#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
TNFRSF14	8764	broad.mit.edu	37	1	2493144	2493144	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:2493144G>T	ENST00000355716.4	+	6	883	c.584G>T	c.(583-585)gGg>gTg	p.G195V	TNFRSF14_ENST00000409119.1_3'UTR	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	195					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCCGGAGCTGGGACCAGCAGC	0.597			"""Mis, N, F"""		follicular lymphoma																																		uc001ajr.2		NA		Rec	yes		1	1p36.32	8764	Mis|N|F	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			L			follicular lymphoma		0				kidney(1)	1						c.(583-585)GGG>GTG		tumor necrosis factor receptor superfamily,																																				SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2493144G>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.584G>T	1.37:g.2493144G>T	ENSP00000347948:p.Gly195Val					TNFRSF14_uc001ajt.1_3'UTR|TNFRSF14_uc001ajs.2_Intron	p.G195V	NM_003820	NP_003811	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	6	883	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	195			Extracellular (Potential).		B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.584G>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285526	0.40394	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	1.99	1.99	0.26369	.	.	.	.	.	T	0.80909	0.4714	M	0.90814	3.15	0.21627	N	0.999612	D	0.62365	0.991	D	0.63597	0.916	T	0.67507	-0.5653	9	0.87932	D	0	-22.4052	7.4811	0.27406	0.0:0.0:1.0:0.0	.	195	Q92956	TNR14_HUMAN	V	195	ENSP00000415254:G195V;ENSP00000399292:G195V;ENSP00000399533:G195V;ENSP00000347948:G195V	ENSP00000347948:G195V	G	+	2	0	TNFRSF14	2481274	0.015000	0.18098	0.064000	0.19789	0.016000	0.09150	1.532000	0.36029	1.453000	0.47775	0.313000	0.20887	GGG		0.597	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			23	50	1	0	9.04412e-07	0.004656	1.26618e-06	23	50				
RNF207	388591	broad.mit.edu	37	1	6269998	6269998	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:6269998G>A	ENST00000377939.4	+	8	895	c.768G>A	c.(766-768)gaG>gaA	p.E256E	RNF207_ENST00000377948.2_Silent_p.E29E	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	256						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGCTGGCAGAGAGGAAAGCGC	0.662																																							uc001amg.2		NA																	0					0						c.(766-768)GAG>GAA		ring finger protein 207							51.0	55.0	53.0					1																	6269998		2203	4300	6503	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6269998G>A	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.768G>A	1.37:g.6269998G>A						RNF207_uc001amh.2_Missense_Mutation_p.E145K|RNF207_uc010nzp.1_RNA	p.E256E	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	8	942	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	256					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.768G>A	CCDS59.2																																																																																				0.662	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		25	30	0	0	0	0.005443	0	25	30				
ESPN	83715	broad.mit.edu	37	1	6511766	6511766	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:6511766G>A	ENST00000377828.1	+	9	2187	c.2019G>A	c.(2017-2019)ggG>ggA	p.G673G	ESPN_ENST00000461727.1_Silent_p.G107G|ESPN_ENST00000416731.1_Silent_p.G107G|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	673	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCAAGGGGCTGACCACAG	0.657																																							uc001amy.2		NA																	0					0						c.(2017-2019)GGG>GGA		espin							26.0	28.0	28.0					1																	6511766		2203	4300	6503	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6511766G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2019G>A	1.37:g.6511766G>A						ESPN_uc001amz.2_Silent_p.G107G	p.G673G	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	9	2187	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	673			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.2019G>A	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429271	0.25726	.	.	ENSG00000187017	ENST00000434576	.	.	.	4.95	-0.959	0.10343	.	.	.	.	.	T	0.40272	0.1110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	-27.6161	1.6294	0.02729	0.1597:0.1681:0.2203:0.4519	.	.	.	.	T	17	.	.	A	+	1	0	ESPN	6434353	0.992000	0.36948	0.998000	0.56505	0.836000	0.47400	0.319000	0.19522	-0.022000	0.13986	-0.327000	0.08410	GCT		0.657	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		7	17	0	0	0	0.001984	0	7	17				
PADI2	11240	broad.mit.edu	37	1	17413136	17413136	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:17413136C>A	ENST00000375486.4	-	7	777	c.714G>T	c.(712-714)gtG>gtT	p.V238V	PADI2_ENST00000375481.1_Silent_p.V238V|PADI2_ENST00000444885.2_Missense_Mutation_p.W157L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	238					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGTACTTGACCACATGGTAGA	0.607																																							uc001baf.2		NA																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(712-714)GTG>GTT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						82.0	86.0	85.0					1																	17413136		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413136C>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.714G>T	1.37:g.17413136C>A						PADI2_uc010ocm.1_Missense_Mutation_p.W157L|PADI2_uc001bag.1_Silent_p.V238V	p.V238V	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	7	796	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	238					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.714G>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245603	0.39697	.	.	ENSG00000117115	ENST00000444885	T	0.04809	3.55	4.71	4.71	0.59529	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.27909	N	0.938682	B	0.09022	0.002	B	0.06405	0.002	T	0.36335	-0.9752	8	0.15952	T	0.53	-28.9348	12.3297	0.55033	0.1696:0.8304:0.0:0.0	.	157	B4DIU3	.	L	157	ENSP00000405894:W157L	ENSP00000405894:W157L	W	-	2	0	PADI2	17285723	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.753000	0.38359	2.436000	0.82500	0.460000	0.39030	TGG		0.607	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			25	18	1	0	2.48779e-11	0.005443	3.93696e-11	25	18				
UBR4	23352	broad.mit.edu	37	1	19454761	19454761	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:19454761C>A	ENST00000375254.3	-	62	9082	c.9055G>T	c.(9055-9057)Ggg>Tgg	p.G3019W	UBR4_ENST00000375226.2_Missense_Mutation_p.G2995W|UBR4_ENST00000375267.2_Missense_Mutation_p.G3019W|UBR4_ENST00000375217.2_Missense_Mutation_p.G3012W	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3019					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTAGGGCCCCCTTGTCTTTC	0.433																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9055-9057)GGG>TGG		retinoblastoma-associated factor 600							146.0	154.0	151.0					1																	19454761		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19454761C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9055G>T	1.37:g.19454761C>A	ENSP00000364403:p.Gly3019Trp					UBR4_uc001bbk.1_Missense_Mutation_p.G666W	p.G3019W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	62	9059	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3019					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9055G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186743	0.78789	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24350	1.86;1.86;1.88;1.88	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.38134	-0.9675	10	0.72032	D	0.01	.	18.6269	0.91344	0.0:1.0:0.0:0.0	.	3019	Q5T4S7	UBR4_HUMAN	W	3019;3019;3012;2995;627;1705	ENSP00000364403:G3019W;ENSP00000364416:G3019W;ENSP00000364365:G3012W;ENSP00000364374:G2995W	ENSP00000364365:G3012W	G	-	1	0	UBR4	19327348	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	GGG		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		52	21	1	0	5.73376e-24	0.00361	1.10637e-23	52	21				
UBR4	23352	broad.mit.edu	37	1	19497254	19497254	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:19497254A>T	ENST00000375254.3	-	26	3671		c.e26+1		UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTTCTCTTACCCAGAGTAT	0.423																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.e26+1		retinoblastoma-associated factor 600							90.0	86.0	88.0					1																	19497254		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19497254A>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3643+1T>A	1.37:g.19497254A>T						UBR4_uc001bbm.1_Splice_Site_p.G426_splice	p.G1215_splice	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	26	3647	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)						A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37	c.3643_splice	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624321	0.87560	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0852	0.81042	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR4	19369841	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	8.935000	0.92923	2.279000	0.76181	0.533000	0.62120	.		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron	17	37	0	0	0	0.004007	0	17	37				
FAM76A	199870	broad.mit.edu	37	1	28087051	28087051	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:28087051A>T	ENST00000373954.6	+	9	985	c.883A>T	c.(883-885)Agc>Tgc	p.S295C	FAM76A_ENST00000419687.2_Missense_Mutation_p.S215C|FAM76A_ENST00000010299.6_Missense_Mutation_p.S329C|FAM76A_ENST00000234549.7_Missense_Mutation_p.S300C|FAM76A_ENST00000373949.1_Missense_Mutation_p.S266C	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	295										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGTCCAAGAGCAAGAAGTC	0.458																																							uc001boq.2		NA																	0					0						c.(883-885)AGC>TGC		hypothetical protein LOC199870 isoform 3							51.0	50.0	51.0					1																	28087051		2203	4300	6503	SO:0001583	missense	199870							g.chr1:28087051A>T	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.883A>T	1.37:g.28087051A>T	ENSP00000363065:p.Ser295Cys					FAM76A_uc001bor.2_Missense_Mutation_p.S329C|FAM76A_uc001bos.2_Missense_Mutation_p.S300C|FAM76A_uc001bot.2_Missense_Mutation_p.S266C|FAM76A_uc010ofm.1_Missense_Mutation_p.S215C	p.S295C	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	9	985	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	295			Potential.		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	c.883A>T	CCDS309.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280523	0.80692	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000234549;ENST00000373949;ENST00000010299	T;T	0.33438	1.42;1.41	5.85	4.73	0.59995	.	0.081748	0.52532	D	0.000070	T	0.33265	0.0857	L	0.34521	1.04	0.48185	D	0.999602	P;P;D;D;P	0.65815	0.599;0.956;0.995;0.992;0.766	B;P;P;P;P	0.58454	0.299;0.671;0.839;0.819;0.513	T	0.18871	-1.0323	10	0.72032	D	0.01	-20.6208	4.2682	0.10773	0.8145:0.0:0.1855:0.0	.	215;266;300;329;295	B4DWT3;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;FA76A_HUMAN	C	295;215;300;266;329	ENSP00000234549:S300C;ENSP00000010299:S329C	ENSP00000010299:S329C	S	+	1	0	FAM76A	27959638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.268000	0.72552	2.234000	0.73211	0.533000	0.62120	AGC		0.458	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		7	12	0	0	0	0.001984	0	7	12				
GJB4	127534	broad.mit.edu	37	1	35227444	35227444	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:35227444T>C	ENST00000339480.1	+	2	959	c.589T>C	c.(589-591)Tgc>Cgc	p.C197R	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	197					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTGCCATCTGCATCCTGCT	0.607																																							uc001bxv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(589-591)TGC>CGC		gap junction protein, beta 4							73.0	65.0	68.0					1																	35227444		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227444T>C		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.589T>C	1.37:g.35227444T>C	ENSP00000345868:p.Cys197Arg					GJB4_uc001bxw.3_Missense_Mutation_p.C197R	p.C197R	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	959	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	197			Helical; (Potential).		B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.589T>C	CCDS383.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380203	0.82682	.	.	ENSG00000189433	ENST00000339480	D	0.96459	-4.02	5.76	5.76	0.90799	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	.	15.7357	0.77842	0.0:0.0:0.0:1.0	.	197	Q9NTQ9	CXB4_HUMAN	R	197	ENSP00000345868:C197R	ENSP00000345868:C197R	C	+	1	0	GJB4	35000031	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.855000	0.86950	2.197000	0.70478	0.533000	0.62120	TGC		0.607	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		24	12	0	0	0	0.005443	0	24	12				
KIAA0319L	79932	broad.mit.edu	37	1	35916033	35916033	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:35916033C>T	ENST00000325722.3	-	14	2374	c.2140G>A	c.(2140-2142)Ggc>Agc	p.G714S	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.G151S	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	714	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTTAGAGCCATCCAGCTCT	0.488																																							uc001byx.2		NA																	0				skin(2)	2						c.(2140-2142)GGC>AGC		dyslexia susceptibility 2-like							145.0	126.0	133.0					1																	35916033		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916033C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2140G>A	1.37:g.35916033C>T	ENSP00000318406:p.Gly714Ser					KIAA0319L_uc001byw.2_Missense_Mutation_p.G156S|KIAA0319L_uc010ohv.1_Missense_Mutation_p.G356S	p.G714S	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			14	2398	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	714			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2140G>A	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549716	0.96501	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.81078	2.51;-1.45;2.51	5.87	5.87	0.94306	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89148	0.3521	10	0.87932	D	0	-16.856	19.2028	0.93717	0.0:1.0:0.0:0.0	.	714;714;156	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	S	714;151;714	ENSP00000318406:G714S;ENSP00000362363:G151S;ENSP00000395883:G714S	ENSP00000318406:G714S	G	-	1	0	KIAA0319L	35688620	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.247000	0.78257	2.785000	0.95823	0.591000	0.81541	GGC		0.488	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		5	59	0	0	0	0.000602	0	5	59				
