757	broad.mit.edu	37	9	131050954	131050954	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131050954A>G	ENST00000320188.5	+	5	667	c.667A>G	c.(667-669)Aaa>Gaa	p.K223E	SWI5_ENST00000495313.1_Missense_Mutation_p.K127E|SWI5_ENST00000418976.1_Missense_Mutation_p.K118E|SWI5_ENST00000608796.1_Missense_Mutation_p.K158E	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	223					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.K223E(1)									TGTCACCACCAAAGAGTTGTA	0.557																																							uc004bup.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)AAA>GAA		hypothetical protein LOC375757							154.0	149.0	151.0					9																	131050954		2095	4215	6310	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131050954A>G	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.667A>G	9.37:g.131050954A>G	ENSP00000316609:p.Lys223Glu						p.K223E	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			5	667	+			223					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.667A>G	CCDS43883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.422616|4.422616	0.83559|0.83559	.|.	.|.	ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000418976	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.147932|.	0.44688|.	D|.	0.000422|.	T|T	0.72479|0.72479	0.3465|0.3465	M|M	0.73319|0.73319	2.225|2.225	0.39117|0.39117	D|D	0.961585|0.961585	D|.	0.71674|.	0.998|.	D|.	0.71870|.	0.975|.	T|T	0.74940|0.74940	-0.3493|-0.3493	9|5	0.59425|.	D|.	0.04|.	.|.	13.3283|13.3283	0.60473|0.60473	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	223|.	Q1ZZU3|.	SWI5_HUMAN|.	E|R	223|150	.|.	ENSP00000316609:K223E|.	K|Q	+|+	1|2	0|0	SWI5|SWI5	130090775|130090775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	4.956000|4.956000	0.63645|0.63645	2.165000|2.165000	0.68154|0.68154	0.402000|0.402000	0.26972|0.26972	AAA|CAA		0.557	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		16	172	0	0	0	0.008871	0	16	172				
ODF2	4957	broad.mit.edu	37	9	131246279	131246279	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131246279G>T	ENST00000434106.3	+	11	1413	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	ODF2_ENST00000372814.3_Missense_Mutation_p.Q394H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q331H|ODF2_ENST00000604420.1_Missense_Mutation_p.Q350H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q350H|ODF2_ENST00000393527.3_Missense_Mutation_p.Q326H|ODF2_ENST00000546203.1_Missense_Mutation_p.Q331H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q345H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q326H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q269H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q345H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	350					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.Q326H(1)|p.Q394H(1)|p.Q350H(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGCATTTGCAGGCACAGCTTC	0.527																																							uc011mbd.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1048-1050)CAG>CAT		outer dense fiber of sperm tails 2 isoform 1							112.0	103.0	106.0					9																	131246279		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131246279G>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1050G>T	9.37:g.131246279G>T	ENSP00000403453:p.Gln350His					ODF2_uc011maz.1_Missense_Mutation_p.Q350H|ODF2_uc011mba.1_Missense_Mutation_p.Q135H|ODF2_uc010myb.2_Missense_Mutation_p.Q326H|ODF2_uc011mbb.1_Missense_Mutation_p.Q284H|ODF2_uc011mbc.1_Missense_Mutation_p.Q269H|ODF2_uc004bva.2_Missense_Mutation_p.Q303H|ODF2_uc004bvb.2_Missense_Mutation_p.Q326H|ODF2_uc011mbe.1_Missense_Mutation_p.Q345H|ODF2_uc004bvc.2_Missense_Mutation_p.Q326H|ODF2_uc010myc.2_Missense_Mutation_p.Q293H|ODF2_uc011mbf.1_Missense_Mutation_p.Q331H|ODF2_uc004bvd.3_Missense_Mutation_p.Q350H|ODF2_uc004bve.2_Missense_Mutation_p.Q331H|uc004bvg.2_5'Flank	p.Q350H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			11	1361	+			350			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1050G>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624853	0.46840	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;1.15;0.95;0.95;0.95	5.8	2.89	0.33648	.	0.102039	0.64402	D	0.000002	T	0.39937	0.1097	L	0.49126	1.545	0.80722	D	1	B;P;B;P;P;P;P;B;D;P	0.56287	0.202;0.9;0.082;0.672;0.618;0.618;0.69;0.202;0.975;0.672	B;P;B;B;B;B;P;B;P;B	0.51266	0.097;0.532;0.058;0.302;0.275;0.275;0.548;0.097;0.664;0.302	T	0.34551	-0.9824	10	0.66056	D	0.02	-27.3885	2.2215	0.03973	0.2212:0.1313:0.5121:0.1355	.	331;345;269;284;350;394;345;331;350;326	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	H	350;394;345;350;326;269;331;331	ENSP00000377166:Q350H;ENSP00000361901:Q394H;ENSP00000342581:Q345H;ENSP00000361882:Q350H;ENSP00000307781:Q326H;ENSP00000396687:Q269H;ENSP00000437579:Q331H;ENSP00000361877:Q331H	ENSP00000307781:Q326H	Q	+	3	2	ODF2	130286100	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.597000	0.24059	0.810000	0.34279	-0.150000	0.13652	CAG		0.527	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			8	80	1	0	2.74318e-10	0.006214	4.11841e-10	8	80				
CCBL1	883	broad.mit.edu	37	9	131597812	131597812	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131597812C>G	ENST00000302586.3	-	10	1152	c.990G>C	c.(988-990)aaG>aaC	p.K330N	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.K280N|CCBL1_ENST00000436267.2_Missense_Mutation_p.K424N	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	330					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.K330N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GGATGATGGGCTTCAGGCCCA	0.602																																							uc004bwh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)AAG>AAC		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						90.0	90.0	90.0					9																	131597812		2115	4247	6362	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597812C>G	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.990G>C	9.37:g.131597812C>G	ENSP00000302227:p.Lys330Asn					CCBL1_uc004bwf.2_Missense_Mutation_p.K364N|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.K330N|CCBL1_uc004bwj.2_Missense_Mutation_p.K280N|CCBL1_uc011mbl.1_Missense_Mutation_p.K424N|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.K287N	p.K330N	NM_004059	NP_004050	Q16773	KAT1_HUMAN			10	1175	-			330					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.990G>C	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444385	0.25987	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90620	-2.7;-2.7;-2.7	5.36	2.36	0.29203	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.379532	0.30820	N	0.008806	D	0.89061	0.6608	L	0.48174	1.505	0.45046	D	0.99806	P;P;P;P	0.45044	0.849;0.629;0.604;0.629	P;B;B;B	0.53102	0.718;0.434;0.436;0.434	D	0.84171	0.0434	10	0.42905	T	0.14	-5.7253	4.9104	0.13820	0.1477:0.5848:0.0:0.2676	.	424;330;280;330	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	N	330;280;424	ENSP00000302227:K330N;ENSP00000317342:K280N;ENSP00000399415:K424N	ENSP00000302227:K330N	K	-	3	2	CCBL1	130637633	0.156000	0.22821	0.072000	0.20136	0.819000	0.46315	0.498000	0.22530	0.185000	0.20105	0.436000	0.28706	AAG		0.602	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			4	108	0	0	0	0.000248	0	4	108				
