#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
NADK	65220	broad.mit.edu	37	1	1685646	1685646	+	Splice_Site	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:1685646T>G	ENST00000341426.5	-	10	1166	c.945A>C	c.(943-945)ggA>ggC	p.G315G	NADK_ENST00000378625.1_Splice_Site_p.G460G|NADK_ENST00000341991.3_Splice_Site_p.G315G|NADK_ENST00000342348.5_Splice_Site_p.G283G|NADK_ENST00000344463.4_Splice_Site_p.G460G|NADK_ENST00000492768.1_5'Flank	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACACGATCACTCCTGACAGGG	0.697																																							uc009vkw.2		NA																	0					0						c.(943-945)GGA>GGC		NAD kinase							38.0	42.0	40.0					1																	1685646		2202	4298	6500	SO:0001630	splice_region_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685646T>G	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.944-1A>C	1.37:g.1685646T>G						NADK_uc001aic.2_Silent_p.G315G|NADK_uc001aid.3_Silent_p.G315G|NADK_uc001aie.2_Silent_p.G460G|NADK_uc010nyv.1_Silent_p.G283G|NADK_uc009vkx.1_3'UTR	p.G315G	NM_023018	NP_075394	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	10	1066	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	315					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.945A>C	CCDS30565.1																																																																																				0.697	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	Silent	5	40	0	0	0	0.000602	0	5	40				
TMEM57	55219	broad.mit.edu	37	1	25824898	25824898	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:25824898G>A	ENST00000374343.4	+	11	2115	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TMEM57_ENST00000399763.3_Missense_Mutation_p.E288K|TMEM57_ENST00000399766.3_Missense_Mutation_p.E419K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	646					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATTTGTGGAGACCAGCCC	0.542																																							uc001bkk.2		NA																	0					0						c.(1936-1938)GAG>AAG		transmembrane protein 57							97.0	91.0	93.0					1																	25824898		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25824898G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1936G>A	1.37:g.25824898G>A	ENSP00000363463:p.Glu646Lys					TMEM57_uc009vru.2_Missense_Mutation_p.E419K|TMEM57_uc009vrv.2_Missense_Mutation_p.E288K	p.E646K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	11	2138	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	646					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1936G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884742	0.51908	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	5.75	5.75	0.90469	.	0.048497	0.85682	D	0.000000	T	0.54838	0.1883	L	0.43152	1.355	0.80722	D	1	B;P;B	0.52170	0.241;0.951;0.183	B;B;B	0.42827	0.08;0.399;0.096	T	0.56583	-0.7955	9	0.45353	T	0.12	-18.1308	18.9268	0.92548	0.0:0.0:1.0:0.0	.	288;419;646	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	K	419;288;646	.	ENSP00000363463:E646K	E	+	1	0	TMEM57	25697485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.375000	0.79646	2.706000	0.92434	0.655000	0.94253	GAG		0.542	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		23	110	0	0	0	0.003954	0	23	110				
ZNF683	257101	broad.mit.edu	37	1	26691246	26691246	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:26691246C>A	ENST00000436292.1	-	4	911	c.791G>T	c.(790-792)gGc>gTc	p.G264V	ZNF683_ENST00000403843.1_Missense_Mutation_p.G264V|ZNF683_ENST00000374204.1_Missense_Mutation_p.G264V|ZNF683_ENST00000349618.3_Missense_Mutation_p.G264V			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	264					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGAGCTTGGCCAGAGGCTTG	0.647																																							uc001bmg.1		NA																	0					0						c.(790-792)GGC>GTC		zinc finger protein 683							36.0	40.0	39.0					1																	26691246		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691246C>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.791G>T	1.37:g.26691246C>A	ENSP00000388792:p.Gly264Val					ZNF683_uc001bmh.1_Missense_Mutation_p.G264V|ZNF683_uc009vsj.1_Missense_Mutation_p.G264V	p.G264V	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	909	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	264					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.791G>T		.	.	.	.	.	.	.	.	.	.	C	19.05	3.751306	0.69533	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801	T;T;T;T;T;T	0.25912	2.88;2.88;2.8;2.8;1.77;1.78	4.74	3.78	0.43462	.	0.303007	0.24128	N	0.041297	T	0.22859	0.0552	L	0.32530	0.975	0.20074	N	0.999936	P;P	0.47350	0.879;0.894	P;B	0.45639	0.488;0.437	T	0.07673	-1.0760	10	0.54805	T	0.06	-8.0107	10.3175	0.43745	0.1949:0.8051:0.0:0.0	.	264;264	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	V	264;264;264;264;272;264	ENSP00000384782:G264V;ENSP00000388792:G264V;ENSP00000363320:G264V;ENSP00000344095:G264V;ENSP00000411289:G272V;ENSP00000411290:G264V	ENSP00000344095:G264V	G	-	2	0	ZNF683	26563833	0.111000	0.22076	0.471000	0.27229	0.573000	0.36030	1.115000	0.31209	2.460000	0.83146	0.561000	0.74099	GGC		0.647	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		11	42	1	0	9.70103e-10	0.008291	1.17333e-09	11	42				
TMEM222	84065	broad.mit.edu	37	1	27657260	27657260	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:27657260G>C	ENST00000374076.4	+	2	282	c.244G>C	c.(244-246)Gtc>Ctc	p.V82L	TMEM222_ENST00000608611.1_Missense_Mutation_p.V49L	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	82						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ATCCACAGGAGTCATTCGGGA	0.572																																							uc001bnr.3		NA																	0					0						c.(244-246)GTC>CTC		transmembrane protein 222							152.0	159.0	157.0					1																	27657260		2203	4300	6503	SO:0001583	missense	84065					integral to membrane	protein binding	g.chr1:27657260G>C	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.244G>C	1.37:g.27657260G>C	ENSP00000363189:p.Val82Leu					TMEM222_uc001bns.3_RNA|TMEM222_uc001bnt.3_RNA|TMEM222_uc001bnu.3_Intron	p.V82L	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN			2	297	+			82			Cytoplasmic (Potential).		D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	37	c.244G>C	CCDS297.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.959336|3.959336	0.74016|0.74016	.|.	.|.	ENSG00000186501|ENSG00000186501	ENST00000466759;ENST00000464813|ENST00000374076;ENST00000374073;ENST00000498220	.|.	.|.	.|.	5.0|5.0	1.51|1.51	0.23008|0.23008	.|.	.|0.188124	.|0.45606	.|D	.|0.000349	T|T	0.63177|0.63177	0.2489|0.2489	M|M	0.73430|0.73430	2.235|2.235	0.51012|0.51012	D|D	0.999903|0.999903	.|P	.|0.50156	.|0.932	.|P	.|0.51079	.|0.658	T|T	0.64622|0.64622	-0.6364|-0.6364	5|9	.|0.51188	.|T	.|0.08	-30.2658|-30.2658	10.1681|10.1681	0.42893|0.42893	0.2888:0.0:0.7112:0.0|0.2888:0.0:0.7112:0.0	.|.	.|82	.|Q9H0R3	.|TM222_HUMAN	T|L	63;54|82;49;48	.|.	.|ENSP00000363186:V49L	S|V	+|+	2|1	0|0	TMEM222|TMEM222	27529847|27529847	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.933000|1.933000	0.40153|0.40153	0.539000|0.539000	0.28788|0.28788	-0.119000|-0.119000	0.15052|0.15052	AGT|GTC		0.572	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		3	142	0	0	0	0.009096	0	3	142				
MANEAL	149175	broad.mit.edu	37	1	38265344	38265344	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:38265344C>G	ENST00000373045.6	+	4	1224	c.843C>G	c.(841-843)gcC>gcG	p.A281A	MANEAL_ENST00000525897.1_Silent_p.A87A|MANEAL_ENST00000397631.3_Intron|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Silent_p.A59A	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	281						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCTGGGCCCACCTCCTGA	0.577																																							uc001cby.2		NA																	0					0						c.(841-843)GCC>GCG		mannosidase, endo-alpha-like isoform 3							95.0	95.0	95.0					1																	38265344		2203	4300	6503	SO:0001819	synonymous_variant	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265344C>G	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.843C>G	1.37:g.38265344C>G						MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Silent_p.A59A	p.A281A	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	924	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	281			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	c.843C>G	CCDS44110.1																																																																																				0.577	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		22	83	0	0	0	0.010504	0	22	83				
TMEM61	199964	broad.mit.edu	37	1	55457596	55457596	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:55457596T>A	ENST00000371268.3	+	3	727	c.453T>A	c.(451-453)ccT>ccA	p.P151P	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	151						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGCATACCCTACGGAGGAAG	0.627																																							uc001cyd.2		NA																	0					0						c.(451-453)CCT>CCA		transmembrane protein 61							91.0	81.0	84.0					1																	55457596		2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55457596T>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.453T>A	1.37:g.55457596T>A							p.P151P	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			3	727	+			151						Silent	SNP	ENST00000371268.3	37	c.453T>A	CCDS601.1																																																																																				0.627	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		32	51	0	0	0	0.009535	0	32	51				
SGIP1	84251	broad.mit.edu	37	1	67155945	67155945	+	Missense_Mutation	SNP	A	A	C	rs377722823		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:67155945A>C	ENST00000371037.4	+	17	1593	c.1516A>C	c.(1516-1518)Act>Cct	p.T506P	SGIP1_ENST00000371036.3_Missense_Mutation_p.T306P|SGIP1_ENST00000371035.3_Missense_Mutation_p.T296P|SGIP1_ENST00000237247.6_Missense_Mutation_p.T537P|SGIP1_ENST00000371039.1_Missense_Mutation_p.T307P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	506					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGCTGAAAGCACTTCTTCAAT	0.468																																							uc001dcr.2		NA																	0				ovary(3)	3						c.(1516-1518)ACT>CCT		SH3-domain GRB2-like (endophilin) interacting							157.0	150.0	152.0					1																	67155945		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155945A>C	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1516A>C	1.37:g.67155945A>C	ENSP00000360076:p.Thr506Pro					SGIP1_uc010opd.1_Missense_Mutation_p.T106P|SGIP1_uc001dcs.2_Missense_Mutation_p.T106P|SGIP1_uc001dct.2_Missense_Mutation_p.T106P|SGIP1_uc009wat.2_Missense_Mutation_p.T300P	p.T506P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			17	1733	+			506					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1516A>C	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628890	0.87560	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03982	3.74;3.74;3.74;3.74;3.74	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	L	0.39898	1.24	0.54753	D	0.999981	D;D;D;D	0.76494	0.999;0.995;0.995;0.999	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.50734	-0.8793	10	0.17832	T	0.49	-17.8591	16.5763	0.84648	1.0:0.0:0.0:0.0	.	536;106;296;506	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	P	537;307;296;536;509;306;506	ENSP00000237247:T537P;ENSP00000360078:T307P;ENSP00000360074:T296P;ENSP00000360075:T306P;ENSP00000360076:T506P	ENSP00000237247:T537P	T	+	1	0	SGIP1	66928533	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.923000	0.92808	2.317000	0.78254	0.459000	0.35465	ACT		0.468	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		57	87	0	0	0	0.01441	0	57	87				
DEPDC1	55635	broad.mit.edu	37	1	68944887	68944887	+	Silent	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:68944887T>C	ENST00000456315.2	-	10	2166	c.2052A>G	c.(2050-2052)caA>caG	p.Q684Q	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Silent_p.Q400Q	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	684					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAGGGTACTTGAAGAATTT	0.373																																							uc001dem.3		NA																	0					0						c.(2050-2052)CAA>CAG		DEP domain containing 1 isoform a							117.0	107.0	111.0					1																	68944887		2203	4300	6503	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944887T>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2052A>G	1.37:g.68944887T>C						DEPDC1_uc001dej.3_Silent_p.Q52Q|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.Q400Q	p.Q684Q	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2169	-			684					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.2052A>G	CCDS44159.1																																																																																				0.373	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		11	33	0	0	0	0.008291	0	11	33				
COL11A1	1301	broad.mit.edu	37	1	103455108	103455108	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103455108C>A	ENST00000370096.3	-	29	2672	c.2360G>T	c.(2359-2361)gGa>gTa	p.G787V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G671V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G748V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G799V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	787	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGAATCCTGGAAAACC	0.289																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2359-2361)GGA>GTA		alpha 1 type XI collagen isoform A							61.0	65.0	64.0					1																	103455108		2203	4296	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103455108C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2360G>T	1.37:g.103455108C>A	ENSP00000359114:p.Gly787Val					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G799V|COL11A1_uc001dun.2_Missense_Mutation_p.G748V|COL11A1_uc009weh.2_Missense_Mutation_p.G671V	p.G787V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	29	2678	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	787			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2360G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560510	0.86335	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-5.77;-5.77	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97120	0.9810	10	0.87932	D	0	.	19.2483	0.93912	0.0:1.0:0.0:0.0	.	671;748;799;787	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	787;799;748;671	ENSP00000359114:G787V;ENSP00000351163:G799V;ENSP00000302551:G748V;ENSP00000426533:G671V	ENSP00000302551:G748V	G	-	2	0	COL11A1	103227696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	2.882000	0.98803	0.655000	0.94253	GGA		0.289	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	22	1	0	2.62699e-14	0.003163	3.43529e-14	12	22				
COL11A1	1301	broad.mit.edu	37	1	103481288	103481288	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103481288C>G	ENST00000370096.3	-	12	1736	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G359A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G436A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G487A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	475	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGGACGTCCTGGGGGGCC	0.348																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1423-1425)GGA>GCA		alpha 1 type XI collagen isoform A							30.0	29.0	30.0					1																	103481288		2203	4297	6500	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103481288C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1424G>C	1.37:g.103481288C>G	ENSP00000359114:p.Gly475Ala					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G487A|COL11A1_uc001dun.2_Missense_Mutation_p.G436A|COL11A1_uc009weh.2_Missense_Mutation_p.G359A	p.G475A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	12	1742	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	475			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1424G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678793	0.68042	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.97303	0.9932	10	0.66056	D	0.02	.	18.675	0.91525	0.0:1.0:0.0:0.0	.	359;436;487;475	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	475;487;436;359;487	ENSP00000359114:G475A;ENSP00000351163:G487A;ENSP00000302551:G436A;ENSP00000426533:G359A;ENSP00000408640:G487A	ENSP00000302551:G436A	G	-	2	0	COL11A1	103253876	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.376000	0.79658	2.510000	0.84645	0.585000	0.79938	GGA		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	11	0	0	0	0.006214	0	10	11				
SEC22B	9554	broad.mit.edu	37	1	145112502	145112502	+	RNA	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:145112502G>T	ENST00000453618.1	+	0	803							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GTGTTACAACGAGGAGAAGCA	0.413																																							uc001eml.1		NA																	0					0						c.(475-477)CGA>CTA		SEC22 vesicle trafficking protein homolog B							173.0	162.0	166.0					1																	145112502		2105	4240	6345			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145112502G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112502G>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.R159L	NM_004892	NP_004883	O75396	SC22B_HUMAN			6	616	+			159			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.476G>T																																																																																					0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		8	105	1	0	1.58986e-06	0.008291	1.7952e-06	8	105				
FAM63A	55793	broad.mit.edu	37	1	150974794	150974794	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:150974794A>G	ENST00000361936.5	-	3	1254	c.300T>C	c.(298-300)ctT>ctC	p.L100L	FAM63A_ENST00000493834.2_Silent_p.L5L|FAM63A_ENST00000361738.6_Silent_p.L148L|FAM63A_ENST00000312210.5_5'UTR|FAM63A_ENST00000470877.1_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	100						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGACTGAGGAAGCTCCTGGG	0.572																																							uc001ewf.2		NA																	0				ovary(1)	1						c.(298-300)CTT>CTC		hypothetical protein LOC55793 isoform 1							91.0	92.0	92.0					1																	150974794		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150974794A>G	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.300T>C	1.37:g.150974794A>G						FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Silent_p.L5L|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.L148L|FAM63A_uc001ewg.2_Silent_p.L100L	p.L100L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1984	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		100					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.300T>C	CCDS976.1																																																																																				0.572	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		3	114	0	0	0	0.004672	0	3	114				
SPRR4	163778	broad.mit.edu	37	1	152944388	152944388	+	Missense_Mutation	SNP	C	C	T	rs201207143		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:152944388C>T	ENST00000328051.2	+	2	71	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagcagcggcagcagca	0.552																																							uc001fav.1		NA																	0					0						c.(22-24)CGG>TGG		small proline-rich protein 4		C	TRP/ARG	0,4406		0,0,2203	74.0	76.0	76.0		22	4.6	0.7	1		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPRR4	NM_173080.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	8/80	152944388	1,13005	2203	4300	6503	SO:0001583	missense	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944388C>T	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.22C>T	1.37:g.152944388C>T	ENSP00000332163:p.Arg8Trp						p.R8W	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	85	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	Missense_Mutation	SNP	ENST00000328051.2	37	c.22C>T	CCDS1031.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385550	0.25031	0.0	1.16E-4	ENSG00000184148	ENST00000328051	T	0.20200	2.09	4.64	4.64	0.57946	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	0.999991	P	0.35050	0.482	B	0.11329	0.006	T	0.15435	-1.0437	8	0.59425	D	0.04	.	12.8501	0.57852	0.0:1.0:0.0:0.0	.	8	Q96PI1	SPRR4_HUMAN	W	8	ENSP00000332163:R8W	ENSP00000332163:R8W	R	+	1	2	SPRR4	151211012	0.008000	0.16893	0.651000	0.29564	0.485000	0.33311	0.622000	0.24433	2.395000	0.81488	0.460000	0.39030	CGG		0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		37	102	0	0	0	0.003755	0	37	102				
HAX1	10456	broad.mit.edu	37	1	154247719	154247719	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154247719A>G	ENST00000328703.7	+	5	859	c.646A>G	c.(646-648)Atc>Gtc	p.I216V	HAX1_ENST00000532105.1_Missense_Mutation_p.I88V|HAX1_ENST00000483970.2_Missense_Mutation_p.I224V|HAX1_ENST00000457918.2_Missense_Mutation_p.I168V	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	216	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGACCAAGATCACTAAACC	0.488									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(646-648)ATC>GTC		HCLS1 associated protein X-1 isoform a							69.0	71.0	71.0					1																	154247719		2203	4300	6503	SO:0001583	missense	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154247719A>G	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.646A>G	1.37:g.154247719A>G	ENSP00000329002:p.Ile216Val					HAX1_uc001fet.2_Missense_Mutation_p.I168V|HAX1_uc010peo.1_Missense_Mutation_p.I224V|HAX1_uc009wou.2_Missense_Mutation_p.I141V|HAX1_uc009wov.2_Missense_Mutation_p.I190V	p.I216V	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	807	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		216			Involved in PLN binding.|Involved in GNA13 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).|Involved in ATP2A2 binding.|Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.646A>G	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554001	0.27739	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087;ENST00000532105	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.6	4.49	0.54785	.	0.080390	0.56097	D	0.000025	T	0.54271	0.1848	L	0.31526	0.94	0.32709	N	0.511833	D;D;P;D	0.69078	0.993;0.997;0.526;0.997	D;D;B;D	0.77557	0.984;0.99;0.23;0.99	T	0.54583	-0.8272	10	0.22109	T	0.4	-15.3634	6.281	0.21007	0.8397:0.0:0.1603:0.0	.	224;190;168;216	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	V	216;168;224;220;88	ENSP00000329002:I216V;ENSP00000411448:I168V;ENSP00000435088:I224V;ENSP00000394920:I220V;ENSP00000433951:I88V	ENSP00000329002:I216V	I	+	1	0	HAX1	152514343	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.857000	0.62939	2.122000	0.65172	0.460000	0.39030	ATC		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		25	60	0	0	0	0.00278	0	25	60				
PMVK	10654	broad.mit.edu	37	1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T	rs375698500		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154897618C>T	ENST00000368467.3	-	5	871	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572																																							uc001ffq.2		NA																	0					0						c.(565-567)CGC>CAC		phosphomevalonate kinase		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	138.0	137.0		566	-6.7	0.0	1		137	0,8600		0,0,4300	no	missense	PMVK	NM_006556.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	189/193	154897618	1,13005	2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154897618C>T	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.566G>A	1.37:g.154897618C>T	ENSP00000357452:p.Arg189His						p.R189H	NM_006556	NP_006547	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	889	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		189					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.566G>A	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233881	0.22626	2.27E-4	0.0	ENSG00000163344	ENST00000368467	T	0.43688	0.94	4.86	-6.69	0.01772	.	1.314760	0.04666	N	0.409868	T	0.05502	0.0145	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20472	-1.0274	10	0.07813	T	0.8	0.0425	13.7736	0.63039	0.0:0.7463:0.0:0.2537	.	189	Q15126	PMVK_HUMAN	H	189	ENSP00000357452:R189H	ENSP00000357452:R189H	R	-	2	0	PMVK	153164242	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-1.682000	0.01935	-1.649000	0.01508	0.561000	0.74099	CGC		0.572	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		48	119	0	0	0	0.01441	0	48	119				
OR10K1	391109	broad.mit.edu	37	1	158436005	158436005	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:158436005C>T	ENST00000289451.2	+	1	734	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TAGTCTCCTACATCCGCATCA	0.468																																							uc010pij.1		NA																	0				ovary(1)	1						c.(652-654)TAC>TAT		olfactory receptor, family 10, subfamily K,							129.0	121.0	124.0					1																	158436005		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436005C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.654C>T	1.37:g.158436005C>T							p.Y218Y	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	654	+	all_hematologic(112;0.0378)		218			Cytoplasmic (Potential).		Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.654C>T	CCDS30897.1																																																																																				0.468	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			27	99	0	0	0	0.003954	0	27	99				
ILDR2	387597	broad.mit.edu	37	1	166927096	166927096	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:166927096T>A	ENST00000271417.3	-	2	344	c.289A>T	c.(289-291)Agg>Tgg	p.R97W	ILDR2_ENST00000528703.1_Missense_Mutation_p.R97W|ILDR2_ENST00000526687.1_Missense_Mutation_p.R97W|ILDR2_ENST00000529387.1_Missense_Mutation_p.R97W|ILDR2_ENST00000525740.1_Missense_Mutation_p.R97W|ILDR2_ENST00000469934.2_Missense_Mutation_p.R97W|ILDR2_ENST00000529071.1_Missense_Mutation_p.R97W	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	97	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGTCCTCCTGCTGTCCAAA	0.517																																							uc001gdx.1		NA																	0				ovary(1)	1						c.(289-291)AGG>TGG		immunoglobulin-like domain containing receptor							99.0	98.0	98.0					1																	166927096		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166927096T>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.289A>T	1.37:g.166927096T>A	ENSP00000271417:p.Arg97Trp						p.R97W	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			2	345	-			97			Ig-like V-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.289A>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684490	0.88639	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.77750	0.46;0.89;0.89;0.89;0.47;-1.12;-0.11	6.03	6.03	0.97812	Immunoglobulin subtype (1);	0.088634	0.85682	D	0.000000	T	0.78991	0.4371	L	0.44542	1.39	0.41365	D	0.987455	D	0.76494	0.999	D	0.69142	0.962	T	0.81883	-0.0728	10	0.59425	D	0.04	.	13.005	0.58699	0.0:0.0:0.1344:0.8656	.	97	Q71H61	ILDR2_HUMAN	W	97	ENSP00000271417:R97W;ENSP00000436120:R97W;ENSP00000431316:R97W;ENSP00000437008:R97W;ENSP00000436882:R97W;ENSP00000434273:R97W;ENSP00000432750:R97W	ENSP00000271417:R97W	R	-	1	2	ILDR2	165193720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.735000	0.47377	2.302000	0.77476	0.533000	0.62120	AGG		0.517	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		18	96	0	0	0	0.006122	0	18	96				
KIFAP3	22920	broad.mit.edu	37	1	169951914	169951914	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:169951914G>A	ENST00000361580.2	-	14	1828	c.1601C>T	c.(1600-1602)cCa>cTa	p.P534L	KIFAP3_ENST00000367767.1_Missense_Mutation_p.P490L|KIFAP3_ENST00000367765.1_Missense_Mutation_p.P494L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.P456L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.P236L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	534					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTAAGTCTGGAATGGTCAA	0.378																																							uc001ggv.2		NA																	0				skin(1)	1						c.(1600-1602)CCA>CTA		kinesin-associated protein 3							87.0	87.0	87.0					1																	169951914		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951914G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1601C>T	1.37:g.169951914G>A	ENSP00000354560:p.Pro534Leu					KIFAP3_uc010plx.1_Missense_Mutation_p.P236L	p.P534L	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			14	1872	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		534					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1601C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799407	0.90538	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.048147	0.85682	D	0.000000	T	0.47911	0.1471	L	0.61387	1.9	0.80722	D	1	P	0.41748	0.761	P	0.48368	0.575	T	0.39663	-0.9603	9	.	.	.	-10.9772	18.9759	0.92736	0.0:0.0:1.0:0.0	.	534	Q92845	KIFA3_HUMAN	L	534;494;490;236;456	ENSP00000354560:P534L;ENSP00000356739:P494L;ENSP00000356741:P490L;ENSP00000442712:P236L;ENSP00000444622:P456L	.	P	-	2	0	KIFAP3	168218538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.430000	0.97488	2.573000	0.86826	0.650000	0.86243	CCA		0.378	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		24	66	0	0	0	0.00278	0	24	66				
TNR	7143	broad.mit.edu	37	1	175365768	175365768	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:175365768C>G	ENST00000367674.2	-	5	1860	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D	TNR_ENST00000263525.2_Missense_Mutation_p.E384D			Q92752	TENR_HUMAN	tenascin R	384	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGGCTCCAGCTCCGTGATGG	0.587																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1150-1152)GAG>GAC		tenascin R precursor							131.0	107.0	115.0					1																	175365768		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365768C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1152G>C	1.37:g.175365768C>G	ENSP00000356646:p.Glu384Asp					TNR_uc009wwu.1_Missense_Mutation_p.E384D|TNR_uc010pmz.1_Missense_Mutation_p.A350P	p.E384D	NM_003285	NP_003276	Q92752	TENR_HUMAN			3	1233	-	Renal(580;0.146)		384			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1152G>C	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.167914|2.167914	0.38315|0.38315	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.49720	.|0.77;0.77	5.96|5.96	5.04|5.04	0.67666|0.67666	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.057588	.|0.64402	.|D	.|0.000002	T|T	0.37945|0.37945	0.1022|0.1022	L|L	0.33485|0.33485	1.01|1.01	0.38311|0.38311	D|D	0.943259|0.943259	B|B	0.13145|0.16396	0.007|0.017	B|B	0.11329|0.23419	0.006|0.046	T|T	0.19877|0.19877	-1.0292|-1.0292	7|10	.|0.18710	.|T	.|0.47	.|.	15.1281|15.1281	0.72497|0.72497	0.0:0.9307:0.0:0.0693|0.0:0.9307:0.0:0.0693	.|.	350|384	B4DIX8|Q92752	.|TENR_HUMAN	P|D	109|384	.|ENSP00000356646:E384D;ENSP00000263525:E384D	.|ENSP00000263525:E384D	A|E	-|-	1|3	0|2	TNR|TNR	173632391|173632391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.973000|0.973000	0.29422|0.29422	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCT|GAG		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		21	37	0	0	0	0.008871	0	21	37				
ASTN1	460	broad.mit.edu	37	1	176915135	176915135	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:176915135C>T	ENST00000367654.3	-	13	2411	c.2200G>A	c.(2200-2202)Ggg>Agg	p.G734R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G726R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G726R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G726R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	734					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AACATCTCCCCAAAGAGGGTC	0.502																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2176-2178)GGG>AGG		astrotactin isoform 1							117.0	116.0	116.0					1																	176915135		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915135C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2200G>A	1.37:g.176915135C>T	ENSP00000356626:p.Gly734Arg					ASTN1_uc001glb.1_Missense_Mutation_p.G726R|ASTN1_uc001gld.1_Missense_Mutation_p.G726R|ASTN1_uc009wwx.1_Missense_Mutation_p.G726R	p.G726R	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2388	-			734					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2176G>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.551950	0.86127	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18960	2.18;2.6;2.6;2.19	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.08432	-1.0722	10	0.33141	T	0.24	-28.3555	18.4622	0.90743	0.0:1.0:0.0:0.0	.	734;726;726	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	726;726;734;726;726	ENSP00000356629:G726R;ENSP00000354536:G726R;ENSP00000356626:G734R;ENSP00000395041:G726R	ENSP00000354536:G726R	G	-	1	0	ASTN1	175181758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.229000	0.78088	2.467000	0.83353	0.655000	0.94253	GGG		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		36	103	0	0	0	0.004289	0	36	103				
CACNA1E	777	broad.mit.edu	37	1	181735735	181735735	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:181735735C>A	ENST00000367573.2	+	35	4869	c.4869C>A	c.(4867-4869)atC>atA	p.I1623I	CACNA1E_ENST00000367570.1_Silent_p.I1623I|CACNA1E_ENST00000367567.4_Silent_p.I1230I|CACNA1E_ENST00000360108.3_Silent_p.I1604I|CACNA1E_ENST00000526775.1_Silent_p.I1604I|CACNA1E_ENST00000358338.5_Silent_p.I1555I|CACNA1E_ENST00000357570.5_Silent_p.I1574I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1623					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTATGCCATCATTGGGATGC	0.473																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4867-4869)ATC>ATA		calcium channel, voltage-dependent, R type,							138.0	122.0	127.0					1																	181735735		1913	4138	6051	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181735735C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4869C>A	1.37:g.181735735C>A						CACNA1E_uc009wxs.2_Silent_p.I1511I|CACNA1E_uc001gox.1_Silent_p.I849I|CACNA1E_uc009wxt.2_Silent_p.I849I	p.I1623I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			35	5034	+			1623			IV.|Helical; Name=S5 of repeat IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4869C>A	CCDS55664.1																																																																																				0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	23	1	0	0.00448238	0.004482	0.00474605	9	23				
EDEM3	80267	broad.mit.edu	37	1	184672036	184672036	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:184672036G>A	ENST00000318130.8	-	19	2564	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	EDEM3_ENST00000367512.3_Silent_p.F723F|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	766	PA.				cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGAATAAGAACAGCATGG	0.468																																							uc010pok.1		NA																	0				skin(1)	1						c.(2296-2298)TTC>TTT		ER degradation enhancer, mannosidase alpha-like							130.0	107.0	115.0					1																	184672036		2203	4300	6503	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184672036G>A	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2298C>T	1.37:g.184672036G>A						EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.F766F	p.F766F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			19	2559	-			766			PA.		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.2298C>T	CCDS1363.2																																																																																				0.468	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		9	53	0	0	0	0.004482	0	9	53				
HMCN1	83872	broad.mit.edu	37	1	186143734	186143734	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:186143734A>G	ENST00000271588.4	+	103	16132	c.15903A>G	c.(15901-15903)ccA>ccG	p.P5301P	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Silent_p.P5301P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5301	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTATGCCCAAGAGGTTATC	0.423																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(15901-15903)CCA>CCG		hemicentin 1 precursor							179.0	146.0	157.0					1																	186143734		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143734A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15903A>G	1.37:g.186143734A>G						HMCN1_uc001grs.1_Silent_p.P870P	p.P5301P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			103	16132	+			5301			EGF-like 5; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15903A>G	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	34	0	0	0	0.007413	0	18	34				
CFHR2	3080	broad.mit.edu	37	1	196857314	196857314	+	Intron	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:196857314T>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.W12R|CFHR4_ENST00000367416.2_Missense_Mutation_p.W12R|CFHR4_ENST00000367418.2_Missense_Mutation_p.W12R|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCTGACCTTGTGGGTTTCCTG	0.348																																							uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(34-36)TGG>CGG		complement factor H-related 4 precursor							150.0	144.0	146.0					1																	196857314		2201	4300	6501	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196857314T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-61271T>C	1.37:g.196857314T>C						CFHR4_uc009wyy.2_Missense_Mutation_p.W12R|CFHR4_uc001gtp.2_Missense_Mutation_p.W12R	p.W12R	NM_006684	NP_006675	Q92496	FHR4_HUMAN			1	103	+			12					Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.34T>C		.	.	.	.	.	.	.	.	.	.	.	11.78	1.741027	0.30865	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.39056	1.34;1.1;1.18	2.89	1.75	0.24633	.	.	.	.	.	T	0.44891	0.1315	M	0.73372	2.23	0.09310	N	1	P;P;P	0.49185	0.878;0.92;0.8	P;B;B	0.47786	0.557;0.31;0.278	T	0.33777	-0.9855	9	0.56958	D	0.05	.	4.8163	0.13369	0.0:0.1496:0.0:0.8504	.	12;12;12	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	R	12	ENSP00000356386:W12R;ENSP00000356388:W12R;ENSP00000251424:W12R	ENSP00000251424:W12R	W	+	1	0	CFHR4	195123937	0.064000	0.20934	0.018000	0.16275	0.010000	0.07245	2.421000	0.44688	0.532000	0.28657	0.409000	0.27619	TGG		0.348	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		13	51	0	0	0	0.00245	0	13	51				
LAD1	3898	broad.mit.edu	37	1	201356087	201356087	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:201356087G>C	ENST00000391967.2	-	3	703	c.402C>G	c.(400-402)tcC>tcG	p.S134S	LAD1_ENST00000367313.3_Silent_p.S148S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	134						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GTTCCTTCTTGGAGACTAGGG	0.647																																							uc001gwm.2		NA																	0					0						c.(400-402)TCC>TCG		ladinin 1							41.0	47.0	45.0					1																	201356087		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201356087G>C	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.402C>G	1.37:g.201356087G>C						LAD1_uc009wzu.1_Silent_p.S156S	p.S134S	NM_005558	NP_005549	O00515	LAD1_HUMAN			3	637	-			134					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.402C>G	CCDS1410.1																																																																																				0.647	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		21	65	0	0	0	0.014323	0	21	65				
DSTYK	25778	broad.mit.edu	37	1	205129335	205129335	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:205129335T>C	ENST00000367162.3	-	8	2042	c.2012A>G	c.(2011-2013)aAc>aGc	p.N671S	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.N671S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCCTCCCCAGTTGTCACACAG	0.498																																							uc001hbw.2		NA																	0				lung(1)	1						c.(2011-2013)AAC>AGC		receptor interacting protein kinase 5 isoform 1							148.0	138.0	142.0					1																	205129335		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205129335T>C	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2012A>G	1.37:g.205129335T>C	ENSP00000356130:p.Asn671Ser					DSTYK_uc001hbx.2_Missense_Mutation_p.N671S|DSTYK_uc001hby.1_Missense_Mutation_p.N132S	p.N671S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			8	2076	-			671			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2012A>G	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	T	3.398	-0.122948	0.06795	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.65916	-0.18;-0.18	5.17	-1.26	0.09376	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.222436	0.52532	N	0.000067	T	0.33585	0.0868	N	0.16708	0.43	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.35599	-0.9782	10	0.02654	T	1	-11.1485	7.94	0.29952	0.0:0.5066:0.139:0.3544	.	132;671;671	Q6XUX3-4;Q6XUX3-2;Q6XUX3	.;.;DUSTY_HUMAN	S	671	ENSP00000356129:N671S;ENSP00000356130:N671S	ENSP00000356129:N671S	N	-	2	0	DSTYK	203395958	0.851000	0.29673	0.987000	0.45799	0.988000	0.76386	-0.084000	0.11268	-0.161000	0.10983	0.460000	0.39030	AAC		0.498	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		43	104	0	0	0	0.009718	0	43	104				
KCNH1	3756	broad.mit.edu	37	1	211264027	211264027	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211264027G>A	ENST00000271751.4	-	4	343	c.316C>T	c.(316-318)Cct>Tct	p.P106S	KCNH1_ENST00000367007.4_Missense_Mutation_p.P106S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	106	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCACACAGGTGTCCCTGAA	0.378																																							uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(316-318)CCT>TCT		potassium voltage-gated channel, subfamily H,							77.0	77.0	77.0					1																	211264027		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211264027G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.316C>T	1.37:g.211264027G>A	ENSP00000271751:p.Pro106Ser					KCNH1_uc001hic.2_Missense_Mutation_p.P106S	p.P106S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	4	486	-			106			PAC.|Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.316C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278781	0.80692	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99598	-6.26;-6.26	5.22	5.22	0.72569	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.983;0.997	D	0.99790	1.1031	10	0.32370	T	0.25	.	17.7921	0.88555	0.0:0.0:1.0:0.0	.	106;106	Q14CL3;O95259	.;KCNH1_HUMAN	S	106	ENSP00000271751:P106S;ENSP00000355974:P106S	ENSP00000271751:P106S	P	-	1	0	KCNH1	209330650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.445000	0.97587	2.442000	0.82660	0.655000	0.94253	CCT		0.378	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		7	57	0	0	0	0.004482	0	7	57				
RD3	343035	broad.mit.edu	37	1	211654714	211654714	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211654714C>A	ENST00000367002.4	-	2	1207	c.44G>T	c.(43-45)cGg>cTg	p.R15L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	15					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGTGGACAGCCGGGATGGGGC	0.622																																							uc001him.2		NA																	0				ovary(1)	1						c.(43-45)CGG>CTG		retinal degeneration 3							49.0	49.0	49.0					1																	211654714		2203	4300	6503	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211654714C>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.44G>T	1.37:g.211654714C>A	ENSP00000355969:p.Arg15Leu					RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	p.R15L	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1208	-			15					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.44G>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064776	0.55432	.	.	ENSG00000198570	ENST00000367002	T	0.14144	2.53	4.85	4.85	0.62838	.	0.187880	0.46758	D	0.000274	T	0.38852	0.1056	M	0.72479	2.2	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.21008	-1.0258	10	0.59425	D	0.04	-30.3043	18.3198	0.90234	0.0:1.0:0.0:0.0	.	15	Q7Z3Z2	RD3_HUMAN	L	15	ENSP00000355969:R15L	ENSP00000355969:R15L	R	-	2	0	RD3	209721337	1.000000	0.71417	0.577000	0.28562	0.054000	0.15201	3.415000	0.52700	2.395000	0.81488	0.561000	0.74099	CGG		0.622	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		24	66	1	0	2.79863e-10	0.004656	3.42553e-10	24	66				
GALNT2	2590	broad.mit.edu	37	1	230339028	230339028	+	Silent	SNP	G	G	A	rs376145176		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:230339028G>A	ENST00000366672.4	+	3	438	c.366G>A	c.(364-366)cgG>cgA	p.R122R	GALNT2_ENST00000541865.1_Silent_p.R32R|GALNT2_ENST00000543760.1_Silent_p.R84R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	122					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTGACACCCGGCATGACCAGT	0.537																																							uc010pwa.1		NA																	0				ovary(2)	2						c.(364-366)CGG>CGA		polypeptide N-acetylgalactosaminyltransferase 2							104.0	102.0	103.0					1																	230339028		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230339028G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.366G>A	1.37:g.230339028G>A						GALNT2_uc010pvy.1_Silent_p.R84R|GALNT2_uc010pvz.1_RNA	p.R122R	NM_004481	NP_004472	Q10471	GALT2_HUMAN			3	438	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	122			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.366G>A	CCDS1582.1																																																																																				0.537	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		4	124	0	0	0	0.000602	0	4	124				
TBCE	6905	broad.mit.edu	37	1	235599075	235599075	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:235599075C>T	ENST00000366601.3	+	9	929	c.753C>T	c.(751-753)ctC>ctT	p.L251L	TBCE_ENST00000543662.1_Silent_p.L302L|TBCE_ENST00000406207.1_Silent_p.L251L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	251					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CAGATGTTCTCCAGACAGTCA	0.368																																							uc001hwz.1		NA																	0					0						c.(751-753)CTC>CTT		beta-tubulin cofactor E							121.0	125.0	124.0					1																	235599075		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235599075C>T	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.753C>T	1.37:g.235599075C>T						TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Silent_p.L251L|TBCE_uc010pxr.1_Silent_p.L302L|TBCE_uc001hxb.1_Silent_p.L138L	p.L251L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		9	876	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	251			LRR 4.		A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.753C>T	CCDS1605.1																																																																																				0.368	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		36	90	0	0	0	0.004289	0	36	90				
RYR2	6262	broad.mit.edu	37	1	237880604	237880604	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880604G>T	ENST00000366574.2	+	72	10747	c.10430G>T	c.(10429-10431)gGg>gTg	p.G3477V	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G3461V|RYR2_ENST00000360064.6_Missense_Mutation_p.G3475V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3477					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCCCATTGGGTTGAACATC	0.488																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10429-10431)GGG>GTG		cardiac muscle ryanodine receptor							79.0	84.0	82.0					1																	237880604		1912	4115	6027	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237880604G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10430G>T	1.37:g.237880604G>T	ENSP00000355533:p.Gly3477Val					RYR2_uc010pxz.1_Missense_Mutation_p.G432V	p.G3477V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10550	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3477					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10430G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114550	0.77210	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.98531	-0.07;-4.98;-0.07	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000009	D	0.99133	0.9701	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99581	1.0973	10	0.87932	D	0	-11.4478	19.4201	0.94719	0.0:0.0:1.0:0.0	.	3477	Q92736	RYR2_HUMAN	V	3477;3475;3461;432	ENSP00000355533:G3477V;ENSP00000353174:G3475V;ENSP00000443798:G3461V	ENSP00000353174:G3475V	G	+	2	0	RYR2	235947227	1.000000	0.71417	0.960000	0.40013	0.813000	0.45954	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GGG		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	30	1	0	0.00010058	0.013537	0.000109528	12	30				
RYR2	6262	broad.mit.edu	37	1	237880608	237880608	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880608G>T	ENST00000366574.2	+	72	10751	c.10434G>T	c.(10432-10434)ttG>ttT	p.L3478F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3462F|RYR2_ENST00000360064.6_Missense_Mutation_p.L3476F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3478					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTGGGTTGAACATCTGTG	0.493																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10432-10434)TTG>TTT		cardiac muscle ryanodine receptor							79.0	84.0	82.0					1																	237880608		1910	4117	6027	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237880608G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10434G>T	1.37:g.237880608G>T	ENSP00000355533:p.Leu3478Phe					RYR2_uc010pxz.1_Missense_Mutation_p.L433F	p.L3478F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10554	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3478					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10434G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330150	0.60743	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.98807	-0.51;-5.15;-0.51	5.34	2.39	0.29439	.	0.000000	0.47852	D	0.000202	D	0.98858	0.9614	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97955	1.0334	10	0.87932	D	0	-8.3522	4.3662	0.11225	0.3669:0.1611:0.472:0.0	.	3478	Q92736	RYR2_HUMAN	F	3478;3476;3462;433	ENSP00000355533:L3478F;ENSP00000353174:L3476F;ENSP00000443798:L3462F	ENSP00000353174:L3476F	L	+	3	2	RYR2	235947231	0.998000	0.40836	0.711000	0.30485	0.896000	0.52359	0.523000	0.22925	0.312000	0.23038	0.655000	0.94253	TTG		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	28	1	0	0.00010058	0.013537	0.000109528	12	28				
RYR2	6262	broad.mit.edu	37	1	237886564	237886564	+	Splice_Site	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237886564T>A	ENST00000366574.2	+	74	11006		c.e74+2		RYR2_ENST00000609119.1_Splice_Site|RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGAACAGGTCAGGCTTTGT	0.343																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e74+2		cardiac muscle ryanodine receptor							124.0	113.0	116.0					1																	237886564		1859	4087	5946	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237886564T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10689+2T>A	1.37:g.237886564T>A						RYR2_uc010pxz.1_Splice_Site_p.Q518_splice	p.Q3563_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10809	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.10689_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.796265	0.70567	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.69	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0064	0.58707	0.0:0.0:0.1342:0.8658	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235953187	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	6.037000	0.70956	2.173000	0.68751	0.374000	0.22700	.		0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	15	45	0	0	0	0.003163	0	15	45				