SF3A3	10946	broad.mit.edu	37	1	38447413	38447413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:38447413G>C	ENST00000373019.4	-	7	1494	c.539C>G	c.(538-540)gCa>gGa	p.A180G	SF3A3_ENST00000448721.2_Missense_Mutation_p.A127G|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	180					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTATACTCTGCATTCTTCCT	0.353																																							uc001cci.2		NA																	0					0						c.(538-540)GCA>GGA		splicing factor 3a, subunit 3							155.0	161.0	159.0					1																	38447413		2203	4300	6503	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38447413G>C	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.539C>G	1.37:g.38447413G>C	ENSP00000362110:p.Ala180Gly					SF3A3_uc010oik.1_Missense_Mutation_p.A127G	p.A180G	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			7	663	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	180					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.539C>G	CCDS428.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800142	0.50208	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.38	5.38	0.77491	.	0.148902	0.64402	D	0.000012	T	0.45337	0.1337	L	0.37561	1.115	0.80722	D	1	B;P	0.36282	0.001;0.546	B;B	0.23852	0.002;0.049	T	0.39881	-0.9592	9	0.22706	T	0.39	-4.135	19.2066	0.93732	0.0:0.0:1.0:0.0	.	127;180	E7EUT8;Q12874	.;SF3A3_HUMAN	G	180;127	.	ENSP00000362110:A180G	A	-	2	0	SF3A3	38220000	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.789000	0.99068	2.542000	0.85734	0.644000	0.83932	GCA		0.353	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		41	15	0	0	0	0.00874	0	41	15				
MACF1	23499	broad.mit.edu	37	1	39888078	39888078	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:39888078G>A	ENST00000372915.3	+	58	15951	c.15864G>A	c.(15862-15864)caG>caA	p.Q5288Q	MACF1_ENST00000564288.1_Silent_p.Q5283Q|MACF1_ENST00000361689.2_Silent_p.Q3221Q|MACF1_ENST00000289893.4_Silent_p.Q3723Q|MACF1_ENST00000545844.1_Silent_p.Q3221Q|MACF1_ENST00000539005.1_Silent_p.Q3200Q|MACF1_ENST00000317713.7_Silent_p.Q3221Q|MACF1_ENST00000567887.1_Silent_p.Q5320Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5288					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCTCTTCAGATGAAATTGC	0.398																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11167-11169)CAG>CAA		microfilament and actin filament cross-linker							100.0	99.0	100.0					1																	39888078		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888078G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15864G>A	1.37:g.39888078G>A						MACF1_uc010ois.1_Silent_p.Q3221Q|MACF1_uc001cda.1_Silent_p.Q3108Q|MACF1_uc001cdc.1_Silent_p.Q2287Q	p.Q3723Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		23	11300	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5288			Spectrin 6.|LRR 21.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.11169G>A		.	.	.	.	.	.	.	.	.	.	G	7.555	0.663600	0.14710	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.73	1.84	0.25277	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50329	-0.8841	4	.	.	.	.	8.873	0.35327	0.3461:0.0:0.6539:0.0	.	.	.	.	N	2334	.	.	D	+	1	0	MACF1	39660665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.544000	0.53640	0.365000	0.24400	-0.143000	0.13931	GAT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		35	20	0	0	0	0.003755	0	35	20				
TMCO2	127391	broad.mit.edu	37	1	40713763	40713763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:40713763C>T	ENST00000372766.3	+	1	191	c.98C>T	c.(97-99)aCt>aTt	p.T33I	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	33						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGGGAGAGACTAGTGCACCT	0.398																																							uc001cfe.2		NA																	0				ovary(1)	1						c.(97-99)ACT>ATT		transmembrane and coiled-coil domains 2							193.0	192.0	193.0					1																	40713763		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40713763C>T	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.98C>T	1.37:g.40713763C>T	ENSP00000361852:p.Thr33Ile						p.T33I	NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	191	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	33						Missense_Mutation	SNP	ENST00000372766.3	37	c.98C>T	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788202	0.16258	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.48	4.48	0.54585	.	0.406518	0.21041	N	0.081179	T	0.42268	0.1195	L	0.29908	0.895	0.20638	N	0.999877	P	0.52061	0.95	P	0.52424	0.698	T	0.23368	-1.0190	9	0.46703	T	0.11	-6.4147	13.0313	0.58842	0.0:1.0:0.0:0.0	.	33	Q7Z6W1	TMCO2_HUMAN	I	33	.	ENSP00000361852:T33I	T	+	2	0	TMCO2	40486350	0.350000	0.24878	0.532000	0.27989	0.098000	0.18820	1.223000	0.32527	2.802000	0.96397	0.650000	0.86243	ACT		0.398	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		39	117	0	0	0	0.005524	0	39	117				
GPBP1L1	60313	broad.mit.edu	37	1	46120352	46120352	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:46120352T>A	ENST00000290795.3	-	5	1561	c.340A>T	c.(340-342)Aca>Tca	p.T114S	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.T114S			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	114					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGTTCCCTGTGCCACCTCCA	0.512																																							uc001coq.2		NA																	0				ovary(1)	1						c.(340-342)ACA>TCA		GC-rich promoter binding protein 1-like 1							86.0	75.0	79.0					1																	46120352		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120352T>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.340A>T	1.37:g.46120352T>A	ENSP00000290795:p.Thr114Ser						p.T114S	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			6	1701	-	Acute lymphoblastic leukemia(166;0.155)		114					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.340A>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687203	0.29962	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.44083	0.93;0.93	5.95	-0.771	0.11002	.	0.701413	0.15352	N	0.266935	T	0.15435	0.0372	N	0.11427	0.14	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.20042	-1.0287	10	0.09338	T	0.73	-7.3751	2.0677	0.03606	0.122:0.3007:0.1254:0.4519	.	114	Q9HC44	GPBL1_HUMAN	S	114	ENSP00000290795:T114S;ENSP00000347224:T114S	ENSP00000290795:T114S	T	-	1	0	GPBP1L1	45892939	0.999000	0.42202	0.048000	0.18961	0.545000	0.35147	0.970000	0.29383	-0.087000	0.12528	-0.256000	0.11100	ACA		0.512	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		33	16	0	0	0	0.003271	0	33	16				
ZFYVE9	9372	broad.mit.edu	37	1	52698947	52698947	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:52698947A>T	ENST00000371591.1	+	2	200	c.69A>T	c.(67-69)gaA>gaT	p.E23D	ZFYVE9_ENST00000357206.2_Splice_Site_p.E23D|ZFYVE9_ENST00000287727.3_Splice_Site_p.E23D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	23					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AACAAAACGAAGGTGAGAATT	0.363																																							uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(67-69)GAA>GAT		zinc finger, FYVE domain containing 9 isoform 3							122.0	125.0	124.0					1																	52698947		2203	4300	6503	SO:0001630	splice_region_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52698947A>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.70+1A>T	1.37:g.52698947A>T						ZFYVE9_uc001ctn.2_Missense_Mutation_p.E23D|ZFYVE9_uc001ctp.2_Missense_Mutation_p.E23D	p.E23D	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			3	241	+			23					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.69A>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276163	0.80580	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.62639	0.39;0.01;0.61;0.61	4.54	4.54	0.55810	.	0.000000	0.46145	D	0.000311	T	0.57388	0.2050	L	0.27053	0.805	0.47994	D	0.999562	P;P;D	0.56521	0.834;0.745;0.976	B;B;P	0.52066	0.372;0.205;0.689	T	0.53129	-0.8482	10	0.20519	T	0.43	.	14.3201	0.66479	1.0:0.0:0.0:0.0	.	23;23;23	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	23	ENSP00000349737:E23D;ENSP00000355358:E23D;ENSP00000287727:E23D;ENSP00000360647:E23D	ENSP00000287727:E23D	E	+	3	2	ZFYVE9	52471535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.653000	0.91088	2.021000	0.59480	0.482000	0.46254	GAA		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Missense_Mutation	22	8	0	0	0	0.00333	0	22	8				
ZFYVE9	9372	broad.mit.edu	37	1	52704586	52704586	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:52704586A>G	ENST00000371591.1	+	3	1628	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	ZFYVE9_ENST00000357206.2_Silent_p.E499E|ZFYVE9_ENST00000287727.3_Silent_p.E499E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	499					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCAAAGAAGATTCAGTAA	0.393																																							uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1495-1497)GAA>GAG		zinc finger, FYVE domain containing 9 isoform 3							65.0	68.0	67.0					1																	52704586		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704586A>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1497A>G	1.37:g.52704586A>G						ZFYVE9_uc001ctn.2_Silent_p.E499E|ZFYVE9_uc001ctp.2_Silent_p.E499E	p.E499E	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1669	+			499					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.1497A>G	CCDS563.1																																																																																				0.393	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		3	59	0	0	0	0.004672	0	3	59				
CC2D1B	200014	broad.mit.edu	37	1	52823548	52823548	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:52823548G>C	ENST00000371586.2	-	14	1640	c.1502C>G	c.(1501-1503)cCa>cGa	p.P501R	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P495R	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	501						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTGGCCACTGGGGCCTGTGC	0.627																																							uc001ctq.1		NA																	0				ovary(2)	2						c.(1501-1503)CCA>CGA		coiled-coil and C2 domain containing 1B							52.0	58.0	56.0					1																	52823548		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52823548G>C	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1502C>G	1.37:g.52823548G>C	ENSP00000360642:p.Pro501Arg					CC2D1B_uc001ctr.2_Missense_Mutation_p.P41R|CC2D1B_uc001cts.2_Missense_Mutation_p.P186R	p.P501R	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			14	1640	-			501					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1502C>G	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.796739|3.796739	0.70567|0.70567	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.26373|.	1.74;1.99|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.540336|.	0.20426|.	N|.	0.092568|.	T|T	0.73329|0.73329	0.3573|0.3573	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.985;0.998;1.0|.	P;D;D|.	0.85130|.	0.724;0.962;0.997|.	T|T	0.72261|0.72261	-0.4345|-0.4345	10|5	0.62326|.	D|.	0.03|.	-9.8904|-9.8904	14.5378|14.5378	0.67973|0.67973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	281;495;501|.	Q5T0G1;Q5T0F9-2;Q5T0F9|.	.;.;C2D1B_HUMAN|.	R|E	501;495;409|282;415	ENSP00000360642:P501R;ENSP00000284376:P495R|.	ENSP00000284376:P495R|.	P|Q	-|-	2|1	0|0	CC2D1B|CC2D1B	52596136|52596136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	5.083000|5.083000	0.64456|0.64456	2.811000|2.811000	0.96726|0.96726	0.556000|0.556000	0.70494|0.70494	CCA|CAG		0.627	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		27	6	0	0	0	0.007291	0	27	6				
C8A	731	broad.mit.edu	37	1	57320623	57320623	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:57320623G>T	ENST00000361249.3	+	1	145	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	17					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTGTCAGCCTGGGGTAACTGC	0.443																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(49-51)GGG>TGG		complement component 8, alpha polypeptide							182.0	144.0	157.0					1																	57320623		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57320623G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.49G>T	1.37:g.57320623G>T	ENSP00000354458:p.Gly17Trp						p.G17W	NM_000562	NP_000553	P07357	CO8A_HUMAN			1	181	+			17					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.49G>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133383	0.56828	.	.	ENSG00000157131	ENST00000361249	T	0.76578	-1.03	4.94	2.98	0.34508	.	1.375330	0.04541	N	0.388235	T	0.80138	0.4568	L	0.39898	1.24	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.64659	-0.6355	10	0.66056	D	0.02	-11.573	5.8998	0.18960	0.1053:0.2124:0.6823:0.0	.	17	P07357	CO8A_HUMAN	W	17	ENSP00000354458:G17W	ENSP00000354458:G17W	G	+	1	0	C8A	57093211	0.000000	0.05858	0.542000	0.28115	0.999000	0.98932	0.291000	0.18994	1.309000	0.44985	0.655000	0.94253	GGG		0.443	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		15	3	1	0	4.75885e-15	0.00499	8.12053e-15	15	3				