NUP188	23511	broad.mit.edu	37	9	131735483	131735483	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131735483T>C	ENST00000372577.2	+	12	1179	c.1158T>C	c.(1156-1158)tcT>tcC	p.S386S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	386					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S386S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GACTGCTCTCTTTCGTTCTGA	0.502																																							uc004bws.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1156-1158)TCT>TCC		nucleoporin 188kDa							170.0	129.0	143.0					9																	131735483		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131735483T>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1158T>C	9.37:g.131735483T>C							p.S386S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			12	1180	+			386					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.1158T>C	CCDS35156.1																																																																																				0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	63	0	0	0	0.000602	0	4	63				
NUP214	8021	broad.mit.edu	37	9	134073026	134073026	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:134073026A>T	ENST00000359428.5	+	29	4289	c.4145A>T	c.(4144-4146)aAg>aTg	p.K1382M	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.K1372M|NUP214_ENST00000483497.2_Missense_Mutation_p.K208M|NUP214_ENST00000451030.1_Missense_Mutation_p.K1383M			P35658	NU214_HUMAN	nucleoporin 214kDa	1382	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.K1382M(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGTTAGGGAAGCACACGGAG	0.562			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4144-4146)AAG>ATG		nucleoporin 214kDa							97.0	97.0	97.0					9																	134073026		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073026A>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4145A>T	9.37:g.134073026A>T	ENSP00000352400:p.Lys1382Met					NUP214_uc004cah.2_Missense_Mutation_p.K1372M|NUP214_uc004cai.2_Missense_Mutation_p.K812M|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.K208M|NUP214_uc011mcf.1_Missense_Mutation_p.K159M|NUP214_uc010mzh.1_Translation_Start_Site|NUP214_uc010mzi.1_Translation_Start_Site	p.K1382M	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4256	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1382			Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4145A>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120865	0.56613	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.65732	1.23;1.23;1.25;0.46;-0.17	5.67	5.67	0.87782	.	0.000000	0.46442	D	0.000281	T	0.62708	0.2450	N	0.08118	0	0.34517	D	0.707709	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.991;0.994;0.971;0.987;0.987	T	0.76124	-0.3074	10	0.72032	D	0.01	-18.6412	14.7393	0.69440	1.0:0.0:0.0:0.0	.	208;811;976;1372;1382	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	M	1382;1372;1383;1361;976;811;208;159;159	ENSP00000352400:K1382M;ENSP00000396576:K1372M;ENSP00000405014:K1383M;ENSP00000436793:K208M;ENSP00000435364:K159M	ENSP00000352400:K1382M	K	+	2	0	NUP214	133062847	1.000000	0.71417	0.986000	0.45419	0.108000	0.19459	6.525000	0.73795	2.169000	0.68431	0.459000	0.35465	AAG		0.562	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	72	0	0	0	0.00499	0	15	72				
TTF1	7270	broad.mit.edu	37	9	135266077	135266077	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:135266077G>A	ENST00000334270.2	-	7	2168	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	710	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S710L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGAACAATTGATAGGCAACT	0.403																																							uc004cbl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2128-2130)TCA>TTA		transcription termination factor, RNA polymerase							197.0	191.0	193.0					9																	135266077		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266077G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2129C>T	9.37:g.135266077G>A	ENSP00000333920:p.Ser710Leu					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.S195L	p.S710L	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2181	-		Myeloproliferative disorder(178;0.204)	710			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2129C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306349	0.60305	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.76	4.85	0.62838	SANT domain, DNA binding (1);MYB-like (1);	0.595567	0.14948	N	0.289075	T	0.16642	0.0400	L	0.27053	0.805	0.24058	N	0.996026	D	0.63880	0.993	P	0.57548	0.823	T	0.09552	-1.0669	10	0.48119	T	0.1	.	12.0688	0.53605	0.0:0.0:0.8281:0.1719	.	710	Q15361	TTF1_HUMAN	L	710	ENSP00000333920:S710L	ENSP00000245588:S710L	S	-	2	0	TTF1	134255898	0.892000	0.30473	0.338000	0.25549	0.554000	0.35429	1.977000	0.40589	1.388000	0.46506	0.655000	0.94253	TCA		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		8	244	0	0	0	0.004482	0	8	244				
CEL	1056	broad.mit.edu	37	9	135942538	135942538	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:135942538A>T	ENST00000372080.4	+	7	866	c.850A>T	c.(850-852)Act>Tct	p.T284S	CEL_ENST00000351304.7_Missense_Mutation_p.T281S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	281				RALTL -> AAVTV (in Ref. 5; AAB35488). {ECO:0000305}.	cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.T284S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTGAAGGTTACTGATCCCCG	0.647																																							uc010naa.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(850-852)ACT>TCT		carboxyl ester lipase precursor							40.0	44.0	43.0					9																	135942538		2100	4209	6309	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135942538A>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.850A>T	9.37:g.135942538A>T	ENSP00000361151:p.Thr284Ser						p.T284S	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	7	866	+			281					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.850A>T	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625792	0.46840	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.67523	-0.27;-0.27	5.18	4.03	0.46877	Carboxylesterase, type B (1);	0.156589	0.56097	D	0.000028	T	0.55832	0.1945	L	0.38953	1.18	0.24859	N	0.992351	P	0.44309	0.832	B	0.42593	0.392	T	0.49762	-0.8905	10	0.46703	T	0.11	.	8.5882	0.33670	0.5753:0.0:0.0:0.4247	.	281	P19835	CEL_HUMAN	S	284;281;284	ENSP00000361151:T284S;ENSP00000342217:T281S	ENSP00000304021:T284S	T	+	1	0	CEL	134932359	0.964000	0.33143	0.023000	0.16930	0.664000	0.39144	2.699000	0.47077	0.799000	0.34018	0.448000	0.29417	ACT		0.647	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	33	0	0	0	0.004482	0	8	33				
COL5A1	1289	broad.mit.edu	37	9	137716553	137716554	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:137716553_137716554GG>TT	ENST00000371817.3	+	62	5220_5221	c.4806_4807GG>TT	c.(4804-4809)gtGGac>gtTTac	p.D1603Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1603	Nonhelical 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)	p.D1603Y(1)		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)		AGAACTACGTGGACTACGCGGA	0.624																																							uc004cfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4804-4809)GTGGAC>GTTTAC		alpha 1 type V collagen preproprotein																																				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.chr9:137716553_137716554GG>TT	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	Exception_encountered	9.37:g.137716553_137716554delinsTT	ENSP00000360882:p.Asp1603Tyr					uc004cff.2_Intron	p.D1603Y	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)	62	5188_5189	+		Myeloproliferative disorder(178;0.0341)	1603			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	DNP	ENST00000371817.3	37	c.4806_4807GG>TT	CCDS6982.1																																																																																				0.624	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	44	0	0	0	0.004672	0	6	44				