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237947973G>T	ENST00000366574.2	+	90	13278	c.12961G>T	c.(12961-12963)Ggt>Tgt	p.G4321C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305C|RYR2_ENST00000360064.6_Missense_Mutation_p.G4327C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4321					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4319S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCGTCGAAGGTGCTAAAAA	0.522																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12961-12963)GGT>TGT		cardiac muscle ryanodine receptor							78.0	76.0	77.0					1																	237947973		1928	4136	6064	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947973G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12961G>T	1.37:g.237947973G>T	ENSP00000355533:p.Gly4321Cys					RYR2_uc010pya.1_Missense_Mutation_p.G736C	p.G4321C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13081	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4321					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12961G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079922	0.36662	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96967	-4.19;-4.16;-4.18	5.11	4.17	0.49024	.	0.000000	0.64402	D	0.000004	D	0.97632	0.9224	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.97432	1.0016	10	0.59425	D	0.04	-13.1785	14.1591	0.65434	0.0736:0.0:0.9264:0.0	.	1295;4321	B4DGV4;Q92736	.;RYR2_HUMAN	C	4321;4327;4305;1295	ENSP00000355533:G4321C;ENSP00000353174:G4327C;ENSP00000443798:G4305C	ENSP00000353174:G4327C	G	+	1	0	RYR2	236014596	1.000000	0.71417	0.977000	0.42913	0.032000	0.12392	6.510000	0.73729	2.657000	0.90304	0.655000	0.94253	GGT		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	74	1	0	1.26484e-09	0.00308	1.51781e-09	6	74				
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875544G>C	ENST00000302084.2	-	1	561	c.514C>G	c.(514-516)Cgt>Ggt	p.R172G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597																																							uc001idj.1		NA																	0					0						c.(514-516)CGT>GGT		olfactory receptor, family 6, subfamily F,							82.0	90.0	87.0					1																	247875544		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875544G>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.514C>G	1.37:g.247875544G>C	ENSP00000305640:p.Arg172Gly						p.R172G	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	514	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		172			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.514C>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195597	0.09599	.	.	ENSG00000169214	ENST00000302084	T	0.00115	8.71	3.99	-0.598	0.11649	GPCR, rhodopsin-like superfamily (1);	0.929668	0.08880	N	0.880140	T	0.00178	0.0005	L	0.48218	1.51	0.09310	N	1	B	0.18741	0.03	B	0.29077	0.098	T	0.15665	-1.0429	10	0.72032	D	0.01	-3.8193	6.8024	0.23758	0.0962:0.0:0.2814:0.6223	.	172	Q8NGZ6	OR6F1_HUMAN	G	172	ENSP00000305640:R172G	ENSP00000305640:R172G	R	-	1	0	OR6F1	245942167	0.015000	0.18098	0.000000	0.03702	0.062000	0.15995	1.507000	0.35758	0.086000	0.17137	-0.293000	0.09583	CGT		0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		41	74	0	0	0	0.010771	0	41	74				
OR6F1	343169	broad.mit.edu	37	1	247875899	247875899	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875899A>T	ENST00000302084.2	-	1	206	c.159T>A	c.(157-159)caT>caA	p.H53Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATGCAACTGATGGGAGGTGC	0.478																																							uc001idj.1		NA																	0					0						c.(157-159)CAT>CAA		olfactory receptor, family 6, subfamily F,							129.0	125.0	126.0					1																	247875899		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875899A>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.159T>A	1.37:g.247875899A>T	ENSP00000305640:p.His53Gln						p.H53Q	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	159	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		53			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.159T>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	6.024	0.372810	0.11409	.	.	ENSG00000169214	ENST00000302084	T	0.01068	5.38	3.82	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.475735	0.17799	N	0.161638	T	0.00754	0.0025	N	0.16201	0.385	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47005	-0.9150	10	0.27785	T	0.31	-9.0954	6.2177	0.20663	0.1963:0.4363:0.3675:0.0	.	53	Q8NGZ6	OR6F1_HUMAN	Q	53	ENSP00000305640:H53Q	ENSP00000305640:H53Q	H	-	3	2	OR6F1	245942522	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.799000	0.01746	-0.002000	0.14469	-0.456000	0.05471	CAT		0.478	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		41	82	0	0	0	0.007835	0	41	82				
OR2L3	391192	broad.mit.edu	37	1	248224182	248224182	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:248224182C>A	ENST00000359959.3	+	1	199	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCAGCTCTCCCTCATTGACCT	0.428																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CTC>ATC		olfactory receptor, family 2, subfamily L,							317.0	298.0	304.0					1																	248224182		2203	4297	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224182C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.199C>A	1.37:g.248224182C>A	ENSP00000353044:p.Leu67Ile					OR2L13_uc001ids.2_Intron	p.L67I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	199	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		67			Helical; Name=2; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.199C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	0.265	-0.996959	0.02145	.	.	ENSG00000198128	ENST00000359959	T	0.00557	6.62	2.05	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	1.031460	0.07824	N	0.960253	T	0.00300	0.0009	N	0.11364	0.135	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.39781	-0.9597	10	0.36615	T	0.2	.	2.0709	0.03614	0.1243:0.3715:0.1233:0.381	.	67	Q8NG85	OR2L3_HUMAN	I	67	ENSP00000353044:L67I	ENSP00000353044:L67I	L	+	1	0	OR2L3	246290805	0.000000	0.05858	0.028000	0.17463	0.404000	0.30871	-3.594000	0.00420	-1.420000	0.02009	-1.449000	0.01048	CTC		0.428	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		55	419	1	0	1.22119e-34	0.01441	1.77945e-34	55	419				
OR2M7	391196	broad.mit.edu	37	1	248487127	248487127	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:248487127C>A	ENST00000317965.2	-	1	772	c.744G>T	c.(742-744)gtG>gtT	p.V248V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGTACATTCCCACCACCATGA	0.468																																							uc010pzk.1		NA																	0				skin(2)	2						c.(742-744)GTG>GTT		olfactory receptor, family 2, subfamily M,							203.0	185.0	191.0					1																	248487127		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487127C>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.744G>T	1.37:g.248487127C>A							p.V248V	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	744	-	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)		248			Helical; Name=6; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.744G>T	CCDS31111.1																																																																																				0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		59	151	1	0	2.78941e-39	0.01441	4.20472e-39	59	151				
MYO3A	53904	broad.mit.edu	37	10	26446298	26446298	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:26446298C>T	ENST00000265944.5	+	26	3019	c.2853C>T	c.(2851-2853)tgC>tgT	p.C951C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	951	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGTCCGTTGCATCAAACCAA	0.388																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2851-2853)TGC>TGT		myosin IIIA							141.0	136.0	138.0					10																	26446298		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446298C>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.2853C>T	10.37:g.26446298C>T						MYO3A_uc009xko.1_Silent_p.C951C|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.C951C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			26	3213	+			951			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2853C>T	CCDS7148.1																																																																																				0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		22	49	0	0	0	0.00333	0	22	49				
ERCC6	2074	broad.mit.edu	37	10	50708677	50708677	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:50708677C>G	ENST00000355832.5	-	7	1670	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	531	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTTCATCTCCCAGAATTCC	0.478								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(1591-1593)GGA>GCA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							149.0	128.0	135.0					10																	50708677		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50708677C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1592G>C	10.37:g.50708677C>G	ENSP00000348089:p.Gly531Ala					ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR	p.G531A	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			7	1746	-			531			Helicase ATP-binding.		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.1592G>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113715	0.77210	.	.	ENSG00000225830	ENST00000355832	D	0.89343	-2.5	6.17	6.17	0.99709	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.89230	0.6656	N	0.05383	-0.06	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.90803	0.4695	9	0.59425	D	0.04	-21.4414	20.8794	0.99867	0.0:1.0:0.0:0.0	.	531	Q03468	ERCC6_HUMAN	A	531	ENSP00000348089:G531A	ENSP00000348089:G531A	G	-	2	0	ERCC6	50378683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.478	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		21	42	0	0	0	0.012319	0	21	42				
CFAP70	118491	broad.mit.edu	37	10	75037043	75037043	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:75037043G>T	ENST00000310715.3	-	22	2805	c.2685C>A	c.(2683-2685)atC>atA	p.I895I	DNAJC9-AS1_ENST00000440197.2_RNA|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000401621.2_Silent_p.I895I|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Silent_p.I895I|TTC18_ENST00000355577.3_Silent_p.I364I	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		895						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTCCATGAAGATGGTGGTAG	0.378																																							uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2683-2685)ATC>ATA		tetratricopeptide repeat domain 18							131.0	126.0	128.0					10																	75037043		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75037043G>T																												ENST00000310715.3:c.2685C>A	10.37:g.75037043G>T						TTC18_uc001jty.2_Silent_p.I895I|TTC18_uc001jtv.3_5'UTR|TTC18_uc001jtw.3_5'UTR|TTC18_uc001jtx.2_Silent_p.I276I	p.I895I	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			22	2806	-	Prostate(51;0.0119)		895					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.2685C>A	CCDS7324.3																																																																																				0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				33	41	1	0	1.26612e-14	0.003271	1.67719e-14	33	41				
KCNMA1	3778	broad.mit.edu	37	10	78647061	78647061	+	Missense_Mutation	SNP	C	C	A	rs200410171		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:78647061C>A	ENST00000286628.8	-	28	3673	c.3674G>T	c.(3673-3675)cGg>cTg	p.R1225L	RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1228L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1208L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1225L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1194L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1167L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1229L|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1167L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1225					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTGTTTGTCCCGGGACTCCCT	0.547																																							uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(3673-3675)CGG>CTG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						183.0	174.0	177.0					10																	78647061		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647061C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3674G>T	10.37:g.78647061C>A	ENSP00000286628:p.Arg1225Leu					KCNMA1_uc001jxj.2_Missense_Mutation_p.R1171L|KCNMA1_uc001jxk.1_Missense_Mutation_p.R843L|KCNMA1_uc009xrt.1_Missense_Mutation_p.R1016L|KCNMA1_uc001jxl.1_Missense_Mutation_p.R850L|KCNMA1_uc001jxo.2_Missense_Mutation_p.R1208L|KCNMA1_uc001jxm.2_Missense_Mutation_p.R1167L|KCNMA1_uc001jxq.2_Missense_Mutation_p.R1197L|uc001jxp.2_5'Flank	p.R1225L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		28	3851	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1225			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3674G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822071|4.822071	0.90873|0.90873	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.87334	.|-1.99;-2.24;-2.09;-1.96;-2.21;-1.97;-1.96;-1.98;-1.98	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87200|0.87200	0.6118|0.6118	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;D;P;D	.|0.71674	.|0.996;0.997;0.998;0.658;0.998;0.994;0.768;0.997	.|D;D;D;P;D;D;P;D	.|0.81914	.|0.995;0.988;0.995;0.454;0.991;0.988;0.655;0.988	D|D	0.89999|0.89999	0.4113|0.4113	5|10	.|0.54805	.|T	.|0.06	-7.8542|-7.8542	18.7603|18.7603	0.91848|0.91848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1196;1197;1208;1225;1167;978;1228;1194	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	W|L	1118|1167;1104;1160;1199;1162;1194;1167;1199;1229;1228;1208;978	.|ENSP00000361517:R1167L;ENSP00000361485:R1104L;ENSP00000361514:R1160L;ENSP00000396608:R1199L;ENSP00000361520:R1194L;ENSP00000286627:R1167L;ENSP00000385552:R1229L;ENSP00000346321:R1228L;ENSP00000385806:R1208L	.|ENSP00000286627:R1167L	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78317067|78317067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.466000|7.466000	0.80914|0.80914	2.429000|2.429000	0.82318|0.82318	0.460000|0.460000	0.39030|0.39030	GGG|CGG		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		78	69	1	0	2.47556e-37	0.01441	3.67729e-37	78	69				
SORBS1	10580	broad.mit.edu	37	10	97135812	97135812	+	Splice_Site	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:97135812C>T	ENST00000361941.3	-	17	1681	c.1655G>A	c.(1654-1656)aGt>aAt	p.S552N	SORBS1_ENST00000371245.3_Splice_Site_p.S437N|SORBS1_ENST00000371247.2_Splice_Site_p.S552N|SORBS1_ENST00000607232.1_Splice_Site_p.S341N|SORBS1_ENST00000347291.4_Splice_Site_p.S420N|SORBS1_ENST00000371227.4_Splice_Site_p.S506N|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Splice_Site_p.S522N|SORBS1_ENST00000354106.3_Splice_Site_p.S522N|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000277982.5_Splice_Site_p.S574N|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Splice_Site_p.S574N|SORBS1_ENST00000371239.1_Splice_Site_p.S351N|SORBS1_ENST00000353505.5_Splice_Site_p.S437N	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TATATCCCGACTCTATAGGGG	0.388																																							uc001kkp.2		NA																	0				breast(1)	1						c.(1654-1656)AGT>AAT		sorbin and SH3 domain containing 1 isoform 3							65.0	67.0	66.0					10																	97135812		2202	4300	6502	SO:0001630	splice_region_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97135812C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1654-1G>A	10.37:g.97135812C>T						SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.S154N|SORBS1_uc001kkn.2_Missense_Mutation_p.S339N|SORBS1_uc001kkm.2_Missense_Mutation_p.S408N|SORBS1_uc001kko.2_Missense_Mutation_p.S574N|SORBS1_uc001kkq.2_Missense_Mutation_p.S437N|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S506N|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	p.S552N	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	17	1700	-		Colorectal(252;0.0429)	552						Missense_Mutation	SNP	ENST00000361941.3	37	c.1655G>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028596	0.54790	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.77	4.85	0.62838	.	0.000000	0.42420	D	0.000704	T	0.37785	0.1016	N	0.08118	0	0.32409	N	0.550938	P;P;P;P;B;P	0.47762	0.9;0.9;0.839;0.778;0.397;0.682	B;P;B;P;B;B	0.46076	0.39;0.466;0.218;0.503;0.302;0.302	T	0.50955	-0.8766	10	0.49607	T	0.09	-10.7676	13.1144	0.59292	0.0:0.6134:0.3866:0.0	.	506;437;552;574;420;522	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	N	437;552;506;574;522;437;420;552;574;522;351	ENSP00000360291:S437N;ENSP00000360293:S552N;ENSP00000360271:S506N;ENSP00000360292:S574N;ENSP00000377521:S522N;ENSP00000343998:S437N;ENSP00000277985:S420N;ENSP00000355136:S552N;ENSP00000277982:S574N;ENSP00000277984:S522N;ENSP00000360283:S351N	ENSP00000277982:S574N	S	-	2	0	SORBS1	97125802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.930000	0.75858	2.729000	0.93468	0.655000	0.94253	AGT		0.388	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		Missense_Mutation	20	25	0	0	0	0.008871	0	20	25				
DCHS1	8642	broad.mit.edu	37	11	6648021	6648021	+	Splice_Site	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:6648021T>G	ENST00000299441.3	-	14	6660	c.6249A>C	c.(6247-6249)ccA>ccC	p.P2083P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2083	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGACCCACCTGGGGGCGCAT	0.582																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(6247-6249)CCA>CCC		dachsous 1 precursor							26.0	27.0	27.0					11																	6648021		2201	4296	6497	SO:0001630	splice_region_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648021T>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6250+1A>C	11.37:g.6648021T>G							p.P2083P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6659	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2083			Cadherin 20.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.6249A>C	CCDS7771.1																																																																																				0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	Silent	11	17	0	0	0	0.008291	0	11	17				
LYVE1	10894	broad.mit.edu	37	11	10580717	10580717	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:10580717G>T	ENST00000256178.3	-	6	1068	c.910C>A	c.(910-912)Cca>Aca	p.P304T	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_5'Flank|LYVE1_ENST00000529598.1_Missense_Mutation_p.P200T|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	304					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GACTCTTCTGGGTTTTTATCA	0.433																																							uc001miv.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(910-912)CCA>ACA		lymphatic vessel endothelial hyaluronan receptor							304.0	280.0	288.0					11																	10580717		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10580717G>T	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.910C>A	11.37:g.10580717G>T	ENSP00000256178:p.Pro304Thr					uc001miu.2_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.P200T	p.P304T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	6	1196	-			304			Cytoplasmic (Potential).		Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.910C>A	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230703	0.22542	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	T;T	0.29655	3.32;1.56	6.02	-4.46	0.03536	.	0.992225	0.08207	N	0.981281	T	0.20495	0.0493	L	0.57536	1.79	0.09310	N	0.999999	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.36040	-0.9764	10	0.22706	T	0.39	0.0019	0.8828	0.01238	0.2585:0.2349:0.3166:0.19	.	200;304	F2Z296;Q9Y5Y7	.;LYVE1_HUMAN	T	304;200	ENSP00000256178:P304T;ENSP00000436016:P200T	ENSP00000256178:P304T	P	-	1	0	LYVE1	10537293	0.000000	0.05858	0.015000	0.15790	0.906000	0.53458	-1.036000	0.03560	-0.380000	0.07894	0.655000	0.94253	CCA		0.433	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		43	105	1	0	1.62957e-23	0.00874	2.25633e-23	43	105				
RAG1	5896	broad.mit.edu	37	11	36595915	36595915	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:36595915T>A	ENST00000299440.5	+	2	1173	c.1061T>A	c.(1060-1062)cTg>cAg	p.L354Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	354					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGAATTCCCTGATGGTGAAA	0.443									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CD010112	RAG1	D		c.(1060-1062)CTG>CAG		recombination activating gene 1							63.0	61.0	61.0					11																	36595915		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595915T>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1061T>A	11.37:g.36595915T>A	ENSP00000299440:p.Leu354Gln					RAG1_uc001mwt.2_RNA	p.L354Q	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1185	+	all_lung(20;0.226)	all_hematologic(20;0.107)	354			RAG1-type.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1061T>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553463	0.65425	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88818	-2.43;-2.43	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, V(D)J recombination-activating protein 1 (1);	0.000000	0.64402	D	0.000003	D	0.95865	0.8654	M	0.93150	3.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96969	0.9707	10	0.87932	D	0	.	15.4509	0.75271	0.0:0.0:0.0:1.0	.	354	P15918	RAG1_HUMAN	Q	354	ENSP00000434610:L354Q;ENSP00000299440:L354Q	ENSP00000299440:L354Q	L	+	2	0	RAG1	36552491	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	7.698000	0.84413	2.052000	0.61016	0.529000	0.55759	CTG		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		11	44	0	0	0	0.010729	0	11	44				
PRDM11	56981	broad.mit.edu	37	11	45204512	45204512	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:45204512G>A	ENST00000530656.1	+	4	426	c.426G>A	c.(424-426)cgG>cgA	p.R142R	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000263765.4_Silent_p.R142R|PRDM11_ENST00000424263.2_Silent_p.R108R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	142							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCAGACCGGGCGGCGCTCA	0.602																																					NSCLC(118;1511 1736 6472 36603 43224)	NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(424-426)CGG>CGA		PR domain containing 11							71.0	70.0	70.0					11																	45204512		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45204512G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.426G>A	11.37:g.45204512G>A							p.R142R	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			5	675	+			142					Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.426G>A																																																																																					0.602	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		4	61	0	0	0	0.000602	0	4	61				
OR8I2	120586	broad.mit.edu	37	11	55861088	55861088	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:55861088A>G	ENST00000302124.2	+	1	336	c.305A>G	c.(304-306)tAc>tGc	p.Y102C		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTTCAAATGTACTTTTTTGTT	0.403																																							uc010rix.1		NA																	0				breast(1)	1						c.(304-306)TAC>TGC		olfactory receptor, family 8, subfamily I,							142.0	132.0	135.0					11																	55861088		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861088A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.305A>G	11.37:g.55861088A>G	ENSP00000303864:p.Tyr102Cys						p.Y102C	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	305	+	Esophageal squamous(21;0.00693)		102			Helical; Name=3; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.305A>G	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813352	0.32053	.	.	ENSG00000172154	ENST00000302124	T	0.00483	7.09	4.5	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002430	T	0.00580	0.0019	L	0.31120	0.905	0.33838	D	0.631125	D	0.69078	0.997	P	0.61328	0.887	T	0.70208	-0.4935	10	0.51188	T	0.08	-13.5735	8.9829	0.35977	0.5463:0.0:0.0:0.4537	.	102	Q8N0Y5	OR8I2_HUMAN	C	102	ENSP00000303864:Y102C	ENSP00000303864:Y102C	Y	+	2	0	OR8I2	55617664	0.000000	0.05858	0.944000	0.38274	0.324000	0.28378	-0.708000	0.05035	0.158000	0.19367	0.362000	0.22060	TAC		0.403	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		50	107	0	0	0	0.01441	0	50	107				
OR9I1	219954	broad.mit.edu	37	11	57886277	57886277	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:57886277T>G	ENST00000302610.1	-	1	639	c.640A>C	c.(640-642)Atc>Ctc	p.I214L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAAATCAGGATGACGGAGGCA	0.483																																							uc001nml.1		NA																	0				pancreas(1)	1						c.(640-642)ATC>CTC		olfactory receptor, family 9, subfamily I,							102.0	89.0	93.0					11																	57886277		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886277T>G	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.640A>C	11.37:g.57886277T>G	ENSP00000302606:p.Ile214Leu					OR9Q1_uc001nmj.2_Intron	p.I214L	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	640	-		Breast(21;0.0589)	214			Helical; Name=5; (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.640A>C	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073310	0.36566	.	.	ENSG00000172377	ENST00000302610	T	0.00297	8.23	4.87	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000143	T	0.00552	0.0018	M	0.66939	2.045	0.28582	N	0.910093	D	0.76494	0.999	D	0.85130	0.997	T	0.39603	-0.9606	10	0.66056	D	0.02	-32.6861	11.0206	0.47715	0.0:0.0:0.1565:0.8435	.	214	Q8NGQ6	OR9I1_HUMAN	L	214	ENSP00000302606:I214L	ENSP00000302606:I214L	I	-	1	0	OR9I1	57642853	0.116000	0.22171	1.000000	0.80357	0.229000	0.25112	0.415000	0.21181	0.978000	0.38470	-0.644000	0.03951	ATC		0.483	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		11	28	0	0	0	0.010729	0	11	28				
SYT7	9066	broad.mit.edu	37	11	61291970	61291970	+	Silent	SNP	G	G	C	rs146401168		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61291970G>C	ENST00000263846.4	-	6	984	c.657C>G	c.(655-657)ctC>ctG	p.L219L	SYT7_ENST00000542836.1_Silent_p.L263L|SYT7_ENST00000542670.1_Silent_p.L427L|SYT7_ENST00000540677.1_Silent_p.L294L|SYT7_ENST00000535826.1_Silent_p.L338L|SYT7_ENST00000539008.1_Silent_p.L502L|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	219	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGGAGGTAGAGGATCCTCT	0.592																																							uc001nrv.2		NA																	0				ovary(3)|pancreas(1)	4						c.(655-657)CTC>CTG		synaptotagmin VII							88.0	80.0	83.0					11																	61291970		2202	4299	6501	SO:0001819	synonymous_variant	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61291970G>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.657C>G	11.37:g.61291970G>C						SYT7_uc009ynr.2_Silent_p.L294L	p.L219L	NM_004200	NP_004191	O43581	SYT7_HUMAN			6	663	-			219			C2 1.|Cytoplasmic (Potential).		F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	c.657C>G	CCDS31577.1																																																																																				0.592	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		10	54	0	0	0	0.008291	0	10	54				
MYRF	745	broad.mit.edu	37	11	61547315	61547315	+	Splice_Site	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61547315C>T	ENST00000278836.5	+	17	2345	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	MYRF_ENST00000389602.4_Splice_Site_p.S141L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Splice_Site_p.S741L|MYRF_ENST00000327797.1_Splice_Site_p.S396L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	750					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTCCTCAGTCATCGTCCGTG	0.617																																							uc001nsc.1		NA																	0				breast(1)	1						c.(2248-2250)TCA>TTA		myelin gene regulatory factor isoform 2							77.0	72.0	74.0					11																	61547315		2202	4299	6501	SO:0001630	splice_region_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61547315C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2248-1C>T	11.37:g.61547315C>T						C11orf9_uc001nse.1_Missense_Mutation_p.S741L|C11orf9_uc010rll.1_Missense_Mutation_p.S141L	p.S750L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			17	2345	+			750					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2249C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586899	0.86851	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	T;T;T;T	0.44083	1.41;1.42;0.93;1.39	5.23	5.23	0.72850	.	1.271560	0.05089	N	0.484993	T	0.40886	0.1135	L	0.45581	1.43	0.29864	N	0.827379	P;B;B	0.36465	0.554;0.011;0.081	B;B;B	0.27500	0.08;0.007;0.034	T	0.44952	-0.9294	10	0.28530	T	0.3	-0.8707	17.3695	0.87372	0.0:1.0:0.0:0.0	.	141;741;750	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	750;741;396;141	ENSP00000278836:S750L;ENSP00000265460:S741L;ENSP00000333261:S396L;ENSP00000374253:S141L	ENSP00000265460:S741L	S	+	2	0	C11orf9	61303891	0.338000	0.24775	0.261000	0.24466	0.823000	0.46562	3.835000	0.55805	2.610000	0.88304	0.563000	0.77884	TCA		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	Missense_Mutation	4	34	0	0	0	0.009096	0	4	34				
AHNAK	79026	broad.mit.edu	37	11	62301375	62301375	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:62301375C>T	ENST00000378024.4	-	5	788	c.514G>A	c.(514-516)Gac>Aac	p.D172N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	172					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCTATGTCCTTGGCTCCT	0.532																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(514-516)GAC>AAC		AHNAK nucleoprotein isoform 1							146.0	134.0	138.0					11																	62301375		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62301375C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.514G>A	11.37:g.62301375C>T	ENSP00000367263:p.Asp172Asn					AHNAK_uc001ntk.1_Intron	p.D172N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	814	-		Melanoma(852;0.155)	172					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.514G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098576	0.76870	.	.	ENSG00000124942	ENST00000378024	T	0.01484	4.84	5.85	5.85	0.93711	.	0.186174	0.25968	U	0.027149	T	0.02970	0.0088	N	0.22421	0.69	0.26507	N	0.974675	P	0.47350	0.894	P	0.46718	0.525	T	0.48843	-0.8999	10	0.44086	T	0.13	-11.6725	18.9522	0.92644	0.0:1.0:0.0:0.0	.	172	Q09666	AHNK_HUMAN	N	172	ENSP00000367263:D172N	ENSP00000367263:D172N	D	-	1	0	AHNAK	62057951	0.850000	0.29656	1.000000	0.80357	0.996000	0.88848	0.875000	0.28079	2.782000	0.95742	0.655000	0.94253	GAC		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		22	63	0	0	0	0.003954	0	22	63				
VPS51	738	broad.mit.edu	37	11	64875837	64875837	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:64875837C>T	ENST00000279281.3	+	5	986	c.894C>T	c.(892-894)ccC>ccT	p.P298P	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	298					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CTCCGGCTCCCGACGTGTTAG	0.701																																							uc001ocr.1		NA																	0					0						c.(892-894)CCC>CCT		chromosome 11 open reading frame 2							18.0	22.0	20.0					11																	64875837		2199	4296	6495	SO:0001819	synonymous_variant	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64875837C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.894C>T	11.37:g.64875837C>T						C11orf2_uc001ocs.1_Silent_p.P174P	p.P298P	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			5	934	+			298					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.894C>T	CCDS8093.1																																																																																				0.701	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		4	34	0	0	0	0.001984	0	4	34				
LTBP3	4054	broad.mit.edu	37	11	65319748	65319748	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:65319748C>T	ENST00000301873.5	-	7	1584	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	LTBP3_ENST00000322147.4_Missense_Mutation_p.R439Q|LTBP3_ENST00000536982.1_Missense_Mutation_p.R65Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	439	TB 2.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGCTGACACCGCGCGCCCCA	0.642											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001oej.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(1315-1317)CGG>CAG		latent transforming growth factor beta binding							77.0	80.0	79.0					11																	65319748		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319748C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1316G>A	11.37:g.65319748C>T	ENSP00000301873:p.Arg439Gln		OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc010roi.1_Missense_Mutation_p.R322Q|LTBP3_uc001oei.2_Missense_Mutation_p.R439Q|LTBP3_uc010roj.1_Missense_Mutation_p.R140Q|LTBP3_uc010rok.1_Missense_Mutation_p.R350Q	p.R439Q	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			7	1585	-			439			TB 2.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1316G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877723	0.51801	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866;ENST00000530426	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	3.98	3.98	0.46160	Matrix fibril-associated (3);TGF-beta binding (1);	0.263893	0.37053	N	0.002270	T	0.72391	0.3454	N	0.01576	-0.805	0.27567	N	0.949996	P;P;P;P;P	0.50272	0.933;0.645;0.867;0.916;0.919	B;B;B;B;B	0.37780	0.258;0.064;0.153;0.2;0.129	T	0.69289	-0.5184	10	0.14252	T	0.57	.	7.4365	0.27158	0.0:0.8821:0.0:0.1179	.	350;65;322;439;439	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2	.;.;.;LTBP3_HUMAN;.	Q	439;439;65;350;119	ENSP00000326647:R439Q;ENSP00000301873:R439Q;ENSP00000441912:R65Q;ENSP00000435276:R350Q;ENSP00000432476:R119Q	ENSP00000301873:R439Q	R	-	2	0	LTBP3	65076324	0.066000	0.20996	0.904000	0.35570	0.976000	0.68499	0.979000	0.29500	2.060000	0.61445	0.400000	0.26472	CGG		0.642	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		21	99	0	0	0	0.012319	0	21	99				
PPP6R3	55291	broad.mit.edu	37	11	68305257	68305257	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:68305257G>T	ENST00000393800.2	+	3	379	c.125G>T	c.(124-126)cGc>cTc	p.R42L	PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42L|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42L|PPP6R3_ENST00000393799.2_Missense_Mutation_p.R42L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	42					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTCAGAACCGCAAACTTATA	0.368																																							uc001onw.2		NA																	0					0						c.(124-126)CGC>CTC		SAPS domain family, member 3 isoform 6							94.0	91.0	92.0					11																	68305257		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305257G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.125G>T	11.37:g.68305257G>T	ENSP00000377389:p.Arg42Leu					SAPS3_uc010rqb.1_Intron|SAPS3_uc001onv.2_Missense_Mutation_p.R42L|SAPS3_uc001ony.3_Missense_Mutation_p.R42L|SAPS3_uc001onx.2_Missense_Mutation_p.R42L|SAPS3_uc009ysh.2_Missense_Mutation_p.R42L|SAPS3_uc001onu.2_Missense_Mutation_p.R42L|SAPS3_uc010rqc.1_Intron	p.R42L	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		3	392	+			42					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.125G>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499760	0.85176	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.08	5.08	0.68730	.	0.048468	0.85682	D	0.000000	T	0.65637	0.2710	M	0.68593	2.085	0.58432	D	0.999999	P;B;B;B;D;D	0.71674	0.56;0.198;0.308;0.101;0.987;0.998	B;B;B;B;P;D	0.63192	0.429;0.234;0.396;0.103;0.619;0.912	T	0.64676	-0.6351	9	.	.	.	.	18.6681	0.91499	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	L	42	ENSP00000377388:R42L;ENSP00000377389:R42L;ENSP00000433551:R42L;ENSP00000431415:R42L;ENSP00000265637:R42L;ENSP00000433058:R42L;ENSP00000377390:R42L;ENSP00000265636:R42L;ENSP00000437329:R42L;ENSP00000433565:R42L;ENSP00000432837:R42L	.	R	+	2	0	PPP6R3	68061833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.274000	0.78538	2.654000	0.90174	0.563000	0.77884	CGC		0.368	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		15	27	1	0	3.27435e-08	0.00245	3.8389e-08	15	27				
ANO1	55107	broad.mit.edu	37	11	69950160	69950160	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:69950160A>T	ENST00000355303.5	+	4	901	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	ANO1_ENST00000316296.5_Missense_Mutation_p.Q171L|ANO1_ENST00000538023.1_Missense_Mutation_p.Q199L|ANO1_ENST00000530676.1_Missense_Mutation_p.Q83L|ANO1_ENST00000398543.2_Missense_Mutation_p.Q83L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	199					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TCTGTGCTCCAGAAAATCACA	0.532																																							uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(595-597)CAG>CTG		anoctamin 1, calcium activated chloride channel							51.0	53.0	53.0					11																	69950160		1917	4124	6041	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69950160A>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.596A>T	11.37:g.69950160A>T	ENSP00000347454:p.Gln199Leu					ANO1_uc001opk.1_Missense_Mutation_p.Q171L|ANO1_uc001opl.1_RNA	p.Q199L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			4	901	+			199			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.596A>T	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.057391|3.057391	0.55325|0.55325	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000531604;ENST00000316296;ENST00000530676|ENST00000530480	T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;2.19;-0.19;-0.19|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.318671|.	0.31976|.	N|.	0.006769|.	T|.	0.72795|.	0.3505|.	M|M	0.71036|0.71036	2.16|2.16	0.46654|0.46654	D|D	0.999148|0.999148	P;P|.	0.39862|.	0.692;0.57|.	B;B|.	0.38500|.	0.275;0.138|.	T|.	0.73363|.	-0.4006|.	9|.	.|.	.|.	.|.	.|.	14.363|14.363	0.66785|0.66785	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	171;199|.	Q5XXA6-3;Q5XXA6|.	.;ANO1_HUMAN|.	L|X	199;199;83;166;171;83|42	ENSP00000347454:Q199L;ENSP00000444689:Q199L;ENSP00000381551:Q83L;ENSP00000436392:Q166L;ENSP00000319477:Q171L;ENSP00000435797:Q83L|.	.|.	Q|R	+|+	2|1	0|2	ANO1|ANO1	69627808|69627808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	3.592000|3.592000	0.53993|0.53993	1.992000|1.992000	0.58205|0.58205	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		3	13	0	0	0	0.004672	0	3	13				
IQSEC3	440073	broad.mit.edu	37	12	283906	283906	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:283906C>G	ENST00000538872.1	+	14	3374	c.3256C>G	c.(3256-3258)Ccc>Gcc	p.P1086A	IQSEC3_ENST00000326261.4_Missense_Mutation_p.P1086A|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1086	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCACCCACGCCCCCGGGCAC	0.721																																							uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2347-2349)CCC>GCC		IQ motif and Sec7 domain 3							14.0	18.0	17.0					12																	283906		1560	3573	5133	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:283906C>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3256C>G	12.37:g.283906C>G	ENSP00000437554:p.Pro1086Ala						p.P783A	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	2353	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		1086			Pro-rich.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2347C>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539205	0.27475	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.09445	2.98;2.98	3.67	2.77	0.32553	.	0.523902	0.17663	U	0.166246	T	0.05686	0.0149	N	0.19112	0.55	0.23043	N	0.99839	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.45353	T	0.12	.	1.3773	0.02223	0.2203:0.4199:0.2147:0.1451	.	1086	Q9UPP2	IQEC3_HUMAN	A	1086	ENSP00000437554:P1086A;ENSP00000315662:P1086A	ENSP00000315662:P1086A	P	+	1	0	IQSEC3	154167	0.936000	0.31750	0.801000	0.32222	0.782000	0.44232	1.830000	0.39131	0.769000	0.33313	0.298000	0.19748	CCC		0.721	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		5	16	0	0	0	0.001168	0	5	16				
GYS2	2998	broad.mit.edu	37	12	21713361	21713361	+	Missense_Mutation	SNP	G	G	T	rs139043251	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:21713361G>T	ENST00000261195.2	-	8	1382	c.1128C>A	c.(1126-1128)aaC>aaA	p.N376K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	376					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGTTTCCACGTTGAAATTAT	0.373																																					Colon(149;9 1820 3690 10544 50424)	Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(1126-1128)AAC>AAA		glycogen synthase 2							204.0	184.0	191.0					12																	21713361		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21713361G>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1128C>A	12.37:g.21713361G>T	ENSP00000261195:p.Asn376Lys						p.N376K	NM_021957	NP_068776	P54840	GYS2_HUMAN			8	1383	-			376					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1128C>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433744	0.62955	.	.	ENSG00000111713	ENST00000261195	T	0.65916	-0.18	4.87	-2.34	0.06704	.	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.92026	3.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82163	-0.0593	10	0.87932	D	0	-33.8116	13.904	0.63823	0.4299:0.0:0.5701:0.0	.	376	P54840	GYS2_HUMAN	K	376	ENSP00000261195:N376K	ENSP00000261195:N376K	N	-	3	2	GYS2	21604628	0.186000	0.23225	0.987000	0.45799	0.991000	0.79684	-0.202000	0.09451	-0.603000	0.05767	-0.471000	0.05019	AAC		0.373	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		20	86	1	0	1.87028e-06	0.012319	2.10407e-06	20	86				
SYT10	341359	broad.mit.edu	37	12	33529797	33529797	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:33529797A>T	ENST00000228567.3	-	7	1836	c.1540T>A	c.(1540-1542)Tgc>Agc	p.C514S	SYT10_ENST00000535526.1_Missense_Mutation_p.C333S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	514					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGAGAAGGGCAGGATCCTTGA	0.403																																							uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(1540-1542)TGC>AGC		synaptotagmin X							143.0	138.0	140.0					12																	33529797		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529797A>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1540T>A	12.37:g.33529797A>T	ENSP00000228567:p.Cys514Ser					SYT10_uc009zju.1_Missense_Mutation_p.C324S	p.C514S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			7	1837	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		514			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1540T>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584646	0.86748	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.50813	0.73;0.75	4.73	4.73	0.59995	.	0.000000	0.45361	U	0.000367	T	0.34716	0.0907	L	0.28740	0.885	0.80722	D	1	P	0.36874	0.572	B	0.30943	0.122	T	0.35475	-0.9787	10	0.62326	D	0.03	.	14.1138	0.65139	1.0:0.0:0.0:0.0	.	514	Q6XYQ8	SYT10_HUMAN	S	514;333	ENSP00000228567:C514S;ENSP00000438691:C333S	ENSP00000228567:C514S	C	-	1	0	SYT10	33421064	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	8.562000	0.90719	2.054000	0.61138	0.533000	0.62120	TGC		0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		24	62	0	0	0	0.003954	0	24	62				
SCN8A	6334	broad.mit.edu	37	12	52080931	52080931	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:52080931G>A	ENST00000354534.6	+	5	720	c.542G>A	c.(541-543)gGt>gAt	p.G181D	SCN8A_ENST00000550891.1_Missense_Mutation_p.G181D|SCN8A_ENST00000545061.1_Missense_Mutation_p.G181D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	181					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTGCAAGAGGTTTCTGCATA	0.393																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(541-543)GGT>GAT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						134.0	121.0	125.0					12																	52080931		1882	4113	5995	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52080931G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.542G>A	12.37:g.52080931G>A	ENSP00000346534:p.Gly181Asp					SCN8A_uc010snl.1_Missense_Mutation_p.G46D|SCN8A_uc001ryx.1_Missense_Mutation_p.G46D|SCN8A_uc001ryz.1_Missense_Mutation_p.G46D|SCN8A_uc001ryy.2_Missense_Mutation_p.G46D	p.G181D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	5	720	+			181			I.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.542G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495814	0.85069	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.99811	4.8	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.275	D;D;D;B	0.97110	0.999;1.0;1.0;0.107	D	0.97752	1.0215	10	0.87932	D	0	.	18.7233	0.91704	0.0:0.0:1.0:0.0	.	181;181;181;181	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	D	181;181;181;181;94	ENSP00000448415:G181D;ENSP00000346534:G181D;ENSP00000440360:G181D;ENSP00000347255:G181D	ENSP00000346534:G181D	G	+	2	0	SCN8A	50367198	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.718000	0.92993	0.655000	0.94253	GGT		0.393	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	71	0	0	0	0.000602	0	5	71				
OR6C70	390327	broad.mit.edu	37	12	55863743	55863743	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:55863743G>A	ENST00000327335.4	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AATTACGGAGGAAGAAATACA	0.393																																							uc010spn.1		NA																	0				skin(1)	1						c.(178-180)TTC>TTT		olfactory receptor, family 6, subfamily C,							50.0	51.0	51.0					12																	55863743		2203	4300	6503	SO:0001819	synonymous_variant	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863743G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.180C>T	12.37:g.55863743G>A							p.F60F	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	180	-			60			Cytoplasmic (Potential).			Silent	SNP	ENST00000327335.4	37	c.180C>T	CCDS31825.1																																																																																				0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			16	33	0	0	0	0.00499	0	16	33				
FGD6	55785	broad.mit.edu	37	12	95546736	95546736	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:95546736G>C	ENST00000343958.4	-	4	2843	c.2620C>G	c.(2620-2622)Cat>Gat	p.H874D	FGD6_ENST00000546711.1_Missense_Mutation_p.H874D|FGD6_ENST00000549499.1_Missense_Mutation_p.H874D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	874	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGCAATATGATGAACTTTA	0.343																																							uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(2620-2622)CAT>GAT		FYVE, RhoGEF and PH domain containing 6							162.0	157.0	159.0					12																	95546736		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95546736G>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2620C>G	12.37:g.95546736G>C	ENSP00000344446:p.His874Asp					FGD6_uc009zsx.2_Missense_Mutation_p.H7D	p.H874D	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			4	2844	-			874			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2620C>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703938	0.68501	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.29917	1.55;1.55;1.55	6.04	5.1	0.69264	Dbl homology (DH) domain (3);	0.130349	0.35555	N	0.003138	T	0.34308	0.0893	L	0.53249	1.67	0.46901	D	0.999243	P	0.48503	0.911	B	0.43680	0.427	T	0.16541	-1.0399	10	0.62326	D	0.03	-10.561	14.0923	0.65000	0.0773:0.0:0.9227:0.0	.	874	Q6ZV73	FGD6_HUMAN	D	874	ENSP00000344446:H874D;ENSP00000450342:H874D;ENSP00000449005:H874D	ENSP00000344446:H874D	H	-	1	0	FGD6	94070867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.069000	0.71209	1.432000	0.47375	0.561000	0.74099	CAT		0.343	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		4	66	0	0	0	0.009096	0	4	66				
STAB2	55576	broad.mit.edu	37	12	104054517	104054517	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:104054517C>A	ENST00000388887.2	+	17	2049	c.1845C>A	c.(1843-1845)ctC>ctA	p.L615L	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAACCAGCTCATACAGTTCA	0.453																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(1843-1845)CTC>CTA		stabilin 2 precursor							215.0	175.0	189.0					12																	104054517		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104054517C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1845C>A	12.37:g.104054517C>A							p.L615L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			17	2031	+			615			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1845C>A	CCDS31888.1																																																																																				0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	65	1	0	2.79863e-10	0.004656	3.42553e-10	22	65				
CCDC60	160777	broad.mit.edu	37	12	119968728	119968728	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:119968728C>A	ENST00000327554.2	+	13	1876	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	471										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAACTTCCGCCCCGCCAAAAA	0.488																																							uc001txe.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1411-1413)CCC>ACC		coiled-coil domain containing 60							88.0	86.0	87.0					12																	119968728		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119968728C>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1411C>A	12.37:g.119968728C>A	ENSP00000333374:p.Pro471Thr					uc001txf.2_Intron	p.P471T	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	13	1876	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		471						Missense_Mutation	SNP	ENST00000327554.2	37	c.1411C>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706321	0.68615	.	.	ENSG00000183273	ENST00000327554	T	0.22945	1.93	5.82	5.82	0.92795	.	0.399074	0.24014	N	0.042358	T	0.50599	0.1625	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36578	-0.9742	9	.	.	.	-15.2603	17.0004	0.86380	0.0:1.0:0.0:0.0	.	471	Q8IWA6	CCD60_HUMAN	T	471	ENSP00000333374:P471T	.	P	+	1	0	CCDC60	118453111	0.831000	0.29352	0.994000	0.49952	0.969000	0.65631	1.897000	0.39799	2.751000	0.94390	0.655000	0.94253	CCC		0.488	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		44	63	1	0	1.62263e-30	0.01441	2.30941e-30	44	63				
TMEM132D	121256	broad.mit.edu	37	12	129569124	129569124	+	Silent	SNP	G	G	T	rs144267550		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:129569124G>T	ENST00000422113.2	-	6	1893	c.1567C>A	c.(1567-1569)Cgg>Agg	p.R523R	TMEM132D_ENST00000389441.4_Silent_p.R61R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	523					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		AGCGGAAGCCGGGGCACCCAC	0.567																																							uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1567-1569)CGG>AGG		transmembrane protein 132D precursor							101.0	76.0	84.0					12																	129569124		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129569124G>T	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.1567C>A	12.37:g.129569124G>T						TMEM132D_uc001uia.2_Silent_p.R61R	p.R523R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1895	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	523			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1567C>A	CCDS9266.1																																																																																				0.567	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		14	32	1	0	6.53275e-17	0.00245	8.76764e-17	14	32				