DAB1	1600	broad.mit.edu	37	1	57480922	57480922	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:57480922G>T	ENST00000371231.1	-	13	1211	c.1177C>A	c.(1177-1179)Cag>Aag	p.Q393K	DAB1_ENST00000439789.2_Missense_Mutation_p.Q274K|DAB1_ENST00000371234.4_Missense_Mutation_p.Q360K|DAB1_ENST00000414851.2_Missense_Mutation_p.Q342K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q358K|DAB1_ENST00000371236.2_Missense_Mutation_p.Q360K|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	393					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCGGAAACTGCCCGGCCACA	0.657																																							uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.(1078-1080)CAG>AAG		disabled homolog 1							69.0	64.0	66.0					1																	57480922		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480922G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1177C>A	1.37:g.57480922G>T	ENSP00000360275:p.Gln393Lys					DAB1_uc001cyt.1_Missense_Mutation_p.Q358K|DAB1_uc001cyq.1_Missense_Mutation_p.Q358K|DAB1_uc001cyr.1_Missense_Mutation_p.Q274K|DAB1_uc009vzw.1_Missense_Mutation_p.Q342K|DAB1_uc009vzx.1_Missense_Mutation_p.Q360K	p.Q360K	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1752	-			393					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1078C>A		.	.	.	.	.	.	.	.	.	.	G	16.01	3.002590	0.54254	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.48201	0.87;0.87;0.83;0.82;1.86;0.85	5.54	5.54	0.83059	.	0.167101	0.53938	D	0.000054	T	0.44095	0.1277	L	0.40543	1.245	0.45567	D	0.998517	P;P;P;P;P	0.45348	0.683;0.775;0.622;0.73;0.856	B;B;B;B;P	0.46026	0.288;0.304;0.364;0.351;0.501	T	0.26018	-1.0115	10	0.02654	T	1	-49.6973	19.6787	0.95950	0.0:0.0:1.0:0.0	.	342;393;360;274;358	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	K	360;360;360;358;342;274;393	ENSP00000360280:Q360K;ENSP00000360278:Q360K;ENSP00000395296:Q358K;ENSP00000387581:Q342K;ENSP00000409328:Q274K;ENSP00000360275:Q393K	ENSP00000360275:Q393K	Q	-	1	0	DAB1	57253510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.811000	0.62606	2.890000	0.99128	0.650000	0.86243	CAG		0.657	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		21	46	1	0	1.55469e-16	0.00333	2.75083e-16	21	46				
MIER1	57708	broad.mit.edu	37	1	67442278	67442278	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:67442278G>T	ENST00000355356.3	+	11	1092	c.943G>T	c.(943-945)Gtc>Ttc	p.V315F	MIER1_ENST00000371016.1_Splice_Site_p.V332F|MIER1_ENST00000371018.3_Splice_Site_p.V332F|MIER1_ENST00000357692.2_Splice_Site_p.V332F|MIER1_ENST00000401042.3_Splice_Site_p.V315F|MIER1_ENST00000355977.6_Splice_Site_p.V252F|MIER1_ENST00000401041.1_Splice_Site_p.V368F|MIER1_ENST00000371014.1_Splice_Site_p.V368F	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	315	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTTCTTACAGGTCCGAACAAG	0.333																																							uc001dde.2		NA																	0				ovary(1)	1						c.(1102-1104)GTC>TTC		mesoderm induction early response 1 isoform b							104.0	98.0	100.0					1																	67442278		1863	4114	5977	SO:0001630	splice_region_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67442278G>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.943-1G>T	1.37:g.67442278G>T						MIER1_uc010opf.1_Missense_Mutation_p.V332F|MIER1_uc009way.2_Missense_Mutation_p.V332F|MIER1_uc001ddc.2_Missense_Mutation_p.V368F|MIER1_uc001ddh.2_Missense_Mutation_p.V252F|MIER1_uc001ddf.2_Missense_Mutation_p.V332F|MIER1_uc001ddg.2_Missense_Mutation_p.V288F|MIER1_uc010opg.1_Missense_Mutation_p.V332F|MIER1_uc001ddj.1_Missense_Mutation_p.V315F|MIER1_uc001ddi.2_Missense_Mutation_p.V315F	p.V368F	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN			12	1236	+			339			SANT.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.1102G>T	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656920	0.88154	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.54279	0.58;1.52;0.58;0.58;0.58;0.58;0.58;0.58	5.53	5.53	0.82687	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.86343	2.81	0.80722	D	1	P;D;D;D;D;D;D;P;D	0.76494	0.845;0.998;0.999;0.999;0.998;0.998;0.996;0.552;0.997	P;P;D;D;D;P;D;B;D	0.85130	0.593;0.897;0.997;0.996;0.991;0.897;0.919;0.335;0.929	T	0.75883	-0.3160	9	.	.	.	-45.251	19.85	0.96736	0.0:0.0:1.0:0.0	.	332;332;315;315;252;339;332;368;368	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	F	336;332;252;332;368;332;368;315;315	ENSP00000360057:V332F;ENSP00000348253:V252F;ENSP00000350321:V332F;ENSP00000383820:V368F;ENSP00000360055:V332F;ENSP00000360053:V368F;ENSP00000383821:V315F;ENSP00000347514:V315F	.	V	+	1	0	MIER1	67214866	1.000000	0.71417	0.998000	0.56505	0.752000	0.42762	9.476000	0.97823	2.771000	0.95319	0.650000	0.86243	GTC		0.333	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	Missense_Mutation	28	34	1	0	3.65163e-15	0.00632	6.25341e-15	28	34				
LHX8	431707	broad.mit.edu	37	1	75622645	75622645	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:75622645C>A	ENST00000294638.5	+	9	1542	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	LHX8_ENST00000356261.3_Missense_Mutation_p.P283Q	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TCCTCCACCCCAGTCACAGCA	0.512																																							uc001dgo.2		NA																	0				ovary(3)	3						c.(877-879)CCA>CAA		LIM homeobox 8							280.0	246.0	258.0					1																	75622645		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622645C>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.878C>A	1.37:g.75622645C>A	ENSP00000294638:p.Pro293Gln					LHX8_uc001dgq.2_Missense_Mutation_p.P232Q	p.P293Q	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			9	1542	+			293					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.878C>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243800	0.79912	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87491	-2.26;-2.24	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.78240	0.4252	L	0.55481	1.735	0.80722	D	1	P	0.38978	0.652	B	0.29785	0.107	T	0.80480	-0.1364	10	0.39692	T	0.17	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	Q	293;283	ENSP00000294638:P293Q;ENSP00000348597:P283Q	ENSP00000294638:P293Q	P	+	2	0	LHX8	75395233	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA		0.512	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		21	109	1	0	4.35082e-09	0.001523	6.52963e-09	21	109				
RPF1	80135	broad.mit.edu	37	1	84961575	84961575	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:84961575A>G	ENST00000370654.5	+	7	725	c.710A>G	c.(709-711)aAg>aGg	p.K237R	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	237	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGAAGAGGCAAGGACCCCACA	0.348																																							uc001djv.3		NA																	0					0						c.(709-711)AAG>AGG		RNA processing factor 1							64.0	63.0	63.0					1																	84961575		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961575A>G	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.710A>G	1.37:g.84961575A>G	ENSP00000359688:p.Lys237Arg						p.K237R	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			7	755	+			237			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.710A>G	CCDS695.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744061	0.49151	.	.	ENSG00000117133	ENST00000370654	T	0.24151	1.87	5.96	5.96	0.96718	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.08758	0.0217	L	0.28274	0.84	0.80722	D	1	P	0.38827	0.649	B	0.36030	0.216	T	0.09314	-1.0680	10	0.11182	T	0.66	-10.2577	16.4484	0.83959	1.0:0.0:0.0:0.0	.	237	Q9H9Y2	RPF1_HUMAN	R	237	ENSP00000359688:K237R	ENSP00000359688:K237R	K	+	2	0	RPF1	84734163	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	8.939000	0.92951	2.285000	0.76669	0.533000	0.62120	AAG		0.348	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		13	20	0	0	0	0.003163	0	13	20				
SYDE2	84144	broad.mit.edu	37	1	85648430	85648430	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:85648430T>A	ENST00000341460.5	-	3	1944	c.1895A>T	c.(1894-1896)aAa>aTa	p.K632I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	632					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTGCTAGCTTTAGTTGTAAG	0.363																																							uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1894-1896)AAA>ATA		synapse defective 1, Rho GTPase, homolog 2							92.0	83.0	86.0					1																	85648430		1838	4092	5930	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648430T>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1895A>T	1.37:g.85648430T>A	ENSP00000340594:p.Lys632Ile					SYDE2_uc001dku.3_Missense_Mutation_p.K632I	p.K632I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1944	-			632					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1895A>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422796	0.62733	.	.	ENSG00000097096	ENST00000341460	T	0.12984	2.63	5.56	4.43	0.53597	.	0.047201	0.85682	D	0.000000	T	0.23410	0.0566	M	0.73598	2.24	0.40737	D	0.98279	D;D	0.76494	0.997;0.999	P;D	0.71870	0.907;0.975	T	0.02713	-1.1120	10	0.72032	D	0.01	.	10.6401	0.45588	0.0:0.0765:0.0:0.9235	.	632;632	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	I	632	ENSP00000340594:K632I	ENSP00000340594:K632I	K	-	2	0	SYDE2	85421018	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.920000	0.70017	0.957000	0.37930	0.454000	0.30748	AAA		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			11	38	0	0	0	0.008291	0	11	38				
CLCA4	22802	broad.mit.edu	37	1	87041235	87041235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:87041235C>A	ENST00000370563.3	+	11	1946	c.1904C>A	c.(1903-1905)tCa>tAa	p.S635*	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	635					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTCATTGAATCACAGAATGGA	0.378																																							uc009wcs.2		NA																	0				ovary(2)	2						c.(1903-1905)TCA>TAA		chloride channel accessory 4							144.0	133.0	136.0					1																	87041235		1888	4123	6011	SO:0001587	stop_gained	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041235C>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1904C>A	1.37:g.87041235C>A	ENSP00000359594:p.Ser635*					CLCA4_uc009wct.2_Nonsense_Mutation_p.S398*|CLCA4_uc009wcu.2_Nonsense_Mutation_p.S455*	p.S635*	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1948	+		Lung NSC(277;0.238)	635					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	ENST00000370563.3	37	c.1904C>A	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	38	7.246272	0.98161	.	.	ENSG00000016602	ENST00000370563	.	.	.	5.97	5.97	0.96955	.	0.450619	0.21309	N	0.076672	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5607	20.0189	0.97489	0.0:1.0:0.0:0.0	.	.	.	.	X	635	.	ENSP00000359594:S635X	S	+	2	0	CLCA4	86813823	0.991000	0.36638	0.971000	0.41717	0.993000	0.82548	3.307000	0.51888	2.834000	0.97654	0.650000	0.86243	TCA		0.378	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		59	61	1	0	5.73376e-24	0.00361	1.10637e-23	59	61				
TGFBR3	7049	broad.mit.edu	37	1	92161253	92161253	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:92161253A>G	ENST00000525962.1	-	15	2474	c.2413T>C	c.(2413-2415)Ttg>Ctg	p.L805L	TGFBR3_ENST00000370399.2_Silent_p.L804L|TGFBR3_ENST00000212355.4_Silent_p.L805L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	805					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATGTACCACAAGGCCCCCGTC	0.478																																							uc001doh.2		NA																	0				ovary(3)	3						c.(2413-2415)TTG>CTG		transforming growth factor, beta receptor III							139.0	119.0	126.0					1																	92161253		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92161253A>G	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2413T>C	1.37:g.92161253A>G						TGFBR3_uc009wde.2_Silent_p.L500L|TGFBR3_uc010osy.1_Silent_p.L763L|TGFBR3_uc001doi.2_Silent_p.L804L|TGFBR3_uc001doj.2_Silent_p.L804L	p.L805L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	16	2879	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	805			Helical; (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.2413T>C	CCDS30770.1																																																																																				0.478	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		19	59	0	0	0	0.001882	0	19	59				
TGFBR3	7049	broad.mit.edu	37	1	92193305	92193306	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:92193305_92193306CC>GT	ENST00000525962.1	-	6	856_857	c.795_796GG>AC	c.(793-798)gtGGtc>gtACtc	p.V266L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.V266L|TGFBR3_ENST00000468996.2_5'Flank|TGFBR3_ENST00000212355.4_Missense_Mutation_p.V266L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	266					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGATTTTTGACCACTTCAAGAT	0.386																																							uc001doh.2		NA																	0				ovary(3)	3						c.(793-798)GTGGTC>GTACTC		transforming growth factor, beta receptor III																																				SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92193305_92193306CC>GT	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.795_796delinsGT	1.37:g.92193305_92193306delinsGT	ENSP00000436127:p.Val266Leu					TGFBR3_uc009wde.2_Missense_Mutation_p.V44L|TGFBR3_uc010osy.1_Missense_Mutation_p.V224L|TGFBR3_uc001doi.2_Missense_Mutation_p.V266L|TGFBR3_uc001doj.2_Missense_Mutation_p.V266L	p.V266L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	7	1261_1262	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	266			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	DNP	ENST00000525962.1	37	c.795_796GG>AC	CCDS30770.1																																																																																				0.386	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		21	47	0	0	0	0.004672	0	21	47				
ABCA4	24	broad.mit.edu	37	1	94506797	94506797	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:94506797T>C	ENST00000370225.3	-	23	3576	c.3490A>G	c.(3490-3492)Aaa>Gaa	p.K1164E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1164					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGATGTTTTTCATCTTGCGC	0.567																																							uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3490-3492)AAA>GAA		ATP-binding cassette, sub-family A member 4							120.0	112.0	114.0					1																	94506797		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506797T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3490A>G	1.37:g.94506797T>C	ENSP00000359245:p.Lys1164Glu						p.K1164E	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3594	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1164			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3490A>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420060	0.42918	.	.	ENSG00000198691	ENST00000370225	D	0.90385	-2.66	5.75	5.75	0.90469	.	0.563879	0.19255	N	0.118825	T	0.77308	0.4111	L	0.42581	1.335	0.80722	D	1	B	0.19583	0.037	B	0.17098	0.017	T	0.72727	-0.4206	10	0.02654	T	1	.	16.0518	0.80769	0.0:0.0:0.0:1.0	.	1164	P78363	ABCA4_HUMAN	E	1164	ENSP00000359245:K1164E	ENSP00000359245:K1164E	K	-	1	0	ABCA4	94279385	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	4.837000	0.62796	2.191000	0.70037	0.533000	0.62120	AAA		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	56	0	0	0	0.00245	0	14	56				