SEC16A	9919	broad.mit.edu	37	9	139360558	139360558	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:139360558C>A	ENST00000371706.3	-	6	3658	c.3625G>T	c.(3625-3627)Gcc>Tcc	p.A1209S	SEC16A_ENST00000313050.7_Missense_Mutation_p.A1387S|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1209S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1209S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1209	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.A1387S(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TAGGAACCGGCAGCCACATTG	0.522																																							uc004chx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(4159-4161)GCC>TCC		SEC16 homolog A							40.0	49.0	46.0					9																	139360558		1997	4176	6173	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360558C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3625G>T	9.37:g.139360558C>A	ENSP00000360771:p.Ala1209Ser					SEC16A_uc004chv.3_Missense_Mutation_p.A777S|SEC16A_uc004chw.2_Missense_Mutation_p.A1387S|SEC16A_uc010nbn.2_Missense_Mutation_p.A1387S	p.A1387S	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	8	4468	-		Myeloproliferative disorder(178;0.0511)	1209			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4159G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.074|3.074	-0.190461|-0.190461	0.06299|0.06299	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T|.	0.29142|.	1.97;1.58;1.96;1.97;1.97|.	5.52|5.52	-1.66|-1.66	0.08265|0.08265	.|.	0.779117|.	0.12594|.	N|.	0.455284|.	T|T	0.21718|0.21718	0.0523|0.0523	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B|.	0.26845|.	0.051;0.161;0.063;0.1|.	B;B;B;B|.	0.30782|.	0.018;0.12;0.044;0.031|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.08381|.	T|.	0.77|.	-1.698|-1.698	6.4815|6.4815	0.22065|0.22065	0.1133:0.5582:0.0:0.3285|0.1133:0.5582:0.0:0.3285	.|.	1387;1209;1209;777|.	F1T0I1;O15027-5;O15027-4;A4QN19|.	.;.;.;.|.	S|F	1387;109;1209;1209;1209;777;311|83	ENSP00000325827:A1387S;ENSP00000403525:A109S;ENSP00000360771:A1209S;ENSP00000290037:A1209S;ENSP00000387583:A1209S|.	ENSP00000290037:A1209S|.	A|C	-|-	1|2	0|0	SEC16A|SEC16A	138480379|138480379	0.016000|0.016000	0.18221|0.18221	0.000000|0.000000	0.03702|0.03702	0.095000|0.095000	0.18619|0.18619	0.565000|0.565000	0.23578|0.23578	-0.530000|-0.530000	0.06349|0.06349	-0.136000|-0.136000	0.14681|0.14681	GCC|TGC		0.522	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		13	68	1	0	2.31682e-05	0.003163	2.94679e-05	13	68				
MXRA5	25878	broad.mit.edu	37	X	3240552	3240552	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:3240552C>A	ENST00000217939.6	-	5	3328	c.3174G>T	c.(3172-3174)aaG>aaT	p.K1058N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1058						extracellular vesicular exosome (GO:0070062)		p.K1058N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTCATACCCTTTTTAATCA	0.463																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3172-3174)AAG>AAT		adlican precursor							154.0	133.0	140.0					X																	3240552		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240552C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3174G>T	X.37:g.3240552C>A	ENSP00000217939:p.Lys1058Asn						p.K1058N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3331	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1058					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3174G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	1.600	-0.526848	0.04141	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63744	-0.06	3.33	0.2	0.15181	.	0.605953	0.13547	U	0.379778	T	0.40522	0.1120	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.34824	0.19	T	0.15321	-1.0441	10	0.33940	T	0.23	.	9.9579	0.41678	0.0:0.6315:0.0:0.3685	.	1058	Q9NR99	MXRA5_HUMAN	N	1058	ENSP00000217939:K1058N	ENSP00000217939:K1058N	K	-	3	2	MXRA5	3250552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.039000	0.12124	-0.749000	0.04747	-1.245000	0.01525	AAG		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	110	1	0	1.12685e-05	0.004482	1.45284e-05	9	110				
HCCS	3052	broad.mit.edu	37	X	11136729	11136729	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:11136729C>T	ENST00000321143.4	+	5	712	c.510C>T	c.(508-510)gcC>gcT	p.A170A	Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Silent_p.A170A|HCCS_ENST00000380762.4_Silent_p.A170A|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	170					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)	p.A170A(1)		kidney(1)|large_intestine(3)|lung(3)	7						AGTGGGAAGCCCTTCATGCTG	0.348																																					Ovarian(86;1338 1347 1462 10340 37882)	Ovarian(86;1338 1347 1462 10340 37882)	uc004cuk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)GCC>GCT		holocytochrome c synthase							133.0	122.0	126.0					X																	11136729		2203	4300	6503	SO:0001819	synonymous_variant	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11136729C>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.510C>T	X.37:g.11136729C>T						HCCS_uc004cuj.2_Silent_p.A170A|HCCS_uc004cul.1_Silent_p.A170A	p.A170A	NM_005333	NP_005324	P53701	CCHL_HUMAN			5	776	+			170					B3KUS1|Q502X8	Silent	SNP	ENST00000321143.4	37	c.510C>T	CCDS14139.1																																																																																				0.348	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			10	59	0	0	0	0.008291	0	10	59				
BEND2	139105	broad.mit.edu	37	X	18234682	18234682	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:18234682C>A	ENST00000380033.4	-	2	329	c.197G>T	c.(196-198)gGc>gTc	p.G66V	BEND2_ENST00000380030.3_Missense_Mutation_p.G66V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	66								p.G66V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATCATTGCCGCCTGGAAAATT	0.413																																							uc004cyj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(196-198)GGC>GTC		BEN domain containing 2							258.0	206.0	223.0					X																	18234682		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18234682C>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.197G>T	X.37:g.18234682C>A	ENSP00000369372:p.Gly66Val					BEND2_uc010nfb.2_Missense_Mutation_p.G66V	p.G66V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			2	351	-			66					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.197G>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448570	0.26074	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.46451	0.98;0.87	3.0	-2.37	0.06643	.	1.482540	0.04754	N	0.425000	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.25759	0.063;0.063	T	0.09640	-1.0665	10	0.72032	D	0.01	0.0243	0.2423	0.00194	0.3411:0.2561:0.1663:0.2365	.	66;66	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	V	66	ENSP00000369372:G66V;ENSP00000369369:G66V	ENSP00000369369:G66V	G	-	2	0	BEND2	18144603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.752000	0.01819	-0.827000	0.04278	-0.312000	0.09012	GGC		0.413	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		8	72	1	0	5.18039e-06	0.00308	6.7716e-06	8	72				
HYPM	25763	broad.mit.edu	37	X	37850387	37850387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:37850387G>A	ENST00000341016.3	+	1	318	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		99								p.E99K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CCACAGCGCTGAGAGTGATGT	0.527																																							uc004ddt.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(295-297)GAG>AAG		Huntingtin interacting protein M							97.0	102.0	100.0					X																	37850387		2124	4208	6332	SO:0001583	missense	25763						DNA binding	g.chrX:37850387G>A																												ENST00000341016.3:c.295G>A	X.37:g.37850387G>A	ENSP00000339511:p.Glu99Lys						p.E99K	NM_012274	NP_036406	O75409	HYPM_HUMAN			1	318	+			99					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.295G>A	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896612	0.33535	.	.	ENSG00000187516	ENST00000341016	T	0.41400	1.0	3.56	-3.42	0.04825	Histone-fold (1);	.	.	.	.	T	0.21550	0.0519	L	0.36672	1.1	0.09310	N	1	P	0.44195	0.828	B	0.37304	0.246	T	0.15464	-1.0436	9	0.20519	T	0.43	.	1.3972	0.02263	0.1693:0.3853:0.1847:0.2607	.	99	O75409	HYPM_HUMAN	K	99	ENSP00000339511:E99K	ENSP00000339511:E99K	E	+	1	0	CXorf27	37735331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-0.904000	0.03876	-1.203000	0.01651	GAG		0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			6	29	0	0	0	0.001168	0	6	29				