GOLGA3	2802	broad.mit.edu	37	12	133372559	133372559	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:133372559T>A	ENST00000450791.2	-	10	2531	c.2348A>T	c.(2347-2349)cAg>cTg	p.Q783L	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q783L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q783L			Q08378	GOGA3_HUMAN	golgin A3	783					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTGGCCGCCTGCAAAGCCGC	0.582																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2347-2349)CAG>CTG		Golgi autoantigen, golgin subfamily a, 3							63.0	65.0	64.0					12																	133372559		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372559T>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2348A>T	12.37:g.133372559T>A	ENSP00000410378:p.Gln783Leu					GOLGA3_uc001ula.1_Missense_Mutation_p.Q783L|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q783L	p.Q783L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	2907	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	783			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2348A>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303120	0.81136	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.36878	1.69;1.69;1.69;1.23;1.23	5.54	5.54	0.83059	.	0.050686	0.85682	D	0.000000	T	0.56262	0.1973	M	0.74258	2.255	0.80722	D	1	P;P;D	0.63046	0.897;0.897;0.992	P;P;P	0.58660	0.675;0.585;0.843	T	0.59747	-0.7396	10	0.52906	T	0.07	.	15.6818	0.77376	0.0:0.0:0.0:1.0	.	783;783;783	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	783	ENSP00000204726:Q783L;ENSP00000410378:Q783L;ENSP00000409303:Q783L;ENSP00000442143:Q783L;ENSP00000442603:Q783L	ENSP00000204726:Q783L	Q	-	2	0	GOLGA3	131882632	1.000000	0.71417	0.932000	0.37286	0.307000	0.27823	8.040000	0.89188	2.118000	0.64928	0.533000	0.62120	CAG		0.582	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		11	87	0	0	0	0.010729	0	11	87				
MTUS2	23281	broad.mit.edu	37	13	29608081	29608081	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:29608081C>G	ENST00000431530.3	+	2	2353	c.2295C>G	c.(2293-2295)gtC>gtG	p.V765V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	755	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATTATGAAGTCCCTCCAACTT	0.443																																							uc001usl.3		NA																	0					0						c.(2293-2295)GTC>GTG		hypothetical protein LOC23281 isoform a							91.0	88.0	89.0					13																	29608081		1943	4144	6087	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608081C>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2295C>G	13.37:g.29608081C>G							p.V765V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2353	+			755			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.2295C>G	CCDS45022.1																																																																																				0.443	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		10	24	0	0	0	0.006214	0	10	24				
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:61986212C>G	ENST00000409186.1	-	5	4125	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V674L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	674	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458																																							uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2020-2022)GTC>CTC		protocadherin 20							89.0	88.0	89.0					13																	61986212		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986212C>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2020G>C	13.37:g.61986212C>G	ENSP00000386653:p.Val674Leu					PCDH20_uc010thj.1_Missense_Mutation_p.V674L	p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2384	-		Breast(118;0.195)|Prostate(109;0.229)	647			Cadherin 5.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2020G>C	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376298	0.42105	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.02916	4.11;4.11	5.94	5.94	0.96194	.	0.000000	0.53938	D	0.000041	T	0.03827	0.0108	L	0.50993	1.605	0.80722	D	1	P	0.38617	0.64	B	0.36567	0.228	T	0.56517	-0.7966	10	0.14252	T	0.57	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	674	A8K1K9	.	L	674;674;420	ENSP00000387250:V674L;ENSP00000386653:V674L	ENSP00000351500:V420L	V	-	1	0	PCDH20	60884213	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	6.022000	0.70839	2.812000	0.96745	0.557000	0.71058	GTC		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		25	45	0	0	0	0.00278	0	25	45				
SLITRK6	84189	broad.mit.edu	37	13	86369859	86369859	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:86369859T>C	ENST00000400286.2	-	2	1383	c.785A>G	c.(784-786)aAg>aGg	p.K262R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	262	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGATTCCTTCTTTAGTCTACT	0.398																																							uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(784-786)AAG>AGG		slit and trk like 6 precursor							104.0	93.0	97.0					13																	86369859		1889	4110	5999	SO:0001583	missense	84189					integral to membrane		g.chr13:86369859T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.785A>G	13.37:g.86369859T>C	ENSP00000383143:p.Lys262Arg					SLITRK6_uc010afe.1_Missense_Mutation_p.K27R	p.K262R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1244	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		262			Extracellular (Potential).|LRRCT 1.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.785A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	2.876	-0.232820	0.05983	.	.	ENSG00000184564	ENST00000400286	T	0.42131	0.98	5.95	5.95	0.96441	Cysteine-rich flanking region, C-terminal (1);	0.049849	0.85682	D	0.000000	T	0.24812	0.0602	N	0.16066	0.365	0.37352	D	0.910821	B	0.17465	0.022	B	0.17433	0.018	T	0.24440	-1.0160	10	0.16896	T	0.51	-27.0276	10.4102	0.44289	0.0:0.0761:0.0:0.9239	.	262	Q9H5Y7	SLIK6_HUMAN	R	262	ENSP00000383143:K262R	ENSP00000383143:K262R	K	-	2	0	SLITRK6	85267860	1.000000	0.71417	0.999000	0.59377	0.074000	0.17049	5.053000	0.64269	2.281000	0.76405	0.528000	0.53228	AAG		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		22	28	0	0	0	0.012319	0	22	28				
NALCN	259232	broad.mit.edu	37	13	101881875	101881875	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:101881875T>C	ENST00000251127.6	-	13	1576	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.I499V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	499					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCAAATATCTTGTACACA	0.388																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1495-1497)ATA>GTA		voltage gated channel like 1							108.0	117.0	114.0					13																	101881875		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101881875T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1495A>G	13.37:g.101881875T>C	ENSP00000251127:p.Ile499Val					NALCN_uc001voy.2_Missense_Mutation_p.I214V|NALCN_uc001voz.2_Missense_Mutation_p.I499V|NALCN_uc001vpa.2_Missense_Mutation_p.I499V	p.I499V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			13	1684	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		499			Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1495A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414020	0.83449	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98400	-4.91;-4.91	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99731	1.1012	10	0.56958	D	0.05	.	15.4499	0.75265	0.0:0.0:0.0:1.0	.	499;499;499	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	V	499	ENSP00000251127:I499V;ENSP00000365367:I499V	ENSP00000251127:I499V	I	-	1	0	NALCN	100679876	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.572000	0.82409	2.051000	0.60960	0.528000	0.53228	ATA		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		109	48	0	0	0	0.01441	0	109	48				
OR4E2	26686	broad.mit.edu	37	14	22133530	22133530	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:22133530G>T	ENST00000408935.1	+	1	234	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGTCACTGTGCCTAAGATGT	0.443																																							uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(232-234)GTG>GTT		olfactory receptor, family 4, subfamily E,							267.0	254.0	258.0					14																	22133530		1992	4184	6176	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133530G>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.234G>T	14.37:g.22133530G>T							p.V78V	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	234	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	78			Helical; Name=2; (Potential).		Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.234G>T	CCDS41916.1																																																																																				0.443	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			98	175	1	0	6.00224e-42	0.01441	9.0925e-42	98	175				
FANCM	57697	broad.mit.edu	37	14	45658096	45658096	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:45658096G>T	ENST00000267430.5	+	20	4956	c.4871G>T	c.(4870-4872)tGt>tTt	p.C1624F	FANCM_ENST00000542564.2_Missense_Mutation_p.C1598F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1624					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)			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						GAAGAAGTTTGTGTTGATTTT	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(4870-4872)TGT>TTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							85.0	87.0	86.0					14																	45658096		2203	4298	6501	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.chr14:45658096G>T	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.4871G>T	14.37:g.45658096G>T	ENSP00000267430:p.Cys1624Phe					FANCM_uc010anf.2_Missense_Mutation_p.C1598F|FANCM_uc001wwe.3_Missense_Mutation_p.C1160F|FANCM_uc010ang.2_Missense_Mutation_p.C838F	p.C1624F	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	4970	+			1624					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4871G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.691583|1.691583	0.30052|0.30052	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.76968|.	-1.06;-1.06;-1.06|.	5.67|5.67	1.72|1.72	0.24424|0.24424	.|.	0.660669|.	0.16695|.	N|.	0.203369|.	T|T	0.33206|0.33206	0.0855|0.0855	L|L	0.42245|0.42245	1.32|1.32	0.28503|0.28503	N|N	0.913912|0.913912	B;B|.	0.12630|.	0.006;0.003|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|5	0.52906|.	T|.	0.07|.	.|.	3.1287|3.1287	0.06415|0.06415	0.1425:0.2602:0.4628:0.1345|0.1425:0.2602:0.4628:0.1345	.|.	1598;1624|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	F|F	1624;1598;1140|556	ENSP00000267430:C1624F;ENSP00000442493:C1598F;ENSP00000452033:C1140F|.	ENSP00000267430:C1624F|.	C|L	+|+	2|3	0|2	FANCM|FANCM	44727846|44727846	0.369000|0.369000	0.25039|0.25039	0.935000|0.935000	0.37517|0.37517	0.996000|0.996000	0.88848|0.88848	0.153000|0.153000	0.16323|0.16323	0.110000|0.110000	0.17919|0.17919	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		25	55	1	0	9.57634e-11	0.00333	1.1816e-10	25	55				
SLC8A3	6547	broad.mit.edu	37	14	70633711	70633711	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:70633711C>A	ENST00000381269.2	-	2	2182	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	SLC8A3_ENST00000528359.1_Missense_Mutation_p.D477Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D477Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D477Y|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D477Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	477	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGTGTTCATCCTCCTCAAAA	0.517																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1429-1431)GAT>TAT		solute carrier family 8 (sodium/calcium							151.0	152.0	152.0					14																	70633711		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633711C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1429G>T	14.37:g.70633711C>A	ENSP00000370669:p.Asp477Tyr					SLC8A3_uc001xlw.2_Missense_Mutation_p.D477Y|SLC8A3_uc001xlx.2_Missense_Mutation_p.D477Y|SLC8A3_uc001xlz.2_Missense_Mutation_p.D477Y|SLC8A3_uc010ara.2_RNA	p.D477Y	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2183	-			477			Calx-beta 1.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1429G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319735	0.60524	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.52	5.52	0.82312	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	H	0.96111	3.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84814	0.0792	10	0.87932	D	0	.	19.4433	0.94836	0.0:1.0:0.0:0.0	.	477;477;477;477	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Y	477	ENSP00000349392:D477Y;ENSP00000370669:D477Y;ENSP00000350560:D477Y;ENSP00000436688:D477Y;ENSP00000433531:D477Y	ENSP00000349392:D477Y	D	-	1	0	SLC8A3	69703464	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.811000	0.86092	2.582000	0.87167	0.637000	0.83480	GAT		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			63	167	1	0	3.13296e-38	0.01441	4.69944e-38	63	167				
VASH1	22846	broad.mit.edu	37	14	77242295	77242295	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:77242295C>A	ENST00000167106.4	+	5	1224	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000554743.1_5'Flank|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.7_ENST00000553758.1_lincRNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	197					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGACCTACTTCTCAGGGAACT	0.617																																							uc001xst.2		NA																	0					0						c.(589-591)TTC>TTA		vasohibin 1							33.0	28.0	30.0					14																	77242295		2202	4298	6500	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77242295C>A	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.591C>A	14.37:g.77242295C>A	ENSP00000167106:p.Phe197Leu						p.F197L	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1521	+			197					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.591C>A	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642902	0.87859	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	5.22	0.72569	.	0.144193	0.64402	D	0.000004	T	0.57286	0.2043	L	0.54323	1.7	0.80722	D	1	P	0.50156	0.932	B	0.42593	0.392	T	0.60811	-0.7189	9	0.42905	T	0.14	-9.8607	18.7697	0.91887	0.0:1.0:0.0:0.0	.	197	Q7L8A9	VASH1_HUMAN	L	197	.	ENSP00000167106:F197L	F	+	3	2	VASH1	76312048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.072000	0.71238	2.433000	0.82419	0.655000	0.94253	TTC		0.617	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		4	11	1	0	0.00024832	0.009096	0.000268501	4	11				
UNC79	57578	broad.mit.edu	37	14	94079309	94079309	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94079309G>T	ENST00000393151.2	+	27	3921	c.3921G>T	c.(3919-3921)acG>acT	p.T1307T	UNC79_ENST00000256339.4_Silent_p.T1130T|UNC79_ENST00000555664.1_Silent_p.T1307T|UNC79_ENST00000553484.1_Silent_p.T1329T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1307					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTCAACACGGTCAAGCGAC	0.488																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3454-3456)ACG>ACT		hypothetical protein LOC57578							142.0	117.0	125.0					14																	94079309		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94079309G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3921G>T	14.37:g.94079309G>T						KIAA1409_uc001ybs.1_Silent_p.T1130T	p.T1152T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	25	3539	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1307					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3456G>T																																																																																					0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	53	1	0	3.27435e-08	0.00245	3.8389e-08	14	53				
HHIPL1	84439	broad.mit.edu	37	14	100119151	100119151	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:100119151C>T	ENST00000330710.5	+	2	944	c.846C>T	c.(844-846)atC>atT	p.I282I	HHIPL1_ENST00000357223.2_Silent_p.I282I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	282					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GGATCCGCATCAGCGAGTTCA	0.627																																							uc010avs.2		NA																	0				skin(2)	2						c.(844-846)ATC>ATT		HHIP-like protein 1 isoform a							43.0	39.0	40.0					14																	100119151		2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119151C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.846C>T	14.37:g.100119151C>T						HHIPL1_uc001ygl.1_Silent_p.I282I	p.I282I	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	911	+		Melanoma(154;0.128)	282					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.846C>T	CCDS45162.1																																																																																				0.627	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		5	35	0	0	0	0.000602	0	5	35				
GABRB3	2562	broad.mit.edu	37	15	27017582	27017582	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27017582G>A	ENST00000311550.5	-	3	318	c.207C>T	c.(205-207)atC>atT	p.I69I	GABRB3_ENST00000541819.2_Silent_p.I125I|GABRB3_ENST00000299267.4_Silent_p.I69I|GABRB3_ENST00000557641.1_5'UTR	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	69					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGATGCTGGCGATGTCGATGT	0.692																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(205-207)ATC>ATT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						40.0	34.0	36.0					15																	27017582		2199	4299	6498	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27017582G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.207C>T	15.37:g.27017582G>A						GABRB3_uc001zba.2_Silent_p.I69I|GABRB3_uc001zbb.2_Silent_p.I125I	p.I69I	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	3	349	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	69			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.207C>T	CCDS10019.1																																																																																				0.692	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			9	7	0	0	0	0.008291	0	9	7				
GABRG3	2567	broad.mit.edu	37	15	27765254	27765254	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27765254A>G	ENST00000333743.6	+	7	1103	c.849A>G	c.(847-849)ccA>ccG	p.P283P	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	283					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCTACGCCAGCAAGAACAG	0.353																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	0					0						c.(847-849)CCA>CCG		gamma-aminobutyric acid (GABA) A receptor, gamma							59.0	56.0	57.0					15																	27765254		1836	4104	5940	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27765254A>G		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.849A>G	15.37:g.27765254A>G							p.P283P	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	7	1015	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	283			Helical; (Probable).		G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.849A>G	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	8.936	0.964732	0.18583	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.39	1.72	0.24424	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40079	-0.9582	4	.	.	.	.	5.7606	0.18199	0.6683:0.0:0.0712:0.2605	.	.	.	.	R	46	.	.	Q	+	2	0	GABRG3	25438849	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.063000	0.41423	0.114000	0.18032	0.528000	0.53228	CAG		0.353	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			6	9	0	0	0	0.006214	0	6	9				
ICE2	79664	broad.mit.edu	37	15	60768320	60768320	+	Missense_Mutation	SNP	T	T	G	rs372175361		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:60768320T>G	ENST00000261520.4	-	3	322	c.88A>C	c.(88-90)Aat>Cat	p.N30H	NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.N30H|NARG2_ENST00000439632.1_5'UTR	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTTATAATTTTCTCGAGAG	0.313																																							uc002agp.2		NA																	0				ovary(1)|lung(1)	2						c.(88-90)AAT>CAT		NMDA receptor regulated 2 isoform a		T	HIS/ASN,	0,4404		0,0,2202	50.0	53.0	52.0		88,	5.7	1.0	15		52	1,8589	1.2+/-3.3	0,1,4294	no	missense,utr-5	NARG2	NM_024611.4,NM_001018089.1	68,	0,1,6496	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,	30/983,	60768320	1,12993	2202	4295	6497	SO:0001583	missense	79664					nucleus		g.chr15:60768320T>G																												ENST00000261520.4:c.88A>C	15.37:g.60768320T>G	ENSP00000261520:p.Asn30His					NARG2_uc002ago.2_5'UTR|NARG2_uc010bgk.2_Missense_Mutation_p.N30H|NARG2_uc002agr.1_Missense_Mutation_p.N30H	p.N30H	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			3	323	-			30						Missense_Mutation	SNP	ENST00000261520.4	37	c.88A>C	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423364	0.62733	0.0	1.16E-4	ENSG00000128915	ENST00000261520	.	.	.	5.73	5.73	0.89815	.	0.543378	0.20136	N	0.098498	T	0.48447	0.1500	N	0.19112	0.55	0.80722	D	1	D	0.62365	0.991	P	0.54270	0.747	T	0.36890	-0.9729	9	0.25106	T	0.35	-30.465	11.9708	0.53062	0.0:0.0:0.2144:0.7856	.	30	Q659A1	NARG2_HUMAN	H	30	.	ENSP00000261520:N30H	N	-	1	0	NARG2	58555612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.495000	0.45337	2.302000	0.77476	0.533000	0.62120	AAT		0.313	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			6	42	0	0	0	0.001168	0	6	42				
VPS13C	54832	broad.mit.edu	37	15	62176408	62176408	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:62176408C>T	ENST00000261517.5	-	68	9475	c.9402G>A	c.(9400-9402)caG>caA	p.Q3134Q	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Silent_p.Q3091Q|VPS13C_ENST00000395898.3_Silent_p.Q3091Q|VPS13C_ENST00000395896.4_Silent_p.Q3134Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAAGATTATCTGCTTTTGAC	0.313																																							uc002agz.2		NA																	0				ovary(2)	2						c.(9400-9402)CAG>CAA		vacuolar protein sorting 13C protein isoform 2A							149.0	142.0	145.0					15																	62176408		2202	4296	6498	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62176408C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9402G>A	15.37:g.62176408C>T						VPS13C_uc002aha.2_Silent_p.Q3091Q|VPS13C_uc002ahb.1_Silent_p.Q3134Q|VPS13C_uc002ahc.1_Silent_p.Q3091Q	p.Q3134Q	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			68	9476	-			3134						Silent	SNP	ENST00000261517.5	37	c.9402G>A	CCDS32257.1																																																																																				0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		17	46	0	0	0	0.004007	0	17	46				
HERC1	8925	broad.mit.edu	37	15	64041977	64041977	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:64041977C>T	ENST00000443617.2	-	9	2003	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	639					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCTCCACAGCCCCAAGCATA	0.383																																							uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(1915-1917)GGC>GAC		hect domain and RCC1-like domain 1							38.0	35.0	36.0					15																	64041977		1896	4112	6008	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64041977C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1916G>A	15.37:g.64041977C>T	ENSP00000390158:p.Gly639Asp					HERC1_uc010uil.1_Intron	p.G639D	NM_003922	NP_003913	Q15751	HERC1_HUMAN			9	2064	-			639			RCC1 6.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1916G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915383	0.92178	.	.	ENSG00000103657	ENST00000443617	D	0.99957	-9.0	5.73	5.73	0.89815	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.99969	0.9989	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96864	0.9634	10	0.87932	D	0	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	639	Q15751	HERC1_HUMAN	D	639	ENSP00000390158:G639D	ENSP00000390158:G639D	G	-	2	0	HERC1	61829030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.818000	0.86416	2.718000	0.92993	0.650000	0.86243	GGC		0.383	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	2	0	0	0	0.000602	0	4	2				
IQCH	64799	broad.mit.edu	37	15	67709303	67709303	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:67709303C>G	ENST00000335894.4	+	15	2198	c.2132C>G	c.(2131-2133)gCg>gGg	p.A711G	IQCH_ENST00000546225.1_Missense_Mutation_p.A368G|IQCH_ENST00000358767.3_Missense_Mutation_p.A447G|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.A372G	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	711										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAGGAGCTGGCGGGCATTTTA	0.443																																							uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(2131-2133)GCG>GGG		IQ motif containing H isoform 1							53.0	51.0	52.0					15																	67709303		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67709303C>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2132C>G	15.37:g.67709303C>G	ENSP00000336861:p.Ala711Gly					IQCH_uc002aqq.1_Missense_Mutation_p.A368G|IQCH_uc002aqp.1_Missense_Mutation_p.A372G|uc002aqr.1_Intron	p.A711G	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	15	2179	+			711					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2132C>G	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195828	0.78902	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.2	2.22	0.28083	.	0.298592	0.35013	N	0.003520	T	0.57636	0.2067	M	0.72479	2.2	0.28690	N	0.904628	D;D;B	0.54207	0.965;0.965;0.412	P;P;B	0.60609	0.828;0.877;0.19	T	0.52079	-0.8623	10	0.26408	T	0.33	-17.1321	8.2971	0.31993	0.0:0.7282:0.1295:0.1423	.	368;372;711	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	G	447;368;711;372	ENSP00000351617:A447G;ENSP00000444118:A368G;ENSP00000336861:A711G;ENSP00000353419:A372G	ENSP00000336861:A711G	A	+	2	0	IQCH	65496357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.472000	0.53114	0.276000	0.22118	0.561000	0.74099	GCG		0.443	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		3	23	0	0	0	0.004672	0	3	23				
MYO9A	4649	broad.mit.edu	37	15	72144597	72144597	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:72144597A>G	ENST00000356056.5	-	36	6823	c.6351T>C	c.(6349-6351)gcT>gcC	p.A2117A	MYO9A_ENST00000444904.1_Silent_p.A2098A|MYO9A_ENST00000424560.1_Silent_p.A2188A|MYO9A_ENST00000564571.1_Silent_p.A2117A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2117	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACACTCTCAGCATCTATTT	0.353																																							uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6349-6351)GCT>GCC		myosin IXA							71.0	67.0	68.0					15																	72144597		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72144597A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6351T>C	15.37:g.72144597A>G						MYO9A_uc002atj.2_Silent_p.A30A|MYO9A_uc002atk.2_Silent_p.A912A	p.A2117A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			36	6824	-			2117			Phorbol-ester/DAG-type 2.|Tail.|Rho-GAP.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.6351T>C	CCDS10239.1																																																																																				0.353	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		4	29	0	0	0	0.009096	0	4	29				
BCL2A1	597	broad.mit.edu	37	15	80263323	80263323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:80263323C>A	ENST00000267953.3	-	1	465	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	BCL2A1_ENST00000335661.6_Nonsense_Mutation_p.E47*	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	47					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTTTCCACTTCTTTTTGGACT	0.438																																							uc002bfc.3		NA																	0				pancreas(1)	1						c.(139-141)GAA>TAA		BCL2-related protein A1 isoform 1							153.0	139.0	143.0					15																	80263323		2203	4300	6503	SO:0001587	stop_gained	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263323C>A		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.139G>T	15.37:g.80263323C>A	ENSP00000267953:p.Glu47*					BCL2A1_uc002bfd.3_Nonsense_Mutation_p.E47*	p.E47*	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			1	321	-			47					Q6FGZ4|Q6FH19|Q86W13|Q99524	Nonsense_Mutation	SNP	ENST00000267953.3	37	c.139G>T	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	37	6.443802	0.97572	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	.	.	.	5.63	2.66	0.31614	.	0.476525	0.21148	N	0.079368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-10.6617	10.3422	0.43884	0.0:0.5186:0.409:0.0725	.	.	.	.	X	47	.	ENSP00000267953:E47X	E	-	1	0	BCL2A1	78050378	0.853000	0.29707	0.002000	0.10522	0.059000	0.15707	1.352000	0.34033	0.298000	0.22638	0.655000	0.94253	GAA		0.438	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		20	67	1	0	1.56452e-12	0.007413	1.97014e-12	20	67				
LINS	55180	broad.mit.edu	37	15	101114125	101114125	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:101114125C>A	ENST00000314742.8	-	5	1175	c.953G>T	c.(952-954)gGa>gTa	p.G318V	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.G318V|LINS_ENST00000560133.1_Missense_Mutation_p.G199V	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	318										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGGCACAGATCCACGACAGAG	0.463																																							uc002bwe.2		NA																	0					0						c.(952-954)GGA>GTA		lines homolog 1							118.0	104.0	109.0					15																	101114125		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101114125C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.953G>T	15.37:g.101114125C>A	ENSP00000318423:p.Gly318Val					LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.G318V|LINS1_uc002bwg.2_Missense_Mutation_p.G318V|LINS1_uc002bwh.2_Missense_Mutation_p.G318V|LINS1_uc010usa.1_Missense_Mutation_p.G199V|LINS1_uc002bwi.2_Missense_Mutation_p.G318V	p.G318V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		6	1244	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		318					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.953G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724286	0.15439	.	.	ENSG00000140471	ENST00000314742	T	0.27104	1.69	6.07	-1.34	0.09143	.	0.720407	0.13823	N	0.360266	T	0.23133	0.0559	L	0.44542	1.39	0.09310	N	0.999992	P;D;B	0.56746	0.775;0.977;0.441	B;P;B	0.51016	0.207;0.656;0.198	T	0.12142	-1.0559	10	0.37606	T	0.19	-4.391	3.5802	0.07949	0.1554:0.4136:0.2959:0.1351	.	199;318;318	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	V	318	ENSP00000318423:G318V	ENSP00000318423:G318V	G	-	2	0	LINS	98931648	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.178000	0.16820	0.111000	0.17947	0.655000	0.94253	GGA		0.463	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		43	62	1	0	6.57855e-14	0.009718	8.52981e-14	43	62				
ACSM5	54988	broad.mit.edu	37	16	20422953	20422953	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:20422953G>T	ENST00000331849.4	+	2	294	c.147G>T	c.(145-147)gtG>gtT	p.V49V	ACSM5_ENST00000575584.1_Silent_p.V49V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	49					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGCAGCTGGTGCCTGAGTACT	0.577																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(145-147)GTG>GTT		acyl-CoA synthetase medium-chain family member 5							111.0	91.0	98.0					16																	20422953		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20422953G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.147G>T	16.37:g.20422953G>T						ACSM5_uc002dhd.1_Silent_p.V49V	p.V49V	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			2	294	+			49					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.147G>T	CCDS10585.1																																																																																				0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		15	30	1	0	4.93089e-13	0.00245	6.31319e-13	15	30				
UBFD1	56061	broad.mit.edu	37	16	23581814	23581814	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:23581814G>T	ENST00000395878.3	+	7	1214	c.833G>T	c.(832-834)gGc>gTc	p.G278V	CTD-2196E14.6_ENST00000568262.2_RNA|UBFD1_ENST00000567212.1_Missense_Mutation_p.G269V|UBFD1_ENST00000219638.4_Missense_Mutation_p.G502V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	278							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TTTCAGTTGGGCCCCACGGAA	0.507																																					Melanoma(22;290 1069 22358 48158)	Melanoma(22;290 1069 22358 48158)	uc002dlv.2		NA																	0					0						c.(832-834)GGC>GTC		ubiquitin-binding protein homolog							118.0	112.0	114.0					16																	23581814		1845	4092	5937	SO:0001583	missense	56061							g.chr16:23581814G>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.833G>T	16.37:g.23581814G>T	ENSP00000379217:p.Gly278Val						p.G278V	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	7	1035	+			278					A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.833G>T	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109019	0.77096	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.86178	2.8	0.80722	D	1	D	0.57899	0.981	P	0.61275	0.886	D	0.85563	0.1229	9	0.87932	D	0	-7.1189	18.2402	0.89965	0.0:0.0:1.0:0.0	.	278	O14562	UBFD1_HUMAN	V	502;278;155	.	ENSP00000219638:G502V	G	+	2	0	UBFD1	23489315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.557000	0.86248	0.655000	0.94253	GGC		0.507	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		36	72	1	0	9.73076e-26	0.006999	1.36588e-25	36	72				
SLC6A2	6530	broad.mit.edu	37	16	55705996	55705996	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:55705996T>A	ENST00000379906.2	+	3	808	c.553T>A	c.(553-555)Tgt>Agt	p.C185S	SLC6A2_ENST00000219833.8_Missense_Mutation_p.C185S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.C185S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C80S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	185					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGCCCCAACTGTACCGACCC	0.557																																							uc002eif.2		NA																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(553-555)TGT>AGT		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						156.0	115.0	129.0					16																	55705996		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55705996T>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.553T>A	16.37:g.55705996T>A	ENSP00000369237:p.Cys185Ser					SLC6A2_uc010ccd.2_Missense_Mutation_p.C185S|SLC6A2_uc002eig.2_Missense_Mutation_p.C185S|SLC6A2_uc002eih.2_Missense_Mutation_p.C185S|SLC6A2_uc002eii.2_Missense_Mutation_p.C80S	p.C185S	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	4	664	+			185			Extracellular (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.553T>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069006	0.55539	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	D;D;D	0.84298	-1.83;-1.83;-1.83	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96197	0.9142	10	0.87932	D	0	.	16.1538	0.81644	0.0:0.0:0.0:1.0	.	185;80;185	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	S	185	ENSP00000394956:C185S;ENSP00000369237:C185S;ENSP00000219833:C185S	ENSP00000219833:C185S	C	+	1	0	SLC6A2	54263497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.213000	0.71641	0.528000	0.53228	TGT		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			44	38	0	0	0	0.01441	0	44	38				
GNAO1	2775	broad.mit.edu	37	16	56377861	56377861	+	Intron	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:56377861G>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Nonstop_Mutation_p.*355L	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GGACTCTACTGAGCCCAGCCG	0.627																																							uc002eit.3		NA																	0				lung(1)|breast(1)	2						c.(1063-1065)TGA>TTA		guanine nucleotide binding protein, alpha							85.0	66.0	72.0					16																	56377861		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377861G>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7089G>T	16.37:g.56377861G>T						GNAO1_uc002eiu.3_Intron	p.*355L	NM_138736	NP_620073	P09471	GNAO_HUMAN			8	1961	+		all_neural(199;0.159)	355					P29777|Q8TD72|Q9UMV4	Nonstop_Mutation	SNP	ENST00000262493.6	37	c.1064G>T	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951567	0.34471	.	.	ENSG00000087258	ENST00000262494	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8177	0.35007	0.1685:0.0:0.8315:0.0	.	.	.	.	L	355	.	.	X	+	2	2	GNAO1	54935362	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.774000	0.47694	2.278000	0.76064	0.561000	0.74099	TGA		0.627	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		15	50	1	0	0.000422831	0.004007	0.000455586	15	50				
CFAP20	29105	broad.mit.edu	37	16	58148723	58148723	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:58148723G>A	ENST00000262498.3	-	5	901	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'Flank	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTTGCCTTGTTCTGAACTG	0.517																																					Pancreas(103;1212 1612 18629 30162 52390)	Pancreas(103;1212 1612 18629 30162 52390)	uc002enb.1		NA																	0					0						c.(565-567)AAC>AAT		transcription factor IIB							128.0	121.0	123.0					16																	58148723		2198	4300	6498	SO:0001819	synonymous_variant	29105				multicellular organismal development			g.chr16:58148723G>A																												ENST00000262498.3:c.567C>T	16.37:g.58148723G>A							p.N189N	NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN			5	844	-			189						Silent	SNP	ENST00000262498.3	37	c.567C>T	CCDS10793.1																																																																																				0.517	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			11	63	0	0	0	0.010729	0	11	63				
CDH5	1003	broad.mit.edu	37	16	66423424	66423424	+	Splice_Site	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:66423424G>T	ENST00000341529.3	+	5	928	c.780G>T	c.(778-780)caG>caT	p.Q260H	CDH5_ENST00000563425.2_Splice_Site_p.Q260H	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCTTCACCCAGAGTGAGCCCC	0.602																																							uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(778-780)CAG>CAT		cadherin 5, type 2 preproprotein							43.0	44.0	44.0					16																	66423424		2202	4300	6502	SO:0001630	splice_region_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66423424G>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.781+1G>T	16.37:g.66423424G>T						CDH5_uc002eon.1_Missense_Mutation_p.Q260H	p.Q260H	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	5	936	+		Ovarian(137;0.0955)	260			Cadherin 3.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.780G>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603022	0.46423	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.39592	1.07	5.69	2.29	0.28610	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.32255	0.0823	L	0.52011	1.625	0.80722	D	1	B	0.24618	0.107	B	0.23419	0.046	T	0.17837	-1.0356	9	0.51188	T	0.08	.	4.0837	0.09937	0.3887:0.187:0.4244:0.0	.	260	P33151	CADH5_HUMAN	H	260	ENSP00000344115:Q260H	ENSP00000344115:Q260H	Q	+	3	2	CDH5	64980925	0.161000	0.22892	0.915000	0.36163	0.997000	0.91878	0.886000	0.28241	0.741000	0.32674	0.655000	0.94253	CAG		0.602	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Missense_Mutation	31	38	1	0	1.62565e-12	0.012213	2.03872e-12	31	38				
CTCF	10664	broad.mit.edu	37	16	67662384	67662384	+	Missense_Mutation	SNP	C	C	T	rs112926498		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:67662384C>T	ENST00000264010.4	+	9	2074	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	CTCF_ENST00000401394.1_Missense_Mutation_p.R216C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	544					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCACTTCAAGCGCTATCACGA	0.537																																					Colon(175;1200 1966 6945 23069 27405)	Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1630-1632)CGC>TGC		CCCTC-binding factor							219.0	185.0	196.0					16																	67662384		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662384C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1630C>T	16.37:g.67662384C>T	ENSP00000264010:p.Arg544Cys					CTCF_uc010cek.2_Missense_Mutation_p.R216C|CTCF_uc002etm.1_Missense_Mutation_p.R33C	p.R544C	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1920	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	544			C2H2-type 10.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1630C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869064	0.91587	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.10477	2.87;2.89	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.30135	0.0755	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.75020	0.893;0.985	T	0.00409	-1.1757	10	0.87932	D	0	-2.7625	14.3466	0.66668	0.1482:0.8518:0.0:0.0	.	216;544	B5MC38;P49711	.;CTCF_HUMAN	C	544;216	ENSP00000264010:R544C;ENSP00000384707:R216C	ENSP00000264010:R544C	R	+	1	0	CTCF	66219885	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.806000	0.62569	2.702000	0.92279	0.462000	0.41574	CGC		0.537	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		49	78	0	0	0	0.01441	0	49	78				
AARS	16	broad.mit.edu	37	16	70291981	70291981	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:70291981G>C	ENST00000261772.8	-	15	2275	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		AGCAGGCCCAGAGGGGTCATC	0.587																																							uc002eyn.1		NA																	0				pancreas(1)	1						c.(2131-2133)TCT>TGT		alanyl-tRNA synthetase	L-Alanine(DB00160)						51.0	49.0	50.0					16																	70291981		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70291981G>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2132C>G	16.37:g.70291981G>C	ENSP00000261772:p.Ser711Cys					AARS_uc010vlu.1_Missense_Mutation_p.S541C	p.S711C	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	15	2242	-		Ovarian(137;0.0365)	711						Missense_Mutation	SNP	ENST00000261772.8	37	c.2132C>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.085970	0.36758	.	.	ENSG00000090861	ENST00000261772	T	0.65549	-0.16	5.91	3.94	0.45596	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.450942	0.28042	N	0.016825	T	0.69931	0.3166	L	0.59436	1.845	0.09310	N	1	B;P	0.48640	0.0;0.913	B;P	0.58520	0.002;0.84	T	0.61252	-0.7100	10	0.52906	T	0.07	-5.5298	10.1348	0.42699	0.0751:0.1371:0.7878:0.0	.	719;711	E7ETK8;P49588	.;SYAC_HUMAN	C	711	ENSP00000261772:S711C	ENSP00000261772:S711C	S	-	2	0	AARS	68849482	1.000000	0.71417	0.519000	0.27824	0.733000	0.41908	5.866000	0.69590	0.823000	0.34589	0.655000	0.94253	TCT		0.587	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		4	23	0	0	0	0.009096	0	4	23				
ZFHX3	463	broad.mit.edu	37	16	72993137	72993137	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:72993137T>C	ENST00000268489.5	-	2	1580	c.908A>G	c.(907-909)cAt>cGt	p.H303R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	303					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGATGGTCATGCACCGCGTG	0.502																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(907-909)CAT>CGT		zinc finger homeobox 3 isoform A							88.0	78.0	82.0					16																	72993137		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993137T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.908A>G	16.37:g.72993137T>C	ENSP00000268489:p.His303Arg					ZFHX3_uc002fcl.2_Intron	p.H303R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1581	-		Ovarian(137;0.13)	303			C2H2-type 1.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.908A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706606	0.30232	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000105	T	0.81908	0.4922	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.80663	-0.1282	10	0.33940	T	0.23	.	14.1268	0.65225	0.0:0.0:0.0:1.0	.	303	Q15911	ZFHX3_HUMAN	R	303	ENSP00000268489:H303R	ENSP00000268489:H303R	H	-	2	0	ZFHX3	71550638	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.606000	0.82863	1.814000	0.52955	0.402000	0.26972	CAT		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	52	0	0	0	0.00245	0	13	52				
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T	rs202038528		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:78064472G>T	ENST00000575655.1	+	3	409	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Nonsense_Mutation_p.E119*|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478																																							uc002ffh.3		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		upper_aerodigestive_tract(1)|lung(1)		0						c.(328-330)GAA>TAA		C-type lectin domain family 3 member A							79.0	71.0	73.0					16																	78064472		2198	4300	6498	SO:0001587	stop_gained	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064472G>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.328G>T	16.37:g.78064472G>T	ENSP00000460682:p.Glu110*						p.E110*	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	409	+			110			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Nonsense_Mutation	SNP	ENST00000575655.1	37	c.328G>T		.	.	.	.	.	.	.	.	.	.	G	35	5.591332	0.96590	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.4051	19.9381	0.97149	0.0:0.0:1.0:0.0	.	.	.	.	X	110	.	ENSP00000299642:E110X	E	+	1	0	CLEC3A	76621973	1.000000	0.71417	0.770000	0.31555	0.804000	0.45430	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	GAA		0.478	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		15	58	1	0	2.32078e-09	0.003163	2.77406e-09	15	58				
PLCG2	5336	broad.mit.edu	37	16	81904518	81904518	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:81904518T>A	ENST00000359376.3	+	7	840	c.626T>A	c.(625-627)cTt>cAt	p.L209H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	209					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATAAAAAACTTATGTTTGAA	0.348																																							uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(625-627)CTT>CAT		phospholipase C, gamma 2							89.0	89.0	89.0					16																	81904518		1835	4095	5930	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81904518T>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.626T>A	16.37:g.81904518T>A	ENSP00000352336:p.Leu209His					PLCG2_uc010chg.1_Missense_Mutation_p.L209H	p.L209H	NM_002661	NP_002652	P16885	PLCG2_HUMAN			7	778	+			209					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.626T>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218629	0.58560	.	.	ENSG00000197943	ENST00000359376	T	0.36878	1.23	5.48	5.48	0.80851	.	0.216153	0.40469	N	0.001098	T	0.55194	0.1905	M	0.72353	2.195	0.33581	D	0.599895	D;D	0.63880	0.993;0.986	P;P	0.61003	0.882;0.733	T	0.71045	-0.4706	10	0.87932	D	0	.	13.0962	0.59192	0.0:0.0:0.0:1.0	.	76;209	B4E3H3;P16885	.;PLCG2_HUMAN	H	209	ENSP00000352336:L209H	ENSP00000352336:L209H	L	+	2	0	PLCG2	80462019	0.973000	0.33851	0.972000	0.41901	0.494000	0.33585	5.506000	0.66993	2.076000	0.62316	0.460000	0.39030	CTT		0.348	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			7	18	0	0	0	0.00308	0	7	18				
TLDC1	57707	broad.mit.edu	37	16	84513594	84513594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:84513594C>A	ENST00000343629.6	-	8	1478	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	TLDC1_ENST00000535580.1_Missense_Mutation_p.E405D	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	432						lysosomal membrane (GO:0005765)											GGGCCTGGGCCTCAGGGTCCG	0.617																																							uc002fib.2		NA																	0				ovary(2)	2						c.(1294-1296)GAG>GAT		hypothetical protein LOC57707							52.0	45.0	47.0					16																	84513594		2200	4300	6500	SO:0001583	missense	57707						protein binding	g.chr16:84513594C>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1296G>T	16.37:g.84513594C>A	ENSP00000343635:p.Glu432Asp					KIAA1609_uc010vod.1_Missense_Mutation_p.E405D|KIAA1609_uc002fic.2_RNA	p.E432D	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			8	1403	-			432					Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.1296G>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058923	0.19987	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	T;T	0.13778	2.74;2.56	4.75	0.547	0.17202	.	0.144218	0.64402	D	0.000010	T	0.12561	0.0305	L	0.56340	1.77	0.58432	D	0.999999	P;B	0.40211	0.707;0.158	B;B	0.36244	0.22;0.082	T	0.05099	-1.0906	10	0.48119	T	0.1	-32.1311	11.2671	0.49116	0.0:0.7105:0.0:0.2895	.	405;432	F5GWS3;Q6P9B6	.;K1609_HUMAN	D	432;100;405	ENSP00000343635:E432D;ENSP00000441997:E405D	ENSP00000343635:E432D	E	-	3	2	KIAA1609	83071095	1.000000	0.71417	0.062000	0.19696	0.082000	0.17680	1.216000	0.32443	-0.165000	0.10908	-0.797000	0.03246	GAG		0.617	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		11	17	1	0	1.5842e-08	0.001855	1.87168e-08	11	17				
CDK10	8558	broad.mit.edu	37	16	89761706	89761706	+	Missense_Mutation	SNP	C	C	T	rs151021544		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:89761706C>T	ENST00000353379.7	+	12	981	c.938C>T	c.(937-939)aCg>aTg	p.T313M	CDK10_ENST00000505473.1_Missense_Mutation_p.T242M|CDK10_ENST00000331006.8_Missense_Mutation_p.T266M	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TCCAGGGCGACGGCCGGGGAC	0.607																																							uc010cio.2		NA																	0				ovary(1)	1						c.(937-939)ACG>ATG		cyclin-dependent kinase 10 isoform a			MET/THR,MET/THR,MET/THR,MET/THR	0,4396		0,0,2198	76.0	76.0	76.0		707,725,725,938	4.6	0.0	16	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	81,81,81,81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	236/284,242/290,242/273,313/361	89761706	1,12995	2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89761706C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.938C>T	16.37:g.89761706C>T	ENSP00000338673:p.Thr313Met					CDK10_uc002fod.2_Missense_Mutation_p.T242M|CDK10_uc002foe.2_Missense_Mutation_p.T242M|CDK10_uc002fof.2_Missense_Mutation_p.T236M|CDK10_uc002fog.3_Missense_Mutation_p.T242M|CDK10_uc002foh.3_Missense_Mutation_p.T242M|CDK10_uc002foi.2_RNA	p.T313M	NM_052988	NP_443714	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	12	981	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	313			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.938C>T	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244746	0.59103	0.0	1.16E-4	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.53206	0.63;0.63;0.63	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	H	0.98542	4.26	0.27185	N	0.960557	P;P;D	0.54772	0.711;0.778;0.968	B;P;B	0.44772	0.44;0.46;0.374	T	0.72896	-0.4153	10	0.66056	D	0.02	-11.1408	9.0552	0.36401	0.0:0.8415:0.0:0.1585	.	313;236;242	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	M	266;284;242;313	ENSP00000329957:T266M;ENSP00000424415:T242M;ENSP00000338673:T313M	ENSP00000329957:T266M	T	+	2	0	CDK10	88289207	1.000000	0.71417	0.020000	0.16555	0.012000	0.07955	5.270000	0.65547	2.077000	0.62373	0.552000	0.68991	ACG		0.607	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			15	72	0	0	0	0.007413	0	15	72				
MYO18A	399687	broad.mit.edu	37	17	27448136	27448136	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:27448136G>A	ENST00000527372.1	-	6	1645	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	MYO18A_ENST00000531253.1_Missense_Mutation_p.R489C|MYO18A_ENST00000533112.1_Missense_Mutation_p.R489C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R489C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	489	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGATCCTGACGGCTCATCAGC	0.602																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(1465-1467)CGT>TGT		myosin 18A isoform a							48.0	50.0	49.0					17																	27448136		2140	4247	6387	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448136G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1465C>T	17.37:g.27448136G>A	ENSP00000437073:p.Arg489Cys					MYO18A_uc010wbc.1_Missense_Mutation_p.R31C|MYO18A_uc002hds.2_Missense_Mutation_p.R31C|MYO18A_uc010csa.1_Missense_Mutation_p.R489C|MYO18A_uc002hdu.1_Missense_Mutation_p.R489C|MYO18A_uc010wbd.1_Missense_Mutation_p.R158C	p.R489C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1623	-			489			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1465C>T	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.398477|5.398477	0.96030|0.96030	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000528564|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428;ENST00000531686	.|T;T;T;T	.|0.73363	.|-0.74;-0.74;-0.74;-0.74	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Myosin head, motor domain (2);	.|0.098571	.|0.64402	.|D	.|0.000001	D|D	0.89139|0.89139	0.6630|0.6630	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999;1.0	.|D;D;D;D;D	.|0.87578	.|0.993;0.998;0.917;0.917;0.967	D|D	0.90310|0.90310	0.4336|0.4336	5|10	.|0.87932	.|D	.|0	.|.	19.6799|19.6799	0.95958|0.95958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;101;489;489;489	.|Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.|.;.;.;.;MY18A_HUMAN	L|C	194|489;489;489;489;489;101;169	.|ENSP00000346291:R489C;ENSP00000435932:R489C;ENSP00000434228:R489C;ENSP00000437073:R489C	.|ENSP00000346291:R489C	P|R	-|-	2|1	0|0	MYO18A|MYO18A	24472262|24472262	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.947000|0.947000	0.59692|0.59692	9.443000|9.443000	0.97568|0.97568	2.743000|2.743000	0.94032|0.94032	0.561000|0.561000	0.74099|0.74099	CCG|CGT		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		4	11	0	0	0	0.009096	0	4	11				