DPYD	1806	broad.mit.edu	37	1	97700500	97700500	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:97700500C>A	ENST00000370192.3	-	19	2450	c.2350G>T	c.(2350-2352)Gct>Tct	p.A784S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	784					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCAGGCAGAGCACGAGCAATG	0.463																																							uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2350-2352)GCT>TCT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						116.0	95.0	102.0					1																	97700500		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97700500C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2350G>T	1.37:g.97700500C>A	ENSP00000359211:p.Ala784Ser						p.A784S	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	19	2487	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	784					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2350G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447136	0.25987	.	.	ENSG00000188641	ENST00000370192	T	0.77098	-1.07	5.74	4.83	0.62350	Aldolase-type TIM barrel (1);	0.054101	0.64402	D	0.000001	T	0.65260	0.2674	M	0.76002	2.32	0.80722	D	1	B	0.15719	0.014	B	0.27500	0.08	T	0.65236	-0.6217	10	0.12430	T	0.62	-12.7181	14.7288	0.69365	0.0:0.9305:0.0:0.0695	.	784	Q12882	DPYD_HUMAN	S	784	ENSP00000359211:A784S	ENSP00000359211:A784S	A	-	1	0	DPYD	97473088	1.000000	0.71417	0.995000	0.50966	0.482000	0.33219	7.487000	0.81328	1.442000	0.47568	-0.259000	0.10710	GCT		0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		18	15	1	0	0.000566183	0.00499	0.000727841	18	15				
S1PR1	1901	broad.mit.edu	37	1	101705298	101705298	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:101705298C>T	ENST00000305352.6	+	2	1133	c.758C>T	c.(757-759)gCg>gTg	p.A253V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	253					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AAGTCGCTGGCGCTGCTCAAG	0.587																																							uc001dud.2		NA																	0				ovary(2)|lung(1)	3						c.(757-759)GCG>GTG		sphingosine-1-phosphate receptor 1							77.0	79.0	78.0					1																	101705298		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705298C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.758C>T	1.37:g.101705298C>T	ENSP00000305416:p.Ala253Val					S1PR1_uc009weg.2_Missense_Mutation_p.A253V	p.A253V	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1272	+			253			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.758C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473302	0.84640	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.37584	1.19	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.73753	2.245	0.58432	D	0.999999	D	0.89917	1.0	D	0.67900	0.954	T	0.59778	-0.7390	10	0.72032	D	0.01	.	18.848	0.92215	0.0:1.0:0.0:0.0	.	253	P21453	S1PR1_HUMAN	V	253	ENSP00000305416:A253V	ENSP00000305416:A253V	A	+	2	0	S1PR1	101477886	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.818000	0.86416	2.438000	0.82558	0.449000	0.29647	GCG		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		55	42	0	0	0	0.00361	0	55	42				
VAV3	10451	broad.mit.edu	37	1	108116723	108116723	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:108116723C>T	ENST00000370056.4	-	26	2722	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Silent_p.K220K|VAV3_ENST00000415432.2_Silent_p.K256K|VAV3_ENST00000527011.1_Silent_p.K844K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	816	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTGTGTAAATCTTCACCACAT	0.478																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(2446-2448)AAG>AAA		vav 3 guanine nucleotide exchange factor isoform							282.0	250.0	261.0					1																	108116723		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108116723C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2448G>A	1.37:g.108116723C>T						VAV3_uc010ouu.1_Silent_p.K248K|VAV3_uc001dvj.1_Silent_p.K256K|VAV3_uc010ouv.1_Silent_p.K220K|VAV3_uc010ouw.1_Silent_p.K844K	p.K816K	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	26	2502	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	816			SH3 2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.2448G>A	CCDS785.1																																																																																				0.478	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		81	143	0	0	0	0.00361	0	81	143				
AKNAD1	254268	broad.mit.edu	37	1	109377570	109377570	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109377570A>G	ENST00000370001.3	-	8	1913	c.1645T>C	c.(1645-1647)Tgt>Cgt	p.C549R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.C256R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.C519R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C549R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	549						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GCCAGCTCACAGAGCTCCTCG	0.667																																							uc001dwa.2		NA																	0				ovary(3)	3						c.(1645-1647)TGT>CGT		hypothetical protein LOC254268							37.0	38.0	38.0					1																	109377570		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109377570A>G	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1645T>C	1.37:g.109377570A>G	ENSP00000359018:p.Cys549Arg					AKNAD1_uc010ovb.1_Missense_Mutation_p.C256R|AKNAD1_uc001dwb.2_Intron	p.C549R	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			8	1914	-			549					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1645T>C	CCDS791.2	.	.	.	.	.	.	.	.	.	.	A	2.797	-0.250003	0.05867	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.16897	3.12;2.31;3.01;3.09	1.72	-3.44	0.04796	.	.	.	.	.	T	0.02848	0.0085	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.41998	-0.9477	9	0.59425	D	0.04	19.6516	0.305	0.00279	0.2027:0.1979:0.2061:0.3933	.	256;549	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	549;256;519;549	ENSP00000359018:C549R;ENSP00000349968:C256R;ENSP00000359011:C519R;ENSP00000359012:C549R	ENSP00000349968:C256R	C	-	1	0	AKNAD1	109179093	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.497000	0.00225	-1.605000	0.01593	-0.496000	0.04628	TGT		0.667	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		12	68	0	0	0	0.000978	0	12	68				
AKNAD1	254268	broad.mit.edu	37	1	109385883	109385883	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109385883C>T	ENST00000370001.3	-	6	1520	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	AKNAD1_ENST00000357393.4_Missense_Mutation_p.E125K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E418K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E418K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	418						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCAGTTTCTCCAGGACCTGC	0.493																																							uc001dwa.2		NA																	0				ovary(3)	3						c.(1252-1254)GAG>AAG		hypothetical protein LOC254268							87.0	78.0	81.0					1																	109385883		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109385883C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1252G>A	1.37:g.109385883C>T	ENSP00000359018:p.Glu418Lys					AKNAD1_uc010ovb.1_Missense_Mutation_p.E125K|AKNAD1_uc001dwb.2_RNA	p.E418K	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			6	1521	-			418			Potential.		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1252G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294802	0.40594	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.29	1.27	0.21489	.	0.452575	0.21106	N	0.080066	T	0.04815	0.0130	N	0.12182	0.205	0.26692	N	0.971327	P;P	0.39094	0.644;0.659	B;B	0.38921	0.223;0.285	T	0.26224	-1.0109	10	0.26408	T	0.33	0.2287	3.8166	0.08818	0.0:0.3913:0.1838:0.4249	.	125;418	B4DET8;Q5T1N1	.;AKND1_HUMAN	K	418;125;418;418	ENSP00000359018:E418K;ENSP00000349968:E125K;ENSP00000359011:E418K;ENSP00000359012:E418K	ENSP00000349968:E125K	E	-	1	0	AKNAD1	109187406	0.993000	0.37304	0.872000	0.34217	0.867000	0.49689	0.158000	0.16422	0.361000	0.24292	0.591000	0.81541	GAG		0.493	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		31	34	0	0	0	0.003755	0	31	34				
CLCC1	23155	broad.mit.edu	37	1	109493041	109493041	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109493041G>A	ENST00000369971.2	-	2	148	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.L7F|CLCC1_ENST00000348264.2_Missense_Mutation_p.L7F|CLCC1_ENST00000415331.1_Missense_Mutation_p.L7F|CLCC1_ENST00000369968.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369969.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369976.1_Missense_Mutation_p.L7F|CLCC1_ENST00000369970.3_Missense_Mutation_p.L7F|CLCC1_ENST00000302500.4_Missense_Mutation_p.L7F	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	7						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CATTCACAAAGGAGCAAAGAA	0.338																																							uc001dwe.1		NA																	0				liver(1)	1						c.(19-21)CTT>TTT		Mid-1-related chloride channel 1 isoform 1							83.0	71.0	75.0					1																	109493041		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109493041G>A	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.19C>T	1.37:g.109493041G>A	ENSP00000358988:p.Leu7Phe					AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.L7F|CLCC1_uc001dwg.1_Missense_Mutation_p.L7F|CLCC1_uc009wes.1_Missense_Mutation_p.L7F|CLCC1_uc009wet.1_Missense_Mutation_p.L7F|CLCC1_uc001dwh.1_Missense_Mutation_p.L7F	p.L7F	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	2	111	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	7					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.19C>T	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805519	0.16467	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.5	3.64	0.41730	.	0.220574	0.39407	N	0.001378	T	0.41003	0.1140	M	0.72118	2.19	0.22796	N	0.998722	B;B;B;B	0.33477	0.36;0.36;0.36;0.413	B;B;B;B	0.36186	0.139;0.139;0.139;0.219	T	0.40739	-0.9547	10	0.87932	D	0	-11.5011	10.7633	0.46277	0.213:0.0:0.787:0.0	.	7;7;7;7	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	F	7	ENSP00000349456:L7F;ENSP00000358988:L7F;ENSP00000411591:L7F;ENSP00000358986:L7F;ENSP00000358985:L7F;ENSP00000358993:L7F;ENSP00000358987:L7F;ENSP00000337243:L7F;ENSP00000306552:L7F	ENSP00000306552:L7F	L	-	1	0	CLCC1	109294564	0.762000	0.28451	0.996000	0.52242	0.044000	0.14063	0.200000	0.17257	0.814000	0.34374	0.591000	0.81541	CTT		0.338	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		29	43	0	0	0	0.007291	0	29	43				
WDR77	79084	broad.mit.edu	37	1	111983962	111983962	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:111983962G>A	ENST00000235090.5	-	10	1125	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S	WDR77_ENST00000411751.2_Missense_Mutation_p.P243S|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	307					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.P307>?(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGATTGAGCGGGGACCAAGTC	0.542																																							uc001ebb.2		NA																	1	Complex(1)		NS(1)		0						c.(919-921)CCG>TCG		WD repeat domain 77							106.0	99.0	101.0					1																	111983962		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983962G>A	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.919C>T	1.37:g.111983962G>A	ENSP00000235090:p.Pro307Ser					WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.P243S	p.P307S	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	958	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	307					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.919C>T	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287875	0.95517	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.40756	1.1;1.02	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.147023	0.64402	D	0.000008	T	0.50188	0.1601	L	0.60455	1.87	0.58432	D	0.999996	B;D	0.53151	0.159;0.958	B;P	0.55455	0.25;0.776	T	0.46830	-0.9163	10	0.59425	D	0.04	-6.9995	19.9003	0.96983	0.0:0.0:1.0:0.0	.	243;307	B4DP38;Q9BQA1	.;MEP50_HUMAN	S	307;243	ENSP00000235090:P307S;ENSP00000400321:P243S	ENSP00000235090:P307S	P	-	1	0	WDR77	111785485	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	8.456000	0.90359	2.808000	0.96608	0.655000	0.94253	CCG		0.542	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		39	53	0	0	0	0.00874	0	39	53				
KCND3	3752	broad.mit.edu	37	1	112524607	112524607	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:112524607C>G	ENST00000315987.2	-	2	1221	c.742G>C	c.(742-744)Gct>Cct	p.A248P	KCND3_ENST00000369697.1_Missense_Mutation_p.A248P|KCND3_ENST00000302127.4_Missense_Mutation_p.A248P	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	248					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGGCTGGGAGCCGCGAAGAGC	0.622																																							uc001ebu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(742-744)GCT>CCT		potassium voltage-gated channel, Shal-related							34.0	37.0	36.0					1																	112524607		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524607C>G	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.742G>C	1.37:g.112524607C>G	ENSP00000319591:p.Ala248Pro					KCND3_uc001ebv.1_Missense_Mutation_p.A248P	p.A248P	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1222	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	248			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.742G>C	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928460	0.73327	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97941	-4.62;-4.62;-4.62	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.996	D	0.99239	1.0884	10	0.87932	D	0	.	18.9981	0.92821	0.0:1.0:0.0:0.0	.	248;248	Q14D71;Q9UK17	.;KCND3_HUMAN	P	248	ENSP00000358711:A248P;ENSP00000319591:A248P;ENSP00000306923:A248P	ENSP00000306923:A248P	A	-	1	0	KCND3	112326130	1.000000	0.71417	0.359000	0.25824	0.989000	0.77384	5.920000	0.70017	2.590000	0.87494	0.563000	0.77884	GCT		0.622	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		22	35	0	0	0	0.002299	0	22	35				