RGN	9104	broad.mit.edu	37	X	46949284	46949284	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:46949284T>G	ENST00000352078.4	+	4	801	c.456T>G	c.(454-456)atT>atG	p.I152M	RGN_ENST00000336169.3_Missense_Mutation_p.I152M|RGN_ENST00000397180.1_Missense_Mutation_p.I152M|RNU6-1189P_ENST00000383958.1_RNA|RGN_ENST00000457380.1_Intron	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	152					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)	p.I152M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						AGGTGGACATTTCCAATGGTT	0.502																																							uc004dgz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)ATT>ATG		regucalcin							135.0	106.0	116.0					X																	46949284		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46949284T>G	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.456T>G	X.37:g.46949284T>G	ENSP00000253303:p.Ile152Met					RGN_uc004dha.1_Missense_Mutation_p.I152M|RGN_uc010nho.1_Missense_Mutation_p.I99M|RGN_uc010nhp.1_Intron	p.I152M	NM_152869	NP_690608	Q15493	RGN_HUMAN			5	1425	+			152					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.456T>G	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543061	0.65198	.	.	ENSG00000130988	ENST00000397180;ENST00000352078;ENST00000336169	T;T;T	0.31247	1.5;1.5;1.5	5.64	3.89	0.44902	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.103412	0.64402	D	0.000005	T	0.58323	0.2114	M	0.91972	3.26	0.80722	D	1	D	0.52996	0.957	D	0.64877	0.93	T	0.59332	-0.7474	10	0.87932	D	0	-23.0749	8.5444	0.33413	0.0:0.6131:0.0:0.3869	.	152	Q15493	RGN_HUMAN	M	152	ENSP00000380365:I152M;ENSP00000253303:I152M;ENSP00000338400:I152M	ENSP00000338400:I152M	I	+	3	3	RGN	46834228	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.141000	0.42168	0.203000	0.20529	-0.180000	0.13094	ATT		0.502	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		11	71	0	0	0	0.008291	0	11	71				
PCDH11X	27328	broad.mit.edu	37	X	91873602	91873602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:91873602C>A	ENST00000373094.1	+	7	4552	c.3707C>A	c.(3706-3708)cCa>cAa	p.P1236Q	PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1199Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1228Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1218Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1199Q|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1226Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1236					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)	p.P1236Q(1)		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						CACAGCCCACCATCAGCACAG	0.587																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3706-3708)CCA>CAA		protocadherin 11 X-linked isoform c							157.0	135.0	143.0					X																	91873602		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873602C>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.3707C>A	X.37:g.91873602C>A	ENSP00000362186:p.Pro1236Gln					PCDH11X_uc004efl.1_Missense_Mutation_p.P1226Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1199Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1228Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1218Q	p.P1236Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4552	+			1236			Cytoplasmic (Potential).		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.3707C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285929	0.40394	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.60424	0.24;0.24;0.2;0.22;0.23;0.19	3.67	1.77	0.24775	.	.	.	.	.	T	0.43765	0.1262	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.45176	0.852;0.852;0.852;0.852;0.769	P;P;P;P;B	0.45232	0.474;0.474;0.474;0.474;0.282	T	0.22243	-1.0222	9	0.45353	T	0.12	.	5.918	0.19065	0.0:0.6887:0.192:0.1192	.	1199;1218;1228;1226;1236	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Q	1236;1226;1199;1218;1228;1236;1199	ENSP00000362186:P1236Q;ENSP00000362189:P1226Q;ENSP00000362180:P1199Q;ENSP00000355105:P1218Q;ENSP00000384758:P1228Q;ENSP00000298274:P1199Q	ENSP00000298274:P1199Q	P	+	2	0	PCDH11X	91760258	0.000000	0.05858	0.004000	0.12327	0.863000	0.49368	-0.225000	0.09151	0.184000	0.20083	0.466000	0.42574	CCA		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		22	129	1	0	7.41877e-09	0.001882	1.07392e-08	22	129				
PCDH19	57526	broad.mit.edu	37	X	99663320	99663320	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:99663320C>G	ENST00000373034.4	-	1	1951	c.276G>C	c.(274-276)ctG>ctC	p.L92L	PCDH19_ENST00000420881.2_Silent_p.L92L|PCDH19_ENST00000255531.7_Silent_p.L92L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	92	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.L92L(1)		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						TCTGGCGGCACAGCAGATCAC	0.552																																							uc010nmz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(274-276)CTG>CTC		protocadherin 19 isoform b							88.0	82.0	84.0					X																	99663320		2114	4231	6345	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663320C>G	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.276G>C	X.37:g.99663320C>G						PCDH19_uc004efw.3_Silent_p.L92L|PCDH19_uc004efx.3_Silent_p.L92L	p.L92L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	1952	-			92			Cadherin 1.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.276G>C	CCDS55462.1																																																																																				0.552	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		17	51	0	0	0	0.004007	0	17	51				
NXF5	55998	broad.mit.edu	37	X	101096645	101096645	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:101096645C>A	ENST00000361708.2	-	5	600		c.e5+1		NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000537026.1_Splice_Site			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						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)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGCACACACCTTTTGGTTC	0.493																																							uc011mrk.1		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e5+1		nuclear RNA export factor 5							148.0	121.0	130.0					X																	101096645		2203	4300	6503	SO:0001630	splice_region_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096645C>A	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.240+1G>T	X.37:g.101096645C>A						NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	p.K80_splice	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			5	600	-								A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Splice_Site	SNP	ENST00000361708.2	37	c.240_splice		.	.	.	.	.	.	.	.	.	.	c	10.45	1.354665	0.24512	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	.	.	.	2.18	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3337	0.26596	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF5	100983301	1.000000	0.71417	0.207000	0.23584	0.112000	0.19704	4.629000	0.61290	1.421000	0.47157	0.401000	0.26515	.		0.493	NXF5-201	KNOWN	basic	protein_coding	protein_coding			Intron	25	116	1	0	2.98393e-07	0.00278	4.08936e-07	25	116				