COL1A1	1277	broad.mit.edu	37	17	48271518	48271518	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:48271518A>G	ENST00000225964.5	-	24	1759	c.1641T>C	c.(1639-1641)ccT>ccC	p.P547P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	547	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CATCAGGACCAGGGCTGCCAG	0.607			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(1639-1641)CCT>CCC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						52.0	63.0	59.0					17																	48271518		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271518A>G	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1641T>C	17.37:g.48271518A>G							p.P547P	NM_000088	NP_000079	P02452	CO1A1_HUMAN			24	1767	-			547			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1641T>C	CCDS11561.1																																																																																				0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			3	85	0	0	0	0.004672	0	3	85				
SEC14L1	6397	broad.mit.edu	37	17	75208083	75208083	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:75208083G>T	ENST00000413679.2	+	15	1966	c.1663G>T	c.(1663-1665)Gtg>Ttg	p.V555L	SEC14L1_ENST00000585618.1_Missense_Mutation_p.V555L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V521L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V521L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V555L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	555	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGATTTCGACGTGTGCAAAGG	0.537																																							uc002jto.2		NA																	0				ovary(2)	2						c.(1663-1665)GTG>TTG		SEC14 (S. cerevisiae)-like 1 isoform a							222.0	225.0	224.0					17																	75208083		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208083G>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1663G>T	17.37:g.75208083G>T	ENSP00000394716:p.Val555Leu					SEC14L1_uc010dhc.2_Missense_Mutation_p.V555L|SEC14L1_uc010wth.1_Missense_Mutation_p.V555L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V555L|SEC14L1_uc010wti.1_Missense_Mutation_p.V521L|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	p.V555L	NM_003003	NP_002994	Q92503	S14L1_HUMAN			15	1930	+			555			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1663G>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961537	0.92791	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.19	5.19	0.71726	GOLD (2);	0.137769	0.56097	D	0.000025	T	0.54711	0.1875	M	0.70595	2.14	0.80722	D	1	P;P	0.49696	0.927;0.881	P;B	0.49301	0.606;0.401	T	0.60459	-0.7259	10	0.66056	D	0.02	-41.9133	18.055	0.89362	0.0:0.0:1.0:0.0	.	555;555	Q92503-2;Q92503	.;S14L1_HUMAN	L	555;555;555;555;555;521	ENSP00000376268:V555L;ENSP00000406030:V555L;ENSP00000390392:V555L;ENSP00000408169:V555L;ENSP00000394716:V555L;ENSP00000389838:V521L	ENSP00000376268:V555L	V	+	1	0	SEC14L1	72719678	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.465000	0.80898	2.570000	0.86706	0.655000	0.94253	GTG		0.537	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		79	282	1	0	1.07363e-35	0.01441	1.57947e-35	79	282				
RNF213	57674	broad.mit.edu	37	17	78286894	78286894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:78286894G>A	ENST00000582970.1	+	15	2881	c.2738G>A	c.(2737-2739)tGg>tAg	p.W913*	RNF213_ENST00000319921.4_Nonsense_Mutation_p.W913*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.W913*|CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000508628.2_Nonsense_Mutation_p.W962*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	913					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)			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)			ACGAAAAGGTGGCTCCGAGAA	0.468																																							uc002jyf.2		NA																	0					NA						c.(2737-2739)TGG>TAG		hypothetical protein LOC57714							115.0	111.0	112.0					17																	78286894		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:78286894G>A	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.2738G>A	17.37:g.78286894G>A	ENSP00000464087:p.Trp913*					uc002jyg.1_Nonsense_Mutation_p.W644*	p.W913*	NM_020954	NP_066005					15	2881	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.2738G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	38	6.843143	0.97881	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	2.57	2.57	0.30868	.	0.000000	0.50627	U	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9933	8.8145	0.34987	0.0:0.0:1.0:0.0	.	.	.	.	X	913;962;913;913	.	ENSP00000324392:W913X	W	+	2	0	RNF213	75901489	0.999000	0.42202	0.728000	0.30774	0.022000	0.10575	2.932000	0.48940	1.751000	0.51876	0.563000	0.77884	TGG		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		33	107	0	0	0	0.012213	0	33	107				
LAMA1	284217	broad.mit.edu	37	18	7040152	7040152	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:7040152G>A	ENST00000389658.3	-	10	1438	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	449	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P449S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACACAGGTCGGGTAATCCTTA	0.527																																							uc002knm.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1345-1347)CCG>TCG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	120.0	124.0					18																	7040152		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7040152G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1345C>T	18.37:g.7040152G>A	ENSP00000374309:p.Pro449Ser					LAMA1_uc010wzj.1_5'UTR	p.P449S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			10	1439	-		Colorectal(10;0.172)	449			Laminin EGF-like 3.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1345C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593144	0.86953	.	.	ENSG00000101680	ENST00000389658	T	0.61742	0.08	5.32	5.32	0.75619	EGF-like, laminin (4);	0.118515	0.56097	D	0.000021	T	0.72486	0.3466	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.67518	-0.5650	10	0.30854	T	0.27	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	449	P25391	LAMA1_HUMAN	S	449	ENSP00000374309:P449S	ENSP00000374309:P449S	P	-	1	0	LAMA1	7030152	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	9.347000	0.97059	2.775000	0.95449	0.655000	0.94253	CCG		0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		33	23	0	0	0	0.012213	0	33	23				
ANKRD12	23253	broad.mit.edu	37	18	9257097	9257097	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:9257097G>T	ENST00000262126.4	+	9	4072	c.3832G>T	c.(3832-3834)Gca>Tca	p.A1278S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1255S|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.A1255S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1278						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACCACCATATGCAAACAGACT	0.433																																							uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3832-3834)GCA>TCA		ankyrin repeat domain 12 isoform 1							75.0	74.0	74.0					18																	9257097		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9257097G>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3832G>T	18.37:g.9257097G>T	ENSP00000262126:p.Ala1278Ser					ANKRD12_uc002knw.2_Missense_Mutation_p.A1255S|ANKRD12_uc002knx.2_Missense_Mutation_p.A1255S|ANKRD12_uc010dkx.1_Missense_Mutation_p.A985S	p.A1278S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	4089	+			1278					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.3832G>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608534	0.28623	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.66280	-0.19;-0.2	5.75	1.68	0.24146	.	0.256197	0.39615	N	0.001313	T	0.52158	0.1717	L	0.59436	1.845	0.27171	N	0.960901	B;B	0.12013	0.005;0.003	B;B	0.17979	0.02;0.009	T	0.44205	-0.9343	10	0.39692	T	0.17	-17.7103	6.1634	0.20376	0.4149:0.0:0.4645:0.1206	.	1255;1278	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	S	1255;1278	ENSP00000372932:A1255S;ENSP00000262126:A1278S	ENSP00000262126:A1278S	A	+	1	0	ANKRD12	9247097	0.974000	0.33945	0.794000	0.32065	0.971000	0.66376	0.137000	0.15995	0.005000	0.14708	0.655000	0.94253	GCA		0.433	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		43	72	1	0	1.32136e-16	0.00874	1.76565e-16	43	72				
CIDEA	1149	broad.mit.edu	37	18	12262951	12262951	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:12262951C>A	ENST00000320477.9	+	2	231	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	56	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AAGCAGCCTGCAGGAGCTCAT	0.637																																							uc002kqt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(166-168)CAG>AAG		cell death-inducing DFFA-like effector a isoform							39.0	38.0	38.0					18																	12262951		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262951C>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.166C>A	18.37:g.12262951C>A	ENSP00000320209:p.Gln56Lys					CIDEA_uc002kqu.3_Missense_Mutation_p.Q90K|CIDEA_uc010dlc.2_RNA	p.Q56K	NM_001279	NP_001270	O60543	CIDEA_HUMAN			2	231	+			56			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.166C>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	0.906	-0.720755	0.03182	.	.	ENSG00000176194	ENST00000320477	T	0.41065	1.01	5.31	-3.65	0.04502	Caspase-activated nuclease CIDE-N (3);	0.798663	0.11574	N	0.550428	T	0.18676	0.0448	N	0.04820	-0.15	0.19575	N	0.999968	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.30621	-0.9972	10	0.13108	T	0.6	-3.5286	12.999	0.58664	0.2222:0.6508:0.127:0.0	.	90;56	Q8N5P9;O60543	.;CIDEA_HUMAN	K	56	ENSP00000320209:Q56K	ENSP00000320209:Q56K	Q	+	1	0	CIDEA	12252951	0.960000	0.32886	0.077000	0.20336	0.480000	0.33159	0.050000	0.14120	-1.027000	0.03325	-1.113000	0.02065	CAG		0.637	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		8	37	1	0	1.06961e-07	0.00308	1.24449e-07	8	37				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																							uc010dln.2		NA																	12	Substitution - Missense(12)		endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	skin(3)	3						c.(1429-1431)CGG>CAG		ANKRD26-like family B, member 2							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.1_RNA	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	64	0	0	0	0.000602	0	4	64				
CABLES1	91768	broad.mit.edu	37	18	20716393	20716393	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:20716393G>A	ENST00000256925.7	+	1	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	223	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCCGGCGGCCGCCTTTTTGGG	0.692																																							uc002kuc.2		NA																	0				breast(1)	1						c.(667-669)GCC>ACC		Cdk5 and Abl enzyme substrate 1 isoform 2							11.0	16.0	14.0					18																	20716393		1870	4100	5970	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716393G>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.667G>A	18.37:g.20716393G>A	ENSP00000256925:p.Ala223Thr					CABLES1_uc002kub.2_Intron	p.A223T	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			1	667	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		223			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.667G>A	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923426	0.52653	.	.	ENSG00000134508	ENST00000256925	T	0.45276	0.9	3.54	1.66	0.24008	.	0.513432	0.19912	N	0.103268	T	0.20820	0.0501	N	0.22421	0.69	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.05649	-1.0872	10	0.09843	T	0.71	-22.0039	4.6835	0.12747	0.3096:0.0:0.6904:0.0	.	223	Q8TDN4	CABL1_HUMAN	T	223	ENSP00000256925:A223T	ENSP00000256925:A223T	A	+	1	0	CABLES1	18970391	0.924000	0.31332	0.933000	0.37362	0.760000	0.43138	0.761000	0.26489	0.805000	0.34159	0.456000	0.33151	GCC		0.692	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		12	10	0	0	0	0.010729	0	12	10				
ZCCHC2	54877	broad.mit.edu	37	18	60217600	60217600	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:60217600C>T	ENST00000269499.5	+	5	1638	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S86L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	407						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAACTGTCTTCAGAGACTTTT	0.398																																							uc002lip.3		NA																	0				lung(1)|prostate(1)	2						c.(1219-1221)TCA>TTA		zinc finger, CCHC domain containing 2							93.0	83.0	86.0					18																	60217600		1863	4093	5956	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60217600C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1220C>T	18.37:g.60217600C>T	ENSP00000269499:p.Ser407Leu					ZCCHC2_uc002lio.2_RNA	p.S407L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			5	1220	+			407					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.1220C>T	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256611	0.59321	.	.	ENSG00000141664	ENST00000269499	T	0.03801	3.8	5.72	5.72	0.89469	Phox homologous domain (2);	0.094954	0.45606	D	0.000355	T	0.13415	0.0325	L	0.53249	1.67	0.35800	D	0.82304	D	0.60575	0.988	P	0.57204	0.815	T	0.01998	-1.1232	10	0.48119	T	0.1	-6.9439	14.2996	0.66336	0.0:0.8511:0.1489:0.0	.	407	Q9C0B9	ZCHC2_HUMAN	L	407	ENSP00000269499:S407L	ENSP00000269499:S407L	S	+	2	0	ZCCHC2	58368580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.313000	0.51935	2.695000	0.91970	0.655000	0.94253	TCA		0.398	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		15	10	0	0	0	0.003163	0	15	10				
CDH7	1005	broad.mit.edu	37	18	63511198	63511198	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:63511198T>A	ENST00000397968.2	+	7	1558	c.1132T>A	c.(1132-1134)Tct>Act	p.S378T	CDH7_ENST00000323011.3_Missense_Mutation_p.S378T|CDH7_ENST00000536984.2_Missense_Mutation_p.S378T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	378	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCCTGTGTTCTCTTCACCCTT	0.493																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1132-1134)TCT>ACT		cadherin 7, type 2 preproprotein							184.0	153.0	163.0					18																	63511198		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511198T>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1132T>A	18.37:g.63511198T>A	ENSP00000381058:p.Ser378Thr					CDH7_uc002lka.2_Missense_Mutation_p.S378T|CDH7_uc002lkb.2_Missense_Mutation_p.S378T	p.S378T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1457	+		Esophageal squamous(42;0.129)	378			Extracellular (Potential).|Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1132T>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	9.822	1.185978	0.21870	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.60920	0.15;0.15;0.15	4.97	3.74	0.42951	Cadherin (2);Cadherin-like (1);	0.391988	0.25341	N	0.031362	T	0.40791	0.1131	L	0.28400	0.85	0.40796	D	0.983295	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.24476	-1.0159	10	0.17369	T	0.5	.	9.4964	0.38991	0.2223:0.0:0.0:0.7777	.	378;378	F5H5X9;Q9ULB5	.;CADH7_HUMAN	T	378	ENSP00000319166:S378T;ENSP00000443030:S378T;ENSP00000381058:S378T	ENSP00000319166:S378T	S	+	1	0	CDH7	61662178	0.990000	0.36364	0.963000	0.40424	0.815000	0.46073	2.154000	0.42291	2.065000	0.61736	0.533000	0.62120	TCT		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		51	42	0	0	0	0.01441	0	51	42				
HMHA1	23526	broad.mit.edu	37	19	1080092	1080092	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1080092G>C	ENST00000313093.2	+	13	1909	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	HMHA1_ENST00000590577.1_Missense_Mutation_p.E195Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.E587Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.E564Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.E443Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.E400Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.E576Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	560					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACGACTTTGAGCCCCACGT	0.687																																							uc002lqz.1		NA																	0				lung(1)	1						c.(1678-1680)GAG>CAG		minor histocompatibility antigen HA-1							45.0	45.0	45.0					19																	1080092		2203	4300	6503	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080092G>C	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1678G>C	19.37:g.1080092G>C	ENSP00000316772:p.Glu560Gln					HMHA1_uc010xgd.1_Missense_Mutation_p.E576Q|HMHA1_uc010xge.1_Missense_Mutation_p.E400Q|HMHA1_uc002lra.1_Missense_Mutation_p.E400Q|HMHA1_uc002lrb.1_Missense_Mutation_p.E443Q|HMHA1_uc002lrc.1_Missense_Mutation_p.E195Q|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.E560Q	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1909	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	560					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1678G>C	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327753	0.24080	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	3.97	3.97	0.46021	.	0.060805	0.64402	U	0.000005	T	0.38665	0.1049	L	0.27975	0.815	0.36815	D	0.886083	P;P;B;P;P	0.45715	0.831;0.865;0.382;0.639;0.647	B;B;B;B;B	0.42555	0.284;0.391;0.091;0.155;0.131	T	0.42032	-0.9475	10	0.33141	T	0.24	-17.9403	9.7646	0.40552	0.0:0.2118:0.7882:0.0	.	400;576;195;443;560	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	576;560;560;400;554;443	ENSP00000439601:E576Q;ENSP00000316772:E560Q;ENSP00000445109:E400Q;ENSP00000438979:E443Q	ENSP00000316772:E560Q	E	+	1	0	HMHA1	1031092	1.000000	0.71417	0.788000	0.31933	0.065000	0.16274	6.761000	0.74945	1.783000	0.52377	0.561000	0.74099	GAG		0.687	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			20	16	0	0	0	0.010504	0	20	16				
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	G	T	rs137853082		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1220699G>T	ENST00000326873.7	+	5	1890	c.717G>T	c.(715-717)tgG>tgT	p.W239C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		W -> C (in PJS; late onset suggests reduced penetrance). {ECO:0000269|PubMed:12372054}.		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.?(2)|p.W239C(1)		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)		TGGACATCTGGTCGGCTGGGG	0.701		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		23	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)	p.0?(19)|p.?(2)	cervix(14)|lung(5)|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	CM022255	STK11	M	rs137853082	c.(715-717)TGG>TGT		serine/threonine protein kinase 11							22.0	28.0	26.0					19																	1220699		1994	4141	6135	SO:0001583	missense	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.chr19:1220699G>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.717G>T	19.37:g.1220699G>T	ENSP00000324856:p.Trp239Cys	TSP Lung(3;<1E-08)					p.W239C	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)	5	1832	+		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)	239		W -> C (in PJS; late onset suggests reduced penetrance).	Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.717G>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725361	0.89298	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90788	-2.73	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99441	1.0938	10	0.87932	D	0	-33.8631	18.5988	0.91240	0.0:0.0:1.0:0.0	.	239	Q15831	STK11_HUMAN	C	239	ENSP00000324856:W239C	ENSP00000324856:W239C	W	+	3	0	STK11	1171699	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.729000	0.98795	2.644000	0.89710	0.561000	0.74099	TGG		0.701	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		15	12	1	0	6.94344e-10	0.006122	8.43132e-10	15	12				
ATP8B3	148229	broad.mit.edu	37	19	1791815	1791815	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1791815G>A	ENST00000310127.6	-	20	2474	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	ATP8B3_ENST00000525591.1_Missense_Mutation_p.P709S|ATP8B3_ENST00000539485.1_Missense_Mutation_p.P756S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	746					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTTTCAGGGACACCGTCC	0.622																																							uc002ltw.2		NA																	0					0						c.(2236-2238)CCT>TCT		ATPase, class I, type 8B, member 3							79.0	78.0	78.0					19																	1791815		2026	4184	6210	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791815G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2236C>T	19.37:g.1791815G>A	ENSP00000311336:p.Pro746Ser					ATP8B3_uc002ltv.2_Missense_Mutation_p.P709S|ATP8B3_uc002ltx.2_RNA	p.P746S	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2470	-		Hepatocellular(1079;0.137)	746			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2236C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551169	0.45383	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.77358	-1.09;-1.09;-1.09	4.46	2.25	0.28309	HAD-like domain (2);	0.176693	0.51477	D	0.000099	D	0.86460	0.5938	M	0.85197	2.74	0.34329	D	0.687451	D;D	0.65815	0.993;0.995	D;D	0.70016	0.911;0.967	D	0.88343	0.2976	10	0.66056	D	0.02	.	8.8439	0.35159	0.1954:0.0:0.8046:0.0	.	746;709	O60423;Q7Z485	AT8B3_HUMAN;.	S	746;756;709	ENSP00000311336:P746S;ENSP00000443574:P756S;ENSP00000437115:P709S	ENSP00000311336:P746S	P	-	1	0	ATP8B3	1742815	1.000000	0.71417	0.001000	0.08648	0.154000	0.21943	6.632000	0.74281	0.296000	0.22592	0.561000	0.74099	CCT		0.622	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		14	12	0	0	0	0.00245	0	14	12				
TSPAN16	26526	broad.mit.edu	37	19	11417396	11417396	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:11417396C>T	ENST00000316737.1	+	5	717	c.567C>T	c.(565-567)gaC>gaT	p.D189D	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Silent_p.D164D|TSPAN16_ENST00000590327.1_Silent_p.D189D	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	189						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTCCTGTGACGGACGCGATG	0.478																																							uc002mqv.1		NA																	0				skin(1)	1						c.(565-567)GAC>GAT		transmembrane 4 superfamily member 16							107.0	89.0	95.0					19																	11417396		2203	4300	6503	SO:0001819	synonymous_variant	26526					integral to membrane		g.chr19:11417396C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.567C>T	19.37:g.11417396C>T						TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA	p.D189D	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			5	717	+			189			Cytoplasmic (Potential).		K7EN22|K7EPD8|Q8N6J7	Silent	SNP	ENST00000316737.1	37	c.567C>T	CCDS12256.1																																																																																				0.478	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		6	23	0	0	0	0.001168	0	6	23				
EMR3	84658	broad.mit.edu	37	19	14755018	14755018	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:14755018T>C	ENST00000253673.5	-	9	1052	c.952A>G	c.(952-954)Agg>Ggg	p.R318G	EMR3_ENST00000599900.1_Missense_Mutation_p.R103G|EMR3_ENST00000443157.2_Missense_Mutation_p.R192G|EMR3_ENST00000344373.4_Missense_Mutation_p.R266G	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	318	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAGCCATCCCTGGACCACTGG	0.517																																							uc002mzi.3		NA																	0				ovary(5)|skin(1)	6						c.(952-954)AGG>GGG		egf-like module-containing mucin-like receptor							107.0	91.0	96.0					19																	14755018		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14755018T>C	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.952A>G	19.37:g.14755018T>C	ENSP00000253673:p.Arg318Gly					EMR3_uc010dzp.2_Missense_Mutation_p.R266G|EMR3_uc010xnv.1_Missense_Mutation_p.R192G	p.R318G	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			9	1100	-			318			Extracellular (Potential).|GPS.			Missense_Mutation	SNP	ENST00000253673.5	37	c.952A>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	t	14.37	2.514375	0.44763	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.69306	-0.39;-0.39;-0.39	3.3	3.3	0.37823	GPS domain (3);	.	.	.	.	T	0.55065	0.1897	L	0.31120	0.905	0.09310	N	1	B;B;B	0.20671	0.047;0.004;0.003	B;B;B	0.29524	0.103;0.004;0.009	T	0.51379	-0.8713	9	0.54805	T	0.06	.	8.3393	0.32235	0.0:0.0:0.0:1.0	.	192;266;318	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	G	192;318;266	ENSP00000396208:R192G;ENSP00000253673:R318G;ENSP00000340758:R266G	ENSP00000253673:R318G	R	-	1	2	EMR3	14616018	0.000000	0.05858	0.383000	0.26132	0.747000	0.42532	-0.646000	0.05403	1.531000	0.49152	0.520000	0.50463	AGG		0.517	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		19	29	0	0	0	0.010504	0	19	29				
KIAA1683	80726	broad.mit.edu	37	19	18368705	18368705	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:18368705C>A	ENST00000600328.3	-	4	3021	c.2828G>T	c.(2827-2829)cGt>cTt	p.R943L	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R1130L|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R897L			Q9H0B3	K1683_HUMAN	KIAA1683	943	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATCCTGCGACGCGCCAGGTA	0.672																																							uc002nin.2		NA																	0				ovary(2)	2						c.(2827-2829)CGT>CTT		KIAA1683 isoform b							43.0	45.0	45.0					19																	18368705		2195	4290	6485	SO:0001583	missense	80726					mitochondrion		g.chr19:18368705C>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2828G>T	19.37:g.18368705C>A	ENSP00000470780:p.Arg943Leu					PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1130L|KIAA1683_uc010xqe.1_Missense_Mutation_p.R897L|KIAA1683_uc010xqf.1_RNA	p.R943L	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3044	-			943			IQ 2.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2828G>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996645	0.74818	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.65549	-0.16;-0.16;-0.16	4.33	4.33	0.51752	.	0.000000	0.32987	N	0.005408	T	0.80934	0.4719	H	0.94264	3.515	0.09310	N	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	T	0.75363	-0.3344	10	0.07813	T	0.8	-24.0318	12.332	0.55046	0.0:1.0:0.0:0.0	.	1130;943	E9PDE0;Q9H0B3	.;K1683_HUMAN	L	1130;943;897;207;557	ENSP00000376213:R1130L;ENSP00000352774:R943L;ENSP00000404501:R897L	ENSP00000352774:R943L	R	-	2	0	KIAA1683	18229705	0.974000	0.33945	0.843000	0.33291	0.078000	0.17371	3.902000	0.56310	1.971000	0.57363	0.313000	0.20887	CGT		0.672	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			23	30	1	0	3.62473e-10	0.012319	4.419e-10	23	30				
GGN	199720	broad.mit.edu	37	19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:38876800C>T	ENST00000334928.6	-	3	1234	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697																																							uc002oij.1		NA																	0					0						c.(1102-1104)GGG>AGG		gametogenetin							25.0	29.0	27.0					19																	38876800		2197	4296	6493	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876800C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1102G>A	19.37:g.38876800C>T	ENSP00000334940:p.Gly368Arg					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G285R	p.G368R	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1237	-	all_cancers(60;3.4e-06)		368			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.1102G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706573	0.48412	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	3.33	0.38152	.	0.207411	0.23943	N	0.043023	T	0.47154	0.1430	L	0.29908	0.895	0.31050	N	0.715271	D;D	0.89917	1.0;1.0	D;D	0.70716	0.949;0.97	T	0.47071	-0.9145	9	0.41790	T	0.15	-7.5517	10.004	0.41946	0.0:1.0:0.0:0.0	.	285;368	Q86UU5-2;Q86UU5	.;GGN_HUMAN	R	368	.	ENSP00000334940:G368R	G	-	1	0	GGN	43568640	0.038000	0.19896	0.838000	0.33150	0.826000	0.46750	2.085000	0.41634	1.679000	0.50963	0.462000	0.41574	GGG		0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		5	5	0	0	0	0.001168	0	5	5				
CD177	57126	broad.mit.edu	37	19	43858435	43858435	+	RNA	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:43858435G>T	ENST00000607517.1	+	0	326				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTGAGCACCGGATGGGCCCCG	0.652																																							uc002owi.2		NA																	0				central_nervous_system(1)	1						c.(268-270)CGG>CGT		CD177 molecule precursor							43.0	55.0	51.0					19																	43858435		2008	4150	6158			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858435G>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858435G>T						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.R90R	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			3	312	+		Prostate(69;0.00682)	90					Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	ENST00000607517.1	37	c.270G>T																																																																																					0.652	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		12	19	1	0	5.16669e-11	0.010729	6.40083e-11	12	19				
KIR3DL1	3811	broad.mit.edu	37	19	55349245	55349245	+	Intron	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:55349245A>G	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGTCCTTGCAGGAACCTACA	0.517																																							uc002qhm.1		NA																	0					0						c.(283-285)GCA>GCG		killer cell immunoglobulin-like receptor, two							355.0	298.0	318.0					19																	55349245		2174	4175	6349	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55349245A>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12712A>G	19.37:g.55349245A>G						KIR2DS4_uc010yfj.1_Silent_p.A88A|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.A95A|KIR2DS4_uc002qhn.1_Silent_p.A42A	p.A95A	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	331	+			95			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000402254.2	37	c.285A>G																																																																																					0.517	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		9	217	0	0	0	0.006214	0	9	217				
PEG3	5178	broad.mit.edu	37	19	57326368	57326368	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57326368G>A	ENST00000326441.9	-	10	3805	c.3442C>T	c.(3442-3444)Cat>Tat	p.H1148Y	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1022Y|PEG3_ENST00000598410.1_Missense_Mutation_p.H1024Y|PEG3_ENST00000423103.2_Missense_Mutation_p.H1148Y|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1148					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)			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)		CTGATGGAATGGGTGTGAATT	0.468																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3442-3444)CAT>TAT		paternally expressed 3 isoform 1							175.0	158.0	164.0					19																	57326368		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326368G>A	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.3442C>T	19.37:g.57326368G>A	ENSP00000326581:p.His1148Tyr					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_Missense_Mutation_p.H1119Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1148Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1024Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1022Y|PEG3_uc010etr.2_Missense_Mutation_p.H1148Y	p.H1148Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3793	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1148					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3442C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237429	0.05944	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02890	4.12;4.12	4.33	2.09	0.27110	.	0.768049	0.11540	N	0.553799	T	0.03783	0.0107	N	0.24115	0.695	.	.	.	B;D;D	0.69078	0.003;0.988;0.997	B;P;P	0.54706	0.002;0.696;0.759	T	0.41466	-0.9507	9	0.46703	T	0.11	-4.5394	2.4594	0.04538	0.2551:0.0:0.5015:0.2434	.	1024;1148;1083	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	1148	ENSP00000326581:H1148Y;ENSP00000403051:H1148Y	ENSP00000326581:H1148Y	H	-	1	0	ZIM2	62018180	0.000000	0.05858	0.002000	0.10522	0.877000	0.50540	-0.406000	0.07187	0.645000	0.30675	0.655000	0.94253	CAT		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			47	69	0	0	0	0.01441	0	47	69				
ZNF304	57343	broad.mit.edu	37	19	57867553	57867553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57867553G>T	ENST00000282286.5	+	3	489	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	ZNF304_ENST00000391705.3_Nonsense_Mutation_p.E106*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.E153*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.E64*			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACCTGGCTGAACACCAGGG	0.493																																							uc010ygw.1		NA																	0				ovary(1)	1						c.(316-318)GAA>TAA		zinc finger protein 304							96.0	87.0	90.0					19																	57867553		2203	4300	6503	SO:0001587	stop_gained	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867553G>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.316G>T	19.37:g.57867553G>T	ENSP00000282286:p.Glu106*					ZNF304_uc010etw.2_Nonsense_Mutation_p.E153*|ZNF304_uc010etx.2_Nonsense_Mutation_p.E64*	p.E106*	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	704	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	106			C2H2-type 1.			Nonsense_Mutation	SNP	ENST00000282286.5	37	c.316G>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208215	0.95033	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	.	.	.	3.53	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.3417	0.04262	0.1101:0.1915:0.5016:0.1967	.	.	.	.	X	106;106;153	.	ENSP00000282286:E106X	E	+	1	0	ZNF304	62559365	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.210000	0.17455	0.476000	0.27440	0.563000	0.77884	GAA		0.493	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			6	30	1	0	3.59834e-05	0.001168	3.96076e-05	6	30				
GREB1	9687	broad.mit.edu	37	2	11733209	11733209	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:11733209C>T	ENST00000381486.2	+	11	1953	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	GREB1_ENST00000234142.5_Silent_p.C551C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	551						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATCATCTGCGCCTGCCGCA	0.662																																					Ovarian(39;850 945 2785 23371 33093)	Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(1651-1653)TGC>TGT		growth regulation by estrogen in breast cancer 1							18.0	20.0	19.0					2																	11733209		2076	4199	6275	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11733209C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1653C>T	2.37:g.11733209C>T						GREB1_uc002rbo.1_Silent_p.C185C	p.C551C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	11	1953	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		551					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.1653C>T	CCDS42655.1																																																																																				0.662	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		8	17	0	0	0	0.006214	0	8	17				
SOCS5	9655	broad.mit.edu	37	2	46986926	46986926	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:46986926C>T	ENST00000306503.5	+	2	1429	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SOCS5_ENST00000394861.2_Silent_p.F419F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	419	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGTGAGCTTCCGCCGCTACA	0.517																																							uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1255-1257)TTC>TTT		suppressor of cytokine signaling 5							84.0	84.0	84.0					2																	46986926		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986926C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1257C>T	2.37:g.46986926C>T						SOCS5_uc010yoe.1_Silent_p.F388F|SOCS5_uc002rvg.2_Silent_p.F419F	p.F419F	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1421	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	419			SH2.		Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.1257C>T	CCDS1830.1																																																																																				0.517	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			34	56	0	0	0	0.012213	0	34	56				
DCTN1	1639	broad.mit.edu	37	2	74589189	74589189	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:74589189G>A	ENST00000361874.3	-	31	4006	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	DCTN1_ENST00000409868.1_Missense_Mutation_p.A1208V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A1091V|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.A143V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A1223V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A1205V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A1188V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A1096V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1230					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTGAGGAAGGCTGATGAAGG	0.602																																							uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(3688-3690)GCC>GTC		dynactin 1 isoform 1							112.0	93.0	100.0					2																	74589189		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74589189G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3689C>T	2.37:g.74589189G>A	ENSP00000354791:p.Ala1230Val					SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Missense_Mutation_p.A164V|DCTN1_uc002skv.2_Missense_Mutation_p.A1096V|DCTN1_uc002sku.2_Missense_Mutation_p.A1091V|DCTN1_uc002skw.1_Missense_Mutation_p.A1206V|DCTN1_uc010ffd.2_Missense_Mutation_p.A1205V|DCTN1_uc002sky.2_Missense_Mutation_p.A1188V	p.A1230V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			31	4000	-			1230					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.3689C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866235	0.51588	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77098	-0.68;-0.88;-0.69;-0.65;-1.07;-0.84;-0.85	5.24	5.24	0.73138	.	0.000000	0.41712	D	0.000831	T	0.59569	0.2203	N	0.08118	0	0.30354	N	0.784537	B;B;B;B;B;B;B	0.26400	0.051;0.085;0.035;0.105;0.148;0.058;0.051	B;B;B;B;B;B;B	0.24394	0.016;0.016;0.018;0.023;0.053;0.04;0.016	T	0.61633	-0.7023	10	0.45353	T	0.12	-5.5285	12.6668	0.56846	0.0:0.0:0.8346:0.1654	.	1205;1188;1230;1223;1096;1091;1213	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	V	1230;1223;1213;1096;1091;1188;1208;1205	ENSP00000354791:A1230V;ENSP00000377571:A1223V;ENSP00000384844:A1096V;ENSP00000387270:A1091V;ENSP00000386406:A1188V;ENSP00000387327:A1208V;ENSP00000386843:A1205V	ENSP00000354791:A1230V	A	-	2	0	DCTN1	74442697	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.159000	0.50731	2.440000	0.82611	0.491000	0.48974	GCC		0.602	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		21	49	0	0	0	0.014323	0	21	49				
ANKRD36B	57730	broad.mit.edu	37	2	98171707	98171707	+	RNA	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:98171707C>A	ENST00000443455.1	-	0	1190							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTGGTTGTTTCTGAGAAGACA	0.289																																							uc010yvc.1		NA																	0					0						c.(1078-1080)CAG>CAT		ankyrin repeat domain 36B							51.0	49.0	50.0					2																	98171707		1814	4065	5879			57730							g.chr2:98171707C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98171707C>A						ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	p.Q360H	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			13	1360	-			360					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37	c.1080G>T																																																																																					0.289	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		13	21	1	0	6.49762e-13	0.006122	8.28446e-13	13	21				
TSGA10	80705	broad.mit.edu	37	2	99685410	99685410	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:99685410G>C	ENST00000393483.3	-	15	2003	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	TSGA10_ENST00000410001.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q387E|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	387					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGAACCTTCTGTTTTATGTCA	0.264																																							uc002szg.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1159-1161)CAG>GAG		testis specific, 10							113.0	123.0	119.0					2																	99685410		2200	4295	6495	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99685410G>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1159C>G	2.37:g.99685410G>C	ENSP00000377123:p.Gln387Glu					TSGA10_uc002szh.3_Missense_Mutation_p.Q387E|TSGA10_uc002szi.3_Missense_Mutation_p.Q387E|TSGA10_uc010fin.1_Missense_Mutation_p.Q387E	p.Q387E	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			13	1787	-			387					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1159C>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.212240	0.01555	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.08;-1.4	4.96	4.04	0.47022	.	0.476775	0.19409	N	0.114982	T	0.57286	0.2043	N	0.08118	0	0.80722	D	1	B	0.18610	0.029	B	0.16289	0.015	T	0.54153	-0.8336	10	0.05436	T	0.98	-10.5128	10.6331	0.45549	0.0:0.0:0.8096:0.1904	.	387	Q9BZW7	TSG10_HUMAN	E	387	ENSP00000377123:Q387E;ENSP00000386956:Q387E;ENSP00000347161:Q387E;ENSP00000444419:Q387E;ENSP00000386508:Q387E;ENSP00000377122:Q387E	ENSP00000347161:Q387E	Q	-	1	0	TSGA10	99051842	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	2.591000	0.46163	2.578000	0.87016	0.650000	0.86243	CAG		0.264	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		19	41	0	0	0	0.00278	0	19	41				
XIRP2	129446	broad.mit.edu	37	2	168104328	168104328	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:168104328G>A	ENST00000409195.1	+	9	6515	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2142K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K1920K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1967	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCATATAAAGAGTCCTAAAA	0.398																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6424-6426)AAG>AAA		xin actin-binding repeat containing 2 isoform 1							47.0	44.0	45.0					2																	168104328		1839	4084	5923	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104328G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6426G>A	2.37:g.168104328G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K1967K|XIRP2_uc010fpq.2_Silent_p.K1920K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR	p.K2142K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6444	+			1967					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6426G>A	CCDS42769.1																																																																																				0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	101	0	0	0	0.001168	0	6	101				
TTN	7273	broad.mit.edu	37	2	179480201	179480201	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:179480201G>C	ENST00000591111.1	-	209	43772	c.43548C>G	c.(43546-43548)gaC>gaG	p.D14516E	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7284E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13589E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16157E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7217E|TTN_ENST00000460472.2_Missense_Mutation_p.D7092E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14516					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTGGTGGGTCAGGTACCG	0.458																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40765-40767)GAC>GAG		titin isoform N2-A							201.0	201.0	201.0					2																	179480201		2007	4176	6183	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480201G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43548C>G	2.37:g.179480201G>C	ENSP00000465570:p.Asp14516Glu					TTN_uc010zfh.1_Missense_Mutation_p.D7284E|TTN_uc010zfi.1_Missense_Mutation_p.D7217E|TTN_uc010zfj.1_Missense_Mutation_p.D7092E	p.D13589E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		208	40991	-			14516					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.40767C>G		.	.	.	.	.	.	.	.	.	.	G	7.558	0.664155	0.14710	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	1.73	0.24493	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51432	0.1674	M	0.82193	2.58	0.40021	D	0.975408	B;B;B;B	0.25048	0.117;0.117;0.117;0.067	B;B;B;B	0.26693	0.072;0.072;0.072;0.072	T	0.52094	-0.8621	9	0.87932	D	0	.	4.9012	0.13775	0.4122:0.0:0.4505:0.1373	.	7092;7217;7284;14516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13589;7092;7284;7217;7092	ENSP00000343764:D13589E;ENSP00000434586:D7092E;ENSP00000340554:D7284E;ENSP00000352154:D7217E	ENSP00000340554:D7284E	D	-	3	2	TTN	179188446	0.997000	0.39634	1.000000	0.80357	0.573000	0.36030	0.430000	0.21428	0.279000	0.22186	-0.182000	0.12963	GAC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		129	175	0	0	0	0.01441	0	129	175				
ZNF804A	91752	broad.mit.edu	37	2	185803031	185803031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:185803031C>G	ENST00000302277.6	+	4	3502	c.2908C>G	c.(2908-2910)Ctt>Gtt	p.L970V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	970							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAATCCTATCTTTGCCATTA	0.388																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2908-2910)CTT>GTT		zinc finger protein 804A							95.0	91.0	92.0					2																	185803031		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803031C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2908C>G	2.37:g.185803031C>G	ENSP00000303252:p.Leu970Val						p.L970V	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3502	+			970					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2908C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	7.932	0.740823	0.15642	.	.	ENSG00000170396	ENST00000302277	T	0.08008	3.14	5.14	0.602	0.17535	.	0.610783	0.14573	N	0.311346	T	0.05364	0.0142	L	0.44542	1.39	0.20638	N	0.99988	P	0.37061	0.58	B	0.25405	0.06	T	0.32929	-0.9888	10	0.49607	T	0.09	-5.5816	4.2422	0.10654	0.3169:0.4965:0.0:0.1866	.	970	Q7Z570	Z804A_HUMAN	V	970	ENSP00000303252:L970V	ENSP00000303252:L970V	L	+	1	0	ZNF804A	185511276	0.114000	0.22134	0.570000	0.28473	0.649000	0.38597	0.306000	0.19279	0.040000	0.15660	0.467000	0.42956	CTT		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		23	152	0	0	0	0.004656	0	23	152				
FAM171B	165215	broad.mit.edu	37	2	187605026	187605026	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:187605026G>A	ENST00000304698.5	+	2	513	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	104						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCAGTTGTAGAAGTGTTTGT	0.383																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(310-312)GAA>AAA		KIAA1946							122.0	105.0	111.0					2																	187605026		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187605026G>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.310G>A	2.37:g.187605026G>A	ENSP00000304108:p.Glu104Lys					FAM171B_uc002upr.1_Missense_Mutation_p.E104K	p.E104K	NM_177454	NP_803237	Q6P995	F171B_HUMAN			2	422	+			104			Extracellular (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.310G>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403560	0.96051	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.37915	1.17	6.16	6.16	0.99307	.	0.405081	0.28470	N	0.015240	T	0.49779	0.1577	M	0.67397	2.05	0.45272	D	0.998274	P;P	0.47484	0.896;0.896	P;P	0.48368	0.575;0.575	T	0.48603	-0.9021	10	0.72032	D	0.01	-20.5138	19.0403	0.92995	0.0:0.0:1.0:0.0	.	104;105	Q6P995;A8K122	F171B_HUMAN;.	K	104	ENSP00000304108:E104K	ENSP00000272804:E104K	E	+	1	0	FAM171B	187313271	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	4.842000	0.62831	2.937000	0.99478	0.650000	0.86243	GAA		0.383	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		19	27	0	0	0	0.006122	0	19	27				
ORC2	4999	broad.mit.edu	37	2	201785816	201785816	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:201785816C>G	ENST00000234296.2	-	14	1443	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	398					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTCTCAACATCTGGCTATCCA	0.358																																							uc002uwr.2		NA																	0					0						c.(1192-1194)CAG>CAC		origin recognition complex, subunit 2							93.0	89.0	90.0					2																	201785816		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201785816C>G		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1194G>C	2.37:g.201785816C>G	ENSP00000234296:p.Gln398His					ORC2L_uc010zhj.1_Missense_Mutation_p.Q398H	p.Q398H	NM_006190	NP_006181	Q13416	ORC2_HUMAN			14	1451	-			398					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.1194G>C	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575763	0.65878	.	.	ENSG00000115942	ENST00000234296	T	0.45276	0.9	5.96	-0.654	0.11443	.	0.108355	0.64402	D	0.000004	T	0.54919	0.1888	M	0.62723	1.935	0.42662	D	0.993486	D;D	0.71674	0.991;0.998	D;D	0.72982	0.95;0.979	T	0.53711	-0.8400	10	0.48119	T	0.1	-14.5497	11.2445	0.48990	0.0:0.6949:0.0:0.3051	.	398;398	B4DYU9;Q13416	.;ORC2_HUMAN	H	398	ENSP00000234296:Q398H	ENSP00000234296:Q398H	Q	-	3	2	ORC2	201494061	0.288000	0.24324	0.998000	0.56505	0.993000	0.82548	-0.316000	0.08071	-0.069000	0.12931	-0.302000	0.09304	CAG		0.358	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		7	44	0	0	0	0.006214	0	7	44				
SNRPB	6628	broad.mit.edu	37	20	2448373	2448373	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:2448373T>C	ENST00000438552.2	-	2	197	c.35A>G	c.(34-36)cAt>cGt	p.H12R	RP4-734P14.4_ENST00000461548.1_Silent_p.A112A|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Missense_Mutation_p.H12R	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	12					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GTAATCAATATGCTGCAGCAT	0.517																																							uc002wfz.1		NA																	0				ovary(1)	1						c.(34-36)CAT>CGT		small nuclear ribonucleoprotein polypeptide B/B'							127.0	107.0	113.0					20																	2448373		2203	4300	6503	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2448373T>C		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.35A>G	20.37:g.2448373T>C	ENSP00000412566:p.His12Arg					SNRPB_uc002wga.1_Missense_Mutation_p.H12R|SNRPB_uc010zpv.1_5'UTR|SNRPB_uc002wgb.2_Missense_Mutation_p.H12R|SNRPB_uc010gan.2_Missense_Mutation_p.H12R	p.H12R	NM_198216	NP_937859	P14678	RSMB_HUMAN			2	198	-			12					Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.35A>G	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295299	0.81025	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.67145	0.984;0.996;0.996;0.996	D;D;D;D	0.66847	0.932;0.947;0.947;0.947	T	0.75391	-0.3334	10	0.87932	D	0	.	13.96	0.64172	0.0:0.0:0.0:1.0	.	12;12;12;12	E7ENP4;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	R	12	ENSP00000370746:H12R;ENSP00000412566:H12R	ENSP00000303591:H12R	H	-	2	0	SNRPB	2396373	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.928000	0.87587	2.180000	0.69256	0.528000	0.53228	CAT		0.517	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			29	36	0	0	0	0.009535	0	29	36				