MAGI3	260425	broad.mit.edu	37	1	114186388	114186388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:114186388G>T	ENST00000307546.9	+	11	2065	c.1990G>T	c.(1990-1992)Gcc>Tcc	p.A664S	MAGI3_ENST00000369615.1_Missense_Mutation_p.A664S|MAGI3_ENST00000369617.4_Missense_Mutation_p.A689S|MAGI3_ENST00000369611.4_Missense_Mutation_p.A664S	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	689	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCAAAACTGCCAAAATGGT	0.413																																							uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1990-1992)GCC>TCC		membrane-associated guanylate kinase-related  3							157.0	141.0	146.0					1																	114186388		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114186388G>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1990G>T	1.37:g.114186388G>T	ENSP00000304604:p.Ala664Ser					MAGI3_uc001edh.3_Missense_Mutation_p.A689S|MAGI3_uc001edi.3_Missense_Mutation_p.A664S|MAGI3_uc010owm.1_Missense_Mutation_p.A689S|MAGI3_uc001edj.2_Missense_Mutation_p.A385S	p.A664S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2171	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	689					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1990G>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245950	0.22796	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.14266	2.66;2.52;2.65;2.65	5.34	0.818	0.18778	.	0.713412	0.14402	N	0.321847	T	0.01870	0.0059	N	0.08118	0	0.25318	N	0.989147	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.45906	-0.9229	10	0.41790	T	0.15	-21.5333	7.1736	0.25732	0.3652:0.0:0.5201:0.1146	.	664;664;689	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	S	689;664;664;664	ENSP00000358630:A689S;ENSP00000304604:A664S;ENSP00000358628:A664S;ENSP00000358624:A664S	ENSP00000304604:A664S	A	+	1	0	MAGI3	113987911	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	0.875000	0.28079	-0.023000	0.13963	-1.094000	0.02160	GCC		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		33	63	1	0	3.62531e-18	0.004289	6.5971e-18	33	63				
SPAG17	200162	broad.mit.edu	37	1	118535194	118535194	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:118535194G>T	ENST00000336338.5	-	36	5321	c.5256C>A	c.(5254-5256)gcC>gcA	p.A1752A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1752						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGGCACCCGGGGCACTCACTA	0.468																																							uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5254-5256)GCC>GCA		sperm associated antigen 17							94.0	93.0	94.0					1																	118535194		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118535194G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5256C>A	1.37:g.118535194G>T							p.A1752A	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	36	5324	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1752					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5256C>A	CCDS899.1																																																																																				0.468	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		32	43	1	0	3.80469e-20	0.001786	7.14032e-20	32	43				
HAO2	51179	broad.mit.edu	37	1	119927430	119927430	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:119927430C>A	ENST00000325945.3	+	4	388	c.315C>A	c.(313-315)acC>acA	p.T105T	HAO2_ENST00000361035.4_Silent_p.T118T	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	105	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCTACATCACCAGCACATTTG	0.547																																							uc001ehq.1		NA																	0				ovary(2)|skin(2)	4						c.(313-315)ACC>ACA		hydroxyacid oxidase 2							77.0	70.0	73.0					1																	119927430		2203	4300	6503	SO:0001819	synonymous_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119927430C>A	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.315C>A	1.37:g.119927430C>A						HAO2_uc001ehr.1_Silent_p.T105T	p.T105T	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	5	667	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	105			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	37	c.315C>A	CCDS901.1																																																																																				0.547	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		37	54	1	0	3.21399e-22	0.004878	6.13988e-22	37	54				
HRNR	388697	broad.mit.edu	37	1	152187476	152187476	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152187476C>G	ENST00000368801.2	-	3	6704	c.6629G>C	c.(6628-6630)aGc>aCc	p.S2210T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2210					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCACGGCTGGAAGAACG	0.597																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6628-6630)AGC>ACC		hornerin							21.0	32.0	28.0					1																	152187476		1492	3121	4613	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187476C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6629G>C	1.37:g.152187476C>G	ENSP00000357791:p.Ser2210Thr						p.S2210T	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6705	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2210			24.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6629G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.000	0.554739	0.13436	.	.	ENSG00000197915	ENST00000368801	T	0.21734	1.99	2.93	2.93	0.34026	.	.	.	.	.	T	0.04452	0.0122	L	0.38838	1.175	0.09310	N	1	P	0.43477	0.808	B	0.36534	0.227	T	0.18241	-1.0343	9	0.14252	T	0.57	.	5.9978	0.19503	0.0:0.8507:0.0:0.1493	.	2210	Q86YZ3	HORN_HUMAN	T	2210	ENSP00000357791:S2210T	ENSP00000357791:S2210T	S	-	2	0	HRNR	150454100	0.000000	0.05858	0.006000	0.13384	0.032000	0.12392	0.447000	0.21710	1.638000	0.50547	0.508000	0.49915	AGC		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		26	308	0	0	0	0.001786	0	26	308				
FLG	2312	broad.mit.edu	37	1	152278628	152278628	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152278628A>C	ENST00000368799.1	-	3	8769	c.8734T>G	c.(8734-8736)Tcc>Gcc	p.S2912A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2912	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTTTCTGGAAGCAGACCCA	0.567									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8734-8736)TCC>GCC		filaggrin							100.0	160.0	141.0					1																	152278628		2018	4297	6315	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278628A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8734T>G	1.37:g.152278628A>C	ENSP00000357789:p.Ser2912Ala						p.S2912A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8770	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2912			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8734T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	8.558	0.877081	0.17395	.	.	ENSG00000143631	ENST00000368799	T	0.03496	3.91	2.7	-0.506	0.11989	.	.	.	.	.	T	0.00936	0.0031	M	0.64404	1.975	0.09310	N	1	B	0.29508	0.246	B	0.23150	0.044	T	0.48559	-0.9025	9	0.11485	T	0.65	.	2.4877	0.04602	0.3796:0.2823:0.3381:0.0	.	2912	P20930	FILA_HUMAN	A	2912	ENSP00000357789:S2912A	ENSP00000357789:S2912A	S	-	1	0	FLG	150545252	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.252000	0.08806	-0.099000	0.12263	0.254000	0.18369	TCC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		43	304	0	0	0	0.00361	0	43	304				
FLG	2312	broad.mit.edu	37	1	152283392	152283392	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152283392C>T	ENST00000368799.1	-	3	4005	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1324	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTGCAGAGTGC	0.522									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3970-3972)GAC>AAC		filaggrin							269.0	255.0	259.0					1																	152283392		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283392C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3970G>A	1.37:g.152283392C>T	ENSP00000357789:p.Asp1324Asn					uc001ezv.2_5'Flank	p.D1324N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4006	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1324			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3970G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.488	0.861465	0.17178	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	3.76	1.74	0.24563	.	.	.	.	.	T	0.01523	0.0049	L	0.59436	1.845	0.09310	N	1	P	0.43857	0.819	B	0.36719	0.231	T	0.45862	-0.9232	9	0.17832	T	0.49	.	6.9652	0.24619	0.0:0.7534:0.0:0.2466	.	1324	P20930	FILA_HUMAN	N	1324	ENSP00000357789:D1324N	ENSP00000357789:D1324N	D	-	1	0	FLG	150550016	0.019000	0.18553	0.005000	0.12908	0.009000	0.06853	1.931000	0.40134	0.668000	0.31126	0.456000	0.33151	GAC		0.522	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		195	219	0	0	0	0.00361	0	195	219				
CRNN	49860	broad.mit.edu	37	1	152384655	152384655	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152384655C>G	ENST00000271835.3	-	2	117	c.55G>C	c.(55-57)Gca>Cca	p.A19P	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	19					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTCCTTGCATAGCGCCTG	0.522																																							uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(55-57)GCA>CCA		cornulin							141.0	125.0	131.0					1																	152384655		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152384655C>G	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.55G>C	1.37:g.152384655C>G	ENSP00000271835:p.Ala19Pro						p.A19P	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	129	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		19					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.55G>C	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008302	0.35415	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.14893	2.47	4.77	2.76	0.32466	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.131117	0.34959	N	0.003545	T	0.27134	0.0665	M	0.89414	3.03	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12192	-1.0557	10	0.72032	D	0.01	.	5.0037	0.14277	0.2016:0.6851:0.0:0.1133	.	19	Q9UBG3	CRNN_HUMAN	P	19	ENSP00000271835:A19P	ENSP00000271835:A19P	A	-	1	0	CRNN	150651279	0.523000	0.26274	0.034000	0.17996	0.164000	0.22412	1.609000	0.36858	0.523000	0.28482	0.585000	0.79938	GCA		0.522	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		60	91	0	0	0	0.00361	0	60	91				
NUP210L	91181	broad.mit.edu	37	1	154062039	154062039	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:154062039C>A	ENST00000368559.3	-	16	2290	c.2219G>T	c.(2218-2220)gGt>gTt	p.G740V	NUP210L_ENST00000271854.3_Missense_Mutation_p.G740V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	740					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTTCAGGACACCTGGATGATT	0.448																																							uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2218-2220)GGT>GTT		nucleoporin 210kDa-like isoform 1							95.0	96.0	96.0					1																	154062039		1917	4129	6046	SO:0001583	missense	91181					integral to membrane		g.chr1:154062039C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2219G>T	1.37:g.154062039C>A	ENSP00000357547:p.Gly740Val					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G740V	p.G740V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2291	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		740					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2219G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592937	0.66219	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23348	1.91;1.91	4.57	3.64	0.41730	.	0.118492	0.37623	N	0.002001	T	0.26702	0.0653	L	0.44542	1.39	0.54753	D	0.999982	D;D	0.69078	0.997;0.995	P;P	0.62491	0.903;0.834	T	0.03287	-1.1052	10	0.56958	D	0.05	-1.6837	12.6734	0.56880	0.0:0.8338:0.1662:0.0	.	740;740	E7EP56;Q5VU65	.;P210L_HUMAN	V	740	ENSP00000357547:G740V;ENSP00000271854:G740V	ENSP00000271854:G740V	G	-	2	0	NUP210L	152328663	0.761000	0.28439	1.000000	0.80357	0.977000	0.68977	2.988000	0.49386	1.108000	0.41662	0.467000	0.42956	GGT		0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		51	69	1	0	1.22102e-19	0.00361	2.26929e-19	51	69				
FDPS	2224	broad.mit.edu	37	1	155287752	155287752	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:155287752G>A	ENST00000356657.6	+	5	663	c.501G>A	c.(499-501)gtG>gtA	p.V167V	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Silent_p.V101V|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Silent_p.V167V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	167					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCTTCCTGGTGGCAGATGACA	0.493																																							uc001fkc.2		NA																	0					0						c.(499-501)GTG>GTA		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						93.0	89.0	90.0					1																	155287752		2203	4300	6503	SO:0001819	synonymous_variant	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155287752G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.501G>A	1.37:g.155287752G>A						RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Silent_p.V101V|FDPS_uc001fke.2_Silent_p.V167V|FDPS_uc001fkf.2_Silent_p.V101V|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	p.V167V	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		5	720	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		167					D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	c.501G>A	CCDS1110.1																																																																																				0.493	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		7	61	0	0	0	0.00308	0	7	61				
CD5L	922	broad.mit.edu	37	1	157803090	157803090	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:157803090C>A	ENST00000368174.4	-	5	1027	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	311	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGAACATTATCCAGCCAGATG	0.582																																							uc001frk.3		NA																	0				ovary(1)	1						c.(931-933)GAT>TAT		CD5 molecule-like precursor							100.0	100.0	100.0					1																	157803090		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803090C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.931G>T	1.37:g.157803090C>A	ENSP00000357156:p.Asp311Tyr						p.D311Y	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1074	-	all_hematologic(112;0.0378)		311			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.931G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640674	0.67244	.	.	ENSG00000073754	ENST00000368174	T	0.37235	1.21	5.06	5.06	0.68205	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.222845	0.34555	N	0.003876	T	0.58352	0.2116	M	0.92367	3.3	0.36566	D	0.872727	D	0.89917	1.0	D	0.81914	0.995	T	0.68588	-0.5369	10	0.72032	D	0.01	.	9.3594	0.38186	0.0:0.905:0.0:0.095	.	311	O43866	CD5L_HUMAN	Y	311	ENSP00000357156:D311Y	ENSP00000357156:D311Y	D	-	1	0	CD5L	156069714	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	3.695000	0.54749	2.615000	0.88500	0.655000	0.94253	GAT		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		48	58	1	0	4.64027e-19	0.00361	8.55772e-19	48	58				