NXF3	56000	broad.mit.edu	37	X	102339665	102339665	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:102339665G>C	ENST00000395065.3	-	2	276	c.175C>G	c.(175-177)Cac>Gac	p.H59D	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	59					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.H59D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAGTCCATGTGGGCACCATGC	0.453																																							uc004eju.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(175-177)CAC>GAC		nuclear RNA export factor 3							199.0	163.0	175.0					X																	102339665		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339665G>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.175C>G	X.37:g.102339665G>C	ENSP00000378504:p.His59Asp					NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.H59D|NXF3_uc011mrx.1_Intron	p.H59D	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			2	246	-			59					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.175C>G	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.026975	0.19512	.	.	ENSG00000147206	ENST00000395065	T	0.42131	0.98	3.37	0.624	0.17659	.	1.015280	0.07865	N	0.966995	T	0.38241	0.1033	L	0.34521	1.04	0.09310	N	1	P;D	0.54772	0.932;0.968	B;P	0.51453	0.321;0.67	T	0.23583	-1.0184	10	0.33940	T	0.23	1.3469	5.2461	0.15498	0.4201:0.0:0.5799:0.0	.	59;59	B4DYI1;Q9H4D5	.;NXF3_HUMAN	D	59	ENSP00000378504:H59D	ENSP00000378504:H59D	H	-	1	0	NXF3	102226321	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.011000	0.14865	0.544000	0.68410	CAC		0.453	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		23	133	0	0	0	0.002299	0	23	133				
NRK	203447	broad.mit.edu	37	X	105168969	105168969	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:105168969A>C	ENST00000243300.9	+	19	3561	c.3258A>C	c.(3256-3258)acA>acC	p.T1086T	NRK_ENST00000428173.2_Silent_p.T1087T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1086					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.T1087T(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTCAGAGACAGATGGTCCAG	0.468										HNSCC(51;0.14)																													uc004emd.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3256-3258)ACA>ACC		Nik related kinase							110.0	103.0	105.0					X																	105168969		1964	4128	6092	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105168969A>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3258A>C	X.37:g.105168969A>C		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.T754T	p.T1086T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			19	3561	+			1086					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3258A>C																																																																																					0.468	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		17	85	0	0	0	0.00499	0	17	85				
SERPINA7	6906	broad.mit.edu	37	X	105280635	105280635	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:105280635G>T	ENST00000327674.4	-	1	750	c.415C>A	c.(415-417)Cat>Aat	p.H139N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.H139N|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	139					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTTTCAGATGCTTGCCAATG	0.448																																							uc004eme.1		NA																	0					0						c.(415-417)CAT>AAT		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						169.0	163.0	165.0					X																	105280635		2203	4299	6502	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280635G>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.415C>A	X.37:g.105280635G>T	ENSP00000329374:p.His139Asn					SERPINA7_uc010npd.2_Missense_Mutation_p.H139N|SERPINA7_uc010npe.1_Missense_Mutation_p.H139N	p.H139N	NM_000354	NP_000345	P05543	THBG_HUMAN			1	431	-			139					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.415C>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	2.069	-0.413409	0.04799	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.86432	-2.12;-2.12	4.7	1.99	0.26369	Serpin domain (3);	0.367921	0.26016	N	0.026856	T	0.66703	0.2816	N	0.03983	-0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55982	-0.8054	10	0.41790	T	0.15	.	3.7866	0.08703	0.2708:0.0:0.5572:0.172	.	139	P05543	THBG_HUMAN	N	139	ENSP00000329374:H139N;ENSP00000361644:H139N	ENSP00000329374:H139N	H	-	1	0	SERPINA7	105167291	0.000000	0.05858	0.003000	0.11579	0.200000	0.23975	0.797000	0.26999	0.177000	0.19895	0.594000	0.82650	CAT		0.448	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		15	209	1	0	3.41278e-10	0.00499	5.08325e-10	15	209				
GUCY2F	2986	broad.mit.edu	37	X	108628439	108628439	+	Missense_Mutation	SNP	G	G	T	rs55735218		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:108628439G>T	ENST00000218006.2	-	16	3320	c.3029C>A	c.(3028-3030)gCt>gAt	p.A1010D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1010	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.		A -> V (in dbSNP:rs55735218). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.A1010D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATCCGAGAAGCTGTGTTCAC	0.493																																							uc004eod.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3028-3030)GCT>GAT		guanylate cyclase 2F precursor							136.0	98.0	111.0					X																	108628439		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108628439G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3029C>A	X.37:g.108628439G>T	ENSP00000218006:p.Ala1010Asp					GUCY2F_uc011msq.1_RNA	p.A1010D	NM_001522	NP_001513	P51841	GUC2F_HUMAN			16	3305	-			1010			Guanylate cyclase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3029C>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993285	0.74703	.	.	ENSG00000101890	ENST00000218006	D	0.95205	-3.64	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.110157	0.64402	D	0.000010	D	0.98432	0.9478	H	0.99357	4.53	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98732	1.0713	10	0.87932	D	0	.	13.4909	0.61395	0.0:0.0:1.0:0.0	.	1010	P51841	GUC2F_HUMAN	D	1010	ENSP00000218006:A1010D	ENSP00000218006:A1010D	A	-	2	0	GUCY2F	108515095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.574000	0.98184	2.350000	0.79820	0.600000	0.82982	GCT		0.493	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		18	72	1	0	7.45023e-12	0.001523	1.1681e-11	18	72				
CT47B1	643311	broad.mit.edu	37	X	120008751	120008751	+	Splice_Site	SNP	C	C	G	rs538389922		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:120008751C>G	ENST00000371311.3	-	1	1028	c.774G>C	c.(772-774)gaG>gaC	p.E258D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	258										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCCCTTACCCTCGGGGGCCA	0.687													N||||N|||	3|3	0.000794702|0.000794702	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		9922|9922	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.0031|0.0031						uc011muc.1		NA																	0					0						c.(772-774)GAG>GAC		cancer/testis antigen family 147, member B1							29.0	27.0	27.0					X																	120008751		692	1590	2282	SO:0001630	splice_region_variant	643311							g.chrX:120008751C>G		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.775+1G>C	X.37:g.120008751C>G							p.E258D	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	1029	-			258					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.774G>C	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994560	0.19043	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.22	1.22	0.21188	.	.	.	.	.	T	0.18841	0.0452	L	0.29908	0.895	0.09310	N	1	D	0.55172	0.97	B	0.40444	0.329	T	0.12091	-1.0561	8	0.49607	T	0.09	.	5.49	0.16771	0.0:1.0:0.0:0.0	.	258	P0C2W7	CT47B_HUMAN	D	258	.	ENSP00000360360:E258D	E	-	3	2	CT47B1	119892779	0.002000	0.14202	0.004000	0.12327	0.027000	0.11550	0.132000	0.15891	0.917000	0.36895	0.171000	0.16805	GAG		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718	Missense_Mutation	34	151	0	0	0	0.003755	0	34	151				