TRMT6	51605	broad.mit.edu	37	20	5921749	5921749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:5921749C>A	ENST00000203001.2	-	10	1382	c.1252G>T	c.(1252-1254)Gga>Tga	p.G418*	TRMT6_ENST00000453074.2_Nonsense_Mutation_p.G248*|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	418					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATGACCCCTCCCCTCTCCCGC	0.483																																							uc002wmh.1		NA																	0				pancreas(1)	1						c.(1252-1254)GGA>TGA		tRNA methyltransferase 6							157.0	149.0	152.0					20																	5921749		2203	4300	6503	SO:0001587	stop_gained	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5921749C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1252G>T	20.37:g.5921749C>A	ENSP00000203001:p.Gly418*					TRMT6_uc010zra.1_Nonsense_Mutation_p.G248*	p.G418*	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			10	1374	-			418					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Nonsense_Mutation	SNP	ENST00000203001.2	37	c.1252G>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	41	8.600434	0.98879	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.0767	19.7698	0.96359	0.0:1.0:0.0:0.0	.	.	.	.	X	418;248	.	ENSP00000203001:G418X	G	-	1	0	TRMT6	5869749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.619000	0.67729	2.659000	0.90383	0.655000	0.94253	GGA		0.483	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			79	148	1	0	1.42074e-37	0.01441	2.12071e-37	79	148				
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299																																							uc010ztl.1		NA																	6	Unknown(6)		kidney(4)|prostate(2)		0						c.e1+1		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001630	splice_region_variant	284802							g.chr20:29624093G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.116+1G>T	20.37:g.29624093G>T						FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron	p.R9_splice							1	58	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.26_splice		.	.	.	.	.	.	.	.	.	.	.	11.58	1.679853	0.29783	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28237754	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	5	10	1	0	3.09899e-07	0.004482	3.57845e-07	5	10				
HCK	3055	broad.mit.edu	37	20	30674477	30674477	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:30674477A>G	ENST00000520553.1	+	9	1065	c.819A>G	c.(817-819)ccA>ccG	p.P273P	HCK_ENST00000375862.2_Silent_p.P293P|HCK_ENST00000375852.2_Silent_p.P294P|HCK_ENST00000518730.1_Silent_p.P272P|HCK_ENST00000534862.1_Silent_p.P274P|HCK_ENST00000538448.1_Silent_p.P273P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CGATGAAGCCAGGGAGCATGT	0.577																																							uc002wxh.2		NA																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(880-882)CCA>CCG		hemopoietic cell kinase isoform p61HCK							98.0	79.0	85.0					20																	30674477		2202	4300	6502	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674477A>G	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.819A>G	20.37:g.30674477A>G						HCK_uc010gdy.2_Silent_p.P273P|HCK_uc002wxi.2_Silent_p.P272P	p.P294P	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		9	1053	+			294			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.882A>G	CCDS54455.1																																																																																				0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			4	28	0	0	0	0.000602	0	4	28				
NECAB3	63941	broad.mit.edu	37	20	32260229	32260229	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:32260229C>A	ENST00000246190.6	-	2	185		c.e2-1		NECAB3_ENST00000375238.4_Splice_Site|RP1-63M2.5_ENST00000606866.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3						protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						TGCGGAAAACCTAGAGGACAA	0.627																																							uc002wzn.3		NA																	0				lung(1)	1						c.e2-1		N-terminal EF-hand calcium binding protein 3							73.0	78.0	76.0					20																	32260229		1933	4135	6068	SO:0001630	splice_region_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32260229C>A	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.130-1G>T	20.37:g.32260229C>A						NECAB3_uc002wzm.3_Splice_Site_p.V44_splice|NECAB3_uc002wzo.3_Splice_Site|NECAB3_uc002wzp.3_Splice_Site|NECAB3_uc002wzq.3_Splice_Site_p.V44_splice|NECAB3_uc002wzr.3_Splice_Site|NECAB3_uc010geo.2_Splice_Site_p.V44_splice	p.V44_splice	NM_031232	NP_112509	Q96P71	NECA3_HUMAN			2	236	-								A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Splice_Site	SNP	ENST00000246190.6	37	c.130_splice	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746309	0.69418	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4648	0.84076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NECAB3	31723890	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.339000	0.52135	2.664000	0.90586	0.561000	0.74099	.		0.627	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2		Intron	21	29	1	0	1.22574e-08	0.014323	1.45378e-08	21	29				
RBM12	10137	broad.mit.edu	37	20	34242137	34242137	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:34242137G>A	ENST00000374114.3	-	3	1371	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R370C|RBM12_ENST00000359646.1_Missense_Mutation_p.R370C|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	370	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCACATAGCGTTGAATCATC	0.428											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002xdq.2		NA																	0				ovary(3)	3						c.(1108-1110)CGC>TGC		RNA binding motif protein 12							177.0	167.0	171.0					20																	34242137		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242137G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1108C>T	20.37:g.34242137G>A	ENSP00000363228:p.Arg370Cys		OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	846	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R370C|RBM12_uc002xds.2_Missense_Mutation_p.R370C	p.R370C	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		370			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1108C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386458	0.42308	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.13307	2.6;2.6;2.6	4.77	2.84	0.33178	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000001	T	0.28995	0.0720	H	0.96015	3.755	0.80722	D	1	B	0.28208	0.203	B	0.27170	0.077	T	0.24368	-1.0162	10	0.87932	D	0	-0.0084	10.901	0.47051	0.1512:0.0:0.8488:0.0	.	370	Q9NTZ6	RBM12_HUMAN	C	370;370;370;169	ENSP00000363228:R370C;ENSP00000352668:R370C;ENSP00000363217:R370C	ENSP00000339879:R169C	R	-	1	0	RBM12	33705551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.553000	0.67287	0.642000	0.30620	0.549000	0.68633	CGC		0.428	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		34	115	0	0	0	0.013726	0	34	115				
FAM83D	81610	broad.mit.edu	37	20	37580937	37580937	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:37580937T>G	ENST00000217429.4	+	4	1663	c.1622T>G	c.(1621-1623)cTg>cGg	p.L541R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	511					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCCAAGTACCTGGGCACCCCC	0.542																																							uc002xjg.2		NA																	0				ovary(3)	3						c.(1621-1623)CTG>CGG		hypothetical protein LOC81610							52.0	54.0	54.0					20																	37580937		1914	4119	6033	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580937T>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1622T>G	20.37:g.37580937T>G	ENSP00000217429:p.Leu541Arg						p.L541R	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1663	+		Myeloproliferative disorder(115;0.00878)	511					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1622T>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394510	0.42512	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12039	2.72	6.17	2.48	0.30137	.	1.833770	0.02476	N	0.088051	T	0.11623	0.0283	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.29671	-1.0004	10	0.20046	T	0.44	.	2.3388	0.04254	0.1208:0.1308:0.2085:0.5399	.	511	Q9H4H8	FA83D_HUMAN	R	541;495	ENSP00000217429:L541R	ENSP00000217429:L541R	L	+	2	0	FAM83D	37014351	0.710000	0.27896	0.570000	0.28473	0.916000	0.54674	1.414000	0.34736	0.692000	0.31613	0.533000	0.62120	CTG		0.542	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			7	36	0	0	0	0.001984	0	7	36				
L3MBTL1	26013	broad.mit.edu	37	20	42158990	42158990	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:42158990G>A	ENST00000427442.2	+	10	1216	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A285T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A285T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A353T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A285T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	285					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTGGGTCAATGCCAACTCCCC	0.562																																							uc010zwh.1		NA																	0					0						c.(1057-1059)GCC>ACC		l(3)mbt-like isoform I							151.0	134.0	140.0					20																	42158990		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42158990G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1057G>A	20.37:g.42158990G>A	ENSP00000402107:p.Ala353Thr					L3MBTL_uc002xkl.2_Missense_Mutation_p.A285T|L3MBTL_uc002xkm.2_Missense_Mutation_p.A285T|L3MBTL_uc010ggl.2_Missense_Mutation_p.A285T|L3MBTL_uc002xkn.1_Missense_Mutation_p.A44T|L3MBTL_uc002xko.2_5'Flank	p.A353T	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1103	+		Myeloproliferative disorder(115;0.00452)	285			MBT 1.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1057G>A	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.758529|5.758529	0.96898|0.96898	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861|ENST00000445228	T;T;T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47;1.47;1.47|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.981;0.995|.	T|T	0.77648|0.77648	-0.2509|-0.2509	10|5	0.87932|.	D|.	0|.	.|.	18.7731|18.7731	0.91900|0.91900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	353;285;285|.	Q9Y468-5;Q9Y468-2;Q9Y468-1|.	.;.;.|.	T|Y	353;353;285;285;285;71|6	ENSP00000402107:A353T;ENSP00000398516:A353T;ENSP00000362227:A285T;ENSP00000403316:A285T;ENSP00000362226:A285T;ENSP00000410139:A71T|.	ENSP00000362226:A285T|.	A|C	+|+	1|2	0|0	L3MBTL1|L3MBTL1	41592404|41592404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.806000|9.806000	0.99153|0.99153	2.731000|2.731000	0.93534|0.93534	0.556000|0.556000	0.70494|0.70494	GCC|TGC		0.562	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		20	77	0	0	0	0.007413	0	20	77				
ZNF831	128611	broad.mit.edu	37	20	57782054	57782054	+	Missense_Mutation	SNP	G	G	A	rs373682660		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:57782054G>A	ENST00000371030.2	+	3	3970	c.3970G>A	c.(3970-3972)Gca>Aca	p.A1324T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1324							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACCCTCCCGCACTTGAGGG	0.552																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3970-3972)GCA>ACA		zinc finger protein 831		G	THR/ALA	1,3919		0,1,1959	72.0	77.0	75.0		3970	0.9	0.0	20		75	1,8293		0,1,4146	no	missense	ZNF831	NM_178457.1	58	0,2,6105	AA,AG,GG		0.0121,0.0255,0.0164	benign	1324/1678	57782054	2,12212	1960	4147	6107	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57782054G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3970G>A	20.37:g.57782054G>A	ENSP00000360069:p.Ala1324Thr						p.A1324T	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			3	3970	+	all_lung(29;0.0085)		1324					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3970G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756888	0.31137	2.55E-4	1.21E-4	ENSG00000124203	ENST00000371030	T	0.04706	3.57	5.44	0.918	0.19386	.	1.386750	0.04453	N	0.372920	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44817	-0.9303	10	0.22109	T	0.4	1.4532	8.1143	0.30933	0.5329:0.3328:0.1343:0.0	.	1324	Q5JPB2	ZN831_HUMAN	T	1324	ENSP00000360069:A1324T	ENSP00000360069:A1324T	A	+	1	0	ZNF831	57215449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.116000	0.10724	0.270000	0.21984	-0.724000	0.03597	GCA		0.552	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	153	0	0	0	0.000602	0	5	153				
LAMA5	3911	broad.mit.edu	37	20	60884853	60884853	+	Missense_Mutation	SNP	C	C	T	rs200525579	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:60884853C>T	ENST00000252999.3	-	79	10933	c.10867G>A	c.(10867-10869)Gcg>Acg	p.A3623T	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3623	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTGCTCTGCGCGTCCACCTCC	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		8900	0.0		0.001	False		,,,				2504	0.001						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(10867-10869)GCG>ACG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)		THR/ALA	0,4372		0,0,2186	26.0	29.0	28.0		10867	-9.9	0.0	20		28	4,8538		0,4,4267	yes	missense	LAMA5	NM_005560.3	58	0,4,6453	TT,TC,CC		0.0468,0.0,0.031	benign	3623/3696	60884853	4,12910	2186	4271	6457	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884853C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10867G>A	20.37:g.60884853C>T	ENSP00000252999:p.Ala3623Thr						p.A3623T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		79	10934	-	Breast(26;1.57e-08)		3623			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10867G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	4.890	0.165414	0.09339	0.0	4.68E-4	ENSG00000130702	ENST00000252999	T	0.78924	-1.22	4.95	-9.89	0.00464	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.970892	0.08450	N	0.944073	T	0.29716	0.0742	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33854	-0.9852	10	0.02654	T	1	.	1.8989	0.03264	0.3088:0.0967:0.0846:0.5098	.	3623	O15230	LAMA5_HUMAN	T	3623	ENSP00000252999:A3623T	ENSP00000252999:A3623T	A	-	1	0	LAMA5	60318248	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-2.749000	0.00375	-0.509000	0.04479	GCG		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		10	26	0	0	0	0.010729	0	10	26				
OGFR	11054	broad.mit.edu	37	20	61438897	61438897	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:61438897G>C	ENST00000290291.6	+	2	205	c.180G>C	c.(178-180)atG>atC	p.M60I	OGFR-AS1_ENST00000431361.1_RNA|OGFR_ENST00000370461.1_5'UTR	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	60				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). {ECO:0000305}.	opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGTCCAGAATGACAGGGTCCA	0.617																																							uc002ydj.2		NA																	0					0						c.(178-180)ATG>ATC		opioid growth factor receptor							67.0	57.0	61.0					20																	61438897		2201	4299	6500	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61438897G>C	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.180G>C	20.37:g.61438897G>C	ENSP00000290291:p.Met60Ile					OGFR_uc002ydk.2_Missense_Mutation_p.M43I|OGFR_uc002ydl.2_5'UTR	p.M60I	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			2	215	+	Breast(26;3.65e-08)		60	DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).				O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.180G>C	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569448	0.28003	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000450048	T;T	0.42900	1.91;0.96	4.39	1.2	0.21068	.	0.814991	0.11457	N	0.562136	T	0.25344	0.0616	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.26483	0.15;0.073	B;B	0.19946	0.027;0.027	T	0.17319	-1.0373	10	0.44086	T	0.13	-7.9994	4.5263	0.11983	0.2079:0.361:0.4311:0.0	.	43;60	Q05BV5;Q9NZT2	.;OGFR_HUMAN	I	60;60;60;1	ENSP00000290291:M60I;ENSP00000359499:M60I	ENSP00000290291:M60I	M	+	3	0	OGFR	60909342	0.000000	0.05858	0.001000	0.08648	0.369000	0.29798	0.520000	0.22878	0.374000	0.24650	0.484000	0.47621	ATG		0.617	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			23	50	0	0	0	0.014323	0	23	50				
SRMS	6725	broad.mit.edu	37	20	62172566	62172566	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62172566G>C	ENST00000217188.1	-	7	1303	c.1263C>G	c.(1261-1263)acC>acG	p.T421T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACTGGCCATAGGTGAAAACCT	0.632																																							uc002yfi.1		NA																	0				stomach(1)|lung(1)	2						c.(1261-1263)ACC>ACG		src-related kinase lacking C-terminal regulatory							67.0	70.0	69.0					20																	62172566		2202	4300	6502	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172566G>C		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1263C>G	20.37:g.62172566G>C							p.T421T	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1304	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		421			Protein kinase.			Silent	SNP	ENST00000217188.1	37	c.1263C>G	CCDS13525.1																																																																																				0.632	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		18	184	0	0	0	0.006122	0	18	184				
ZNF512B	57473	broad.mit.edu	37	20	62594447	62594447	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62594447C>A	ENST00000450537.1	-	12	2029		c.e12+1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)					GAGCCACTCACGGGGGCCGTG	0.617																																							uc002yhl.1		NA																	0					0						c.e12+1		zinc finger protein 512B							40.0	26.0	31.0					20																	62594447		2191	4285	6476	SO:0001630	splice_region_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62594447C>A	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.1968+1G>T	20.37:g.62594447C>A							p.P656_splice	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			12	2022	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)							Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37	c.1968_splice	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912076	0.33721	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4935	0.90855	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62064891	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	5.897000	0.69831	2.365000	0.80145	0.462000	0.41574	.		0.617	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Intron	4	6	1	0	0.00024832	0.009096	0.000268501	4	6				
ADAMTS1	9510	broad.mit.edu	37	21	28212871	28212871	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:28212871C>G	ENST00000284984.3	-	5	1843	c.1389G>C	c.(1387-1389)ttG>ttC	p.L463F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	463	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			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)		GCTTGTCCATCAAACATTCCC	0.478																																							uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1387-1389)TTG>TTC		ADAM metallopeptidase with thrombospondin type 1							59.0	57.0	58.0					21																	28212871		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212871C>G	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.1389G>C	21.37:g.28212871C>G	ENSP00000284984:p.Leu463Phe						p.L463F	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	1844	-		Breast(209;0.000962)	463			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1389G>C	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593446	0.66219	.	.	ENSG00000154734	ENST00000284984	T	0.73152	-0.72	5.14	2.36	0.29203	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.82972	0.5153	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84168	0.0432	9	0.87932	D	0	.	10.9938	0.47563	0.0:0.7861:0.0:0.2139	.	463	Q9UHI8	ATS1_HUMAN	F	463	ENSP00000284984:L463F	ENSP00000284984:L463F	L	-	3	2	ADAMTS1	27134742	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.949000	0.29109	0.867000	0.35654	0.650000	0.86243	TTG		0.478	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			11	40	0	0	0	0.010729	0	11	40				
KRTAP19-2	337969	broad.mit.edu	37	21	31859623	31859623	+	Silent	SNP	C	C	T	rs149309849		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:31859623C>T	ENST00000334055.3	-	1	132	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	15						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCATAGCCCAGTCTGCAGA	0.552																																							uc011acy.1		NA																	0					0						c.(43-45)CTG>CTA		keratin associated protein 19-2		C		1,4405		0,1,2202	152.0	148.0	149.0		45	1.4	0.6	21	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	KRTAP19-2	NM_181608.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		15/53	31859623	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	337969					intermediate filament		g.chr21:31859623C>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.45G>A	21.37:g.31859623C>T							p.L15L	NM_181608	NP_853639	Q3LHN2	KR192_HUMAN			1	45	-			15						Silent	SNP	ENST00000334055.3	37	c.45G>A	CCDS13595.1																																																																																				0.552	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			63	95	0	0	0	0.01441	0	63	95				
KRTAP10-11	386678	broad.mit.edu	37	21	46067232	46067232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:46067232C>A	ENST00000334670.8	+	1	902	c.857C>A	c.(856-858)gCc>gAc	p.A286D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	286						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCCCGCCTGGCCTGCTACAGC	0.642																																							uc002zfr.3		NA																	0				ovary(1)	1						c.(856-858)GCC>GAC		keratin associated protein 10-11							32.0	40.0	37.0					21																	46067232		2184	4270	6454	SO:0001583	missense	386678					keratin filament		g.chr21:46067232C>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.857C>A	21.37:g.46067232C>A	ENSP00000334197:p.Ala286Asp					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A286D	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	902	+			286					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.857C>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	10.72	1.428722	0.25726	.	.	ENSG00000243489	ENST00000334670	T	0.01133	5.29	3.87	2.98	0.34508	.	.	.	.	.	T	0.04272	0.0118	M	0.76170	2.325	0.26627	N	0.972538	D	0.56746	0.977	P	0.57057	0.812	T	0.19386	-1.0307	9	0.87932	D	0	.	9.143	0.36914	0.0:0.8877:0.0:0.1123	.	286	P60412	KR10B_HUMAN	D	286	ENSP00000334197:A286D	ENSP00000334197:A286D	A	+	2	0	KRTAP10-11	44891660	0.717000	0.27966	0.101000	0.21167	0.012000	0.07955	1.502000	0.35704	0.614000	0.30107	-0.379000	0.06801	GCC		0.642	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		10	33	1	0	1.36491e-13	0.001855	1.75489e-13	10	33				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			8	Substitution - coding silent(8)	p.S372S(1)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1116)TCC>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	p.S372S	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188	-			372			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.1116C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	53	0	0	0	0.001984	0	4	53				
PRR14L	253143	broad.mit.edu	37	22	32072908	32072908	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32072908C>T	ENST00000397493.2	-	9	6468	c.6276G>A	c.(6274-6276)ctG>ctA	p.L2092L				Q5THK1	PR14L_HUMAN	proline rich 14-like	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCGTGAGGCCAGCAGTGGGT	0.622																																							uc003alo.1		NA																	0					0						c.(5671-5673)CTG>CTA		hypothetical protein LOC253143							21.0	21.0	21.0					22																	32072908		2203	4299	6502	SO:0001819	synonymous_variant	253143							g.chr22:32072908C>T	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6276G>A	22.37:g.32072908C>T							p.L1891L	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN			6	5729	-			Error:Variant_position_missing_in_Q5THK1_after_alignment					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Silent	SNP	ENST00000397493.2	37	c.5673G>A		.	.	.	.	.	.	.	.	.	.	C	2.474	-0.321144	0.05386	.	.	ENSG00000183530	ENST00000330495	.	.	.	1.89	-0.276	0.12902	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	2.4517	0.04519	0.2928:0.5279:0.0:0.1794	.	.	.	.	S	395	.	.	G	-	1	0	PRR14L	30402908	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.050000	0.14120	-0.001000	0.14495	-0.317000	0.08691	GGC		0.622	PRR14L-201	KNOWN	basic	protein_coding	protein_coding		NM_173566		3	9	0	0	0	0.009096	0	3	9				
SLC5A4	6527	broad.mit.edu	37	22	32621724	32621724	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32621724G>C	ENST00000266086.4	-	12	1378	c.1367C>G	c.(1366-1368)aCa>aGa	p.T456R	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	456					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTGATTCTGTGTAATGGAT	0.398																																							uc003ami.2		NA																	0					0						c.(1366-1368)ACA>AGA		solute carrier family 5 (low affinity glucose							103.0	103.0	103.0					22																	32621724		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32621724G>C	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1367C>G	22.37:g.32621724G>C	ENSP00000266086:p.Thr456Arg						p.T456R	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			12	1369	-			456			Helical; (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1367C>G	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652024	0.14580	.	.	ENSG00000100191	ENST00000266086	D	0.87887	-2.31	5.16	0.568	0.17333	.	0.396961	0.31438	N	0.007657	D	0.82472	0.5044	L	0.47716	1.5	0.25855	N	0.983894	B	0.20550	0.046	B	0.32583	0.148	T	0.74645	-0.3596	10	0.87932	D	0	.	8.367	0.32393	0.702:0.0:0.298:0.0	.	456	Q9NY91	SC5A4_HUMAN	R	456	ENSP00000266086:T456R	ENSP00000266086:T456R	T	-	2	0	SLC5A4	30951724	0.998000	0.40836	0.878000	0.34440	0.066000	0.16364	3.086000	0.50159	-0.027000	0.13873	-0.225000	0.12378	ACA		0.398	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		8	22	0	0	0	0.006214	0	8	22				
EFHB	151651	broad.mit.edu	37	3	19962031	19962031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:19962031C>G	ENST00000295824.9	-	2	979	c.818G>C	c.(817-819)aGa>aCa	p.R273T	EFHB_ENST00000344838.4_Missense_Mutation_p.R143T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	273							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GGTTGCAACTCTGTAACCAAC	0.378																																							uc003cbl.3		NA																	0					0						c.(817-819)AGA>ACA		EF hand domain family, member B							87.0	88.0	87.0					3																	19962031		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19962031C>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.818G>C	3.37:g.19962031C>G	ENSP00000295824:p.Arg273Thr					EFHB_uc003cbm.2_Missense_Mutation_p.R143T	p.R273T	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			2	1014	-			273					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.818G>C	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792518	0.31685	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256	T;T;T	0.26067	1.76;1.86;2.07	5.75	5.75	0.90469	.	0.084305	0.51477	D	0.000091	T	0.32041	0.0816	L	0.39633	1.23	0.35566	D	0.805057	D;B	0.67145	0.996;0.15	P;B	0.53146	0.719;0.019	T	0.22836	-1.0205	9	.	.	.	-27.2242	13.122	0.59331	0.0:0.8396:0.1604:0.0	.	143;273	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	T	273;143;273	ENSP00000295824:R273T;ENSP00000342263:R143T;ENSP00000373908:R273T	.	R	-	2	0	EFHB	19937035	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.443000	0.52907	2.716000	0.92895	0.655000	0.94253	AGA		0.378	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		12	36	0	0	0	0.013537	0	12	36				
SGOL1	151648	broad.mit.edu	37	3	20216419	20216419	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:20216419T>G	ENST00000263753.4	-	6	743	c.604A>C	c.(604-606)Ata>Cta	p.I202L	SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.I202L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Missense_Mutation_p.I202L|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.I202L|SGOL1_ENST00000443724.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	202					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AACTGACATATACTGTTACAA	0.358																																							uc003cbs.2		NA																	0					0						c.(604-606)ATA>CTA		shugoshin-like 1 isoform A2							104.0	102.0	103.0					3																	20216419		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20216419T>G	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.604A>C	3.37:g.20216419T>G	ENSP00000263753:p.Ile202Leu					SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.I202L|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.I202L|SGOL1_uc003cca.2_Missense_Mutation_p.I202L|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	p.I202L	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			6	791	-			202					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.604A>C	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	7.952	0.745057	0.15710	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.27720	1.65;1.65;1.67;1.67	6.03	-10.2	0.00374	.	3.173450	0.00465	N	0.000100	T	0.06781	0.0173	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	10	0.09338	T	0.73	.	2.9727	0.05927	0.1509:0.204:0.1736:0.4714	.	202;202	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	L	202	ENSP00000263753:I202L;ENSP00000414129:I202L;ENSP00000410458:I202L;ENSP00000406880:I202L	ENSP00000263753:I202L	I	-	1	0	SGOL1	20191423	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-1.394000	0.02518	-1.446000	0.01945	-1.259000	0.01468	ATA		0.358	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		14	63	0	0	0	0.001855	0	14	63				
KIF9	64147	broad.mit.edu	37	3	47286388	47286388	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:47286388G>A	ENST00000265529.3	-	16	2087	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	KIF9_ENST00000352910.4_Silent_p.H376H|KIF9_ENST00000335044.2_Silent_p.H469H|KIF9_ENST00000444589.2_Silent_p.H469H|KIF9_ENST00000452770.2_Silent_p.H469H|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	469					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACCCACTAGGTGGCCATCAA	0.517																																					Colon(44;962 1147 15977 24541)	Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	0				skin(1)	1						c.(1405-1407)CAC>CAT		kinesin family member 9 isoform 2							81.0	74.0	77.0					3																	47286388		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47286388G>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1407C>T	3.37:g.47286388G>A						KIF9_uc003cqx.2_Silent_p.H469H|KIF9_uc003cqy.2_Silent_p.H469H|KIF9_uc011bat.1_RNA	p.H469H	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2011	-		Acute lymphoblastic leukemia(5;0.164)	469					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.1407C>T	CCDS2752.1																																																																																				0.517	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			11	44	0	0	0	0.010729	0	11	44				
FOXP1	27086	broad.mit.edu	37	3	71161757	71161757	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:71161757T>C	ENST00000318789.4	-	7	737	c.212A>G	c.(211-213)cAg>cGg	p.Q71R	FOXP1_ENST00000468577.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000493089.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000498215.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000491238.1_Missense_Mutation_p.Q73R|FOXP1_ENST00000484350.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000475937.1_Missense_Mutation_p.Q71R	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	71	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTTGCTGCTGAAGAAGGAG	0.408			T	PAX5	ALL																																		uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(211-213)CAG>CGG		forkhead box P1 isoform 1							144.0	141.0	142.0					3																	71161757		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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.chr3:71161757T>C	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.212A>G	3.37:g.71161757T>C	ENSP00000318902:p.Gln71Arg					FOXP1_uc003dom.2_Missense_Mutation_p.Q71R|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q71R|FOXP1_uc003dop.2_Missense_Mutation_p.Q71R|FOXP1_uc003doq.1_Missense_Mutation_p.Q71R|FOXP1_uc003doj.2_5'UTR|FOXP1_uc003dok.2_5'UTR	p.Q71R	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	3	535	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	71			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.212A>G	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034676	0.54896	.	.	ENSG00000114861	ENST00000318789;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.36157	1.28;1.28;1.27;1.29;1.28;1.28;1.35;1.28	6.08	6.08	0.98989	.	0.188939	0.47093	D	0.000249	T	0.55465	0.1922	M	0.63843	1.955	0.80722	D	1	P;P;P;P	0.48294	0.908;0.908;0.851;0.851	P;P;P;P	0.61397	0.888;0.888;0.775;0.775	T	0.54221	-0.8326	10	0.51188	T	0.08	.	14.8928	0.70623	0.0:0.0:0.0:1.0	.	71;71;71;71	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	R	71;71;71;43;73;71;71;71;71	ENSP00000318902:Q71R;ENSP00000419393:Q71R;ENSP00000418225:Q43R;ENSP00000420736:Q73R;ENSP00000418524:Q71R;ENSP00000418102:Q71R;ENSP00000417857:Q71R;ENSP00000418883:Q71R	ENSP00000318902:Q71R	Q	-	2	0	FOXP1	71244447	1.000000	0.71417	0.986000	0.45419	0.472000	0.32918	6.465000	0.73538	2.333000	0.79357	0.482000	0.46254	CAG		0.408	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		15	96	0	0	0	0.006122	0	15	96				
CD200R1	131450	broad.mit.edu	37	3	112648254	112648254	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112648254C>A	ENST00000471858.1	-	3	466	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CD200R1_ENST00000440122.2_Silent_p.L101L|CD200R1_ENST00000295863.4_Silent_p.L56L|CD200R1_ENST00000308611.3_Silent_p.L101L|CD200R1_ENST00000490004.1_Silent_p.L78L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	78	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCTGGCCTCTCAGGATTATTT	0.423																																							uc003dzk.1		NA																	0		p.T78A(1)		ovary(2)|pancreas(1)	3						c.(232-234)CTG>CTT		CD200 receptor 1 isoform d							114.0	111.0	112.0					3																	112648254		2203	4297	6500	SO:0001819	synonymous_variant	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648254C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.234G>T	3.37:g.112648254C>A						CD200R1_uc003dzj.1_Silent_p.L101L|CD200R1_uc011bhx.1_Silent_p.L56L|CD200R1_uc003dzl.1_Silent_p.L101L|CD200R1_uc003dzm.1_Silent_p.L78L	p.L78L	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			3	467	-			78			Ig-like V-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	c.234G>T	CCDS2970.1																																																																																				0.423	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		15	64	1	0	2.35188e-11	0.006122	2.92551e-11	15	64				
RPN1	6184	broad.mit.edu	37	3	128356933	128356934	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:128356933_128356934TG>GA	ENST00000296255.3	-	3	389_390	c.341_342CA>TC	c.(340-342)aCA>aTC	p.T114I	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	114					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGAGCTTGACTGTGAAGAATCT	0.446			T	EVI1	AML																																		uc003ekr.1		NA		Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				ovary(2)|central_nervous_system(1)	3						c.(340-342)ACA>ATC		ribophorin I precursor																																				SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128356933_128356934TG>GA		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.341_342delinsGA	3.37:g.128356933_128356934delinsGA	ENSP00000296255:p.Thr114Ile					RPN1_uc011bkq.1_5'UTR	p.T114I	NM_002950	NP_002941	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	417_418	-			114			Lumenal (Potential).		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	DNP	ENST00000296255.3	37	c.341_342CA>TC	CCDS3051.1																																																																																				0.446	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		6	29	0	0	0	0.004672	0	6	29				
EFCAB12	90288	broad.mit.edu	37	3	129140321	129140321	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:129140321C>A	ENST00000505956.1	-	2	537	c.375G>T	c.(373-375)tgG>tgT	p.W125C	EFCAB12_ENST00000326085.3_Missense_Mutation_p.W125C	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	125							calcium ion binding (GO:0005509)										TGTTCTCCAGCCACCTCTTTA	0.562																																							uc003emg.2		NA																	0					NA						c.(373-375)TGG>TGT		hypothetical protein LOC90288							112.0	111.0	111.0					3																	129140321		2082	4216	6298	SO:0001583	missense	0							g.chr3:129140321C>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.375G>T	3.37:g.129140321C>A	ENSP00000420854:p.Trp125Cys						p.W125C	NM_207307	NP_997190					2	538	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.375G>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539035	0.27475	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.69561	-0.41;-0.41	3.97	3.09	0.35607	.	0.134744	0.34828	N	0.003653	T	0.50292	0.1607	N	0.24115	0.695	0.41022	D	0.985085	B	0.27498	0.18	B	0.29176	0.099	T	0.52079	-0.8623	10	0.54805	T	0.06	-13.1345	9.0892	0.36601	0.2187:0.7813:0.0:0.0	.	125	Q6NXP0	CC025_HUMAN	C	125	ENSP00000420854:W125C;ENSP00000324241:W125C	ENSP00000324241:W125C	W	-	3	0	C3orf25	130623011	1.000000	0.71417	0.667000	0.29798	0.147000	0.21601	1.580000	0.36547	1.234000	0.43709	0.655000	0.94253	TGG		0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		16	50	1	0	5.01169e-05	0.00499	5.4967e-05	16	50				
MME	4311	broad.mit.edu	37	3	154884801	154884801	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:154884801G>T	ENST00000460393.1	+	18	1891	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	MME_ENST00000492661.1_Missense_Mutation_p.D591Y|MME_ENST00000462745.1_Missense_Mutation_p.D591Y|MME_ENST00000493237.1_Missense_Mutation_p.D591Y|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.D591Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	591					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCATGGCTTCGATGACAATGG	0.423																																							uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1771-1773)GAT>TAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						136.0	124.0	128.0					3																	154884801		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884801G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1771G>T	3.37:g.154884801G>T	ENSP00000418525:p.Asp591Tyr					MME_uc003fab.1_Missense_Mutation_p.D591Y|MME_uc003fac.1_Missense_Mutation_p.D591Y|MME_uc003fad.1_Missense_Mutation_p.D591Y|MME_uc003fae.1_Missense_Mutation_p.D591Y	p.D591Y	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1982	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	591			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1771G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889806	0.91889	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	-35.4174	20.2789	0.98501	0.0:0.0:1.0:0.0	.	591	P08473	NEP_HUMAN	Y	591	ENSP00000420389:D591Y;ENSP00000418525:D591Y;ENSP00000419653:D591Y;ENSP00000417079:D591Y;ENSP00000353679:D591Y	ENSP00000353679:D591Y	D	+	1	0	MME	156367495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	GAT		0.423	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		31	52	1	0	7.61165e-28	0.003755	1.07335e-27	31	52				
PLCH1	23007	broad.mit.edu	37	3	155210596	155210596	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:155210596T>A	ENST00000340059.7	-	17	2192	c.2193A>T	c.(2191-2193)aaA>aaT	p.K731N	PLCH1_ENST00000460012.1_Missense_Mutation_p.K713N|PLCH1_ENST00000494598.1_Missense_Mutation_p.K731N|PLCH1_ENST00000334686.6_Missense_Mutation_p.K713N|PLCH1_ENST00000447496.2_Missense_Mutation_p.K731N|PLCH1_ENST00000414191.1_Missense_Mutation_p.K713N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	731	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGCTGCTTTTTGGGGTTGG	0.473																																							uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(2191-2193)AAA>AAT		phospholipase C eta 1 isoform a							174.0	146.0	156.0					3																	155210596		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155210596T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2193A>T	3.37:g.155210596T>A	ENSP00000345988:p.Lys731Asn					PLCH1_uc011boj.1_Missense_Mutation_p.K731N|PLCH1_uc011bol.1_Missense_Mutation_p.K713N	p.K731N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		17	2470	-			731			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2193A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.400946	0.83120	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35048	1.85;1.79;1.33;1.78;1.79;1.79	5.95	-0.294	0.12831	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.46947	1.48	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.99;0.988	T	0.30149	-0.9988	10	0.48119	T	0.1	.	10.3732	0.44066	0.0:0.4811:0.0:0.5189	.	713;731;731	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	731;713;731;731;713;713	ENSP00000419100:K731N;ENSP00000417502:K713N;ENSP00000402759:K731N;ENSP00000345988:K731N;ENSP00000335469:K713N;ENSP00000412977:K713N	ENSP00000335469:K713N	K	-	3	2	PLCH1	156693290	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.537000	0.36083	-0.046000	0.13446	0.533000	0.62120	AAA		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	71	0	0	0	0.001855	0	10	71				
PDE6B	5158	broad.mit.edu	37	4	628571	628571	+	Missense_Mutation	SNP	G	G	T	rs368548274		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:628571G>T	ENST00000496514.1	+	2	595	c.574G>T	c.(574-576)Gca>Tca	p.A192S	PDE6B_ENST00000255622.6_Missense_Mutation_p.A192S			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	192	GAF 1.				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)			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)	GGTGATCATGGCAGTGAACAA	0.567																																					GBM(71;463 1194 9848 25922 46834)	GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NA																	0					0						c.(574-576)GCA>TCA		phosphodiesterase 6B isoform 1							149.0	115.0	126.0					4																	628571		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.chr4:628571G>T	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.574G>T	4.37:g.628571G>T	ENSP00000420295:p.Ala192Ser					PDE6B_uc003gao.3_Missense_Mutation_p.A192S	p.A192S	NM_000283	NP_000274	P35913	PDE6B_HUMAN			2	627	+			192			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.574G>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406469	0.62399	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.68903	-0.36;-0.36	4.5	4.5	0.54988	GAF (2);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.86805	2.84	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72075	0.976;0.959	D	0.86216	0.1628	10	0.62326	D	0.03	.	14.6966	0.69126	0.0:0.0:1.0:0.0	.	192;192	P35913;P35913-2	PDE6B_HUMAN;.	S	192	ENSP00000255622:A192S;ENSP00000420295:A192S	ENSP00000255622:A192S	A	+	1	0	PDE6B	618571	1.000000	0.71417	0.992000	0.48379	0.110000	0.19582	9.105000	0.94246	2.059000	0.61396	0.486000	0.48141	GCA		0.567	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		30	50	1	0	3.90053e-15	0.012213	5.1894e-15	30	50				
WHSC1	7468	broad.mit.edu	37	4	1918692	1918692	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918692A>C	ENST00000382895.3	+	6	1286	c.855A>C	c.(853-855)gaA>gaC	p.E285D	WHSC1_ENST00000382892.2_Missense_Mutation_p.E285D|WHSC1_ENST00000382891.5_Missense_Mutation_p.E285D|WHSC1_ENST00000398261.1_Missense_Mutation_p.E285D|WHSC1_ENST00000503128.1_Missense_Mutation_p.E285D|WHSC1_ENST00000514045.1_Missense_Mutation_p.E285D|WHSC1_ENST00000420906.2_Missense_Mutation_p.E285D|WHSC1_ENST00000508803.1_Missense_Mutation_p.E285D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	285	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TAGCTTTTGAAGGAGAAGGAC	0.443			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(853-855)GAA>GAC		Wolf-Hirschhorn syndrome candidate 1 protein							74.0	77.0	76.0					4																	1918692		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918692A>C	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.855A>C	4.37:g.1918692A>C	ENSP00000372351:p.Glu285Asp					WHSC1_uc003geb.3_Missense_Mutation_p.E285D|WHSC1_uc003gec.3_Missense_Mutation_p.E285D|WHSC1_uc003ged.3_Missense_Mutation_p.E285D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.E285D|WHSC1_uc003gdy.1_Missense_Mutation_p.E285D|WHSC1_uc010icd.1_Missense_Mutation_p.E285D|WHSC1_uc003gea.1_Missense_Mutation_p.E285D|WHSC1_uc010ice.1_Missense_Mutation_p.E285D|WHSC1_uc003geh.1_Missense_Mutation_p.E285D	p.E285D	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1031	+		all_epithelial(65;1.34e-05)	285			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.855A>C	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929295	0.73327	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.25	5.25	0.73442	PWWP (3);	0.097739	0.45126	D	0.000381	T	0.57989	0.2091	L	0.33093	0.98	0.80722	D	1	P;B;P;P	0.44044	0.825;0.383;0.726;0.825	B;B;B;B	0.35931	0.214;0.122;0.214;0.214	T	0.60707	-0.7210	10	0.34782	T	0.22	.	15.3257	0.74160	1.0:0.0:0.0:0.0	.	285;285;285;285	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	D	285	ENSP00000423972:E285D;ENSP00000421681:E285D;ENSP00000372347:E285D;ENSP00000372348:E285D;ENSP00000399251:E285D;ENSP00000372351:E285D;ENSP00000425761:E285D;ENSP00000422878:E285D;ENSP00000381311:E285D	ENSP00000308780:E285D	E	+	3	2	WHSC1	1888490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.012000	0.57131	2.194000	0.70268	0.533000	0.62120	GAA		0.443	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		18	35	0	0	0	0.006122	0	18	35				
WHSC1	7468	broad.mit.edu	37	4	1918695	1918695	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918695A>G	ENST00000382895.3	+	6	1289	c.858A>G	c.(856-858)ggA>ggG	p.G286G	WHSC1_ENST00000382892.2_Silent_p.G286G|WHSC1_ENST00000382891.5_Silent_p.G286G|WHSC1_ENST00000398261.1_Silent_p.G286G|WHSC1_ENST00000503128.1_Silent_p.G286G|WHSC1_ENST00000514045.1_Silent_p.G286G|WHSC1_ENST00000420906.2_Silent_p.G286G|WHSC1_ENST00000508803.1_Silent_p.G286G	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	286	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTTTGAAGGAGAAGGACAGT	0.443			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(856-858)GGA>GGG		Wolf-Hirschhorn syndrome candidate 1 protein							75.0	77.0	77.0					4																	1918695		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918695A>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.858A>G	4.37:g.1918695A>G						WHSC1_uc003geb.3_Silent_p.G286G|WHSC1_uc003gec.3_Silent_p.G286G|WHSC1_uc003ged.3_Silent_p.G286G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.G286G|WHSC1_uc003gdy.1_Silent_p.G286G|WHSC1_uc010icd.1_Silent_p.G286G|WHSC1_uc003gea.1_Silent_p.G286G|WHSC1_uc010ice.1_Silent_p.G286G|WHSC1_uc003geh.1_Silent_p.G286G	p.G286G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1034	+		all_epithelial(65;1.34e-05)	286			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.858A>G	CCDS33940.1																																																																																				0.443	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		17	35	0	0	0	0.00499	0	17	35				
EPHA5	2044	broad.mit.edu	37	4	66467497	66467497	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:66467497C>T	ENST00000273854.3	-	3	1372	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	EPHA5_ENST00000354839.4_Missense_Mutation_p.V258M|EPHA5_ENST00000432638.2_Missense_Mutation_p.V258M|EPHA5_ENST00000511294.1_Missense_Mutation_p.V258M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	258	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAGCCTGACACTTCGAGCAAT	0.517										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(772-774)GTG>ATG		ephrin receptor EphA5 isoform a precursor							74.0	69.0	70.0					4																	66467497		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467497C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.772G>A	4.37:g.66467497C>T	ENSP00000273854:p.Val258Met	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.V189M|EPHA5_uc003hcz.2_Missense_Mutation_p.V258M|EPHA5_uc011cah.1_Missense_Mutation_p.V258M|EPHA5_uc011cai.1_Missense_Mutation_p.V258M|EPHA5_uc003hda.2_Missense_Mutation_p.V258M	p.V258M	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	965	-			258			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.772G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274626	0.80580	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.78126	-1.08;-1.15;-1.03;-1.06	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000038	D	0.90017	0.6883	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.97110	0.999;0.947;1.0;0.981	D	0.90639	0.4573	10	0.87932	D	0	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	258;258;258;258	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	258	ENSP00000273854:V258M;ENSP00000389208:V258M;ENSP00000346899:V258M;ENSP00000427638:V258M	ENSP00000273854:V258M	V	-	1	0	EPHA5	66150092	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.818000	0.86416	2.758000	0.94735	0.655000	0.94253	GTG		0.517	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	29	0	0	0	0.009096	0	4	29				
UGT2B4	7363	broad.mit.edu	37	4	70361289	70361289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70361289C>T	ENST00000305107.6	-	1	337	c.291G>A	c.(289-291)tgG>tgA	p.W97*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W97*|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	97					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GAAGTTCTGCCCATCTCTTAA	0.343																																							uc003hek.3		NA																	0				skin(2)	2						c.(289-291)TGG>TGA		UDP glucuronosyltransferase 2B4 precursor							54.0	51.0	52.0					4																	70361289		2008	4219	6227	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361289C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.291G>A	4.37:g.70361289C>T	ENSP00000305221:p.Trp97*					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Nonsense_Mutation_p.W97*	p.W97*	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	338	-			97					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.291G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730869	0.30684	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	.	.	.	2.41	1.54	0.23209	.	0.374875	0.25305	U	0.031623	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8623	0.24074	0.0:0.8457:0.0:0.1543	.	.	.	.	X	97	.	ENSP00000305221:W97X	W	-	3	0	UGT2B4	70395878	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	1.641000	0.37197	0.337000	0.23665	0.306000	0.20318	TGG		0.343	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		5	24	0	0	0	0.001168	0	5	24				
SULT1B1	27284	broad.mit.edu	37	4	70599959	70599959	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70599959G>C	ENST00000310613.3	-	5	696	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAACATCCTTGGCATTACGAG	0.363																																							uc003hen.2		NA																	0					0						c.(397-399)GCC>GCG		sulfotransferase family, cytosolic, 1B, member							29.0	30.0	30.0					4																	70599959		2201	4298	6499	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599959G>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.399C>G	4.37:g.70599959G>C							p.A133A	NM_014465	NP_055280	O43704	ST1B1_HUMAN			5	697	-			133			PAPS (By similarity).		O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.399C>G	CCDS3530.1																																																																																				0.363	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		7	17	0	0	0	0.001984	0	7	17				