CD1C	911	broad.mit.edu	37	1	158263089	158263089	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:158263089A>C	ENST00000368170.3	+	5	1256	c.977A>C	c.(976-978)cAc>cCc	p.H326P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	326					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTTAAGAAGCACTGGTGAGTT	0.398																																							uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(976-978)CAC>CCC		CD1C antigen precursor							458.0	430.0	439.0					1																	158263089		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158263089A>C	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.977A>C	1.37:g.158263089A>C	ENSP00000357152:p.His326Pro					CD1C_uc001frv.2_Intron	p.H326P	NM_001765	NP_001756	P29017	CD1C_HUMAN			5	1269	+	all_hematologic(112;0.0378)		326			Cytoplasmic (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.977A>C	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825703	0.32237	.	.	ENSG00000158481	ENST00000368170;ENST00000454192	T	0.01119	5.31	3.78	-7.55	0.01327	.	.	.	.	.	T	0.00666	0.0022	L	0.47190	1.495	0.09310	N	1	D	0.60575	0.988	P	0.50049	0.629	T	0.01488	-1.1342	9	0.66056	D	0.02	.	10.4668	0.44614	0.7396:0.11:0.1505:0.0	.	326	P29017	CD1C_HUMAN	P	326;129	ENSP00000357152:H326P	ENSP00000357152:H326P	H	+	2	0	CD1C	156529713	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.406000	0.02490	-2.334000	0.00630	-0.385000	0.06624	CAC		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		45	167	0	0	0	0.00361	0	45	167				
OR6Y1	391112	broad.mit.edu	37	1	158517333	158517333	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:158517333G>T	ENST00000302617.3	-	1	562	c.563C>A	c.(562-564)cCa>cAa	p.P188Q		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTTAAGGAGTGGAGAGATATC	0.458																																							uc010pil.1		NA																	0				ovary(1)	1						c.(562-564)CCA>CAA		olfactory receptor, family 6, subfamily Y,							72.0	62.0	65.0					1																	158517333		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517333G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.563C>A	1.37:g.158517333G>T	ENSP00000304807:p.Pro188Gln						p.P188Q	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	563	-	all_hematologic(112;0.0378)		188			Extracellular (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.563C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257813	0.59321	.	.	ENSG00000197532	ENST00000302617	T	0.00137	8.68	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000808	T	0.00210	0.0006	M	0.69463	2.115	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.49031	-0.8981	10	0.66056	D	0.02	.	13.5049	0.61479	0.0:0.0:0.8431:0.1568	.	188	Q8NGX8	OR6Y1_HUMAN	Q	188	ENSP00000304807:P188Q	ENSP00000304807:P188Q	P	-	2	0	OR6Y1	156783957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.054000	0.64275	2.763000	0.94921	0.655000	0.94253	CCA		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		19	26	1	0	1.45105e-14	0.006122	2.44562e-14	19	26				
OR10J5	127385	broad.mit.edu	37	1	159505076	159505076	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:159505076A>T	ENST00000334857.2	-	1	766	c.722T>A	c.(721-723)gTc>gAc	p.V241D		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GAGGTGGGAGACACAGGTGGC	0.488																																							uc010piw.1		NA																	0				skin(2)|ovary(1)	3						c.(721-723)GTC>GAC		olfactory receptor, family 10, subfamily J,							91.0	89.0	90.0					1																	159505076		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505076A>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.722T>A	1.37:g.159505076A>T	ENSP00000334441:p.Val241Asp						p.V241D	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	722	-	all_hematologic(112;0.0429)		241			Helical; Name=6; (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.722T>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325547	0.24080	.	.	ENSG00000184155	ENST00000334857	T	0.39229	1.09	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27489	0.0675	M	0.71036	2.16	0.21020	N	0.999803	B	0.27264	0.173	B	0.32022	0.139	T	0.35599	-0.9782	9	0.87932	D	0	.	9.8663	0.41145	0.1033:0.0:0.8967:0.0	.	241	Q8NHC4	O10J5_HUMAN	D	241	ENSP00000334441:V241D	ENSP00000334441:V241D	V	-	2	0	OR10J5	157771700	0.009000	0.17119	0.758000	0.31321	0.495000	0.33615	0.978000	0.29488	1.012000	0.39366	-0.186000	0.12905	GTC		0.488	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		29	51	0	0	0	0.007291	0	29	51				
DDR2	4921	broad.mit.edu	37	1	162745580	162745580	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:162745580T>C	ENST00000367922.3	+	16	2433	c.1995T>C	c.(1993-1995)ttT>ttC	p.F665F	DDR2_ENST00000367921.3_Silent_p.F665F|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCAATCAGTTTCTTTCCCGCC	0.473																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1993-1995)TTT>TTC		discoidin domain receptor family, member 2							134.0	130.0	131.0					1																	162745580		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745580T>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1995T>C	1.37:g.162745580T>C						DDR2_uc001gcg.2_Silent_p.F665F	p.F665F	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2460	+	all_hematologic(112;0.115)		665			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.1995T>C	CCDS1241.1																																																																																				0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		39	164	0	0	0	0.002522	0	39	164				
RXRG	6258	broad.mit.edu	37	1	165376069	165376069	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:165376069C>G	ENST00000359842.5	-	9	1526	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	408	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GTTCCGGATACTTCTGCTTGG	0.532																																							uc001gda.2		NA																	0					0						c.(1222-1224)AAG>AAC		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						198.0	153.0	168.0					1																	165376069		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165376069C>G	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1224G>C	1.37:g.165376069C>G	ENSP00000352900:p.Lys408Asn						p.K408N	NM_006917	NP_008848	P48443	RXRG_HUMAN			9	1524	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		408			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1224G>C	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039743	0.35989	.	.	ENSG00000143171	ENST00000359842	T	0.68025	-0.3	4.24	3.32	0.38043	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	N	0.10782	0.045	0.52099	D	0.999949	B	0.24576	0.106	B	0.23574	0.047	T	0.26916	-1.0089	9	0.46703	T	0.11	.	11.5222	0.50558	0.0:0.9048:0.0:0.0952	.	408	P48443	RXRG_HUMAN	N	408	ENSP00000352900:K408N	ENSP00000352900:K408N	K	-	3	2	RXRG	163642693	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	0.600000	0.24104	2.332000	0.79248	0.563000	0.77884	AAG		0.532	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		38	39	0	0	0	0.006999	0	38	39				
DUSP27	92235	broad.mit.edu	37	1	167097711	167097711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:167097711G>T	ENST00000361200.2	+	6	3509	c.3343G>T	c.(3343-3345)Gga>Tga	p.G1115*	DUSP27_ENST00000271385.5_Nonsense_Mutation_p.G1115*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.G1115*|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1115					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTTTGCATCTGGACGGCGGTC	0.507																																							uc001geb.1		NA																	0				ovary(3)	3						c.(3343-3345)GGA>TGA		dual specificity phosphatase 27							46.0	41.0	43.0					1																	167097711		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097711G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3343G>T	1.37:g.167097711G>T	ENSP00000354483:p.Gly1115*						p.G1115*	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3343	+			1115					A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.3343G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	39	7.816311	0.98504	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.4	4.48	0.54585	.	0.128609	0.35677	N	0.003053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-41.2293	8.2677	0.31824	0.1793:0.0:0.8207:0.0	.	.	.	.	X	1115	.	ENSP00000271385:G1115X	G	+	1	0	DUSP27	165364335	0.945000	0.32115	0.404000	0.26397	0.692000	0.40212	1.604000	0.36804	2.532000	0.85374	0.549000	0.68633	GGA		0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		19	22	1	0	1.96292e-10	0.001523	3.0411e-10	19	22				
MYOC	4653	broad.mit.edu	37	1	171621301	171621301	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:171621301C>A	ENST00000037502.6	-	1	522	c.451G>T	c.(451-453)Gtt>Ttt	p.V151F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	151					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCTCCAGAACTGACTTGTCT	0.577																																							uc001ghu.2		NA																	0				lung(1)	1						c.(451-453)GTT>TTT		myocilin precursor							148.0	161.0	156.0					1																	171621301		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621301C>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.451G>T	1.37:g.171621301C>A	ENSP00000037502:p.Val151Phe					MYOC_uc010pmk.1_Missense_Mutation_p.V93F	p.V151F	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	473	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		151			Potential.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.451G>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538674	0.27475	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.82803	-1.65	5.5	-0.161	0.13371	.	0.576328	0.19964	N	0.102149	T	0.39733	0.1089	N	0.08118	0	0.09310	N	1	B;P	0.34412	0.016;0.453	B;B	0.28849	0.004;0.095	T	0.36138	-0.9760	10	0.66056	D	0.02	.	3.2093	0.06677	0.2491:0.4399:0.0:0.3109	.	93;151	B4DV44;Q99972	.;MYOC_HUMAN	F	151;104;84;151	ENSP00000037502:V151F	ENSP00000037502:V151F	V	-	1	0	MYOC	169887924	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-0.160000	0.10041	0.558000	0.29135	0.655000	0.94253	GTT		0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		101	144	1	0	1.41219e-46	0.00361	3.04334e-46	101	144				
FASLG	356	broad.mit.edu	37	1	172635156	172635156	+	Nonstop_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:172635156A>C	ENST00000367721.2	+	4	1030	c.846A>C	c.(844-846)taA>taC	p.*282Y	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATAAGCTCTAAGAGAAGCACT	0.388																																					Ovarian(28;486 876 30334 44033)	Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	0				lung(2)|breast(1)	3						c.(844-846)TAA>TAC		fas ligand							51.0	52.0	51.0					1																	172635156		2203	4300	6503	SO:0001578	stop_lost	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172635156A>C	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.846A>C	1.37:g.172635156A>C	ENSP00000356694:p.*282Tyrext*23					FASLG_uc001git.2_3'UTR	p.*282Y	NM_000639	NP_000630	P48023	TNFL6_HUMAN			4	1003	+			282					Q9BZP9	Nonstop_Mutation	SNP	ENST00000367721.2	37	c.846A>C	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	7.777	0.708659	0.15239	.	.	ENSG00000117560	ENST00000367721	.	.	.	4.97	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3232	0.26540	0.8217:0.0:0.1783:0.0	.	.	.	.	Y	282	.	.	X	+	3	2	FASLG	170901779	0.596000	0.26866	0.592000	0.28758	0.486000	0.33341	0.798000	0.27014	0.341000	0.23771	0.454000	0.30748	TAA		0.388	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			12	56	0	0	0	0.001855	0	12	56				
TNR	7143	broad.mit.edu	37	1	175372638	175372638	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:175372638G>C	ENST00000367674.2	-	4	1322	c.614C>G	c.(613-615)cCg>cGg	p.P205R	TNR_ENST00000263525.2_Missense_Mutation_p.P205R			Q92752	TENR_HUMAN	tenascin R	205	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAACCCAGCGGGCAGTAGGG	0.597																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(613-615)CCG>CGG		tenascin R precursor							91.0	99.0	96.0					1																	175372638		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372638G>C	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.614C>G	1.37:g.175372638G>C	ENSP00000356646:p.Pro205Arg					TNR_uc009wwu.1_Missense_Mutation_p.P205R|TNR_uc010pmz.1_Missense_Mutation_p.P205R	p.P205R	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	695	-	Renal(580;0.146)		205			Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.614C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487533	0.84854	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.24723	1.84;1.84	6.17	6.17	0.99709	EGF, extracellular (1);	0.056031	0.64402	D	0.000001	T	0.54581	0.1867	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.51325	-0.8720	10	0.87932	D	0	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	205;205	B4DIX8;Q92752	.;TENR_HUMAN	R	205	ENSP00000356646:P205R;ENSP00000263525:P205R	ENSP00000263525:P205R	P	-	2	0	TNR	173639261	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	6.582000	0.74049	2.941000	0.99782	0.655000	0.94253	CCG		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		58	103	0	0	0	0.00361	0	58	103				