UTP14A	10813	broad.mit.edu	37	X	129040189	129040189	+	Start_Codon_SNP	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:129040189G>T	ENST00000394422.3	+	1	31	c.3G>T	c.(1-3)atG>atT	p.M1I	UTP14A_ENST00000371051.5_5'UTR|UTP14A_ENST00000425117.2_Start_Codon_SNP_p.M1I|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	1					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTGCTGAAATGACTGCGAACC	0.577																																							uc004euz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1-3)ATG>ATT		UTP14, U3 small nucleolar ribonucleoprotein,							96.0	91.0	93.0					X																	129040189		2203	4300	6503	SO:0001582	initiator_codon_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129040189G>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.3G>T	X.37:g.129040189G>T	ENSP00000377944:p.Met1Ile					UTP14A_uc011mup.1_Missense_Mutation_p.M1I|UTP14A_uc011muq.1_5'UTR	p.M1I	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			1	31	+			1					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.3G>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096200	0.56075	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.16597	2.33;2.37	4.63	4.63	0.57726	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.80722	D	1	P;P	0.49447	0.924;0.924	P;P	0.60682	0.878;0.878	T	0.07578	-1.0765	8	0.87932	D	0	-6.3521	11.6748	0.51424	0.0:0.0:1.0:0.0	.	1;1	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	I	1	ENSP00000388669:M1I;ENSP00000377944:M1I	ENSP00000377944:M1I	M	+	3	0	UTP14A	128867870	0.996000	0.38824	0.946000	0.38457	0.015000	0.08874	3.699000	0.54778	2.531000	0.85337	0.600000	0.82982	ATG		0.577	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	19	125	1	0	8.34094e-07	0.008871	1.12404e-06	19	125				
MCF2	4168	broad.mit.edu	37	X	138680577	138680577	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:138680577C>A	ENST00000370576.4	-	17	2126	c.1917G>T	c.(1915-1917)caG>caT	p.Q639H	AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.Q639H|MCF2_ENST00000520602.1_Missense_Mutation_p.Q699H|MCF2_ENST00000519895.1_Missense_Mutation_p.Q715H|MCF2_ENST00000536274.1_Missense_Mutation_p.Q600H|MCF2_ENST00000370578.4_Missense_Mutation_p.Q784H|MCF2_ENST00000338585.6_Missense_Mutation_p.Q655H|MCF2_ENST00000414978.1_Missense_Mutation_p.Q699H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	639	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q639H(2)|p.Q715H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCAACAATAACTGATATTTAG	0.303																																							uc004fau.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(1915-1917)CAG>CAT		MCF.2 cell line derived transforming sequence							106.0	94.0	98.0					X																	138680577		2201	4296	6497	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138680577C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1917G>T	X.37:g.138680577C>A	ENSP00000359608:p.Gln639His					MCF2_uc004fav.2_Missense_Mutation_p.Q655H|MCF2_uc011mwl.1_Missense_Mutation_p.Q616H|MCF2_uc010nsh.1_Missense_Mutation_p.Q639H|MCF2_uc011mwm.1_Missense_Mutation_p.Q600H|MCF2_uc011mwn.1_Missense_Mutation_p.Q784H|MCF2_uc004faw.2_Missense_Mutation_p.Q699H|MCF2_uc011mwo.1_Missense_Mutation_p.Q715H	p.Q639H	NM_005369	NP_005360	P10911	MCF2_HUMAN			17	2211	-	Acute lymphoblastic leukemia(192;0.000127)		639			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1917G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.52|15.52	2.857859|2.857859	0.51376|0.51376	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.51|5.51	3.75|3.75	0.43078|0.43078	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.53561|0.53561	1.675|1.675	0.43857|0.43857	D|D	0.996457|0.996457	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|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0|.	T|T	0.53725|0.53725	-0.8398|-0.8398	10|5	0.87932|.	D|.	0|.	.|.	10.3716|10.3716	0.44058|0.44058	0.0:0.8387:0.0:0.1613|0.0:0.8387:0.0:0.1613	.|.	715;784;600;639;639;784;655;639|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	H|F	699;639;600;784;699;242;715;639;655|143	ENSP00000427745:Q699H;ENSP00000359608:Q639H;ENSP00000438155:Q600H;ENSP00000359610:Q784H;ENSP00000397055:Q699H;ENSP00000405848:Q242H;ENSP00000430276:Q715H;ENSP00000359605:Q639H;ENSP00000342204:Q655H|.	ENSP00000342204:Q655H|.	Q|V	-|-	3|1	2|0	MCF2|MCF2	138508243|138508243	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.702000|0.702000	0.40608|0.40608	1.119000|1.119000	0.31258|0.31258	0.522000|0.522000	0.28464|0.28464	-0.195000|-0.195000	0.12781|0.12781	CAG|GTT		0.303	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		9	44	1	0	3.09899e-07	0.004482	4.23678e-07	9	44				
BAI2	576	broad.mit.edu	37	1	32203823	32203823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32203823delA	ENST00000373658.3	-	18	3091	c.2750delT	c.(2749-2751)ctafs	p.L917fs	BAI2_ENST00000398547.1_Frame_Shift_Del_p.L850fs|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000257070.4_Frame_Shift_Del_p.L917fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.L850fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.L905fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.L559fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.L865fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.L917fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.L917fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	917	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGCTGGGCTAGTACAGCAAA	0.617																																							uc001btn.2		NA																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(2749-2751)CTAfs		brain-specific angiogenesis inhibitor 2							70.0	68.0	69.0					1																	32203823		2203	4300	6503	SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32203823delA	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2750delT	1.37:g.32203823delA	ENSP00000362762:p.Leu917fs					BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Frame_Shift_Del_p.L559fs|BAI2_uc010ogp.1_Frame_Shift_Del_p.L850fs|BAI2_uc010ogq.1_Frame_Shift_Del_p.L917fs|BAI2_uc001bto.2_Frame_Shift_Del_p.L917fs|BAI2_uc001btq.1_Frame_Shift_Del_p.L850fs	p.L917fs	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	18	3104	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	917			Extracellular (Potential).|GPS.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Del	DEL	ENST00000373658.3	37	c.2750delT	CCDS346.2																																																																																				0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		7	34	NA	NA	NA	NA	NA	7	34	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920769	247920769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:247920769delG	ENST00000408896.2	-	1	1213	c.940delC	c.(940-942)caafs	p.Q314fs		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	314					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTCATTATTGCTGCTGAAAG	0.408																																							uc010pza.1		NA																	0				skin(1)	1						c.(940-942)CAAfs		olfactory receptor, family 1, subfamily C,							126.0	118.0	121.0					1																	247920769		1919	4123	6042	SO:0001589	frameshift_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920769delG	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.940delC	1.37:g.247920769delG	ENSP00000386138:p.Gln314fs						p.Q314fs	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	940	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	314			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Frame_Shift_Del	DEL	ENST00000408896.2	37	c.940delC	CCDS41481.1																																																																																				0.408	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			51	134	NA	NA	NA	NA	NA	51	134	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57367632	57367640	+	In_Frame_Del	DEL	CAGATTCTC	CAGATTCTC	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	CAGATTCTC	CAGATTCTC	-	-	CAGATTCTC	CAGATTCTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:57367632_57367640delCAGATTCTC	ENST00000278407.4	+	3	559_567	c.332_340delCAGATTCTC	c.