ADAMTS3	9508	broad.mit.edu	37	4	73185609	73185609	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:73185609A>G	ENST00000286657.4	-	8	1210	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAAAGCAGATGAAAAACCA	0.408																																					NSCLC(168;1941 2048 2918 13048 43078)	NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(1174-1176)TCT>CCT		ADAM metallopeptidase with thrombospondin type 1							114.0	102.0	106.0					4																	73185609		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73185609A>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1174T>C	4.37:g.73185609A>G	ENSP00000286657:p.Ser392Pro						p.S392P	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1211	-			392			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1174T>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663860	0.88251	.	.	ENSG00000156140	ENST00000286657	T	0.63417	-0.04	5.97	5.97	0.96955	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84158	0.0427	10	0.39692	T	0.17	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	392	O15072	ATS3_HUMAN	P	392	ENSP00000286657:S392P	ENSP00000286657:S392P	S	-	1	0	ADAMTS3	73404473	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	TCT		0.408	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	27	0	0	0	0.001168	0	5	27				
DSPP	1834	broad.mit.edu	37	4	88533832	88533832	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:88533832G>T	ENST00000282478.7	+	3	527	c.494G>T	c.(493-495)gGg>gTg	p.G165V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G165V			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	165					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACCCAAAATGGGGATGTTGGC	0.443																																							uc003hqu.2		NA																	0				central_nervous_system(1)	1						c.(493-495)GGG>GTG		dentin sialophosphoprotein preproprotein							115.0	110.0	112.0					4																	88533832		2012	4178	6190	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88533832G>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.494G>T	4.37:g.88533832G>T	ENSP00000282478:p.Gly165Val						p.G165V	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	614	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	165					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.494G>T	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539308	0.27475	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.91792	-2.91;-2.91	4.8	2.91	0.33838	.	0.258921	0.20346	N	0.094142	D	0.91703	0.7377	L	0.32530	0.975	0.20074	N	0.999938	D	0.69078	0.997	P	0.62382	0.901	D	0.84405	0.0562	10	0.66056	D	0.02	-0.0211	10.5189	0.44907	0.1886:0.0:0.8114:0.0	.	165	Q9NZW4	DSPP_HUMAN	V	165	ENSP00000382213:G165V;ENSP00000282478:G165V	ENSP00000282478:G165V	G	+	2	0	DSPP	88752856	0.000000	0.05858	0.009000	0.14445	0.136000	0.21042	-0.126000	0.10563	1.246000	0.43901	0.455000	0.32223	GGG		0.443	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		11	26	1	0	1.58986e-06	0.008291	1.7952e-06	11	26				
HERC5	51191	broad.mit.edu	37	4	89410318	89410318	+	Splice_Site	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:89410318G>C	ENST00000264350.3	+	16	2117	c.1964G>C	c.(1963-1965)aGt>aCt	p.S655T	HERC5_ENST00000508159.1_Splice_Site_p.S293T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	655					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTTCCTAGAGTAAAAAACAT	0.368																																					Esophageal Squamous(39;887 1012 34045 50514)	Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	0				ovary(4)|lung(3)|skin(2)	9						c.(1963-1965)AGT>ACT		hect domain and RLD 5							83.0	85.0	84.0					4																	89410318		2203	4300	6503	SO:0001630	splice_region_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89410318G>C	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1963-1G>C	4.37:g.89410318G>C						HERC5_uc011cdm.1_Missense_Mutation_p.S293T	p.S655T	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	16	2117	+		Hepatocellular(203;0.114)	655					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1964G>C	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	1.167	-0.642235	0.03531	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.76448	-1.02;-1.02	4.99	-2.48	0.06423	.	1.951500	0.03319	N	0.191647	T	0.53417	0.1795	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40496	-0.9560	10	0.14252	T	0.57	.	3.8792	0.09071	0.4261:0.0:0.1662:0.4077	.	655	Q9UII4	HERC5_HUMAN	T	655;293	ENSP00000264350:S655T;ENSP00000424129:S293T	ENSP00000264350:S655T	S	+	2	0	HERC5	89629341	0.093000	0.21703	0.010000	0.14722	0.001000	0.01503	0.047000	0.14056	0.020000	0.15106	-1.308000	0.01314	AGT		0.368	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	Missense_Mutation	15	29	0	0	0	0.00245	0	15	29				
CENPE	1062	broad.mit.edu	37	4	104037847	104037847	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:104037847C>A	ENST00000265148.3	-	45	7419		c.e45-1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAACTTTGTCCtaaatttttt	0.308																																							uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.e45-1		centromere protein E							35.0	35.0	35.0					4																	104037847		2194	4283	6477	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104037847C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7330-1G>T	4.37:g.104037847C>A						CENPE_uc003hxc.1_Splice_Site_p.D2323_splice	p.D2444_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	45	7420	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.7330_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468852	0.26335	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9471	0.64091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104257296	0.997000	0.39634	0.989000	0.46669	0.266000	0.26442	3.710000	0.54860	2.414000	0.81942	0.655000	0.94253	.		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	8	5	1	0	0.00307968	0.00308	0.00327216	8	5				
FAT4	79633	broad.mit.edu	37	4	126370496	126370496	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:126370496G>C	ENST00000394329.3	+	9	8338	c.8325G>C	c.(8323-8325)caG>caC	p.Q2775H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1073H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2775	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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						GGTTTTCTCAGATATTTAGTG	0.388																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8323-8325)CAG>CAC		FAT tumor suppressor homolog 4 precursor							106.0	115.0	112.0					4																	126370496		2202	4296	6498	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370496G>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.8325G>C	4.37:g.126370496G>C	ENSP00000377862:p.Gln2775His					FAT4_uc011cgp.1_Missense_Mutation_p.Q1073H|FAT4_uc003ifi.1_Missense_Mutation_p.Q253H	p.Q2775H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8325	+			2775			Cadherin 27.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8325G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489835	0.64074	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.61	-4.75	0.03239	Cadherin (2);Cadherin-like (1);	0.000000	0.33075	U	0.005306	T	0.02888	0.0086	N	0.12961	0.28	0.47862	D	0.999531	D;P;D	0.69078	0.993;0.939;0.997	P;P;D	0.63597	0.891;0.702;0.916	T	0.00233	-1.1894	10	0.29301	T	0.29	.	18.0634	0.89384	0.2318:0.0:0.7682:0.0	.	1073;2775;2775	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	2775;1073	ENSP00000377862:Q2775H;ENSP00000335169:Q1073H	ENSP00000335169:Q1073H	Q	+	3	2	FAT4	126589946	0.995000	0.38212	0.895000	0.35142	0.993000	0.82548	0.339000	0.19875	-0.969000	0.03573	-0.140000	0.14226	CAG		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		46	81	0	0	0	0.01441	0	46	81				
USP38	84640	broad.mit.edu	37	4	144106691	144106691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:144106691G>T	ENST00000307017.4	+	1	594	c.88G>T	c.(88-90)Gag>Tag	p.E30*	RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Nonsense_Mutation_p.E30*|RP11-284M14.1_ENST00000507486.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	30					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGAATCGGCGGAGCACTGGCT	0.642																																							uc003ijb.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(88-90)GAG>TAG		ubiquitin specific peptidase 38							75.0	66.0	69.0					4																	144106691		2203	4300	6503	SO:0001587	stop_gained	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144106691G>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.88G>T	4.37:g.144106691G>T	ENSP00000303434:p.Glu30*					USP38_uc003ija.3_Nonsense_Mutation_p.E30*|USP38_uc003ijc.2_RNA	p.E30*	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			1	622	+	all_hematologic(180;0.158)		30					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Nonsense_Mutation	SNP	ENST00000307017.4	37	c.88G>T	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	43	10.181223	0.99353	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-4.2378	19.1462	0.93469	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000303434:E30X	E	+	1	0	USP38	144326141	0.995000	0.38212	0.773000	0.31616	0.989000	0.77384	2.262000	0.43285	2.758000	0.94735	0.561000	0.74099	GAG		0.642	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		6	50	1	0	3.59834e-05	0.001168	3.96076e-05	6	50				
SMAD1	4086	broad.mit.edu	37	4	146463737	146463737	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:146463737A>G	ENST00000515385.1	+	4	1204	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMAD1_ENST00000394092.2_Missense_Mutation_p.D221G|SMAD1_ENST00000302085.4_Missense_Mutation_p.D221G			Q15797	SMAD1_HUMAN	SMAD family member 1	221					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTTGTAGCTGATACGCCCCCA	0.468																																					Pancreas(182;1287 2092 10326 35158 50562)	Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2		NA																	0				ovary(1)	1						c.(661-663)GAT>GGT		Sma- and Mad-related protein 1							71.0	77.0	75.0					4																	146463737		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146463737A>G	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.662A>G	4.37:g.146463737A>G	ENSP00000426568:p.Asp221Gly					SMAD1_uc003ikd.2_Missense_Mutation_p.D221G|SMAD1_uc010iov.2_Missense_Mutation_p.D221G|SMAD1_uc011cic.1_Intron	p.D221G	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			4	1078	+	all_hematologic(180;0.151)		221					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.662A>G	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410112	0.83340	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.97232	-4.3;-4.3;-4.3	5.63	5.63	0.86233	SMAD/FHA domain (1);	0.192456	0.56097	D	0.000033	D	0.94023	0.8085	L	0.38649	1.16	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.91433	0.5167	10	0.18710	T	0.47	.	15.8536	0.78956	1.0:0.0:0.0:0.0	.	221	Q15797	SMAD1_HUMAN	G	221	ENSP00000305769:D221G;ENSP00000377652:D221G;ENSP00000426568:D221G	ENSP00000305769:D221G	D	+	2	0	SMAD1	146683187	1.000000	0.71417	0.857000	0.33713	0.961000	0.63080	9.287000	0.95975	2.149000	0.67028	0.528000	0.53228	GAT		0.468	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		16	65	0	0	0	0.004007	0	16	65				
TTC29	83894	broad.mit.edu	37	4	147796034	147796034	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:147796034C>T	ENST00000325106.4	-	7	859	c.633G>A	c.(631-633)ttG>ttA	p.L211L	TTC29_ENST00000513335.1_Silent_p.L237L|TTC29_ENST00000398886.4_Silent_p.L237L	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	211										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCCCTGTGTCAATTGATGGA	0.458																																							uc003ikw.3		NA																	0					0						c.(631-633)TTG>TTA		tetratricopeptide repeat domain 29							44.0	43.0	43.0					4																	147796034		1865	4112	5977	SO:0001819	synonymous_variant	83894						binding	g.chr4:147796034C>T	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.633G>A	4.37:g.147796034C>T						TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L237L|TTC29_uc010ipd.1_Silent_p.L211L	p.L211L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			7	860	-	all_hematologic(180;0.151)		211			TPR 1.		A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.633G>A	CCDS47141.1																																																																																				0.458	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		4	30	0	0	0	0.001168	0	4	30				
GPM6A	2823	broad.mit.edu	37	4	176572989	176572989	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:176572989C>A	ENST00000280187.7	-	5	582	c.537G>T	c.(535-537)caG>caT	p.Q179H	GPM6A_ENST00000393658.2_Missense_Mutation_p.Q179H|GPM6A_ENST00000515090.1_Missense_Mutation_p.Q172H|GPM6A_ENST00000506894.1_Missense_Mutation_p.Q168H	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	179					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACTTACCAAACTGACGAAGGT	0.413																																							uc003iuf.2		NA																	0					0						c.(535-537)CAG>CAT		glycoprotein M6A isoform 2							138.0	132.0	134.0					4																	176572989		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176572989C>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.537G>T	4.37:g.176572989C>A	ENSP00000280187:p.Gln179His					GPM6A_uc011ckj.1_Missense_Mutation_p.Q172H|GPM6A_uc003iug.2_Missense_Mutation_p.Q179H|GPM6A_uc003iuh.2_Missense_Mutation_p.Q168H	p.Q179H	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	1341	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	179			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.537G>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923103	0.73213	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.62	3.9	0.45041	.	0.050934	0.85682	D	0.000000	D	0.99242	0.9736	M	0.79475	2.455	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.996;0.996;0.996	D	0.99470	1.0945	10	0.87932	D	0	-23.3897	11.5559	0.50748	0.0:0.8072:0.1256:0.0672	.	172;168;179	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	H	179;179;168;172;171;116;116	ENSP00000280187:Q179H;ENSP00000377268:Q179H;ENSP00000421578:Q168H;ENSP00000423984:Q172H;ENSP00000422959:Q171H;ENSP00000426984:Q116H;ENSP00000426821:Q116H	ENSP00000280187:Q179H	Q	-	3	2	GPM6A	176809983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.767000	0.38501	0.853000	0.35312	0.650000	0.86243	CAG		0.413	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			36	56	1	0	2.75727e-19	0.004878	3.76663e-19	36	56				
CDH18	1016	broad.mit.edu	37	5	19571797	19571797	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:19571797G>A	ENST00000507958.1	-	10	2134	c.1144C>T	c.(1144-1146)Cta>Tta	p.L382L	CDH18_ENST00000511273.1_Silent_p.L382L|CDH18_ENST00000502796.1_Silent_p.L382L|CDH18_ENST00000274170.4_Silent_p.L382L|CDH18_ENST00000506372.1_Silent_p.L382L|CDH18_ENST00000382275.1_Silent_p.L382L			Q13634	CAD18_HUMAN	cadherin 18, type 2	382	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGGAAAATAGTGGTGGTTCA	0.428																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1144-1146)CTA>TTA		cadherin 18, type 2 preproprotein							169.0	138.0	148.0					5																	19571797		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571797G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1144C>T	5.37:g.19571797G>A						CDH18_uc003jgd.2_Silent_p.L382L|CDH18_uc011cnm.1_Silent_p.L382L	p.L382L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1521	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		382			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1144C>T	CCDS3889.1																																																																																				0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		60	44	0	0	0	0.01441	0	60	44				
CDH12	1010	broad.mit.edu	37	5	21783553	21783553	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:21783553C>A	ENST00000382254.1	-	11	2393	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G396V|CDH12_ENST00000504376.2_Missense_Mutation_p.G436V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCTTCATTTCCATCTATTGT	0.368										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1306-1308)GGA>GTA		cadherin 12, type 2 preproprotein							216.0	209.0	211.0					5																	21783553		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21783553C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1307G>T	5.37:g.21783553C>A	ENSP00000371689:p.Gly436Val	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.G396V|CDH12_uc003jgk.2_Missense_Mutation_p.G436V	p.G436V	NM_004061	NP_004052	P55289	CAD12_HUMAN			8	1765	-			436			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1307G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464747	0.26335	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51071	0.72;0.72;0.72	5.54	0.176	0.15049	Cadherin (4);Cadherin-like (1);	0.268524	0.41605	D	0.000842	T	0.28433	0.0703	N	0.14661	0.345	0.58432	D	0.999992	B;B	0.15141	0.0;0.012	B;B	0.21917	0.01;0.037	T	0.06881	-1.0802	10	0.40728	T	0.16	.	10.9269	0.47195	0.0:0.3866:0.476:0.1374	.	396;436	B7Z2U6;P55289	.;CAD12_HUMAN	V	436;436;396	ENSP00000423577:G436V;ENSP00000371689:G436V;ENSP00000428786:G396V	ENSP00000371689:G436V	G	-	2	0	CDH12	21819310	0.999000	0.42202	0.986000	0.45419	0.996000	0.88848	1.376000	0.34306	0.269000	0.21961	0.655000	0.94253	GGA		0.368	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		54	196	1	0	7.50695e-29	0.01441	1.06349e-28	54	196				
CARD6	84674	broad.mit.edu	37	5	40852497	40852497	+	Nonsense_Mutation	SNP	A	A	T	rs371334015		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:40852497A>T	ENST00000254691.5	+	3	1262	c.1063A>T	c.(1063-1065)Aag>Tag	p.K355*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	355					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAAGATAGCAAGGAGGATTT	0.463																																							uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1063-1065)AAG>TAG		caspase recruitment domain family, member 6							63.0	61.0	61.0					5																	40852497		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852497A>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1063A>T	5.37:g.40852497A>T	ENSP00000254691:p.Lys355*						p.K355*	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1138	+			355					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.1063A>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091477	0.55968	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	.	.	.	5.49	-1.93	0.07594	.	0.799458	0.11461	N	0.561780	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2343	5.0873	0.14689	0.4625:0.2694:0.2681:0.0	.	.	.	.	X	355	.	ENSP00000254691:K355X	K	+	1	0	CARD6	40888254	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.090000	0.03372	-0.454000	0.07066	0.533000	0.62120	AAG		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			10	56	0	0	0	0.006214	0	10	56				
EDIL3	10085	broad.mit.edu	37	5	83476214	83476214	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:83476214G>T	ENST00000296591.5	-	4	770	c.352C>A	c.(352-354)Cac>Aac	p.H118N	EDIL3_ENST00000380138.3_Missense_Mutation_p.H108N	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	118					cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AACTTACTGTGCTGACAGTGA	0.348																																							uc003kio.1		NA																	0				skin(2)	2						c.(352-354)CAC>AAC		EGF-like repeats and discoidin I-like							88.0	81.0	83.0					5																	83476214		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83476214G>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.352C>A	5.37:g.83476214G>T	ENSP00000296591:p.His118Asn					EDIL3_uc003kip.1_Missense_Mutation_p.H108N	p.H118N	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	4	771	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	118					B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.352C>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169471	0.57584	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.91521	-2.86;-2.36	5.35	5.35	0.76521	.	0.212834	0.48767	D	0.000176	T	0.80232	0.4585	N	0.02697	-0.525	0.80722	D	1	B;B	0.31817	0.341;0.004	B;B	0.32762	0.152;0.008	T	0.78001	-0.2375	10	0.20519	T	0.43	.	19.4168	0.94704	0.0:0.0:1.0:0.0	.	108;118	O43854-2;O43854	.;EDIL3_HUMAN	N	118;108	ENSP00000296591:H118N;ENSP00000369483:H108N	ENSP00000296591:H118N	H	-	1	0	EDIL3	83511970	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.388000	0.97237	2.660000	0.90430	0.563000	0.77884	CAC		0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		8	8	1	0	1.12685e-05	0.004482	1.25845e-05	8	8				
DMXL1	1657	broad.mit.edu	37	5	118468905	118468905	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:118468905C>G	ENST00000311085.8	+	11	1474	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S465*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	465										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTACCAAACTCAAGTTTTACA	0.348																																							uc003ksd.2		NA																	0				ovary(2)	2						c.(1393-1395)TCA>TGA		Dmx-like 1							139.0	132.0	135.0					5																	118468905		2202	4300	6502	SO:0001587	stop_gained	1657							g.chr5:118468905C>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1394C>G	5.37:g.118468905C>G	ENSP00000309690:p.Ser465*					DMXL1_uc010jcl.1_Nonsense_Mutation_p.S465*|DMXL1_uc003ksc.1_Nonsense_Mutation_p.S465*	p.S465*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	11	1575	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	465						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.1394C>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299810	0.60195	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	.	.	.	5.32	4.41	0.53225	.	0.308466	0.31847	N	0.006963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.4396	12.516	0.56032	0.0:0.9144:0.0:0.0856	.	.	.	.	X	465	.	ENSP00000309690:S465X	S	+	2	0	DMXL1	118496804	0.996000	0.38824	0.995000	0.50966	0.111000	0.19643	2.605000	0.46283	1.181000	0.42912	0.591000	0.81541	TCA		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		27	91	0	0	0	0.003954	0	27	91				
FTMT	94033	broad.mit.edu	37	5	121188315	121188315	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:121188315G>T	ENST00000321339.1	+	1	666	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	219	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAAGATGGGGGCCCCGGATG	0.512																																							uc003kss.2		NA																	0				ovary(1)	1						c.(655-657)GGG>GGT		ferritin mitochondrial precursor							106.0	118.0	114.0					5																	121188315		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188315G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.657G>T	5.37:g.121188315G>T							p.G219G	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	666	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	219			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.657G>T	CCDS4128.1																																																																																				0.512	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		39	101	1	0	8.16277e-20	0.006999	1.12009e-19	39	101				
PCDHB10	56126	broad.mit.edu	37	5	140573212	140573212	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:140573212A>T	ENST00000239446.4	+	1	1271	c.1087A>T	c.(1087-1089)Acg>Tcg	p.T363S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	363	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCTGAGACGCCGCTGGC	0.413																																							uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(1087-1089)ACG>TCG		protocadherin beta 10 precursor							73.0	75.0	74.0					5																	140573212		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573212A>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1087A>T	5.37:g.140573212A>T	ENSP00000239446:p.Thr363Ser						p.T363S	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1261	+			363			Cadherin 4.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1087A>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	A	8.117	0.780050	0.16120	.	.	ENSG00000120324	ENST00000239446	T	0.56444	0.46	3.23	2.03	0.26663	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.62196	0.2408	M	0.84326	2.69	0.28148	N	0.929493	B	0.30361	0.277	B	0.42593	0.392	T	0.61744	-0.7000	9	0.72032	D	0.01	.	8.2488	0.31704	0.8995:0.0:0.1005:0.0	.	363	Q9UN67	PCDBA_HUMAN	S	363	ENSP00000239446:T363S	ENSP00000239446:T363S	T	+	1	0	PCDHB10	140553396	0.826000	0.29277	0.104000	0.21259	0.031000	0.12232	5.956000	0.70315	0.446000	0.26666	-0.451000	0.05528	ACG		0.413	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		26	58	0	0	0	0.003954	0	26	58				
GPR151	134391	broad.mit.edu	37	5	145895386	145895386	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:145895386C>T	ENST00000311104.2	-	1	367	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGTACGCCGTAGCTCGGA	0.507																																					Pancreas(78;420 1386 18535 37114 49710)	Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NA																	0				ovary(1)|pancreas(1)	2						c.(289-291)ACG>ACA		G protein-coupled receptor 151							121.0	119.0	119.0					5																	145895386		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895386C>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.291G>A	5.37:g.145895386C>T							p.T97T	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	291	-			97			Extracellular (Potential).		Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.291G>A	CCDS34266.1																																																																																				0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		19	91	0	0	0	0.010504	0	19	91				
AFAP1L1	134265	broad.mit.edu	37	5	148691741	148691741	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:148691741C>T	ENST00000296721.4	+	9	1092	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L332F	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	332						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCAGTCCTCCTGTGCAA	0.592																																							uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(994-996)CTC>TTC		actin filament associated protein 1-like 1							113.0	105.0	108.0					5																	148691741		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148691741C>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.994C>T	5.37:g.148691741C>T	ENSP00000296721:p.Leu332Phe					AFAP1L1_uc003lqg.3_Missense_Mutation_p.L332F|AFAP1L1_uc010jgy.2_Missense_Mutation_p.L332F	p.L332F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1125	+			332					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.994C>T	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	4.485	0.089870	0.08632	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.16073	2.38;2.37	6.04	1.58	0.23477	.	0.594379	0.17192	N	0.183463	T	0.09202	0.0227	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.12156	0.007;0.002;0.004	T	0.40289	-0.9571	10	0.09590	T	0.72	-8.3471	8.1566	0.31173	0.3332:0.5316:0.0:0.1352	.	332;332;332	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	F	332	ENSP00000296721:L332F;ENSP00000424427:L332F	ENSP00000296721:L332F	L	+	1	0	AFAP1L1	148671934	0.391000	0.25221	0.722000	0.30670	0.195000	0.23768	0.869000	0.27996	0.383000	0.24910	-0.291000	0.09656	CTC		0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		23	201	0	0	0	0.005443	0	23	201				
PDE6A	5145	broad.mit.edu	37	5	149324039	149324039	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:149324039C>A	ENST00000255266.5	-	1	317	c.198G>T	c.(196-198)cgG>cgT	p.R66R		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	66					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)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CCTGAAAGTCCCGCAGGAGAT	0.532																																							uc003lrg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(196-198)CGG>CGT		phosphodiesterase 6A							73.0	72.0	72.0					5																	149324039		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149324039C>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.198G>T	5.37:g.149324039C>A							p.R66R	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	318	-			66					Q0P638	Silent	SNP	ENST00000255266.5	37	c.198G>T	CCDS4299.1																																																																																				0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			26	32	1	0	3.73148e-12	0.007291	4.66054e-12	26	32				
CLINT1	9685	broad.mit.edu	37	5	157216486	157216486	+	Silent	SNP	G	G	A	rs559799646		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:157216486G>A	ENST00000411809.2	-	11	1620	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	CLINT1_ENST00000530742.1_Silent_p.T472T|CLINT1_ENST00000523094.1_Silent_p.T472T|CLINT1_ENST00000523908.1_Silent_p.T490T|CLINT1_ENST00000296951.5_Silent_p.T472T	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	472					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAGGGCAAGGTTTTGCTGA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17952	0.0		0.0	False		,,,				2504	0.0				Colon(22;427 587 2170 6147 14291)	Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1414-1416)ACC>ACT		epsin 4							216.0	210.0	212.0					5																	157216486		1927	4135	6062	SO:0001819	synonymous_variant	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157216486G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1416C>T	5.37:g.157216486G>A						CLINT1_uc003lxg.1_Silent_p.T9T|CLINT1_uc003lxh.1_Silent_p.T46T|CLINT1_uc003lxi.1_Silent_p.T472T|CLINT1_uc011ddv.1_Silent_p.T490T	p.T472T	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1606	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	472					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Silent	SNP	ENST00000411809.2	37	c.1416C>T	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	9.508	1.105041	0.20632	.	.	ENSG00000113282	ENST00000522381	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59107	-0.7516	4	.	.	.	0.0068	9.9759	0.41783	0.0761:0.1404:0.7834:0.0	.	.	.	.	F	20	.	.	L	-	1	0	CLINT1	157149064	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.739000	0.26173	2.941000	0.99782	0.655000	0.94253	CTT		0.448	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		35	100	0	0	0	0.006999	0	35	100				
DOCK2	1794	broad.mit.edu	37	5	169454937	169454937	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:169454937A>T	ENST00000256935.8	+	34	3532	c.3452A>T	c.(3451-3453)cAg>cTg	p.Q1151L	DOCK2_ENST00000540750.1_Missense_Mutation_p.Q212L|MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000520908.1_Missense_Mutation_p.Q643L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1151	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACATGCAGCTCCTGGAG	0.537																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3451-3453)CAG>CTG		dedicator of cytokinesis 2							109.0	99.0	102.0					5																	169454937		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454937A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3452A>T	5.37:g.169454937A>T	ENSP00000256935:p.Gln1151Leu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q643L	p.Q1151L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3532	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1151			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3452A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136717	0.37728	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.42131	0.98;0.98;0.98	5.37	4.21	0.49690	.	0.061504	0.64402	D	0.000003	T	0.38719	0.1051	L	0.49350	1.555	0.32361	N	0.557103	P;P	0.52842	0.956;0.665	B;B	0.44224	0.444;0.119	T	0.51687	-0.8674	10	0.38643	T	0.18	.	10.9739	0.47454	0.927:0.0:0.073:0.0	.	643;1151	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1151;643;212	ENSP00000256935:Q1151L;ENSP00000429283:Q643L;ENSP00000438827:Q212L	ENSP00000256935:Q1151L	Q	+	2	0	DOCK2	169387515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.348000	0.52209	0.892000	0.36259	0.528000	0.53228	CAG		0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		15	57	0	0	0	0.004007	0	15	57				
HRH2	3274	broad.mit.edu	37	5	175110355	175110355	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:175110355G>C	ENST00000231683.2	+	1	1892	c.119G>C	c.(118-120)tGt>tCt	p.C40S	HRH2_ENST00000377291.2_Missense_Mutation_p.C40S	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	40					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GTGGTCGTCTGTCTGGCCGTG	0.592																																							uc003mdd.2		NA																	0				ovary(1)	1						c.(118-120)TGT>TCT		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						216.0	187.0	197.0					5																	175110355		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110355G>C		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.119G>C	5.37:g.175110355G>C	ENSP00000231683:p.Cys40Ser					HRH2_uc003mdc.3_Missense_Mutation_p.C40S	p.C40S	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1892	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	40			Helical; Name=1; (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.119G>C	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925602	0.73213	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.73047	-0.71;-0.71	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.89095	3.005	0.80722	D	1	D;D	0.64830	0.98;0.994	D;D	0.70227	0.949;0.968	D	0.88784	0.3273	10	0.66056	D	0.02	.	18.0413	0.89319	0.0:0.0:1.0:0.0	.	40;40	P25021;Q7Z5R9	HRH2_HUMAN;.	S	40	ENSP00000366506:C40S;ENSP00000231683:C40S	ENSP00000231683:C40S	C	+	2	0	HRH2	175042961	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	6.425000	0.73370	2.519000	0.84933	0.462000	0.41574	TGT		0.592	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			35	155	0	0	0	0.003755	0	35	155				
PROP1	5626	broad.mit.edu	37	5	177421211	177421211	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:177421211G>T	ENST00000308304.2	-	2	546	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	80					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	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)			TGTTCCAACTGCACTGGGCTG	0.667																																							uc003mif.1		NA																	0					0						c.(238-240)CAG>AAG		PROP paired-like homeobox 1							59.0	60.0	60.0					5																	177421211		2203	4300	6503	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421211G>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.238C>A	5.37:g.177421211G>T	ENSP00000311290:p.Gln80Lys						p.Q80K	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	547	-	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)	80			Homeobox.			Missense_Mutation	SNP	ENST00000308304.2	37	c.238C>A	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.675415	0.67928	.	.	ENSG00000175325	ENST00000308304	D	0.97941	-4.62	3.42	3.42	0.39159	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.38959	N	0.001502	D	0.98661	0.9551	H	0.98333	4.205	0.58432	D	0.999997	P	0.45348	0.856	P	0.48454	0.578	D	0.99560	1.0968	10	0.72032	D	0.01	-10.5774	12.7553	0.57331	0.0:0.0:1.0:0.0	.	80	O75360	PROP1_HUMAN	K	80	ENSP00000311290:Q80K	ENSP00000311290:Q80K	Q	-	1	0	PROP1	177353817	1.000000	0.71417	0.070000	0.20053	0.497000	0.33675	6.397000	0.73239	1.951000	0.56629	0.555000	0.69702	CAG		0.667	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		27	54	1	0	2.44723e-14	0.004656	3.22781e-14	27	54				
TFAP2A	7020	broad.mit.edu	37	6	10402725	10402725	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:10402725C>A	ENST00000482890.1	-	6	1235	c.883G>T	c.(883-885)Gga>Tga	p.G295*	TFAP2A_ENST00000379613.3_Splice_Site_p.G297*|TFAP2A_ENST00000319516.4_Splice_Site_p.G291*|TFAP2A_ENST00000379604.2_Splice_Site_p.G295*|TFAP2A_ENST00000379608.3_Splice_Site_p.G289*|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	295	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ATTCGCTTACCCTCTACTAGT	0.418																																							uc003myr.2		NA																	0				ovary(1)	1						c.(883-885)GGA>TGA		transcription factor AP-2 alpha isoform a							157.0	135.0	142.0					6																	10402725		2203	4300	6503	SO:0001630	splice_region_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10402725C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.883+1G>T	6.37:g.10402725C>A						TFAP2A_uc003myq.2_Nonsense_Mutation_p.G289*|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.D295Y|TFAP2A_uc003myt.2_Nonsense_Mutation_p.G291*|TFAP2A_uc003myu.1_Missense_Mutation_p.G295C	p.G295*	NM_003220	NP_003211	P05549	AP2A_HUMAN			5	1135	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	295			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Nonsense_Mutation	SNP	ENST00000482890.1	37	c.883G>T	CCDS4510.1	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	C|C|C|C	38|38|38|38	6.845365|6.845365|6.845365|6.845365	0.97881|0.97881|0.97881|0.97881	.|.|.|.	.|.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000466073|ENST00000461628|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890|ENST00000475264	D|.|.|.	0.96913|.|.|.	-4.17|.|.|.	5.91|5.91|5.91|5.91	5.03|5.03|5.03|5.03	0.67393|0.67393|0.67393|0.67393	.|.|.|.	.|0.000000|0.000000|.	.|0.85682|0.85682|.	.|D|D|.	.|0.000000|0.000000|.	T|T|.|T	0.64316|0.64316|.|0.64316	0.2587|0.2587|.|0.2587	.|.|.|.	.|.|.|.	.|.|.|.	0.80722|0.80722|0.80722|0.80722	A|A|A|A	1|1|1|1	B|.|.|.	0.14805|.|.|.	0.011|.|.|.	B|.|.|.	0.12837|.|.|.	0.008|.|.|.	T|T|.|T	0.66122|0.66122|.|0.66122	-0.6002|-0.6002|.|-0.6002	7|4|.|3	0.87932|.|0.87932|.	D|.|D|.	0|.|0|.	-5.54|-5.54|-5.54|-5.54	16.5194|16.5194|16.5194|16.5194	0.84309|0.84309|0.84309|0.84309	0.1318:0.8682:0.0:0.0|0.1318:0.8682:0.0:0.0|0.1318:0.8682:0.0:0.0|0.1318:0.8682:0.0:0.0	.|.|.|.	295|.|.|.	C1K3N0|.|.|.	.|.|.|.	Y|V|X|S	295|69|297;295;291;289;295|199	ENSP00000417495:D295Y|.|.|.	ENSP00000417495:D295Y|.|ENSP00000316516:G291X|.	D|G|G|R	-|-|-|-	1|2|1|3	0|0|0|2	TFAP2A|TFAP2A|TFAP2A|TFAP2A	10510711|10510711|10510711|10510711	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.971000|0.971000|0.971000|0.971000	0.66376|0.66376|0.66376|0.66376	7.818000|7.818000|7.818000|7.818000	0.86416|0.86416|0.86416|0.86416	1.483000|1.483000|1.483000|1.483000	0.48342|0.48342|0.48342|0.48342	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	GAC|GGG|GGA|AGG		0.418	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220	Nonsense_Mutation	17	49	1	0	8.34094e-07	0.008871	9.4882e-07	17	49				
COL11A2	1302	broad.mit.edu	37	6	33143435	33143435	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33143435G>A	ENST00000374708.4	-	28	2292	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	COL11A2_ENST00000361917.1_Silent_p.S657S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.S704S|COL11A2_ENST00000374712.1_Silent_p.S683S|COL11A2_ENST00000357486.1_Silent_p.S743S|COL11A2_ENST00000341947.2_Silent_p.S764S|COL11A2_ENST00000374714.1_Silent_p.S738S|COL11A2_ENST00000374713.1_Silent_p.S717S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	764	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCTCCCCTGGAACCAGGGA	0.637																																					Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(2290-2292)TCC>TCT		collagen, type XI, alpha 2 isoform 1							92.0	82.0	86.0					6																	33143435		1510	2709	4219	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143435G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2034C>T	6.37:g.33143435G>A						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.S678S|COL11A2_uc003ocz.1_Silent_p.S657S	p.S764S	NM_080680	NP_542411	P13942	COBA2_HUMAN			30	2520	-			764			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.2292C>T	CCDS43452.1																																																																																				0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			18	50	0	0	0	0.006122	0	18	50				
KIFC1	3833	broad.mit.edu	37	6	33371649	33371649	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33371649C>A	ENST00000428849.2	+	6	949	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	167					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAACCAGCAGCTTCAGGACCA	0.557																																							uc003oef.3		NA																	0					0						c.(499-501)CTT>ATT		kinesin family member C1							109.0	107.0	108.0					6																	33371649		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371649C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.499C>A	6.37:g.33371649C>A	ENSP00000393963:p.Leu167Ile					KIFC1_uc011drf.1_Missense_Mutation_p.L159I	p.L167I	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			6	949	+			167			Potential.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.499C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739179	0.89573	.	.	ENSG00000237649	ENST00000428849	T	0.78707	-1.2	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.83635	0.5297	M	0.63843	1.955	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.963	D	0.84247	0.0475	10	0.62326	D	0.03	-3.2599	16.5776	0.84705	0.0:1.0:0.0:0.0	.	159;167	B4E063;Q9BW19	.;KIFC1_HUMAN	I	167	ENSP00000393963:L167I	ENSP00000393963:L167I	L	+	1	0	KIFC1	33479627	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	3.381000	0.52455	2.784000	0.95788	0.563000	0.77884	CTT		0.557	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		10	107	1	0	0.00829132	0.008291	0.00874877	10	107				
DNAH8	1769	broad.mit.edu	37	6	38702281	38702281	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:38702281A>T	ENST00000359357.3	+	0	245				DNAH8_ENST00000449981.2_Missense_Mutation_p.K214N|DNAH8_ENST00000441566.1_5'Flank			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGCAACTAAAGGGGCAAAAA	0.363																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(-11--7)AAAGG>AATGG		dynein, axonemal, heavy polypeptide 8							115.0	120.0	119.0					6																	38702281		2203	4300	6503			1769							g.chr6:38702281A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-10A>T	6.37:g.38702281A>T						DNAH8_uc003ood.1_Missense_Mutation_p.K214N		NM_001371	NP_001362					3	591	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Translation_Start_Site	SNP	ENST00000359357.3	37	c.-9A>T		.	.	.	.	.	.	.	.	.	.	A	14.58	2.577338	0.45902	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.26067	1.76	5.77	4.6	0.57074	.	0.113589	0.56097	D	0.000023	T	0.16642	0.0400	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.06041	-1.0849	10	0.17832	T	0.49	.	10.5559	0.45117	0.9265:0.0:0.0735:0.0	.	214	Q8IU65	.	N	214;202;202	ENSP00000333363:K202N	ENSP00000333363:K202N	K	+	3	2	DNAH8	38810259	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	4.149000	0.58091	1.004000	0.39156	0.477000	0.44152	AAA		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		36	61	0	0	0	0.005524	0	36	61				
HCRTR2	3062	broad.mit.edu	37	6	55039538	55039538	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:55039538A>G	ENST00000370862.3	+	1	489	c.153A>G	c.(151-153)aaA>aaG	p.K51K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	51					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCACCCGAAAGAATATGAGT	0.557																																							uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(151-153)AAA>AAG		orexin receptor 2							142.0	121.0	128.0					6																	55039538		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039538A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.153A>G	6.37:g.55039538A>G						HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	p.K51K	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	468	+	Lung NSC(77;0.107)|Renal(3;0.122)		51			Extracellular (Potential).		Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.153A>G	CCDS4956.1																																																																																				0.557	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			28	100	0	0	0	0.00632	0	28	100				
BVES	11149	broad.mit.edu	37	6	105564592	105564592	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:105564592G>T	ENST00000314641.5	-	6	1016	c.800C>A	c.(799-801)cCc>cAc	p.P267H	BVES_ENST00000446408.2_Missense_Mutation_p.P267H|BVES_ENST00000336775.5_Missense_Mutation_p.P267H	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	267					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTAAGGTGGGATCATTCAA	0.274																																							uc003pqw.2		NA																	0					0						c.(799-801)CCC>CAC		blood vessel epicardial substance isoform 5							70.0	65.0	67.0					6																	105564592		2202	4296	6498	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105564592G>T	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.800C>A	6.37:g.105564592G>T	ENSP00000313172:p.Pro267His					BVES_uc003pqx.2_Missense_Mutation_p.P267H|BVES_uc003pqy.2_Missense_Mutation_p.P267H	p.P267H	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			6	957	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	267			Cytoplasmic (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.800C>A	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439905	0.83885	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.30182	1.54;1.54;1.54	5.55	5.55	0.83447	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.13388	-1.0511	10	0.51188	T	0.08	-14.26	19.8622	0.96787	0.0:0.0:1.0:0.0	.	267	Q8NE79	POPD1_HUMAN	H	267	ENSP00000313172:P267H;ENSP00000337259:P267H;ENSP00000397310:P267H	ENSP00000313172:P267H	P	-	2	0	BVES	105671285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.769000	0.95229	0.650000	0.86243	CCC		0.274	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		13	30	1	0	4.3838e-07	0.001855	5.02413e-07	13	30				
PHACTR2	9749	broad.mit.edu	37	6	144086516	144086516	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:144086516A>G	ENST00000427704.2	+	6	910	c.780A>G	c.(778-780)acA>acG	p.T260T	PHACTR2_ENST00000440869.2_Silent_p.T271T|PHACTR2_ENST00000305766.6_Silent_p.T180T|PHACTR2_ENST00000367584.4_Silent_p.T248T|PHACTR2_ENST00000367582.3_Silent_p.T191T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	260							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAGCAGGGACAGTGGGGACCA	0.488																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3		NA																	0				ovary(2)	2						c.(778-780)ACA>ACG		phosphatase and actin regulator 2 isoform 3							91.0	95.0	94.0					6																	144086516		2005	4179	6184	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086516A>G	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.780A>G	6.37:g.144086516A>G						PHACTR2_uc010khh.2_Silent_p.T180T|PHACTR2_uc010khi.2_Silent_p.T271T|PHACTR2_uc003qjr.3_Silent_p.T191T	p.T260T	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	910	+			260					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.780A>G	CCDS47492.1																																																																																				0.488	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		23	59	0	0	0	0.014323	0	23	59				
SYNE1	23345	broad.mit.edu	37	6	152577782	152577782	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:152577782T>C	ENST00000367255.5	-	102	19692	c.19091A>G	c.(19090-19092)gAg>gGg	p.E6364G	SYNE1_ENST00000265368.4_Missense_Mutation_p.E6364G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6293G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5976G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E888G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6293G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6364					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGAAACCTCCTCGAAGGC	0.468										HNSCC(10;0.0054)																													uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19090-19092)GAG>GGG		spectrin repeat containing, nuclear envelope 1							137.0	114.0	122.0					6																	152577782		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152577782T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19091A>G	6.37:g.152577782T>C	ENSP00000356224:p.Glu6364Gly	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E888G|SYNE1_uc003qos.3_Missense_Mutation_p.E888G|SYNE1_uc003qot.3_Missense_Mutation_p.E6293G|SYNE1_uc003qou.3_Missense_Mutation_p.E6364G	p.E6364G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	102	19693	-		Ovarian(120;0.0955)	6364			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19091A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729274	0.48833	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.52;0.64;2.5	5.52	5.52	0.82312	.	0.097389	0.44483	D	0.000451	T	0.34193	0.0889	L	0.47716	1.5	0.43018	D	0.994564	B;B;B	0.18310	0.016;0.016;0.027	B;B;B	0.15484	0.006;0.006;0.013	T	0.22103	-1.0226	10	0.45353	T	0.12	.	15.9389	0.79739	0.0:0.0:0.0:1.0	.	6364;6364;6293	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	6364;6293;6364;6293;5976;888	ENSP00000356224:E6364G;ENSP00000396024:E6293G;ENSP00000265368:E6364G;ENSP00000390975:E6293G;ENSP00000341887:E5976G;ENSP00000349276:E888G	ENSP00000265368:E6364G	E	-	2	0	SYNE1	152619475	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	6.007000	0.70731	2.232000	0.73038	0.528000	0.53228	GAG		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	41	0	0	0	0.004482	0	9	41				
MLLT4	4301	broad.mit.edu	37	6	168265254	168265254	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:168265254G>T	ENST00000447894.2	+	2	129	c.129G>T	c.(127-129)atG>atT	p.M43I	MLLT4_ENST00000392108.3_Missense_Mutation_p.M43I|MLLT4_ENST00000351017.4_Missense_Mutation_p.M43I|MLLT4_ENST00000344191.4_Missense_Mutation_p.M43I|MLLT4_ENST00000366806.2_Missense_Mutation_p.M43I|MLLT4_ENST00000392112.1_Missense_Mutation_p.M43I|MLLT4_ENST00000400822.3_Missense_Mutation_p.M43I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	43	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATGGAGTGATGAGATTTTATT	0.358			T	MLL	AL																																		uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(127-129)ATG>ATT		myeloid/lymphoid or mixed-lineage leukemia							196.0	219.0	211.0					6																	168265254		2203	4297	6500	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265254G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.129G>T	6.37:g.168265254G>T	ENSP00000404595:p.Met43Ile					MLLT4_uc003qwb.1_Missense_Mutation_p.M43I|MLLT4_uc003qwc.1_Missense_Mutation_p.M43I	p.M43I	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	271	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	43			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.129G>T		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716125	0.89205	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	L	0.29908	0.895	0.80722	D	1	D;D;P	0.76494	0.993;0.999;0.845	D;D;P	0.81914	0.981;0.995;0.821	T	0.02047	-1.1223	10	0.72032	D	0.01	-38.241	20.3214	0.98679	0.0:0.0:1.0:0.0	.	43;43;43	P55196-5;P55196-6;P55196-2	.;.;.	I	43	ENSP00000383626:M43I;ENSP00000341118:M43I;ENSP00000252692:M43I;ENSP00000375956:M43I;ENSP00000355771:M43I;ENSP00000375960:M43I;ENSP00000383625:M43I;ENSP00000383623:M43I;ENSP00000404595:M43I	ENSP00000345834:M43I	M	+	3	0	MLLT4	168008103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.239000	0.95389	2.804000	0.96469	0.655000	0.94253	ATG		0.358	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		77	218	1	0	3.20846e-33	0.01441	4.63109e-33	77	218				