PAPPA2	60676	broad.mit.edu	37	1	176526293	176526293	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:176526293C>A	ENST00000367662.3	+	2	1999	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L279M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	279					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAGAAGTGCTGGCTGAGAT	0.582																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(835-837)CTG>ATG		pappalysin 2 isoform 1							29.0	29.0	29.0					1																	176526293		1932	4141	6073	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526293C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.835C>A	1.37:g.176526293C>A	ENSP00000356634:p.Leu279Met					PAPPA2_uc001gky.1_Missense_Mutation_p.L279M|PAPPA2_uc009www.2_RNA	p.L279M	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1999	+			279					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.835C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	7.970	0.748820	0.15710	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32272	4.71;1.46	4.58	2.49	0.30216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.362591	0.25711	N	0.028809	T	0.15869	0.0382	N	0.19112	0.55	0.27857	N	0.94053	B;B	0.31153	0.098;0.31	B;B	0.24848	0.046;0.056	T	0.10753	-1.0616	10	0.45353	T	0.12	-8.0003	6.4572	0.21936	0.2196:0.6717:0.0:0.1087	.	279;279	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	M	279	ENSP00000356634:L279M;ENSP00000356633:L279M	ENSP00000356633:L279M	L	+	1	2	PAPPA2	174792916	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.942000	0.29017	0.926000	0.37118	0.313000	0.20887	CTG		0.582	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			13	20	1	0	7.03913e-09	0.001368	1.04822e-08	13	20				
MR1	3140	broad.mit.edu	37	1	181021464	181021464	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:181021464A>G	ENST00000367580.5	+	4	703	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.Y188C	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	233	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CCAGAAATTTACATGACATGG	0.453																																					Colon(174;1412 1962 45296 46549 47110)	Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NA																	0				skin(1)	1						c.(697-699)TAC>TGC		major histocompatibility complex, class							57.0	59.0	58.0					1																	181021464		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021464A>G	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.698A>G	1.37:g.181021464A>G	ENSP00000356552:p.Tyr233Cys					MR1_uc001gor.1_Missense_Mutation_p.Y188C|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	p.Y233C	NM_001531	NP_001522	Q95460	HMR1_HUMAN			4	703	+			233			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.698A>G	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487161	0.44249	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.02863	4.13;4.13	4.52	2.61	0.31194	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.497644	0.18674	N	0.134365	T	0.02380	0.0073	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49826	-0.8898	10	0.72032	D	0.01	.	6.8605	0.24064	0.3583:0.4639:0.1778:0.0	.	188;233	Q95460-2;Q95460	.;HMR1_HUMAN	C	233;188	ENSP00000356552:Y233C;ENSP00000356551:Y188C	ENSP00000356551:Y188C	Y	+	2	0	MR1	179288087	0.000000	0.05858	1.000000	0.80357	0.802000	0.45316	-0.016000	0.12613	0.499000	0.27970	-0.213000	0.12676	TAC		0.453	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		37	34	0	0	0	0.004289	0	37	34				
CACNA1E	777	broad.mit.edu	37	1	181724430	181724430	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:181724430T>C	ENST00000367573.2	+	28	3886	c.3886T>C	c.(3886-3888)Tac>Cac	p.Y1296H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.Y1277H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y1247H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y1277H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Y903H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y1228H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1296					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)	p.Y1296H(1)		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						ACTCATTGTGTACAAGCTCTT	0.478																																							uc001gow.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3886-3888)TAC>CAC		calcium channel, voltage-dependent, R type,							221.0	208.0	212.0					1																	181724430		2028	4210	6238	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724430T>C	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.3886T>C	1.37:g.181724430T>C	ENSP00000356545:p.Tyr1296His					CACNA1E_uc009wxs.2_Missense_Mutation_p.Y1184H|CACNA1E_uc001gox.1_Missense_Mutation_p.Y522H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Y522H	p.Y1296H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			28	4051	+			1296			III.|Helical; Name=S5 of repeat III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3886T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686920	0.88639	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.83275	0.969;0.995;0.996	D	0.99679	1.0998	10	0.87932	D	0	.	14.8849	0.70560	0.0:0.0:0.0:1.0	.	1277;1296;1296	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1296;1277;1247;1228;903;1277;1296	ENSP00000356542:Y1296H;ENSP00000434814:Y1277H;ENSP00000350183:Y1247H;ENSP00000351101:Y1228H;ENSP00000356539:Y903H;ENSP00000353222:Y1277H;ENSP00000356545:Y1296H	ENSP00000350183:Y1247H	Y	+	1	0	CACNA1E	179991053	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.894000	0.87336	1.998000	0.58463	0.528000	0.53228	TAC		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		27	101	0	0	0	0.005443	0	27	101				
LAMC1	3915	broad.mit.edu	37	1	183086479	183086479	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:183086479A>C	ENST00000258341.4	+	9	1846	c.1589A>C	c.(1588-1590)cAg>cCg	p.Q530P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	530	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CGTGCGGAACAGAGAGATGGC	0.478																																							uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1588-1590)CAG>CCG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139.0	119.0	126.0					1																	183086479		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086479A>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1589A>C	1.37:g.183086479A>C	ENSP00000258341:p.Gln530Pro						p.Q530P	NM_002293	NP_002284	P11047	LAMC1_HUMAN			9	1846	+			530			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1589A>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.457951	0.63401	.	.	ENSG00000135862	ENST00000258341	T	0.31247	1.5	5.04	5.04	0.67666	Laminin B type IV (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.78637	2.42	0.58432	D	0.999994	P	0.38335	0.627	B	0.32022	0.139	T	0.23048	-1.0199	10	0.32370	T	0.25	.	14.7858	0.69803	1.0:0.0:0.0:0.0	.	530	P11047	LAMC1_HUMAN	P	530	ENSP00000258341:Q530P	ENSP00000258341:Q530P	Q	+	2	0	LAMC1	181353102	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	6.655000	0.74392	1.895000	0.54865	0.482000	0.46254	CAG		0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		22	25	0	0	0	0.004656	0	22	25				
TPR	7175	broad.mit.edu	37	1	186295264	186295264	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:186295264T>A	ENST00000367478.4	-	41	6289	c.5993A>T	c.(5992-5994)aAt>aTt	p.N1998I		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1998					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ataaccatcattgccatcggc	0.408			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(5992-5994)AAT>ATT		nuclear pore complex-associated protein TPR							158.0	158.0	158.0					1																	186295264		2079	4213	6292	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186295264T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5993A>T	1.37:g.186295264T>A	ENSP00000356448:p.Asn1998Ile						p.N1998I	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	41	6290	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1998					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5993A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565607	0.65651	.	.	ENSG00000047410	ENST00000367478	T	0.25250	1.81	4.27	4.27	0.50696	.	0.226625	0.51477	D	0.000089	T	0.27241	0.0668	M	0.66939	2.045	0.50813	D	0.999894	P	0.48911	0.917	B	0.41135	0.348	T	0.11372	-1.0590	10	0.87932	D	0	.	9.6966	0.40161	0.0:0.0858:0.0:0.9142	.	1998	P12270	TPR_HUMAN	I	1998	ENSP00000356448:N1998I	ENSP00000356448:N1998I	N	-	2	0	TPR	184561887	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.462000	0.53042	2.149000	0.67028	0.533000	0.62120	AAT		0.408	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		44	65	0	0	0	0.00361	0	44	65				
CRB1	23418	broad.mit.edu	37	1	197404400	197404400	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:197404400G>T	ENST00000367400.3	+	9	3542	c.3407G>T	c.(3406-3408)gGc>gTc	p.G1136V	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.G1024V|CRB1_ENST00000535699.1_Missense_Mutation_p.G1112V|CRB1_ENST00000544212.1_Missense_Mutation_p.G617V|CRB1_ENST00000367397.1_Missense_Mutation_p.G517V|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1136	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGTCACTGGCTGTTTGCAG	0.413																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(3406-3408)GGC>GTC		crumbs homolog 1 precursor							105.0	95.0	99.0					1																	197404400		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404400G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3407G>T	1.37:g.197404400G>T	ENSP00000356370:p.Gly1136Val					CRB1_uc010poz.1_Missense_Mutation_p.G1112V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G1024V|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G617V|CRB1_uc001gub.1_Missense_Mutation_p.G785V	p.G1136V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3542	+			1136			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3407G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381548	0.42207	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.88975	-2.12;-1.94;-2.45;-2.32;-2.31	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.93983	0.8073	M	0.83012	2.62	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;0.998;0.999	D	0.92538	0.6039	9	0.30078	T	0.28	.	13.0831	0.59125	0.0732:0.0:0.9268:0.0	.	1112;1024;785;1136	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	V	1112;1136;1024;617;517;785	ENSP00000438786:G1112V;ENSP00000356370:G1136V;ENSP00000356369:G1024V;ENSP00000444556:G617V;ENSP00000356367:G517V	ENSP00000356367:G517V	G	+	2	0	CRB1	195671023	1.000000	0.71417	0.634000	0.29324	0.006000	0.05464	7.586000	0.82596	2.681000	0.91329	0.650000	0.86243	GGC		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		23	70	1	0	1.10923e-09	0.00278	1.69929e-09	23	70				
CR2	1380	broad.mit.edu	37	1	207640047	207640047	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:207640047G>T	ENST00000367058.3	+	2	424	c.235G>T	c.(235-237)Gct>Tct	p.A79S	CR2_ENST00000367059.3_Missense_Mutation_p.A79S|CR2_ENST00000367057.3_Missense_Mutation_p.A79S|CR2_ENST00000458541.2_Missense_Mutation_p.A79S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	79	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGATAAACCTGCTCCTAAATG	0.408																																							uc001hfw.2		NA																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(235-237)GCT>TCT		complement component (3d/Epstein Barr virus)							92.0	93.0	93.0					1																	207640047		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640047G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.235G>T	1.37:g.207640047G>T	ENSP00000356025:p.Ala79Ser					CR2_uc001hfv.2_Missense_Mutation_p.A79S|CR2_uc009xch.2_Missense_Mutation_p.A79S	p.A79S	NM_001877	NP_001868	P20023	CR2_HUMAN			2	329	+			79			Sushi 1.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.235G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	9.807	1.182173	0.21787	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.0	-5.59	0.02505	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60483	0.2272	L	0.60012	1.86	0.09310	N	1	P;P;B	0.42203	0.773;0.633;0.345	P;P;B	0.48488	0.579;0.572;0.274	T	0.56432	-0.7980	9	0.21014	T	0.42	.	12.2298	0.54482	0.1482:0.6601:0.1917:0.0	.	79;79;79	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	S	79	ENSP00000356025:A79S;ENSP00000356024:A79S;ENSP00000356026:A79S;ENSP00000404222:A79S	ENSP00000356024:A79S	A	+	1	0	CR2	205706670	0.302000	0.24454	0.041000	0.18516	0.289000	0.27227	-0.499000	0.06413	-1.449000	0.01938	0.655000	0.94253	GCT		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		38	61	1	0	6.97489e-18	0.004878	1.26206e-17	38	61				
USH2A	7399	broad.mit.edu	37	1	216138697	216138697	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216138697T>A	ENST00000307340.3	-	37	7468	c.7082A>T	c.(7081-7083)cAc>cTc	p.H2361L	USH2A_ENST00000366943.2_Missense_Mutation_p.H2361L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2361	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGACTGAGTGTGTTAAGAG	0.378										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7081-7083)CAC>CTC		usherin isoform B							141.0	138.0	139.0					1																	216138697		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138697T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7082A>T	1.37:g.216138697T>A	ENSP00000305941:p.His2361Leu	HNSCC(13;0.011)					p.H2361L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7469	-			2361			Extracellular (Potential).|Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7082A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378165	0.42105	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.56	4.44	0.53790	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000975	T	0.25568	0.0622	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.16896	T	0.51	.	11.2586	0.49069	0.0:0.0712:0.0:0.9288	.	2361	O75445	USH2A_HUMAN	L	2361	ENSP00000305941:H2361L;ENSP00000355910:H2361L	ENSP00000305941:H2361L	H	-	2	0	USH2A	214205320	0.998000	0.40836	0.010000	0.14722	0.073000	0.16967	3.343000	0.52167	1.067000	0.40740	0.533000	0.62120	CAC		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		65	89	0	0	0	0.00361	0	65	89				