(331-342)acagattctcct>act	p.DSP112del	SERPING1_ENST00000403558.1_In_Frame_Del_p.DSP146del|SERPING1_ENST00000340687.6_In_Frame_Del_p.DSP112del|SERPING1_ENST00000378324.2_In_Frame_Del_p.DSP60del|SERPING1_ENST00000378323.4_In_Frame_Del_p.DSP117del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	112	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S113Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						cagctcccaacagattctcctacccagcc	0.55																																							uc001nkp.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(331-342)ACAGATTCTCCT>ACT		serpin peptidase inhibitor, clade G, member 1																																				SO:0001651	inframe_deletion	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367632_57367640delCAGATTCTC	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.332_340delCAGATTCTC	11.37:g.57367632_57367640delCAGATTCTC	ENSP00000278407:p.Asp112_Pro114del					SERPING1_uc001nkq.1_In_Frame_Del_p.DSP112del|SERPING1_uc010rju.1_In_Frame_Del_p.DSP60del|SERPING1_uc010rjv.1_In_Frame_Del_p.DSP117del|SERPING1_uc001nkr.1_In_Frame_Del_p.DSP112del|SERPING1_uc009ymi.1_In_Frame_Del_p.DSP112del|SERPING1_uc009ymj.1_In_Frame_Del_p.DSP112del|SERPING1_uc001nks.1_Intron	p.DSP112del	NM_000062	NP_000053	P05155	IC1_HUMAN			3	523_531	+			112_114		Missing (in HAE; type 2).	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.332_340delCAGATTCTC	CCDS7962.1																																																																																				0.550	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		11	107	NA	NA	NA	NA	NA	11	107	---	---	---	---
TAS2R20	259295	broad.mit.edu	37	12	11149674	11149674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:11149674delA	ENST00000538986.1	-	1	800	c.801delT	c.(799-801)tttfs	p.F267fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	267					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATATGATTCCAAAAGCTTGGC	0.383																																							uc001qzm.2		NA																	0					0						c.(799-801)TTTfs		taste receptor, type 2, member 20							106.0	106.0	106.0					12																	11149674		2203	4300	6503	SO:0001589	frameshift_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149674delA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.801delT	12.37:g.11149674delA	ENSP00000441624:p.Phe267fs					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.F267fs	NM_176889	NP_795370	P59543	T2R20_HUMAN			1	801	-			267			Helical; Name=7; (Potential).		P59549|Q2HIZ4|Q496D8|Q645X9	Frame_Shift_Del	DEL	ENST00000538986.1	37	c.801delT	CCDS8639.1																																																																																				0.383	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		26	107	NA	NA	NA	NA	NA	26	107	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10322075	10322076	+	Frame_Shift_Ins	INS	-	-	A	rs483352720		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:10322075_10322076insA	ENST00000403437.2	-	5	491_492	c.397_398insT	c.(397-399)tggfs	p.W133fs	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	133	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACCGGCAGCCACTTGTAGGGG	0.53									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(397-399)TGGfs		myosin, heavy chain 8, skeletal muscle,																																				SO:0001589	frameshift_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322075_10322076insA		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.398dupT	17.37:g.10322076_10322076dupA	ENSP00000384330:p.Trp133fs					uc002gml.1_Intron	p.W133fs	NM_002472	NP_002463	P13535	MYH8_HUMAN			5	492_493	-			133			Myosin head-like.		Q14910	Frame_Shift_Ins	INS	ENST00000403437.2	37	c.397_398insT	CCDS11153.1																																																																																				0.530	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		18	145	NA	NA	NA	NA	NA	18	145	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9084723	9084723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:9084723delG	ENST00000397910.4	-	1	7295	c.7092delC	c.(7090-7092)cccfs	p.P2364fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2364	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						TGCTATCTGAGGGGAGCTCAT	0.438																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7090-7092)CCCfs		mucin 16							152.0	148.0	149.0					19																	9084723		1939	4135	6074	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084723delG	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.7092delC	19.37:g.9084723delG	ENSP00000381008:p.Pro2364fs						p.P2364fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7296	-			2364			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.7092delC	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	63	NA	NA	NA	NA	NA	17	63	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157401	145157401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:145157401delG	ENST00000558170.2	-	8	2537	c.1353delC	c.(1351-1353)cccfs	p.P451fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.P451fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.P451fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.P427fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	451	SMAD-MH2 binding domain. {ECO:0000250}.				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)		TATTCATGGTGGGAAACCCAA	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	GRCh37	CD072524	ZEB2	D		c.(1351-1353)CCCfs		zinc finger homeobox 1b							71.0	74.0	73.0					2																	145157401		2203	4300	6503	SO:0001589	frameshift_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157401delG	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.1353delC	2.37:g.145157401delG	ENSP00000454157:p.Pro451fs					ZEB2_uc002tvv.2_Frame_Shift_Del_p.P445fs|ZEB2_uc010zbm.1_Frame_Shift_Del_p.P422fs|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Frame_Shift_Del_p.P480fs	p.P451fs	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1833	-			451			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL	ENST00000558170.2	37	c.1353delC	CCDS2186.1																																																																																				0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		14	70	NA	NA	NA	NA	NA	14	70	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950220	198950220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:198950220delG	ENST00000428675.1	+	2	2377	c.1979delG	c.(1978-1980)tggfs	p.W660fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.W562fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	660	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGGACTTTTGGAATTGTGGC	0.413																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(1978-1980)TGGfs		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						44.0	46.0	45.0					2																	198950220		2203	4300	6503	SO:0001589	frameshift_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950220delG	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1979delG	2.37:g.198950220delG	ENSP00000402861:p.Trp660fs					PLCL1_uc002uuv.3_Frame_Shift_Del_p.W581fs	p.W660fs	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2270	+			660			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	ENST00000428675.1	37	c.1979delG	CCDS2326.2																																																																																				0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		13	74	NA	NA	NA	NA	NA	13	74	---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220366738	220366738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:220366738delT	ENST00000358215.3	+	5	777	c.408delT	c.