TNRC18	84629	broad.mit.edu	37	7	5410417	5410417	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:5410417C>T	ENST00000430969.1	-	11	4156	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M	TNRC18_ENST00000399537.4_Missense_Mutation_p.V1270M	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1270							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTCCACCACGGGCACCGCC	0.701																																							uc003soi.3		NA																	0					0						c.(3808-3810)GTG>ATG		trinucleotide repeat containing 18							7.0	10.0	9.0					7																	5410417		2073	4187	6260	SO:0001583	missense	84629						DNA binding	g.chr7:5410417C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3808G>A	7.37:g.5410417C>T	ENSP00000395538:p.Val1270Met						p.V1270M	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4157	-		Ovarian(82;0.142)	1270					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3808G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389765	0.11581	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12147	2.71;2.71	3.63	-3.64	0.04515	.	0.767664	0.10756	N	0.637750	T	0.05090	0.0136	N	0.05124	-0.11	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.37314	-0.9711	10	0.32370	T	0.25	.	5.7776	0.18287	0.0:0.4764:0.126:0.3975	.	1270	O15417	TNC18_HUMAN	M	1270;1270;325;325	ENSP00000382452:V1270M;ENSP00000395538:V1270M	ENSP00000330383:V325M	V	-	1	0	TNRC18	5376943	0.000000	0.05858	0.010000	0.14722	0.671000	0.39405	-3.022000	0.00642	-0.750000	0.04740	0.462000	0.41574	GTG		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	9	0	0	0	0.009096	0	4	9				
PDE1C	5137	broad.mit.edu	37	7	31862700	31862701	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:31862700_31862701GG>TA	ENST00000396191.1	-	14	2023_2024	c.1568_1569CC>TA	c.(1567-1569)gCC>gTA	p.A523V	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.A523V|PDE1C_ENST00000396193.1_Missense_Mutation_p.A583V|PDE1C_ENST00000321453.7_Missense_Mutation_p.A523V|PDE1C_ENST00000396184.3_Missense_Mutation_p.A523V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	523					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGGTACCTTGGCCCTCCATCT	0.455																																							uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1567-1569)GCC>GTA		phosphodiesterase 1C																																				SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862700_31862701GG>TA	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1568_1569delinsTA	7.37:g.31862700_31862701delinsTA	ENSP00000379494:p.Ala523Val					PDE1C_uc003tcn.1_Missense_Mutation_p.A523V|PDE1C_uc003tco.1_Missense_Mutation_p.A583V|PDE1C_uc003tcr.2_Missense_Mutation_p.A523V|PDE1C_uc003tcs.2_Missense_Mutation_p.A523V	p.A523V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2037_2038	-			523					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	DNP	ENST00000396191.1	37	c.1568_1569CC>TA	CCDS55099.1																																																																																				0.455	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			28	89	0	0	0	0.004672	0	28	89				
EEPD1	80820	broad.mit.edu	37	7	36338768	36338768	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:36338768G>A	ENST00000242108.4	+	8	2381	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	EEPD1_ENST00000534978.1_Missense_Mutation_p.G555R	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	555					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAACGGCAGCGGGGTGGCCTT	0.592																																							uc003tfa.2		NA																	0					0						c.(1663-1665)GGG>AGG		endonuclease/exonuclease/phosphatase family							79.0	67.0	71.0					7																	36338768		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36338768G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1663G>A	7.37:g.36338768G>A	ENSP00000242108:p.Gly555Arg						p.G555R	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			8	2303	+			555					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1663G>A	CCDS34619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.126268|3.126268	0.56721|0.56721	.|.	.|.	ENSG00000122547|ENSG00000122547	ENST00000242108;ENST00000534978|ENST00000444777	D;D|.	0.95272|.	-3.66;-3.66|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Endonuclease/exonuclease/phosphatase (1);|.	0.116839|.	0.64402|.	D|.	0.000017|.	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.27053|0.27053	0.805|0.805	0.50632|0.50632	D|D	0.999885|0.999885	B|.	0.14012|.	0.009|.	B|.	0.10450|.	0.005|.	T|T	0.50432|0.50432	-0.8829|-0.8829	10|5	0.72032|.	D|.	0.01|.	-35.5026|-35.5026	17.3599|17.3599	0.87347|0.87347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	555|.	Q7L9B9|.	EEPD1_HUMAN|.	R|Q	555|19	ENSP00000242108:G555R;ENSP00000442692:G555R|.	ENSP00000242108:G555R|.	G|R	+|+	1|2	0|0	EEPD1|EEPD1	36305293|36305293	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.827000|0.827000	0.46813|0.46813	4.269000|4.269000	0.58890|0.58890	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.592	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		18	29	0	0	0	0.007413	0	18	29				
PKD1L1	168507	broad.mit.edu	37	7	47970761	47970761	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:47970761T>A	ENST00000289672.2	-	6	727	c.677A>T	c.(676-678)cAg>cTg	p.Q226L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	226					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGCTGGTCTGAGTGGGTCT	0.607																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(676-678)CAG>CTG		polycystin-1L1							60.0	61.0	61.0					7																	47970761		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47970761T>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.677A>T	7.37:g.47970761T>A	ENSP00000289672:p.Gln226Leu						p.Q226L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			6	677	-			226			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.677A>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	0.121	-1.125969	0.01770	.	.	ENSG00000158683	ENST00000289672	T	0.21734	1.99	3.16	0.582	0.17412	.	11.487200	0.00166	N	0.000001	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.55011	0.766	T	0.09684	-1.0663	10	0.41790	T	0.15	-2.5713	3.5991	0.08018	0.0:0.1269:0.2272:0.646	.	226	Q8TDX9	PK1L1_HUMAN	L	226	ENSP00000289672:Q226L	ENSP00000289672:Q226L	Q	-	2	0	PKD1L1	47937286	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	-0.094000	0.11094	0.114000	0.18032	0.477000	0.44152	CAG		0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		18	43	0	0	0	0.00278	0	18	43				
HGF	3082	broad.mit.edu	37	7	81336617	81336617	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:81336617A>C	ENST00000222390.5	-	14	1831	c.1605T>G	c.(1603-1605)tgT>tgG	p.C535W	HGF_ENST00000457544.2_Missense_Mutation_p.C530W	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	535	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAGAAGGGAAACACTGTCGTG	0.338																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1603-1605)TGT>TGG		hepatocyte growth factor isoform 1							93.0	90.0	91.0					7																	81336617		2202	4300	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81336617A>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1605T>G	7.37:g.81336617A>C	ENSP00000222390:p.Cys535Trp					HGF_uc003uhm.2_Missense_Mutation_p.C530W	p.C535W	NM_000601	NP_000592	P14210	HGF_HUMAN			14	1770	-			535			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1605T>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079422	0.55753	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.94184	-3.37;-3.37	5.57	3.2	0.36748	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96268	0.9196	10	0.87932	D	0	.	8.9417	0.35733	0.7229:0.0:0.2771:0.0	.	530;535	P14210-3;P14210	.;HGF_HUMAN	W	535;530	ENSP00000222390:C535W;ENSP00000391238:C530W	ENSP00000222390:C535W	C	-	3	2	HGF	81174553	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.681000	0.37618	0.485000	0.27652	0.477000	0.44152	TGT		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		13	25	0	0	0	0.001855	0	13	25				
PCLO	27445	broad.mit.edu	37	7	82389981	82389981	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82389981G>A	ENST00000333891.9	-	24	15599	c.15262C>T	c.(15262-15264)Cta>Tta	p.L5088L		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGGACTTAGACTGAATCGA	0.323																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(15262-15264)CTA>TTA		piccolo isoform 1							129.0	128.0	129.0					7																	82389981		1829	4071	5900	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82389981G>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.15262C>T	7.37:g.82389981G>A							p.L5088L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			24	15551	-			5011			C2 2.			Silent	SNP	ENST00000333891.9	37	c.15262C>T	CCDS47630.1																																																																																				0.323	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		19	40	0	0	0	0.012319	0	19	40				
PCLO	27445	broad.mit.edu	37	7	82476456	82476456	+	Splice_Site	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82476456G>A	ENST00000333891.9	-	11	14099	c.13762C>T	c.(13762-13764)Ctg>Ttg	p.L4588L	PCLO_ENST00000426442.2_Intron|PCLO_ENST00000423517.2_Splice_Site_p.L4588L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAACTCACAGTCTTACACAT	0.353																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(13762-13764)CTG>TTG		piccolo isoform 1							112.0	108.0	109.0					7																	82476456		1854	4091	5945	SO:0001630	splice_region_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82476456G>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.13763+1C>T	7.37:g.82476456G>A						PCLO_uc003uhv.2_Silent_p.L4588L|PCLO_uc003uht.1_Silent_p.L39L|PCLO_uc003uhu.1_Intron	p.L4588L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			11	14051	-			4476			PDZ.			Silent	SNP	ENST00000333891.9	37	c.13762C>T	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Silent	3	13	0	0	0	0.009096	0	3	13				
PCLO	27445	broad.mit.edu	37	7	82544659	82544659	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82544659C>A	ENST00000333891.9	-	7	12980	c.12643G>T	c.(12643-12645)Gat>Tat	p.D4215Y	PCLO_ENST00000437081.1_Missense_Mutation_p.D935Y|PCLO_ENST00000423517.2_Missense_Mutation_p.D4215Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGAATAATCAGGTTCAAGG	0.373																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(12643-12645)GAT>TAT		piccolo isoform 1							55.0	51.0	52.0					7																	82544659		1839	4093	5932	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.chr7:82544659C>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.12643G>T	7.37:g.82544659C>A	ENSP00000334319:p.Asp4215Tyr					PCLO_uc003uhv.2_Missense_Mutation_p.D4215Y|PCLO_uc010lec.2_Missense_Mutation_p.D1180Y	p.D4215Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12932	-			4146						Missense_Mutation	SNP	ENST00000333891.9	37	c.12643G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391071	0.62066	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.37752	1.18;1.19	5.92	5.92	0.95590	.	.	.	.	.	T	0.64103	0.2568	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.972;0.996;0.996	T	0.64879	-0.6303	9	0.87932	D	0	.	20.3167	0.98654	0.0:1.0:0.0:0.0	.	4146;4215;4215	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Y	4215;4215;935	ENSP00000334319:D4215Y;ENSP00000388393:D4215Y	ENSP00000334319:D4215Y	D	-	1	0	PCLO	82382595	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.809000	0.96659	0.557000	0.71058	GAT		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	26	1	0	0.00244969	0.00245	0.00261187	13	26				
LMTK2	22853	broad.mit.edu	37	7	97784092	97784092	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:97784092C>T	ENST00000297293.5	+	5	766	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGATTTACACGGGCACTAGC	0.388																																							uc003upd.1		NA																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(472-474)ACG>ATG		lemur tyrosine kinase 2 precursor							148.0	143.0	145.0					7																	97784092		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97784092C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.473C>T	7.37:g.97784092C>T	ENSP00000297293:p.Thr158Met						p.T158M	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			5	766	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		158			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.473C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737235	0.69304	.	.	ENSG00000164715	ENST00000297293	T	0.66099	-0.19	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050811	0.85682	D	0.000000	T	0.69886	0.3161	L	0.38692	1.165	0.40485	D	0.980481	D	0.89917	1.0	D	0.77557	0.99	T	0.73119	-0.4083	10	0.87932	D	0	.	12.5184	0.56046	0.0:0.832:0.168:0.0	.	158	Q8IWU2	LMTK2_HUMAN	M	158	ENSP00000297293:T158M	ENSP00000297293:T158M	T	+	2	0	LMTK2	97622028	0.998000	0.40836	0.981000	0.43875	0.907000	0.53573	4.050000	0.57404	2.548000	0.85928	0.467000	0.42956	ACG		0.388	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		27	90	0	0	0	0.013726	0	27	90				
MUC17	140453	broad.mit.edu	37	7	100680373	100680373	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:100680373T>A	ENST00000306151.4	+	3	5740	c.5676T>A	c.(5674-5676)gcT>gcA	p.A1892A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1892	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCCGCTGTCACCAGCA	0.512																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5674-5676)GCT>GCA		mucin 17 precursor							240.0	253.0	248.0					7																	100680373		2196	4300	6496	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680373T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5676T>A	7.37:g.100680373T>A						MUC17_uc010lho.1_RNA	p.A1892A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5729	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1892			Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.5676T>A	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		119	268	0	0	0	0.01441	0	119	268				
SH2B2	10603	broad.mit.edu	37	7	101957824	101957824	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:101957824G>A	ENST00000536178.1	+	8	1513	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	SH2B2_ENST00000306803.8_Missense_Mutation_p.E452K			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	453	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCGGCCTGGGGAGTACGTGCT	0.657																																							uc011kko.1		NA																	0					0						c.(1486-1488)GAG>AAG		SH2B adaptor protein 2							26.0	28.0	28.0					7																	101957824		2028	4175	6203	SO:0001583	missense	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101957824G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1468G>A	7.37:g.101957824G>A	ENSP00000440273:p.Glu490Lys						p.E496K	NM_020979	NP_066189	O14492	SH2B2_HUMAN			5	1531	+			453			SH2.		A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37	c.1486G>A		.	.	.	.	.	.	.	.	.	.	.	35	5.478373	0.96291	.	.	ENSG00000160999	ENST00000536178;ENST00000306803	D;T	0.88896	-2.44;1.32	4.66	4.66	0.58398	SH2 motif (5);	0.113114	0.64402	D	0.000014	D	0.93818	0.8023	M	0.72118	2.19	0.43000	D	0.994515	D	0.89917	1.0	D	0.83275	0.996	D	0.94529	0.7734	9	0.87932	D	0	-35.5315	16.7203	0.85409	0.0:0.0:1.0:0.0	.	453	O14492	SH2B2_HUMAN	K	490;452	ENSP00000440273:E490K;ENSP00000304701:E452K	ENSP00000304701:E452K	E	+	1	0	SH2B2	101744544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.247000	0.95444	2.415000	0.81967	0.561000	0.74099	GAG		0.657	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		6	10	0	0	0	0.00308	0	6	10				
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103131239G>T	ENST00000428762.1	-	59	9640	c.9481C>A	c.(9481-9483)Cct>Act	p.P3161T	RELN_ENST00000343529.5_Missense_Mutation_p.P3161T|RELN_ENST00000424685.2_Missense_Mutation_p.P3161T|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3161					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9481-9483)CCT>ACT		reelin isoform a							105.0	96.0	99.0					7																	103131239		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.chr7:103131239G>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.9481C>A	7.37:g.103131239G>T	ENSP00000392423:p.Pro3161Thr					RELN_uc010liz.2_Missense_Mutation_p.P3161T	p.P3161T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	59	9641	-			3161					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9481C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907868	0.72868	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.39406	1.08;1.08;1.08	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.992	T	0.70174	-0.4944	10	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	3161;3161	P78509-2;P78509	.;RELN_HUMAN	T	3161;3161;3161;678;3161	ENSP00000392423:P3161T;ENSP00000345694:P3161T;ENSP00000388446:P3161T	ENSP00000345694:P3161T	P	-	1	0	RELN	102918475	1.000000	0.71417	0.985000	0.45067	0.394000	0.30568	9.209000	0.95087	2.591000	0.87537	0.650000	0.86243	CCT		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	31	1	0	4.3838e-07	0.001855	5.02413e-07	13	31				
RELN	5649	broad.mit.edu	37	7	103301870	103301870	+	Missense_Mutation	SNP	G	G	T	rs111409626		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103301870G>T	ENST00000428762.1	-	12	1553	c.1394C>A	c.(1393-1395)tCc>tAc	p.S465Y	RELN_ENST00000424685.2_Missense_Mutation_p.S465Y|RELN_ENST00000343529.5_Missense_Mutation_p.S465Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	465					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGTCCATGGATGGAGTGCA	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1393-1395)TCC>TAC		reelin isoform a							186.0	129.0	148.0					7																	103301870		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.chr7:103301870G>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.1394C>A	7.37:g.103301870G>T	ENSP00000392423:p.Ser465Tyr					RELN_uc010liz.2_Missense_Mutation_p.S465Y	p.S465Y	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	12	1554	-			465					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1394C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	g	3.620	-0.077746	0.07184	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.17854	2.25;2.25;2.25	5.3	2.91	0.33838	.	0.132940	0.52532	N	0.000068	T	0.05823	0.0152	N	0.01352	-0.895	0.23624	N	0.997263	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32161	-0.9917	10	0.51188	T	0.08	.	8.7581	0.34658	0.1265:0.0:0.135:0.7384	.	465;465	P78509-2;P78509	.;RELN_HUMAN	Y	465	ENSP00000392423:S465Y;ENSP00000345694:S465Y;ENSP00000388446:S465Y	ENSP00000345694:S465Y	S	-	2	0	RELN	103089106	1.000000	0.71417	0.390000	0.26220	0.137000	0.21094	3.855000	0.55957	0.336000	0.23639	-1.715000	0.00711	TCC		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	45	1	0	0.00198382	0.001984	0.00212255	6	45				
OPN1SW	611	broad.mit.edu	37	7	128415840	128415840	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:128415840C>G	ENST00000249389.2	-	1	4	c.5G>C	c.(4-6)aGa>aCa	p.R2T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	2					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CGACATTTTTCTCATGGATGC	0.507																																							uc003vnt.3		NA																	0					0						c.(4-6)AGA>ACA		opsin 1 (cone pigments), short-wave-sensitive							27.0	30.0	29.0					7																	128415840		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415840C>G	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.5G>C	7.37:g.128415840C>G	ENSP00000249389:p.Arg2Thr						p.R2T	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	5	-			2			Extracellular (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.5G>C	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	3.269	-0.149540	0.06585	.	.	ENSG00000128617	ENST00000249389	T	0.68331	-0.32	4.9	2.07	0.26955	.	0.915689	0.09191	N	0.835938	T	0.46112	0.1376	N	0.08118	0	0.24240	N	0.99537	B	0.13594	0.008	B	0.09377	0.004	T	0.39292	-0.9621	10	0.87932	D	0	.	8.5078	0.33197	0.0:0.74:0.0:0.26	.	2	P03999	OPSB_HUMAN	T	2	ENSP00000249389:R2T	ENSP00000249389:R2T	R	-	2	0	OPN1SW	128203076	0.394000	0.25246	0.038000	0.18304	0.216000	0.24613	0.713000	0.25794	0.251000	0.21505	0.561000	0.74099	AGA		0.507	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		4	19	0	0	0	0.009096	0	4	19				
TRPV6	55503	broad.mit.edu	37	7	142573427	142573427	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:142573427G>T	ENST00000359396.3	-	8	1161	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	306					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCCAGGATCTGGCGAGCCTGC	0.602																																							uc003wbx.1		NA																	0				ovary(2)	2						c.(916-918)CAG>AAG		transient receptor potential cation channel,							63.0	66.0	65.0					7																	142573427		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573427G>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.916C>A	7.37:g.142573427G>T	ENSP00000352358:p.Gln306Lys					TRPV6_uc003wbw.1_Missense_Mutation_p.Q92K|TRPV6_uc010lou.1_Missense_Mutation_p.Q177K	p.Q306K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			8	1132	-	Melanoma(164;0.059)		306			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.916C>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457949	0.26161	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.42131	0.98	4.71	4.71	0.59529	.	0.356408	0.33144	N	0.005224	T	0.38241	0.1033	L	0.58583	1.82	0.32215	N	0.575955	B	0.06786	0.001	B	0.08055	0.003	T	0.41875	-0.9484	10	0.30078	T	0.28	-9.418	12.0192	0.53333	0.0:0.0:0.8276:0.1724	.	306	Q9H1D0	TRPV6_HUMAN	K	306;138	ENSP00000352358:Q306K	ENSP00000310825:Q138K	Q	-	1	0	TRPV6	142283549	0.835000	0.29415	1.000000	0.80357	0.834000	0.47266	3.058000	0.49939	2.458000	0.83093	0.655000	0.94253	CAG		0.602	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		37	56	1	0	3.76114e-14	0.004289	4.89748e-14	37	56				
CLCN1	1180	broad.mit.edu	37	7	143048757	143048757	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:143048757A>G	ENST00000343257.2	+	23	2753	c.2666A>G	c.(2665-2667)aAc>aGc	p.N889S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	889					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGCTTCCGGAACACGACTTCA	0.592																																							uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2665-2667)AAC>AGC		chloride channel 1, skeletal muscle							45.0	42.0	43.0					7																	143048757		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048757A>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2666A>G	7.37:g.143048757A>G	ENSP00000339867:p.Asn889Ser					CLCN1_uc011ktc.1_Missense_Mutation_p.N501S	p.N889S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			23	2753	+	Melanoma(164;0.205)		889			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2666A>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	6.772	0.511355	0.12944	.	.	ENSG00000188037	ENST00000343257	D	0.84660	-1.88	4.8	-2.61	0.06171	.	0.387667	0.27841	N	0.017624	T	0.68760	0.3036	N	0.17474	0.49	0.32127	N	0.587226	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.001	T	0.54781	-0.8242	10	0.30854	T	0.27	.	9.5837	0.39504	0.5929:0.0:0.4071:0.0	.	88;889	Q75L28;P35523	.;CLCN1_HUMAN	S	889	ENSP00000339867:N889S	ENSP00000339867:N889S	N	+	2	0	CLCN1	142758879	0.460000	0.25776	0.022000	0.16811	0.346000	0.29079	1.174000	0.31932	-0.659000	0.05359	0.459000	0.35465	AAC		0.592	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		14	37	0	0	0	0.001855	0	14	37				
SSPO	23145	broad.mit.edu	37	7	149494420	149494420	+	RNA	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:149494420C>T	ENST00000378016.2	+	0	6891							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTGCTGCACTGGCCCAGGG	0.657																																							uc010lpk.2		NA																	0					0						c.(6889-6891)CAC>CAT		SCO-spondin precursor							42.0	48.0	46.0					7																	149494420		2005	4164	6169			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149494420C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494420C>T							p.H2297H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		47	6891	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2297					Q76B61	Silent	SNP	ENST00000378016.2	37	c.6891C>T																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				18	36	0	0	0	0.006122	0	18	36				
KMT2C	58508	broad.mit.edu	37	7	151851382	151851382	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151851382T>G	ENST00000262189.6	-	47	12327	c.12109A>C	c.(12109-12111)Att>Ctt	p.I4037L	KMT2C_ENST00000355193.2_Missense_Mutation_p.I4094L|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4037					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)										AGAATTGGAATGATGGGGGAC	0.443																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12109-12111)ATT>CTT		myeloid/lymphoid or mixed-lineage leukemia 3							110.0	113.0	112.0					7																	151851382		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151851382T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12109A>C	7.37:g.151851382T>G	ENSP00000262189:p.Ile4037Leu					MLL3_uc003wkz.2_Missense_Mutation_p.I3155L|MLL3_uc003wkx.2_Missense_Mutation_p.I195L|MLL3_uc003wky.2_Missense_Mutation_p.I1601L	p.I4037L	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)	47	12328	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4037					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12109A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.62|15.62	2.888789|2.888789	0.52014|0.52014	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061	.|D;D;D	.|0.93133	.|-2.5;-2.46;-3.17	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.42821	.|U	.|0.000657	D|D	0.92459|0.92459	0.7606|0.7606	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.35155	.|0.43;0.183;0.487	.|B;B;B	.|0.39339	.|0.297;0.069;0.122	D|D	0.91646|0.91646	0.5331|0.5331	5|10	.|0.39692	.|T	.|0.17	.|.	15.868|15.868	0.79080|0.79080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|4037;3155;4094	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	P|L	1597|4037;4094;654;163	.|ENSP00000262189:I4037L;ENSP00000347325:I4094L;ENSP00000410411:I654L	.|ENSP00000262189:I4037L	H|I	-|-	2|1	0|0	MLL3|MLL3	151482315|151482315	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.992000|0.992000	0.81027|0.81027	4.915000|4.915000	0.63355|0.63355	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			23	55	0	0	0	0.014323	0	23	55				
KMT2C	58508	broad.mit.edu	37	7	151962183	151962183	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151962183A>C	ENST00000262189.6	-	8	1342	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	KMT2C_ENST00000355193.2_Missense_Mutation_p.V375G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	375					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)										TAATGGAGTAACCGCTATATC	0.448																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1123-1125)GTT>GGT		myeloid/lymphoid or mixed-lineage leukemia 3							497.0	442.0	460.0					7																	151962183		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962183A>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.1124T>G	7.37:g.151962183A>C	ENSP00000262189:p.Val375Gly						p.V375G	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)	8	1343	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	375			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1124T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204596	0.22205	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98958	-5.27;-5.27	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.203382	0.23918	U	0.043277	D	0.98349	0.9452	M	0.76170	2.325	0.80722	D	1	D	0.64830	0.994	P	0.52109	0.69	D	0.98139	1.0435	10	0.40728	T	0.16	.	14.395	0.67005	1.0:0.0:0.0:0.0	.	375	Q8NEZ4	MLL3_HUMAN	G	375	ENSP00000262189:V375G;ENSP00000347325:V375G	ENSP00000262189:V375G	V	-	2	0	MLL3	151593116	1.000000	0.71417	0.992000	0.48379	0.034000	0.12701	4.542000	0.60677	1.843000	0.53566	0.455000	0.32223	GTT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	352	0	0	0	0.001168	0	5	352				
KMT2C	58508	broad.mit.edu	37	7	151962209	151962209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151962209A>C	ENST00000262189.6	-	8	1316	c.1098T>G	c.(1096-1098)taT>taG	p.Y366*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Y366*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	366					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)										ACATTCCATGATAGTGCTGAC	0.448																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0		p.Y366S(1)		large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1096-1098)TAT>TAG		myeloid/lymphoid or mixed-lineage leukemia 3							402.0	360.0	374.0					7																	151962209		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962209A>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.1098T>G	7.37:g.151962209A>C	ENSP00000262189:p.Tyr366*						p.Y366*	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)	8	1317	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	366			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.1098T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	34	5.369251	0.95900	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.65	1.97	0.26223	.	0.000000	0.38111	U	0.001814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0417	0.14462	0.4348:0.0:0.5652:0.0	.	.	.	.	X	366	.	ENSP00000262189:Y366X	Y	-	3	2	MLL3	151593142	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.688000	0.46984	0.740000	0.32651	0.455000	0.32223	TAT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	292	0	0	0	0.004482	0	5	292				
FGF17	8822	broad.mit.edu	37	8	21905620	21905620	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:21905620G>A	ENST00000359441.3	+	5	1014	c.511G>A	c.(511-513)Gag>Aag	p.E171K	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.E160K	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	171					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAACCAGCGCGAGGCCCACTT	0.682																																							uc003xag.2		NA																	0					0						c.(511-513)GAG>AAG		fibroblast growth factor 17 precursor							25.0	26.0	26.0					8																	21905620		2203	4300	6503	SO:0001583	missense	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21905620G>A	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.511G>A	8.37:g.21905620G>A	ENSP00000352414:p.Glu171Lys					FGF17_uc003xah.2_Missense_Mutation_p.E160K|FGF17_uc003xai.2_Missense_Mutation_p.E194K	p.E171K	NM_003867	NP_003858	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	5	523	+			171					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.511G>A	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014975	0.54468	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.81163	-1.46;-1.46	5.06	4.17	0.49024	.	0.059974	0.64402	D	0.000004	T	0.78457	0.4286	M	0.85373	2.75	0.53688	D	0.99997	B;P	0.39759	0.125;0.687	B;B	0.36186	0.027;0.219	T	0.75863	-0.3167	10	0.18276	T	0.48	-31.4832	10.5159	0.44889	0.0947:0.0:0.9053:0.0	.	160;171	O60258-2;O60258	.;FGF17_HUMAN	K	160;171	ENSP00000431041:E160K;ENSP00000352414:E171K	ENSP00000352414:E171K	E	+	1	0	FGF17	21961566	1.000000	0.71417	0.814000	0.32528	0.092000	0.18411	7.394000	0.79862	2.362000	0.80069	0.655000	0.94253	GAG		0.682	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867		7	14	0	0	0	0.00308	0	7	14				
TRPA1	8989	broad.mit.edu	37	8	72964964	72964964	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:72964964C>A	ENST00000262209.4	-	14	1888	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	561					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A561T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACGGCTTTGGCGTGGCCTTCC	0.468																																							uc003xza.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1681-1683)GCC>TCC		ankyrin-like protein 1	Menthol(DB00825)						144.0	122.0	129.0					8																	72964964		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964964C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1681G>T	8.37:g.72964964C>A	ENSP00000262209:p.Ala561Ser					uc011lff.1_RNA|uc003xyy.2_RNA	p.A561S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1856	-			561			Cytoplasmic (Potential).|ANK 14.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1681G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568293	0.65651	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64803	-0.12;-0.12	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.047663	0.85682	D	0.000000	T	0.69513	0.3119	L	0.46567	1.45	0.43250	D	0.995176	D	0.76494	0.999	D	0.74674	0.984	T	0.62886	-0.6759	10	0.09338	T	0.73	-4.8061	15.0441	0.71813	0.0:0.8574:0.1426:0.0	.	561	O75762	TRPA1_HUMAN	S	413;561	ENSP00000428151:A413S;ENSP00000262209:A561S	ENSP00000262209:A561S	A	-	1	0	TRPA1	73127518	0.985000	0.35326	0.992000	0.48379	0.439000	0.31926	2.548000	0.45794	2.466000	0.83321	0.585000	0.79938	GCC		0.468	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		75	98	1	0	7.62596e-35	0.01441	1.11653e-34	75	98				
LRRCC1	85444	broad.mit.edu	37	8	86048051	86048051	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:86048051A>C	ENST00000360375.3	+	14	2331	c.2182A>C	c.(2182-2184)Att>Ctt	p.I728L	LRRCC1_ENST00000414626.2_Missense_Mutation_p.I708L	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	728					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGAAATTTTAATTGAAGATGA	0.289																																							uc003ycw.2		NA																	0					0						c.(2182-2184)ATT>CTT		sodium channel associated protein 2 isoform a							52.0	49.0	50.0					8																	86048051		1792	4063	5855	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86048051A>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2182A>C	8.37:g.86048051A>C	ENSP00000353538:p.Ile728Leu					LRRCC1_uc010maa.1_Missense_Mutation_p.I429L|LRRCC1_uc003ycx.2_Missense_Mutation_p.I635L|LRRCC1_uc003ycy.2_Missense_Mutation_p.I708L	p.I728L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			14	2336	+			728					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2182A>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024293	0.35701	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.28895	1.59;1.59	5.91	4.77	0.60923	.	0.000000	0.41500	D	0.000861	T	0.15478	0.0373	N	0.16903	0.455	0.32545	N	0.533122	B;P;B;B	0.42518	0.041;0.782;0.264;0.041	B;B;B;B	0.41813	0.029;0.367;0.05;0.032	T	0.12734	-1.0536	10	0.02654	T	1	-11.4663	7.3181	0.26511	0.7885:0.0:0.2115:0.0	.	635;708;635;728	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	L	728;708	ENSP00000353538:I728L;ENSP00000394695:I708L	ENSP00000353538:I728L	I	+	1	0	LRRCC1	86235303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.676000	0.37565	2.263000	0.75096	0.528000	0.53228	ATT		0.289	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		7	108	0	0	0	0.001984	0	7	108				
SLC7A13	157724	broad.mit.edu	37	8	87229981	87229981	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87229981T>A	ENST00000297524.3	-	3	1000	c.897A>T	c.(895-897)ttA>ttT	p.L299F	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.L290F	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	299						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGTTGCTAAATAATGAGGTAG	0.373																																							uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(895-897)TTA>TTT		solute carrier family 7, (cationic amino acid							69.0	80.0	76.0					8																	87229981		2203	4299	6502	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229981T>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.897A>T	8.37:g.87229981T>A	ENSP00000297524:p.Leu299Phe					SLC7A13_uc003ydr.1_Missense_Mutation_p.L290F	p.L299F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	995	-			299			Helical; Name=8; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.897A>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589994	0.66105	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.91351	-2.83;-2.83	5.17	-2.23	0.06930	Amino acid permease domain (1);	0.593632	0.13910	N	0.354302	D	0.88351	0.6413	L	0.46157	1.445	0.09310	N	1	D;D	0.55800	0.965;0.973	P;P	0.53401	0.725;0.691	T	0.80311	-0.1436	10	0.66056	D	0.02	.	6.129	0.20195	0.0:0.3784:0.1721:0.4494	.	290;299	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	F	299;290	ENSP00000297524:L299F;ENSP00000410982:L290F	ENSP00000297524:L299F	L	-	3	2	SLC7A13	87299097	0.059000	0.20769	0.000000	0.03702	0.245000	0.25701	-0.115000	0.10741	-0.139000	0.11414	0.528000	0.53228	TTA		0.373	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		5	272	0	0	0	0.000602	0	5	272				
SLC7A13	157724	broad.mit.edu	37	8	87242275	87242275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87242275C>A	ENST00000297524.3	-	1	335	c.232G>T	c.(232-234)Gga>Tga	p.G78*	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Nonsense_Mutation_p.G78*	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	78						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TATTGAGCTCCACTGCATGGG	0.493																																							uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(232-234)GGA>TGA		solute carrier family 7, (cationic amino acid							65.0	62.0	63.0					8																	87242275		2203	4300	6503	SO:0001587	stop_gained	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242275C>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.232G>T	8.37:g.87242275C>A	ENSP00000297524:p.Gly78*					SLC7A13_uc003ydr.1_Nonsense_Mutation_p.G78*	p.G78*	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	330	-			78			Cytoplasmic (Potential).		Q05C37|Q08AH9|Q96N84	Nonsense_Mutation	SNP	ENST00000297524.3	37	c.232G>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173066	0.78452	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	.	.	.	3.68	2.81	0.32909	.	0.117452	0.37906	N	0.001888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.3094	0.37895	0.0:0.8912:0.0:0.1088	.	.	.	.	X	78	.	ENSP00000297524:G78X	G	-	1	0	SLC7A13	87311391	0.944000	0.32072	0.003000	0.11579	0.180000	0.23129	3.207000	0.51106	1.129000	0.42072	0.514000	0.50259	GGA		0.493	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		111	43	1	0	9.69585e-32	0.01441	1.38642e-31	111	43				
RUNX1T1	862	broad.mit.edu	37	8	92998504	92998504	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:92998504G>T	ENST00000523629.1	-	9	1581	c.1127C>A	c.(1126-1128)aCc>aAc	p.T376N	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T339N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T376N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T339N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T387N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T339N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	376	Important for oligomerization.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTTAGTACGGTGAGAGATCG	0.453																																							uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1126-1128)ACC>AAC		acute myelogenous leukemia 1 translocation 1							131.0	130.0	130.0					8																	92998504		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998504G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1127C>A	8.37:g.92998504G>T	ENSP00000428543:p.Thr376Asn					RUNX1T1_uc003yfc.1_Missense_Mutation_p.T349N|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T339N|RUNX1T1_uc010mao.2_Missense_Mutation_p.T349N|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T387N|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T339N	p.T376N	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1211	-			376			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1127C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296111	0.95574	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.968;0.993;0.996	P;D;D	0.70487	0.758;0.925;0.969	T	0.68938	-0.5277	10	0.72032	D	0.01	-15.2181	19.773	0.96379	0.0:0.0:1.0:0.0	.	387;376;349	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	N	376;349;376;339;339;339;387;349	ENSP00000428543:T376N;ENSP00000379520:T349N;ENSP00000265814:T376N;ENSP00000353504:T339N;ENSP00000390137:T339N;ENSP00000428742:T339N;ENSP00000402257:T387N;ENSP00000430728:T349N	ENSP00000265814:T376N	T	-	2	0	RUNX1T1	93067680	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	ACC		0.453	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		42	378	1	0	5.20006e-24	0.011902	7.23281e-24	42	378				
SNX31	169166	broad.mit.edu	37	8	101629862	101629862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:101629862C>A	ENST00000311812.2	-	5	568	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.E41*|KB-1083B1.1_ENST00000521625.1_RNA|KB-1083B1.1_ENST00000521535.1_RNA	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	140					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGGACTCTTTCAGCAGTGTCT	0.403																																							uc003yjr.2		NA																	0					0						c.(418-420)GAA>TAA		sorting nexin 31							130.0	125.0	127.0					8																	101629862		2202	4300	6502	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101629862C>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.418G>T	8.37:g.101629862C>A	ENSP00000312368:p.Glu140*					SNX31_uc011lhb.1_Nonsense_Mutation_p.E41*	p.E140*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		5	569	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		140					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.418G>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791080	0.90367	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	.	.	.	5.96	5.08	0.68730	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.5865	12.5019	0.55960	0.1671:0.8329:0.0:0.0	.	.	.	.	X	140;41;74	.	ENSP00000312368:E140X	E	-	1	0	SNX31	101699038	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	3.949000	0.56668	1.500000	0.48636	0.650000	0.86243	GAA		0.403	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		243	57	1	0	2.05815e-117	0.01441	3.13331e-117	243	57				
FAM135B	51059	broad.mit.edu	37	8	139380162	139380162	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:139380162A>C	ENST00000395297.1	-	2	235	c.65T>G	c.(64-66)cTc>cGc	p.L22R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	22										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTCTGAAAGAGATCCACATT	0.398										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(64-66)CTC>CGC		hypothetical protein LOC51059							133.0	127.0	129.0					8																	139380162		1868	4110	5978	SO:0001583	missense	51059							g.chr8:139380162A>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.65T>G	8.37:g.139380162A>C	ENSP00000378710:p.Leu22Arg	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.L22R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	236	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		22					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.65T>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280656	0.80692	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.52295	0.67	5.54	5.54	0.83059	.	0.000000	0.48767	U	0.000163	T	0.71099	0.3300	M	0.83774	2.66	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.76091	-0.3086	10	0.87932	D	0	-5.5976	14.7815	0.69772	1.0:0.0:0.0:0.0	.	22	Q49AJ0	F135B_HUMAN	R	22	ENSP00000378710:L22R	ENSP00000160713:L22R	L	-	2	0	FAM135B	139449344	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.594000	0.90836	2.234000	0.73211	0.459000	0.35465	CTC		0.398	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		40	192	0	0	0	0.00874	0	40	192				
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637																																							uc003ywf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(820-822)ACG>ATG		G protein-coupled receptor 20							61.0	47.0	52.0					8																	142367203		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367203G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.821C>T	8.37:g.142367203G>A	ENSP00000366970:p.Thr274Met						p.T274M	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	910	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		274			Extracellular (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.821C>T	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223515	0.09863	.	.	ENSG00000204882	ENST00000377741	T	0.72615	-0.67	4.84	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.532577	0.17861	U	0.159536	T	0.55049	0.1896	L	0.31207	0.915	0.09310	N	1	P	0.44344	0.833	B	0.42112	0.376	T	0.43360	-0.9396	10	0.35671	T	0.21	-0.627	6.1711	0.20418	0.4768:0.0:0.5232:0.0	.	274	Q99678	GPR20_HUMAN	M	274	ENSP00000366970:T274M	ENSP00000366970:T274M	T	-	2	0	GPR20	142436385	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	1.024000	0.30077	0.445000	0.26639	0.462000	0.41574	ACG		0.637	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		28	187	0	0	0	0.007291	0	28	187				
ZNF7	7553	broad.mit.edu	37	8	146067491	146067491	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:146067491C>A	ENST00000528372.1	+	5	1239	c.999C>A	c.(997-999)ccC>ccA	p.P333P	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.P333P|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.P237P|ZNF7_ENST00000446747.2_Silent_p.P344P			P17097	ZNF7_HUMAN	zinc finger protein 7	333					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAGAGAGGCCCTATGGTTGTC	0.542																																							uc003zeg.3		NA																	0				ovary(4)	4						c.(997-999)CCC>CCA		zinc finger protein 7							65.0	61.0	62.0					8																	146067491		2203	4300	6503	SO:0001819	synonymous_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146067491C>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.999C>A	8.37:g.146067491C>A						ZNF7_uc010mge.2_Silent_p.P344P|ZNF7_uc011lln.1_Silent_p.P237P|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.P237P|COMMD5_uc003zel.1_Intron	p.P333P	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	1136	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	333					B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	c.999C>A	CCDS6435.1																																																																																				0.542	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		4	180	1	0	0.00909568	0.009096	0.00946693	4	180				
PSIP1	11168	broad.mit.edu	37	9	15468839	15468839	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:15468839T>C	ENST00000380733.4	-	14	1552	c.1209A>G	c.(1207-1209)atA>atG	p.I403M	PSIP1_ENST00000380738.4_Missense_Mutation_p.I403M			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	403					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGAATCGCCGTATCTGAGAAA	0.299																																							uc003zlv.3		NA																	0				breast(1)	1						c.(1207-1209)ATA>ATG		PC4 and SFRS1 interacting protein 1 isoform 2							71.0	69.0	70.0					9																	15468839		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468839T>C	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1209A>G	9.37:g.15468839T>C	ENSP00000370109:p.Ile403Met					PSIP1_uc003zlw.3_Missense_Mutation_p.I403M	p.I403M	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	14	1539	-			403					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1209A>G	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436521	0.43224	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.56103	0.48;0.48	5.55	3.0	0.34707	.	0.088685	0.85682	D	0.000000	T	0.64638	0.2616	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64952	-0.6286	10	0.87932	D	0	.	7.0919	0.25289	0.2495:0.0:0.1318:0.6187	.	403	O75475	PSIP1_HUMAN	M	403	ENSP00000370109:I403M;ENSP00000370114:I403M	ENSP00000370109:I403M	I	-	3	3	PSIP1	15458839	0.997000	0.39634	1.000000	0.80357	0.800000	0.45204	0.218000	0.17622	1.003000	0.39130	0.528000	0.53228	ATA		0.299	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		18	19	0	0	0	0.008871	0	18	19				
SLC24A2	25769	broad.mit.edu	37	9	19577011	19577011	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:19577011C>A	ENST00000341998.2	-	5	1200	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R363I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	380					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGCCTTTTCTCTGAACCTCCC	0.517																																							uc003zoa.1		NA																	0				ovary(3)	3						c.(1138-1140)AGA>ATA		solute carrier family 24							156.0	138.0	144.0					9																	19577011		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19577011C>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1139G>T	9.37:g.19577011C>A	ENSP00000344801:p.Arg380Ile					SLC24A2_uc003zob.1_Missense_Mutation_p.R363I	p.R380I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1201	-			380			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1139G>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302491	0.60195	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75477	-0.93;-0.94	5.82	5.82	0.92795	.	0.051722	0.85682	D	0.000000	T	0.71710	0.3372	L	0.56769	1.78	0.80722	D	1	P;B	0.36048	0.534;0.399	B;B	0.38842	0.283;0.096	T	0.69510	-0.5126	9	.	.	.	.	12.9063	0.58154	0.0:0.922:0.0:0.078	.	363;380	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	380;363	ENSP00000344801:R380I;ENSP00000286344:R363I	.	R	-	2	0	SLC24A2	19567011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.246000	0.43142	2.755000	0.94549	0.591000	0.81541	AGA		0.517	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		27	57	1	0	3.80469e-20	0.009535	5.24431e-20	27	57				
NTRK2	4915	broad.mit.edu	37	9	87635146	87635146	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:87635146T>A	ENST00000323115.4	+	16	2503	c.2150T>A	c.(2149-2151)aTt>aAt	p.I717N	NTRK2_ENST00000277120.3_Missense_Mutation_p.I733N|NTRK2_ENST00000376214.1_Missense_Mutation_p.I733N|NTRK2_ENST00000376213.1_Missense_Mutation_p.I717N			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	717	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATGCTGCCCATTCGCTGGATG	0.582										TSP Lung(25;0.17)																													uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(2149-2151)ATT>AAT		neurotrophic tyrosine kinase, receptor, type 2							113.0	105.0	108.0					9																	87635146		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635146T>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2150T>A	9.37:g.87635146T>A	ENSP00000314586:p.Ile717Asn	TSP Lung(25;0.17)				NTRK2_uc004anz.1_Missense_Mutation_p.I733N	p.I717N	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			19	3088	+			717			Protein kinase.|Cytoplasmic (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.2150T>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	T	31	5.097734	0.94197	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92195	0.7525	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92873	0.6316	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	717;733	Q16620;Q16620-4	NTRK2_HUMAN;.	N	733;717;733;717	ENSP00000365387:I733N;ENSP00000365386:I717N;ENSP00000277120:I733N;ENSP00000314586:I717N	ENSP00000277120:I733N	I	+	2	0	NTRK2	86824966	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.033000	0.88852	2.333000	0.79357	0.533000	0.62120	ATT		0.582	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			37	85	0	0	0	0.00874	0	37	85				
GRIN3A	116443	broad.mit.edu	37	9	104432614	104432614	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:104432614G>T	ENST00000361820.3	-	3	2680	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	694					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CATTCATACAGAGTGAGGAAG	0.483																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2080-2082)CTG>ATG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						111.0	118.0	115.0					9																	104432614		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432614G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2080C>A	9.37:g.104432614G>T	ENSP00000355155:p.Leu694Met					GRIN3A_uc004bbq.1_Missense_Mutation_p.L694M	p.L694M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2681	-		Acute lymphoblastic leukemia(62;0.0568)	694			Helical; (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2080C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712437	0.30322	.	.	ENSG00000198785	ENST00000361820	T	0.57595	0.39	5.39	2.56	0.30785	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000007	T	0.69405	0.3107	M	0.79805	2.47	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.69030	-0.5253	10	0.45353	T	0.12	.	9.8235	0.40896	0.2932:0.0:0.7068:0.0	.	694	Q8TCU5	NMD3A_HUMAN	M	694	ENSP00000355155:L694M	ENSP00000355155:L694M	L	-	1	2	GRIN3A	103472435	0.993000	0.37304	0.975000	0.42487	0.562000	0.35680	2.068000	0.41471	0.795000	0.33922	-0.233000	0.12211	CTG		0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			50	89	1	0	9.40368e-32	0.01441	1.35095e-31	50	89				
OR13C2	392376	broad.mit.edu	37	9	107367545	107367545	+	Missense_Mutation	SNP	G	G	C	rs542695860		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:107367545G>C	ENST00000542196.1	-	1	406	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCACATAGCGGTCAAAGGCC	0.517																																							uc011lvq.1		NA																	1	Substitution - Missense(1)		skin(1)	skin(1)	1						c.(364-366)CGC>GGC		olfactory receptor, family 13, subfamily C,							106.0	108.0	107.0					9																	107367545		2202	4297	6499	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367545G>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.364C>G	9.37:g.107367545G>C	ENSP00000438815:p.Arg122Gly						p.R122G	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	364	-			122			Cytoplasmic (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.364C>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521157	0.44866	.	.	ENSG00000257019	ENST00000542196	T	0.77620	-1.11	3.53	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	U	0.002274	D	0.88592	0.6478	H	0.96111	3.77	0.26972	N	0.965577	P	0.47762	0.9	P	0.58266	0.836	T	0.82370	-0.0491	10	0.87932	D	0	.	9.3613	0.38197	0.2937:0.0:0.7063:0.0	.	122	Q8NGS9	O13C2_HUMAN	G	122	ENSP00000438815:R122G	ENSP00000438815:R122G	R	-	1	0	OR13C2	106407366	0.402000	0.25311	0.953000	0.39169	0.916000	0.54674	0.862000	0.27899	-0.350000	0.08262	-1.598000	0.00824	CGC		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		32	122	0	0	0	0.006999	0	32	122				
MUSK	4593	broad.mit.edu	37	9	113562828	113562828	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:113562828C>A	ENST00000374448.4	+	15	2304	c.2170C>A	c.(2170-2172)Cga>Aga	p.R724R	MUSK_ENST00000416899.2_Silent_p.R716R|MUSK_ENST00000189978.5_Silent_p.R724R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTTTGTTCACCGAGATTTAGC	0.557																																							uc004bey.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2170-2172)CGA>AGA		skeletal muscle receptor tyrosine kinase							140.0	140.0	140.0					9																	113562828		1984	4162	6146	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562828C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2170C>A	9.37:g.113562828C>A						MUSK_uc004bez.1_Silent_p.R304R	p.R724R	NM_005592	NP_005583	O15146	MUSK_HUMAN			14	2268	+			724			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.2170C>A	CCDS48005.1																																																																																				0.557	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				67	171	1	0	2.3441e-25	0.01441	3.27532e-25	67	171				
NUP188	23511	broad.mit.edu	37	9	131711500	131711500	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:131711500G>T	ENST00000372577.2	+	2	86	c.65G>T	c.(64-66)gGa>gTa	p.G22V	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Nonsense_Mutation_p.E43*|DOLK_ENST00000372586.3_5'Flank	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	22					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATTCTGCTTGGAAGGTCAGCT	0.408																																							uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(64-66)GGA>GTA		nucleoporin 188kDa							160.0	154.0	156.0					9																	131711500		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131711500G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.65G>T	9.37:g.131711500G>T	ENSP00000361658:p.Gly22Val					NUP188_uc004bwq.1_Missense_Mutation_p.G24V|DOLK_uc004bwr.2_5'Flank	p.G22V	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			2	87	+			22					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.65G>T	CCDS35156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.645848|4.645848	0.87958|0.87958	.|.	.|.	ENSG00000251184|ENSG00000095319	ENST00000482796|ENST00000356693;ENST00000372577	.|T	.|0.39592	.|1.07	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.55721	.|0.1938	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.891;1.0	.|P;D	.|0.97110	.|0.568;1.0	.|T	.|0.53760	.|-0.8393	.|10	.|0.48119	.|T	.|0.1	-9.1308|-9.1308	18.2391|18.2391	0.89960|0.89960	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|22;22	.|Q5SRE5;F8W973	.|NU188_HUMAN;.	X|V	43|22	.|ENSP00000361658:G22V	.|ENSP00000349125:G22V	E|G	+|+	1|2	0|0	RP11-101E3.5|NUP188	130751321|130751321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	8.845000|8.845000	0.92153|0.92153	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.408	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			19	39	1	0	1.10513e-12	0.014323	1.4032e-12	19	39				
MED14	9282	broad.mit.edu	37	X	40568708	40568708	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:40568708C>G	ENST00000324817.1	-	10	1295	c.1177G>C	c.(1177-1179)Gac>Cac	p.D393H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	393	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATAAGTGGTCGATCTGCATA	0.353																																							uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(1177-1179)GAC>CAC		mediator complex subunit 14							59.0	50.0	53.0					X																	40568708		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40568708C>G	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1177G>C	X.37:g.40568708C>G	ENSP00000323720:p.Asp393His					MED14_uc010nhe.1_Missense_Mutation_p.D277H	p.D393H	NM_004229	NP_004220	O60244	MED14_HUMAN			10	1317	-			393			Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.1177G>C	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398513	0.62177	.	.	ENSG00000180182	ENST00000324817	T	0.43688	0.94	5.31	4.45	0.53987	.	0.089382	0.85682	D	0.000000	T	0.56949	0.2020	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.59685	-0.7408	10	0.72032	D	0.01	.	12.9326	0.58294	0.0:0.9201:0.0:0.0799	.	393	O60244	MED14_HUMAN	H	393	ENSP00000323720:D393H	ENSP00000323720:D393H	D	-	1	0	MED14	40453652	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.780000	0.68956	1.021000	0.39600	0.523000	0.50628	GAC		0.353	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		12	22	0	0	0	0.001855	0	12	22				
USP51	158880	broad.mit.edu	37	X	55513730	55513730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:55513730G>C	ENST00000500968.3	-	2	1725	c.1643C>G	c.(1642-1644)tCa>tGa	p.S548*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	548	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTCTGTAAGTGAGGGGATTCC	0.498																																							uc004dun.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1642-1644)TCA>TGA		ubiquitin specific protease 51							88.0	66.0	74.0					X																	55513730		2203	4300	6503	SO:0001587	stop_gained	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513730G>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1643C>G	X.37:g.55513730G>C	ENSP00000423333:p.Ser548*					USP51_uc011moo.1_Nonsense_Mutation_p.S252*	p.S548*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1722	-			548					Q8IWJ8	Nonsense_Mutation	SNP	ENST00000500968.3	37	c.1643C>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	36	5.955960	0.97145	.	.	ENSG00000247746	ENST00000500968	.	.	.	3.03	3.03	0.35002	.	0.120298	0.53938	U	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.2833	0.49208	0.0:0.0:1.0:0.0	.	.	.	.	X	548	.	ENSP00000423333:S548X	S	-	2	0	USP51	55530455	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.104000	0.71498	1.791000	0.52520	0.502000	0.49764	TCA		0.498	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		15	10	0	0	0	0.00245	0	15	10				
AR	367	broad.mit.edu	37	X	66765228	66765228	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:66765228A>G	ENST00000374690.3	+	1	764	c.240A>G	c.(238-240)caA>caG	p.Q80Q	AR_ENST00000504326.1_Silent_p.Q80Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.Q80Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcaagagactagcc	0.647									Androgen Insensitivity Syndrome																														uc004dwu.1		NA																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(238-240)CAA>CAG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						11.0	10.0	10.0					X																	66765228		2151	4208	6359	SO:0001819	synonymous_variant	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765228A>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.240A>G	X.37:g.66765228A>G						AR_uc011mpd.1_Silent_p.Q80Q|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.Q80Q	p.Q80Q	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1355	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.240A>G	CCDS14387.1																																																																																				0.647	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		12	16	0	0	0	0.010729	0	12	16				
NLGN3	54413	broad.mit.edu	37	X	70389453	70389453	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70389453G>T	ENST00000358741.3	+	8	2356	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.G665W|NLGN3_ENST00000536169.1_Missense_Mutation_p.G645W	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	685					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GAATGCCCAGGGGTCCTGGAA	0.622																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2		NA																	0				ovary(1)	1						c.(1993-1995)GGG>TGG		neuroligin 3							49.0	40.0	43.0					X																	70389453		2202	4300	6502	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389453G>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2053G>T	X.37:g.70389453G>T	ENSP00000351591:p.Gly685Trp					NLGN3_uc004dzc.2_Missense_Mutation_p.G548W|NLGN3_uc011mps.1_Missense_Mutation_p.G645W|NLGN3_uc004dze.2_Missense_Mutation_p.G483W	p.G665W	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2297	+	Renal(35;0.156)		685			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1993G>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079072	0.55753	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.66460	-0.21;-0.21;-0.21	5.06	5.06	0.68205	.	0.445960	0.27319	N	0.019916	T	0.62865	0.2463	N	0.14661	0.345	0.45477	D	0.99844	P;P;P	0.45594	0.783;0.783;0.862	P;P;P	0.50754	0.447;0.447;0.649	T	0.69833	-0.5038	10	0.72032	D	0.01	.	17.7199	0.88348	0.0:0.0:1.0:0.0	.	645;685;665	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	W	645;665;685	ENSP00000445298:G645W;ENSP00000363163:G665W;ENSP00000351591:G685W	ENSP00000351591:G685W	G	+	1	0	NLGN3	70306178	1.000000	0.71417	0.947000	0.38551	0.938000	0.57974	5.314000	0.65804	2.372000	0.80975	0.431000	0.28591	GGG		0.622	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		31	20	1	0	4.3181e-19	0.013726	5.87261e-19	31	20				
OGT	8473	broad.mit.edu	37	X	70779444	70779444	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70779444T>A	ENST00000373719.3	+	14	1985	c.1768T>A	c.(1768-1770)Tgt>Agt	p.C590S	OGT_ENST00000373701.3_Missense_Mutation_p.C580S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	590					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCAGGTGTTCTGTTATGCCCT	0.433																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1768-1770)TGT>AGT		O-linked GlcNAc transferase isoform 1							82.0	67.0	72.0					X																	70779444		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70779444T>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1768T>A	X.37:g.70779444T>A	ENSP00000362824:p.Cys590Ser					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.C580S|OGT_uc004eac.2_Missense_Mutation_p.C451S|OGT_uc004ead.2_Missense_Mutation_p.C209S	p.C590S	NM_181672	NP_858058	O15294	OGT1_HUMAN			14	1985	+	Renal(35;0.156)		590					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1768T>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.351680	0.61183	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.74526	-0.85;-0.85	4.94	4.94	0.65067	.	0.043834	0.85682	N	0.000000	T	0.78400	0.4277	M	0.87456	2.885	0.80722	D	1	B;B;P	0.40250	0.001;0.231;0.709	B;B;B	0.39299	0.004;0.023;0.296	T	0.82627	-0.0364	10	0.66056	D	0.02	.	13.862	0.63566	0.0:0.0:0.0:1.0	.	464;580;590	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	S	590;580	ENSP00000362824:C590S;ENSP00000362805:C580S	ENSP00000362805:C580S	C	+	1	0	OGT	70696169	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.842000	0.86851	1.848000	0.53677	0.422000	0.28245	TGT		0.433	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		15	23	0	0	0	0.00245	0	15	23				
OGT	8473	broad.mit.edu	37	X	70783197	70783197	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70783197G>A	ENST00000373719.3	+	18	2501	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	OGT_ENST00000373701.3_Missense_Mutation_p.G752R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	762					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCCTGATGGAGGAGACAATGC	0.363																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2284-2286)GGA>AGA		O-linked GlcNAc transferase isoform 1							104.0	93.0	97.0					X																	70783197		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70783197G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2284G>A	X.37:g.70783197G>A	ENSP00000362824:p.Gly762Arg					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.G752R|OGT_uc004eac.2_Missense_Mutation_p.G623R|OGT_uc004ead.2_Missense_Mutation_p.G381R	p.G762R	NM_181672	NP_858058	O15294	OGT1_HUMAN			18	2501	+	Renal(35;0.156)		762					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2284G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857072	0.32791	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.71579	-0.58;-0.58	5.34	5.34	0.76211	.	0.108340	0.64402	D	0.000004	T	0.56746	0.2006	N	0.20685	0.6	0.52501	D	0.999955	B;B;B	0.28971	0.025;0.004;0.229	B;B;B	0.26770	0.028;0.01;0.073	T	0.57780	-0.7752	10	0.46703	T	0.11	.	14.6498	0.68789	0.0:0.0:0.8547:0.1453	.	636;752;762	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	R	762;752	ENSP00000362824:G762R;ENSP00000362805:G752R	ENSP00000362805:G752R	G	+	1	0	OGT	70699922	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.907000	0.63300	2.466000	0.83321	0.594000	0.82650	GGA		0.363	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		25	85	0	0	0	0.008361	0	25	85				
MAGEE1	57692	broad.mit.edu	37	X	75650019	75650019	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:75650019C>G	ENST00000361470.2	+	1	1974	c.1696C>G	c.(1696-1698)Cct>Gct	p.P566A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	566	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAACTGGGACCTGTGCCCTT	0.488																																							uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1696-1698)CCT>GCT		melanoma antigen family E, 1							33.0	29.0	31.0					X																	75650019		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650019C>G	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1696C>G	X.37:g.75650019C>G	ENSP00000354912:p.Pro566Ala						p.P566A	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1903	+			566			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1696C>G	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075391	0.08485	.	.	ENSG00000198934	ENST00000361470	T	0.04502	3.61	2.34	1.46	0.22682	.	.	.	.	.	T	0.13286	0.0322	M	0.71036	2.16	0.09310	N	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.23655	-1.0182	9	0.17369	T	0.5	.	4.2562	0.10719	0.0:0.7915:0.0:0.2085	.	566	Q9HCI5	MAGE1_HUMAN	A	566	ENSP00000354912:P566A	ENSP00000354912:P566A	P	+	1	0	MAGEE1	75566423	0.940000	0.31905	0.378000	0.26068	0.035000	0.12851	0.912000	0.28597	0.407000	0.25591	0.594000	0.82650	CCT		0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		15	20	0	0	0	0.00245	0	15	20				
ATP7A	538	broad.mit.edu	37	X	77267089	77267089	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:77267089C>A	ENST00000341514.6	+	9	2245	c.2090C>A	c.(2089-2091)tCt>tAt	p.S697Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.S697Y|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	697					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AACCTTCATTCTTCTATGTTC	0.388																																							uc004ecx.3		NA																	0					0						c.(2089-2091)TCT>TAT		ATPase, Cu++ transporting, alpha polypeptide							235.0	224.0	228.0					X																	77267089		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267089C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2090C>A	X.37:g.77267089C>A	ENSP00000345728:p.Ser697Tyr					ATP7A_uc004ecw.2_3'UTR	p.S697Y	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			9	2250	+			697			Extracellular (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2090C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697551	0.68386	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.90324	-2.65;-2.65	5.51	5.51	0.81932	.	0.060304	0.64402	D	0.000002	D	0.93197	0.7833	M	0.67953	2.075	0.80722	D	1	P	0.46952	0.887	P	0.52554	0.702	D	0.93607	0.6935	10	0.62326	D	0.03	-1.1969	18.4754	0.90791	0.0:1.0:0.0:0.0	.	697	Q04656	ATP7A_HUMAN	Y	697	ENSP00000343026:S697Y;ENSP00000345728:S697Y	ENSP00000345728:S697Y	S	+	2	0	ATP7A	77153745	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.710000	0.68392	2.304000	0.77564	0.594000	0.82650	TCT		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		129	194	1	0	3.33775e-37	0.01441	4.93406e-37	129	194				
CYLC1	1538	broad.mit.edu	37	X	83129064	83129064	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:83129064C>A	ENST00000329312.4	+	4	1385	c.1348C>A	c.(1348-1350)Ccg>Acg	p.P450T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	450					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGACTCTGAACCGAAGGGAGA	0.343																																							uc004eei.1		NA																	0				ovary(4)|skin(1)	5						c.(1348-1350)CCG>ACG		cylicin, basic protein of sperm head							25.0	22.0	23.0					X																	83129064		2200	4296	6496	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129064C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1348C>A	X.37:g.83129064C>A	ENSP00000331556:p.Pro450Thr					CYLC1_uc004eeh.1_Missense_Mutation_p.P449T	p.P450T	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1369	+			450			5.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1348C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	2.479	-0.320074	0.05386	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.20881	2.04	3.82	2.55	0.30701	.	.	.	.	.	T	0.12732	0.0309	N	0.22421	0.69	0.22954	N	0.99851	B;B	0.18610	0.029;0.029	B;B	0.16289	0.015;0.015	T	0.23904	-1.0175	9	0.44086	T	0.13	-0.0135	5.0935	0.14721	0.0:0.1384:0.0:0.8616	.	450;450	P35663;F5H4V5	CYLC1_HUMAN;.	T	450	ENSP00000331556:P450T	ENSP00000331556:P450T	P	+	1	0	CYLC1	83015720	0.996000	0.38824	0.987000	0.45799	0.013000	0.08279	0.628000	0.24522	0.628000	0.30357	-0.354000	0.07668	CCG		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		10	24	1	0	2.17888e-05	0.006214	2.41571e-05	10	24				
HDX	139324	broad.mit.edu	37	X	83724259	83724259	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:83724259G>T	ENST00000297977.5	-	3	583	c.472C>A	c.(472-474)Caa>Aaa	p.Q158K	HDX_ENST00000506585.2_Missense_Mutation_p.Q100K|HDX_ENST00000373177.2_Missense_Mutation_p.Q158K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	158						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTGCTACTTGTCTTTGGACA	0.358																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(472-474)CAA>AAA		highly divergent homeobox							238.0	194.0	209.0					X																	83724259		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724259G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.472C>A	X.37:g.83724259G>T	ENSP00000297977:p.Gln158Lys					HDX_uc011mqv.1_Missense_Mutation_p.Q158K|HDX_uc004eel.1_Missense_Mutation_p.Q100K	p.Q158K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	581	-			158					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.472C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218648	0.58560	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.59364	1.65;1.34;1.65;0.27	4.9	4.9	0.64082	.	0.064498	0.64402	D	0.000005	T	0.70465	0.3227	L	0.51422	1.61	0.47341	D	0.999396	D	0.54964	0.969	D	0.64877	0.93	T	0.73483	-0.3968	10	0.72032	D	0.01	-0.7941	17.4912	0.87704	0.0:0.0:1.0:0.0	.	158	Q7Z353	HDX_HUMAN	K	158;100;158;100	ENSP00000297977:Q158K;ENSP00000362272:Q100K;ENSP00000423670:Q158K;ENSP00000387790:Q100K	ENSP00000297977:Q158K	Q	-	1	0	HDX	83610915	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.210000	0.72176	2.402000	0.81655	0.513000	0.50165	CAA		0.358	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		24	157	1	0	7.87624e-14	0.00278	1.01693e-13	24	157				
RAB40A	142684	broad.mit.edu	37	X	102755508	102755508	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:102755508G>A	ENST00000372633.1	-	1	2295	c.177C>T	c.(175-177)gaC>gaT	p.D59D	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Silent_p.D59D			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587																																							uc004ekk.2		NA																	0					0						c.(175-177)GAC>GAT		RAB40A, member RAS oncogene family							103.0	90.0	95.0					X																	102755508		2203	4300	6503	SO:0001819	synonymous_variant	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755508G>A	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.177C>T	X.37:g.102755508G>A							p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN			3	519	-			59					O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	c.177C>T	CCDS35357.1																																																																																				0.587	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			21	173	0	0	0	0.007291	0	21	173				
HTR2C	3358	broad.mit.edu	37	X	113965991	113965991	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:113965991C>T	ENST00000276198.1	+	4	1052	c.324C>T	c.(322-324)ccC>ccT	p.P108P	HTR2C_ENST00000371951.1_Silent_p.P108P|HTR2C_ENST00000371950.3_Silent_p.P108P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	108					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTGTCATGCCCCTGTCTCTCC	0.378																																							uc004epu.1		NA																	0				ovary(3)	3						c.(322-324)CCC>CCT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						173.0	142.0	153.0					X																	113965991		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965991C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.324C>T	X.37:g.113965991C>T						HTR2C_uc010nqc.1_Silent_p.P108P|HTR2C_uc004epv.1_Silent_p.P108P	p.P108P	NM_000868	NP_000859	P28335	5HT2C_HUMAN			4	1052	+			108			Helical; Name=2; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.324C>T	CCDS14564.1																																																																																				0.378	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		47	79	0	0	0	0.01441	0	47	79				
BCORL1	63035	broad.mit.edu	37	X	129155080	129155080	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:129155080C>A	ENST00000218147.7	+	5	3759	c.3562C>A	c.(3562-3564)Ccg>Acg	p.P1188T	BCORL1_ENST00000540052.1_Missense_Mutation_p.P1188T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1188T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P1188T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1188					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGACAAAGCCGGAGTCCCA	0.632																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3562-3564)CCG>ACG		BCL6 co-repressor-like 1							36.0	38.0	37.0					X																	129155080		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155080C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3562C>A	X.37:g.129155080C>A	ENSP00000218147:p.Pro1188Thr					BCORL1_uc010nrd.1_Missense_Mutation_p.P1090T	p.P1188T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3676	+			1188					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3562C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.516044|1.516044	0.27123|0.27123	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.40756	.|1.02;1.42;1.13;1.02;1.51	6.17|6.17	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36374	.|N	.|0.002632	T|T	0.20007|0.20007	0.0481|0.0481	N|N	0.11560|0.11560	0.145|0.145	0.27271|0.27271	N|N	0.958353|0.958353	.|B;B	.|0.29136	.|0.234;0.055	.|B;B	.|0.32289	.|0.143;0.012	T|T	0.06917|0.06917	-1.0800|-1.0800	5|10	.|0.29301	.|T	.|0.29	-7.5129|-7.5129	3.5736|3.5736	0.07926|0.07926	0.3018:0.4892:0.0:0.209|0.3018:0.4892:0.0:0.209	.|.	.|1188;1188	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|T	623|1188;1188;1188;1188;788	.|ENSP00000218147:P1188T;ENSP00000307541:P1188T;ENSP00000352253:P1188T;ENSP00000437775:P1188T;ENSP00000399483:P788T	.|ENSP00000218147:P1188T	A|P	+|+	2|1	0|0	BCORL1|BCORL1	128982761|128982761	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.995000|0.995000	0.86356|0.86356	2.201000|2.201000	0.42734|0.42734	1.354000|1.354000	0.45846|0.45846	0.600000|0.600000	0.82982|0.82982	GCC|CCG		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		26	29	1	0	1.17739e-12	0.005443	1.48877e-12	26	29				
STK26	51765	broad.mit.edu	37	X	131197496	131197496	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:131197496C>A	ENST00000354719.6	+	4	525	c.309C>A	c.(307-309)ggC>ggA	p.G103G	MST4_ENST00000394335.2_Silent_p.G26G|MST4_ENST00000481105.1_Silent_p.G125G|MST4_ENST00000394334.2_Silent_p.G103G|MST4_ENST00000496850.1_Silent_p.G103G																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATACCTGGGCGGTGGTTCAG	0.318																																							uc004ewk.1		NA																	0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(307-309)GGC>GGA		serine/threonine protein kinase MST4 isoform 1							106.0	105.0	105.0					X																	131197496		2203	4300	6503	SO:0001819	synonymous_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131197496C>A																												ENST00000354719.6:c.309C>A	X.37:g.131197496C>A						MST4_uc004ewl.1_Silent_p.G26G|MST4_uc011mux.1_Silent_p.G125G|MST4_uc010nrj.1_Silent_p.G103G|MST4_uc004ewm.1_Silent_p.G103G	p.G103G	NM_016542	NP_057626	Q9P289	MST4_HUMAN			4	610	+	Acute lymphoblastic leukemia(192;0.000127)		103			Protein kinase.			Silent	SNP	ENST00000354719.6	37	c.309C>A																																																																																					0.318	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			52	65	1	0	1.73933e-33	0.01441	2.52244e-33	52	65				
SLITRK2	84631	broad.mit.edu	37	X	144905434	144905434	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:144905434C>A	ENST00000370490.1	+	1	5746	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	SLITRK2_ENST00000413937.2_Silent_p.T497T|SLITRK2_ENST00000434188.2_Silent_p.T497T|SLITRK2_ENST00000428560.2_Silent_p.T497T|SLITRK2_ENST00000447897.2_Silent_p.T497T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	497					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCCTAACCAGGCTGAATC	0.478																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1489-1491)ACC>ACA		SLIT and NTRK-like family, member 2 precursor							101.0	107.0	105.0					X																	144905434		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144905434C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1491C>A	X.37:g.144905434C>A						SLITRK2_uc010nsp.2_Silent_p.T497T|SLITRK2_uc010nso.2_Silent_p.T497T|SLITRK2_uc011mwq.1_Silent_p.T497T|SLITRK2_uc011mwr.1_Silent_p.T497T|SLITRK2_uc011mws.1_Silent_p.T497T|SLITRK2_uc004fcg.2_Silent_p.T497T|SLITRK2_uc011mwt.1_Silent_p.T497T	p.T497T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2481	+	Acute lymphoblastic leukemia(192;6.56e-05)		497			Extracellular (Potential).|LRR 12.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.1491C>A	CCDS14680.1																																																																																				0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		48	157	1	0	8.86878e-18	0.01441	1.19553e-17	48	157				
GPR50	9248	broad.mit.edu	37	X	150349408	150349409	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:150349408_150349409CC>AT	ENST00000218316.3	+	2	1422_1423	c.1353_1354CC>AT	c.(1351-1356)gtCCat>gtATat	p.H452Y	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	452	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCTGTCCATTTCAAGGG	0.55																																							uc010ntg.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1351-1356)GTCCAT>GTATAT		G protein-coupled receptor 50																																				SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349408_150349409CC>AT	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	Exception_encountered	X.37:g.150349408_150349409delinsAT	ENSP00000218316:p.His452Tyr						p.H452Y	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1488_1489	+	Acute lymphoblastic leukemia(192;6.56e-05)		452			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	DNP	ENST00000218316.3	37	c.1353_1354CC>AT	CCDS44012.1																																																																																				0.550	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		281	369	0	0	0	0.004672	0	281	369				
IL9R	3581	broad.mit.edu	37	X	155233373	155233373	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:155233373A>G	ENST00000244174.5	+	4	465	c.286A>G	c.(286-288)Atc>Gtc	p.I96V	IL9R_ENST00000369423.2_Silent_p.A140A|IL9R_ENST00000540897.1_Silent_p.A130A|IL9R_ENST00000424344.3_Missense_Mutation_p.I75V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	96					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACATAAGTGCATCTTGCGGGG	0.582																																							uc004fnv.1		NA																	0					0						c.(286-288)ATC>GTC		interleukin 9 receptor precursor		A	VAL/ILE	0,4406		0,0,2203	79.0	76.0	77.0		286	-1.2	0.0	X		77	1,8591		0,1,4295	no	missense	IL9R	NM_002186.2	29	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign	96/522	155233373	1,12997	2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233373A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.286A>G	X.37:g.155233373A>G	ENSP00000244174:p.Ile96Val					IL9R_uc010nvn.2_Missense_Mutation_p.I75V|IL9R_uc004fnu.1_Silent_p.A140A	p.I96V	NM_002186	NP_002177	Q01113	IL9R_HUMAN			4	465	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		96			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.286A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.670457	0.00758	0.0	1.16E-4	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739	T;T	0.29397	1.57;1.57	1.14	-1.25	0.09405	.	2.000140	0.02504	N	0.090763	T	0.16514	0.0397	.	.	.	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.08055	0.002;0.003	T	0.10405	-1.0631	9	0.18276	T	0.48	-5.9257	4.138	0.10179	0.501:0.0:0.499:0.0	.	75;96	F5H3Z0;Q01113	.;IL9R_HUMAN	V	96;75;75	ENSP00000244174:I96V;ENSP00000388918:I75V	ENSP00000244174:I96V	I	+	1	0	IL9R	154886567	0.109000	0.22037	0.003000	0.11579	0.307000	0.27823	0.007000	0.13174	-0.550000	0.06183	0.238000	0.17879	ATC		0.582	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		15	11	0	0	0	0.004007	0	15	11				
MS4A14	84689	broad.mit.edu	37	11	60183801	60183801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:60183801delC	ENST00000300187.6	+	5	1637	c.1360delC	c.(1360-1362)caafs	p.Q454fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.Q437fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.Q487fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.Q342fs	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	454	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAAATTTTACAAATGTCATA	0.398																																							uc001npj.2		NA																	0				breast(1)	1						c.(1360-1362)CAAfs		membrane-spanning 4-domains, subfamily A, member							62.0	64.0	63.0					11																	60183801		2203	4299	6502	SO:0001589	frameshift_variant	84689					integral to membrane	receptor activity	g.chr11:60183801delC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1360delC	11.37:g.60183801delC	ENSP00000300187:p.Gln454fs					MS4A14_uc001npi.2_Frame_Shift_Del_p.Q342fs|MS4A14_uc001npn.2_Frame_Shift_Del_p.Q192fs|MS4A14_uc001npk.2_Frame_Shift_Del_p.Q437fs|MS4A14_uc001npl.2_Frame_Shift_Del_p.Q192fs|MS4A14_uc001npm.2_Frame_Shift_Del_p.Q192fs	p.Q454fs	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1925	+			454			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Frame_Shift_Del	DEL	ENST00000300187.6	37	c.1360delC	CCDS31569.1																																																																																				0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			22	51	NA	NA	NA	NA	NA	22	51	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111289	81111289	+	Frame_Shift_Del	DEL	G	G	-	rs141800220		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:81111289delG	ENST00000228644.3	+	1	599	c.447delG	c.(445-447)ccgfs	p.P149fs		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	149					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATAGCCTGCCGGGACAGAGCT	0.557																																							uc001szg.2		NA																	0				ovary(1)	1						c.(445-447)CCGfs		myogenic factor 5							121.0	130.0	127.0					12																	81111289		2203	4300	6503	SO:0001589	frameshift_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111289delG		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.447delG	12.37:g.81111289delG	ENSP00000228644:p.Pro149fs						p.P149fs	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	582	+			149					Q6ISR9	Frame_Shift_Del	DEL	ENST00000228644.3	37	c.447delG	CCDS9020.1																																																																																				0.557	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		57	205	NA	NA	NA	NA	NA	57	205	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94770871	94770871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94770871delG	ENST00000341584.3	-	5	1248	c.1102delC	c.(1102-1104)ctafs	p.L368fs		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	368					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGTTTAGGGTGACCCCA	0.522																																							uc001ycv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1102-1104)CTAfs		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						197.0	154.0	169.0					14																	94770871		2203	4300	6503	SO:0001589	frameshift_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770871delG	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1102delC	14.37:g.94770871delG	ENSP00000342850:p.Leu368fs					SERPINA6_uc010auv.2_RNA	p.L368fs	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1206	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	368					A8K456|Q7Z2Q9	Frame_Shift_Del	DEL	ENST00000341584.3	37	c.1102delC	CCDS9924.1																																																																																				0.522	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		19	42	NA	NA	NA	NA	NA	19	42	---	---	---	---
CYP11A1	1583	broad.mit.edu	37	15	74630957	74630958	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:74630957_74630958insA	ENST00000268053.6	-	8	1542_1543	c.1388_1389insT	c.(1387-1389)ctgfs	p.L463fs	CYP11A1_ENST00000419019.2_Frame_Shift_Ins_p.L305fs|CYP11A1_ENST00000358632.4_Frame_Shift_Ins_p.L305fs	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	463					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCCGCCGTCCCAGACACTGCCG	0.559																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NA																	0				ovary(2)	2						c.(1387-1389)CTGfs		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)																																			SO:0001589	frameshift_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630957_74630958insA	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1389dupT	15.37:g.74630958_74630958dupA	ENSP00000268053:p.Leu463fs					CYP11A1_uc002axs.2_Frame_Shift_Ins_p.L305fs|CYP11A1_uc010bjm.1_Frame_Shift_Ins_p.L305fs|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Frame_Shift_Ins_p.L381fs	p.L463fs	NM_000781	NP_000772	P05108	CP11A_HUMAN			8	1543_1544	-			463					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Frame_Shift_Ins	INS	ENST00000268053.6	37	c.1388_1389insT	CCDS32291.1																																																																																				0.559	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			35	68	NA	NA	NA	NA	NA	35	68	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																							uc002cto.2		NA																	0				pancreas(1)	1						c.(652-654)GACfs		interleukin 32 isoform B																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	p.D218fs	NM_004221	NP_004212	P24001	IL32_HUMAN			6	864_865	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.653_654insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		15	279	NA	NA	NA	NA	NA	15	279	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577089	7577094	+	In_Frame_Del	DEL	GCGCCG	GCGCCG	-	rs28934574|rs371409680|rs149633775	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GCGCCG	GCGCCG	-	-	GCGCCG	GCGCCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:7577089_7577094delGCGCCG	ENST00000269305.4	-	8	1033_1038	c.844_849delCGGCGC	c.(844-849)cggcgcdel	p.RR282del	TP53_ENST00000455263.2_In_Frame_Del_p.RR282del|TP53_ENST00000359597.4_In_Frame_Del_p.RR282del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_In_Frame_Del_p.RR282del|TP53_ENST00000445888.2_In_Frame_Del_p.RR282del	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.R283P(27)|p.R282Q(27)|p.R283C(17)|p.R282P(17)|p.R283H(13)|p.R282R(10)|p.0?(8)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R282fs*24(4)|p.R282L(3)|p.R282H(3)|p.R283G(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.T284fs*21(1)|p.T284fs*61(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R280fs*62(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)	CTTCCTCTGTGCGCCGGTCTCTCCCA	0.563		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		609	Substitution - Missense(544)|Deletion - Frameshift(17)|Substitution - coding silent(14)|Insertion - Frameshift(10)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.R282W(367)|p.R282G(27)|p.R283P(23)|p.R282Q(21)|p.R283C(17)|p.R282P(14)|p.R283H(12)|p.R282R(8)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R282L(3)|p.R283G(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.R282fs*24(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.T284fs*21(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R282H(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R280fs*62(1)|p.R283_T284>T(1)	large_intestine(150)|upper_aerodigestive_tract(60)|oesophagus(56)|lung(50)|breast(41)|stomach(38)|central_nervous_system(32)|urinary_tract(31)|ovary(29)|haematopoietic_and_lymphoid_tissue(27)|skin(24)|pancreas(16)|liver(10)|bone(9)|biliary_tract(6)|vulva(5)|prostate(5)|peritoneum(3)|endometrium(3)|autonomic_ganglia(3)|thyroid(3)|soft_tissue(3)|NS(2)|cervix(1)|adrenal_gland(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004344|CM021154|CM041458|CM056413|CM920678	TP53	M	rs149633775|rs28934574	c.(844-849)CGGCGCdel	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7577089_7577094delGCGCCG	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.844_849delCGGCGC	17.37:g.7577089_7577094delGCGCCG	ENSP00000269305:p.Arg282_Arg283del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.RR282del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.RR150del|TP53_uc010cng.1_In_Frame_Del_p.RR150del|TP53_uc002gii.1_In_Frame_Del_p.RR150del|TP53_uc010cnh.1_In_Frame_Del_p.RR282del|TP53_uc010cni.1_In_Frame_Del_p.RR282del|TP53_uc002gij.2_In_Frame_Del_p.RR282del	p.RR282del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038_1043	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282_283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.844_849delCGGCGC	CCDS11118.1																																																																																				0.563	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	21	NA	NA	NA	NA	NA	12	21	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11686960	11686961	+	Intron	INS	-	-	A	rs369459385		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:11686960_11686961insA	ENST00000262442.4	+	40	7786				DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGACTGTTCCAGGTATGATCG	0.52																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e40-2		dynein, axonemal, heavy chain 9 isoform 2																																				SO:0001627	intron_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11686960_11686961insA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7719-2->A	17.37:g.11686961_11686961dupA						DNAH9_uc010coo.2_Splice_Site_p.W1867_splice	p.W2573_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	40	7787	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	INS	ENST00000262442.4	37	c.7719_splice	CCDS11160.1																																																																																				0.520	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	21	NA	NA	NA	NA	NA	12	21	---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190428482	190428484	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:190428482_190428484delTGA	ENST00000261024.2	-	7	1654_1656	c.1228_1230delTCA	c.(1228-1230)tcadel	p.S410del		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	410					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAATGAACCTTGATCGGATATCT	0.419																																							uc002uqp.3		NA																	0				ovary(1)	1						c.(1228-1230)TCAdel		solute carrier family 40 (iron-regulated																																				SO:0001651	inframe_deletion	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428482_190428484delTGA	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1228_1230delTCA	2.37:g.190428482_190428484delTGA	ENSP00000261024:p.Ser410del						p.S410del	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1579_1581	-			410					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	In_Frame_Del	DEL	ENST00000261024.2	37	c.1228_1230delTCA	CCDS2299.1																																																																																				0.419	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			13	63	NA	NA	NA	NA	NA	13	63	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100951633	100951633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:100951633delG	ENST00000193391.7	-	15	3412	c.3225delC	c.(3223-3225)gccfs	p.A1075fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1075	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACCTACAAATGGCCCCGTGCC	0.433																																							uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(3223-3225)GCCfs		interphotoreceptor matrix proteoglycan 2							74.0	64.0	67.0					3																	100951633		2203	4300	6503	SO:0001589	frameshift_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100951633delG	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3225delC	3.37:g.100951633delG	ENSP00000193391:p.Ala1075fs					IMPG2_uc011bhe.1_Frame_Shift_Del_p.A938fs|IMPG2_uc010hpj.1_RNA	p.A1075fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			15	3428	-			1075			Extracellular (Potential).|EGF-like 2.		A8MWT5|Q9UKD4|Q9UKK5	Frame_Shift_Del	DEL	ENST00000193391.7	37	c.3225delC	CCDS2940.1																																																																																				0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			18	16	NA	NA	NA	NA	NA	18	16	---	---	---	---
CD200	4345	broad.mit.edu	37	3	112054808	112054808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112054808delG	ENST00000473539.1	+	2	88	c.31delG	c.(31-33)gggfs	p.G12fs	CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron|CD200_ENST00000607516.1_3'UTR	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CAGGACAATTGGGGGCCCTCT	0.453																																							uc003dyw.2		NA																	0					0						c.(31-33)GGGfs		CD200 antigen isoform b							142.0	147.0	146.0					3																	112054808		2203	4300	6503	SO:0001589	frameshift_variant	4345				regulation of immune response	integral to plasma membrane		g.chr3:112054808delG		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.31delG	3.37:g.112054808delG	ENSP00000420298:p.Gly12fs					CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	p.G11fs	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			2	175	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	Error:Variant_position_missing_in_P41217_after_alignment					B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Frame_Shift_Del	DEL	ENST00000473539.1	37	c.31delG	CCDS33818.1																																																																																				0.453	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1			26	90	NA	NA	NA	NA	NA	26	90	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437372	122437373	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:122437372_122437373insA	ENST00000474629.2	+	14	4640_4641	c.4374_4375insA	c.(4375-4377)agtfs	p.S1459fs	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTCCTTACACCAGTGAAGATGA	0.406																																							uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4372-4377)ACCAGTfs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437372_122437373insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4375dupA	3.37:g.122437373_122437373dupA	ENSP00000418194:p.Ser1459fs					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Frame_Shift_Ins_p.T1175fs|PARP14_uc003efs.1_Frame_Shift_Ins_p.T1175fs	p.T1458fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4433_4434	+			1458_1459					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.4374_4375insA	CCDS46894.1																																																																																				0.406	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		12	86	NA	NA	NA	NA	NA	12	86	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128364079	128364079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:128364079delT	ENST00000262462.4	+	8	2506	c.1496delT	c.(1495-1497)gttfs	p.V499fs	SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.V499fs|SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.V499fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	499					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTTGCTGATGTTATTGGAATG	0.343																																							uc003kuy.2		NA																	0					0						c.(1495-1497)GTTfs		solute carrier family 27 (fatty acid							95.0	92.0	93.0					5																	128364079		2203	4299	6502	SO:0001589	frameshift_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128364079delT	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1496delT	5.37:g.128364079delT	ENSP00000262462:p.Val499fs					SLC27A6_uc003kuz.2_Frame_Shift_Del_p.V499fs	p.V499fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	9	1892	+		all_cancers(142;0.0483)|Prostate(80;0.055)	499					Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Del	DEL	ENST00000262462.4	37	c.1496delT	CCDS4145.1																																																																																				0.343	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		22	43	NA	NA	NA	NA	NA	22	43	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25472722	25472723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:25472722_25472723insT	ENST00000329474.6	+	11	1215_1216	c.847_848insT	c.(847-849)cttfs	p.L283fs	LRRC16A_ENST00000377969.3_Frame_Shift_Ins_p.L122fs	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	283					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACAATTAACCTTGCTGGCAAC	0.401																																							uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(847-849)CTTfs		leucine rich repeat containing 16A																																				SO:0001589	frameshift_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25472722_25472723insT	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.849dupT	6.37:g.25472724_25472724dupT	ENSP00000331983:p.Leu283fs					LRRC16A_uc010jpx.2_Frame_Shift_Ins_p.L283fs|LRRC16A_uc010jpy.2_Frame_Shift_Ins_p.L283fs|LRRC16A_uc003nez.1_Frame_Shift_Ins_p.L122fs	p.L283fs	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			11	1223_1224	+			283			LRR 2.		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Frame_Shift_Ins	INS	ENST00000329474.6	37	c.847_848insT	CCDS54973.1																																																																																				0.401	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		5	4	NA	NA	NA	NA	NA	5	4	---	---	---	---
CLDN2	9075	broad.mit.edu	37	X	106171515	106171515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:106171515delG	ENST00000541806.1	+	2	576	c.57delG	c.(55-57)ttgfs	p.L19fs	CLDN2_ENST00000540876.1_Frame_Shift_Del_p.L19fs|CLDN2_ENST00000336803.1_Frame_Shift_Del_p.L19fs	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	19					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGGGCTTTTGGGCACACTGG	0.562																																							uc004emq.1		NA																	0				ovary(1)	1						c.(55-57)TTGfs		claudin 2							82.0	69.0	73.0					X																	106171515		2203	4300	6503	SO:0001589	frameshift_variant	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171515delG	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.57delG	X.37:g.106171515delG	ENSP00000441283:p.Leu19fs					MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Frame_Shift_Del_p.L19fs	p.L19fs	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	576	+			19			Helical; (Potential).		B2R6B9	Frame_Shift_Del	DEL	ENST00000541806.1	37	c.57delG	CCDS14524.1																																																																																				0.562	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			48	88	NA	NA	NA	NA	NA	48	88	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																							uc004fee.1		NA																	0					0						c.(1786-1791)CTGCAG>CTG		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc011mxu.1_In_Frame_Del_p.Q581del|MAMLD1_uc011mxv.1_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.1_In_Frame_Del_p.Q533del	p.Q606del	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1864_1866	+	Acute lymphoblastic leukemia(192;6.56e-05)		606			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	184	NA	NA	NA	NA	NA	9	184	---	---	---	---