(406-408)cctfs	p.P136fs	GMPPA_ENST00000373917.3_Frame_Shift_Del_p.P136fs|GMPPA_ENST00000313597.5_Frame_Shift_Del_p.P136fs|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Frame_Shift_Del_p.P136fs|GMPPA_ENST00000373908.1_Frame_Shift_Del_p.P136fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	136					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCGTCACCCTTTCTTACTCC	0.597																																							uc002vlr.2		NA																	0					0						c.(406-408)CCTfs		GDP-mannose pyrophosphorylase A							145.0	133.0	137.0					2																	220366738		2203	4300	6503	SO:0001589	frameshift_variant	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366738delT	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.408delT	2.37:g.220366738delT	ENSP00000350949:p.Pro136fs					GMPPA_uc002vls.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlt.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlu.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlv.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Frame_Shift_Del_p.P136fs	p.P136fs	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	476	+		Renal(207;0.0183)	136					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Frame_Shift_Del	DEL	ENST00000358215.3	37	c.408delT	CCDS2441.1																																																																																				0.597	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		18	169	NA	NA	NA	NA	NA	18	169	---	---	---	---
ERG	2078	broad.mit.edu	37	21	39772482	39772497	+	Splice_Site	DEL	GGGTGTTTTCGTACCT	GGGTGTTTTCGTACCT	-	rs201046610		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	GGGTGTTTTCGTACCT	GGGTGTTTTCGTACCT	-	-	GGGTGTTTTCGTACCT	GGGTGTTTTCGTACCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:39772482_39772497delGGGTGTTTTCGTACCT	ENST00000417133.2	-	8	950_952	c.765_767delAGGTACGAAAACACCC	c.(763-768)ccaggt>cct	p.G256fs	ERG_ENST00000453032.2_Splice_Site_p.G157fs|ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Splice_Site_p.G256fs|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000398905.1_Intron|ERG_ENST00000288319.7_Splice_Site_p.G249fs|ERG_ENST00000398910.1_Splice_Site_p.G256fs|ERG_ENST00000442448.1_Intron|ERG_ENST00000398907.1_Splice_Site_p.G249fs	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	1126					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATCACACAGGGGTGTTTTCGTACCTGGCCTAGTTG	0.468			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NA		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.e8+1		ets-related isoform 4																																				SO:0001630	splice_region_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39772482_39772497delGGGTGTTTTCGTACCT		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.766+1AGGTACGAAAACACCC>-	21.37:g.39772482_39772497delGGGTGTTTTCGTACCT						ERG_uc002yxa.2_Splice_Site_p.D249_splice|ERG_uc011aek.1_Splice_Site_p.D157_splice|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Intron|ERG_uc011ael.1_Splice_Site_p.D256_splice|ERG_uc002yxb.2_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Frame_Shift_Del_p.P255fs|ERG_uc010gny.1_Intron	p.D256_splice	NM_001136155	NP_001129627	P11308	ERG_HUMAN			8	1061	-		Prostate(19;3.6e-06)						A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	DEL	ENST00000417133.2	37	c.766_splice	CCDS46648.1																																																																																				0.468	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	Frame_Shift_Del	8	158	NA	NA	NA	NA	NA	8	158	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42752078	42752078	+	Splice_Site	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:42752078delG	ENST00000330714.3	+	4	761	c.577delG	c.(577-579)gcc>cc	p.A193fs	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	193	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GATACACAAAGGTGGGCCCAC	0.577																																							uc002yzf.1		NA																	0				ovary(2)	2						c.(577-579)GCCfs		myxovirus resistance protein 2							95.0	87.0	90.0					21																	42752078		2203	4300	6503	SO:0001630	splice_region_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42752078delG		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.577+1G>-	21.37:g.42752078delG						MX2_uc011aer.1_Intron	p.A193fs	NM_002463	NP_002454	P20592	MX2_HUMAN			4	681	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	193					B7Z5D3|D3DSI7	Frame_Shift_Del	DEL	ENST00000330714.3	37	c.577delG	CCDS13672.1																																																																																				0.577	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	Frame_Shift_Del	8	65	NA	NA	NA	NA	NA	8	65	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																							uc003haz.1		NA																	2	Deletion - Frameshift(2)		ovary(1)|lung(1)	central_nervous_system(2)|ovary(1)	3						c.(367-369)TTAfs		clock							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1294	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	131	NA	NA	NA	NA	NA	7	131	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33649781	33649781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:33649781delC	ENST00000504830.1	-	8	1547	c.1212delG	c.(1210-1212)gggfs	p.G404fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G404fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	404	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						CATTTTCTTTCCCATCATGCT	0.532										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1210-1212)GGGfs		ADAM metallopeptidase with thrombospondin type 1							141.0	124.0	130.0					5																	33649781		2203	4300	6503	SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649781delC	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.1212delG	5.37:g.33649781delC	ENSP00000422554:p.Gly404fs	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.G404fs	p.G404fs	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1375	-			404			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	c.1212delG	CCDS34140.1																																																																																				0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	90	NA	NA	NA	NA	NA	8	90	---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147793698	147793698	+	Splice_Site	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:147793698delG	ENST00000340253.5	+	10	1261		c.e10-1		FBXO38_ENST00000296701.6_Splice_Site|FBXO38_ENST00000513826.1_Splice_Site|FBXO38_ENST00000394370.3_Splice_Site			Q6PIJ6	FBX38_HUMAN	F-box protein 38						cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTTTTTAGGCAGAATGGC	0.358																																							uc003lpf.1		NA																	0				ovary(4)|skin(2)	6						c.e10-1		F-box protein 38 isoform b							139.0	137.0	138.0					5																	147793698		2203	4300	6503	SO:0001630	splice_region_variant	81545					cytoplasm|nucleus		g.chr5:147793698delG	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1094-1G>-	5.37:g.147793698delG						FBXO38_uc003lpg.1_Splice_Site_p.S365_splice|FBXO38_uc003lph.2_Splice_Site_p.S365_splice	p.S365_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1214	+								Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Splice_Site	DEL	ENST00000340253.5	37	c.1094_splice																																																																																					0.358	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	Intron	12	94	NA	NA	NA	NA	NA	12	94	---	---	---	---