USH2A	7399	broad.mit.edu	37	1	216243576	216243576	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216243576C>G	ENST00000307340.3	-	30	6302	c.5916G>C	c.(5914-5916)gaG>gaC	p.E1972D	USH2A_ENST00000366943.2_Missense_Mutation_p.E1972D|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1972	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCAGGTCACCTCAATGCTGT	0.483										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5914-5916)GAG>GAC		usherin isoform B							127.0	111.0	116.0					1																	216243576		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243576C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5916G>C	1.37:g.216243576C>G	ENSP00000305941:p.Glu1972Asp	HNSCC(13;0.011)					p.E1972D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6303	-			1972			Extracellular (Potential).|Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5916G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715698	0.48622	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.44	2.52	0.30459	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.171603	0.26680	U	0.023052	T	0.45836	0.1362	L	0.61036	1.89	0.38066	D	0.936216	P	0.38280	0.625	B	0.40741	0.339	T	0.36163	-0.9759	10	0.17832	T	0.49	.	6.4266	0.21773	0.1292:0.659:0.0:0.2118	.	1972	O75445	USH2A_HUMAN	D	1972	ENSP00000305941:E1972D;ENSP00000355910:E1972D	ENSP00000305941:E1972D	E	-	3	2	USH2A	214310199	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.909000	0.39917	0.777000	0.33496	0.557000	0.71058	GAG		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	37	0	0	0	0.002522	0	37	37				
ESRRG	2104	broad.mit.edu	37	1	216741352	216741352	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216741352C>A	ENST00000408911.3	-	4	831	c.678G>T	c.(676-678)ctG>ctT	p.L226L	ESRRG_ENST00000366938.2_Silent_p.L203L|ESRRG_ENST00000361395.2_Silent_p.L203L|ESRRG_ENST00000360012.3_Silent_p.L203L|ESRRG_ENST00000366940.2_Silent_p.L203L|ESRRG_ENST00000493748.1_Silent_p.L203L|ESRRG_ENST00000391890.3_Silent_p.L203L|ESRRG_ENST00000361525.3_Silent_p.L203L|ESRRG_ENST00000463665.1_Silent_p.L164L|ESRRG_ENST00000487276.1_Silent_p.L203L|ESRRG_ENST00000359162.2_Silent_p.L203L|ESRRG_ENST00000493603.1_Silent_p.L203L|ESRRG_ENST00000366937.1_Silent_p.L231L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	226					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTGGCTGAACCAGCTGAGGGT	0.527																																							uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(676-678)CTG>CTT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						155.0	127.0	136.0					1																	216741352		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216741352C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.678G>T	1.37:g.216741352C>A						ESRRG_uc001hky.1_Silent_p.L203L|ESRRG_uc009xdp.1_Silent_p.L203L|ESRRG_uc001hkz.1_Silent_p.L164L|ESRRG_uc010puc.1_Silent_p.L203L|ESRRG_uc001hla.1_Silent_p.L203L|ESRRG_uc001hlb.1_Silent_p.L203L|ESRRG_uc010pud.1_Silent_p.L34L|ESRRG_uc001hlc.1_Silent_p.L203L|ESRRG_uc001hld.1_Silent_p.L203L|ESRRG_uc001hkx.1_Silent_p.L231L|ESRRG_uc009xdo.1_Silent_p.L203L|ESRRG_uc001hle.1_Silent_p.L203L	p.L226L	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	844	-			226					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.678G>T	CCDS41468.1																																																																																				0.527	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		18	77	1	0	9.16793e-09	0.00499	1.35262e-08	18	77				
WNT3A	89780	broad.mit.edu	37	1	228246785	228246785	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:228246785C>A	ENST00000284523.1	+	4	756	c.678C>A	c.(676-678)gcC>gcA	p.A226A	WNT3A_ENST00000366753.2_Silent_p.A226A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	226					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACTTCCGCGCCATCGGTGACT	0.657																																							uc001hrq.1		NA																	0				ovary(1)	1						c.(676-678)GCC>GCA		wingless-type MMTV integration site family,							58.0	60.0	59.0					1																	228246785		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246785C>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.678C>A	1.37:g.228246785C>A						WNT3A_uc001hrp.1_Silent_p.A226A	p.A226A	NM_033131	NP_149122	P56704	WNT3A_HUMAN			4	756	+		Prostate(94;0.0405)	226					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.678C>A	CCDS1564.1																																																																																				0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		19	36	1	0	1.78486e-19	0.007413	3.3108e-19	19	36				
OBSCN	84033	broad.mit.edu	37	1	228553830	228553830	+	Silent	SNP	G	G	A	rs74144615	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:228553830G>A	ENST00000422127.1	+	83	19163	c.19119G>A	c.(19117-19119)acG>acA	p.T6373T	OBSCN_ENST00000570156.2_Silent_p.T7330T|OBSCN_ENST00000366707.4_Silent_p.T4007T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6373	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCGGAACGGCCCAATTCG	0.637													G|||	4	0.000798722	0.003	0.0	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19117-19119)ACG>ACA		obscurin, cytoskeletal calmodulin and		G		11,4171		0,11,2080	80.0	86.0	84.0		19119	-10.8	0.0	1	dbSNP_130	84	0,8420		0,0,4210	no	coding-synonymous	OBSCN	NM_001098623.1		0,11,6290	AA,AG,GG		0.0,0.263,0.0873		6373/7969	228553830	11,12591	2091	4210	6301	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228553830G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19119G>A	1.37:g.228553830G>A						OBSCN_uc001hsr.1_Silent_p.T1002T	p.T6373T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			83	19163	+		Prostate(94;0.0405)	6373			Ig-like 54.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.19119G>A	CCDS58065.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.750	0.507136	0.12883	0.00263	0.0	ENSG00000154358	ENST00000441106	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.21822	N	0.999526	.	.	.	.	.	.	T	0.06303	-1.0834	4	.	.	.	.	3.0747	0.06242	0.0833:0.1998:0.4348:0.2821	.	.	.	.	S	990	.	.	G	+	1	0	OBSCN	226620453	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-3.238000	0.00545	-4.321000	0.00056	0.313000	0.20887	GGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		25	43	0	0	0	0.003954	0	25	43				
ACTA1	58	broad.mit.edu	37	1	229568170	229568170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:229568170G>T	ENST00000366684.3	-	4	565	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	155					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCGGAGTCCAGCACGATGCCT	0.736																																							uc001htm.2		NA																	0					0						c.(463-465)CTG>ATG		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						27.0	27.0	27.0					1																	229568170		2201	4298	6499	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568170G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.463C>A	1.37:g.229568170G>T	ENSP00000355645:p.Leu155Met						p.L155M	NM_001100	NP_001091	P68133	ACTS_HUMAN			4	568	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	155					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.463C>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	4.475	0.088004	0.08583	.	.	ENSG00000143632	ENST00000366684;ENST00000366682;ENST00000342787	D	0.97731	-4.51	4.43	2.51	0.30379	.	0.173571	0.38164	N	0.001782	D	0.94928	0.8360	L	0.42245	1.32	0.80722	D	1	B	0.06786	0.001	B	0.21360	0.034	D	0.90894	0.4763	10	0.72032	D	0.01	.	9.6031	0.39617	0.1724:0.0:0.8276:0.0	.	155	P68133	ACTS_HUMAN	M	155;120;155	ENSP00000355645:L155M	ENSP00000344142:L155M	L	-	1	2	ACTA1	227634793	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	4.437000	0.59955	0.469000	0.27268	0.650000	0.86243	CTG		0.736	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		22	20	1	0	1.77063e-15	0.005443	3.07059e-15	22	20				
SIPA1L2	57568	broad.mit.edu	37	1	232650001	232650001	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:232650001G>A	ENST00000366630.1	-	2	1443	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S362F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	362					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGATGCTGCAGATGCCCCAGT	0.498																																							uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1084-1086)TCT>TTT		signal-induced proliferation-associated 1 like							102.0	104.0	104.0					1																	232650001		1954	4142	6096	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650001G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1085C>T	1.37:g.232650001G>A	ENSP00000355589:p.Ser362Phe						p.S362F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1243	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	362					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1085C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263926	0.80358	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.91124	-2.79;-2.79	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95501	0.8577	10	0.87932	D	0	-19.3179	19.3561	0.94414	0.0:0.0:1.0:0.0	.	362	Q9P2F8	SI1L2_HUMAN	F	362	ENSP00000355589:S362F;ENSP00000262861:S362F	ENSP00000262861:S362F	S	-	2	0	SIPA1L2	230716624	1.000000	0.71417	0.750000	0.31169	0.992000	0.81027	9.657000	0.98554	2.810000	0.96702	0.650000	0.86243	TCT		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		56	73	0	0	0	0.00361	0	56	73				
ACTN2	88	broad.mit.edu	37	1	236925788	236925788	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:236925788C>T	ENST00000366578.4	+	21	2720	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	ACTN2_ENST00000546208.1_Missense_Mutation_p.R346W|ACTN2_ENST00000542672.1_Missense_Mutation_p.R852W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	852					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R852W(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCTGCGTCGGGAGCTGCC	0.547																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(4)|skin(1)	5						c.(2554-2556)CGG>TGG		actinin, alpha 2							49.0	51.0	50.0					1																	236925788		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236925788C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2554C>T	1.37:g.236925788C>T	ENSP00000355537:p.Arg852Trp					ACTN2_uc001hyg.2_Missense_Mutation_p.R644W|ACTN2_uc009xgi.1_Missense_Mutation_p.R852W|ACTN2_uc010pxu.1_Missense_Mutation_p.R541W|ACTN2_uc001hyh.2_Missense_Mutation_p.R540W	p.R852W	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		21	2758	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	852					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2554C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487781	0.84854	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.46819	0.86;0.86;0.86	5.43	5.43	0.79202	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.964;1.0;0.996	T	0.80077	-0.1533	10	0.87932	D	0	.	14.4573	0.67425	0.1471:0.8529:0.0:0.0	.	637;852;622;852	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	W	852;852;346;621	ENSP00000443495:R852W;ENSP00000355537:R852W;ENSP00000438384:R346W	ENSP00000355537:R852W	R	+	1	2	ACTN2	234992411	0.967000	0.33354	0.987000	0.45799	0.998000	0.95712	2.323000	0.43823	2.721000	0.93114	0.655000	0.94253	CGG		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		25	39	0	0	0	0.004656	0	25	39				
RYR2	6262	broad.mit.edu	37	1	237754103	237754103	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:237754103G>T	ENST00000366574.2	+	31	4288	c.3971G>T	c.(3970-3972)gGg>gTg	p.G1324V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1322V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1308V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1324	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCTCCCTGGGGCTGGCCTT	0.522																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3970-3972)GGG>GTG		cardiac muscle ryanodine receptor							104.0	102.0	103.0					1																	237754103		1918	4131	6049	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.chr1:237754103G>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.3971G>T	1.37:g.237754103G>T	ENSP00000355533:p.Gly1324Val						p.G1324V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4091	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1324			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3971G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539475	0.27563	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96265	-3.96;-3.92;-3.95	5.23	5.23	0.72850	.	0.000000	0.53938	D	0.000054	D	0.89567	0.6752	N	0.14661	0.345	0.21950	N	0.999455	B	0.12013	0.005	B	0.12156	0.007	T	0.75091	-0.3440	10	0.15952	T	0.53	.	8.6531	0.34046	0.0759:0.0:0.7717:0.1524	.	1324	Q92736	RYR2_HUMAN	V	1324;1322;1308	ENSP00000355533:G1324V;ENSP00000353174:G1322V;ENSP00000443798:G1308V	ENSP00000353174:G1322V	G	+	2	0	RYR2	235820726	0.967000	0.33354	0.100000	0.21137	0.986000	0.74619	2.738000	0.47401	2.882000	0.98803	0.655000	0.94253	GGG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		34	84	1	0	1.61788e-16	0.002445	2.84166e-16	34	84				
RYR2	6262	broad.mit.edu	37	1	237880573	237880573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:237880573G>T	ENST00000366574.2	+	72	10716	c.10399G>T	c.(10399-10401)Gta>Tta	p.V3467L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3465L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3451L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3467					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)			CTCTCTGATTGTAGCAGCTCT	0.498																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10399-10401)GTA>TTA		cardiac muscle ryanodine receptor							89.0	92.0	91.0					1																	237880573		1908	4114	6022	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.chr1:237880573G>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.10399G>T	1.37:g.237880573G>T	ENSP00000355533:p.Val3467Leu					RYR2_uc010pxz.1_Missense_Mutation_p.V422L	p.V3467L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10519	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3467					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10399G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034840	0.54896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97870	-0.19;-4.58;-0.19	5.34	4.43	0.53597	.	0.000000	0.53938	D	0.000053	D	0.98030	0.9351	M	0.78637	2.42	0.80722	D	1	D	0.59357	0.985	P	0.55871	0.786	D	0.98171	1.0452	10	0.59425	D	0.04	-12.7176	14.2902	0.66273	0.0716:0.0:0.9284:0.0	.	3467	Q92736	RYR2_HUMAN	L	3467;3465;3451;422	ENSP00000355533:V3467L;ENSP00000353174:V3465L;ENSP00000443798:V3451L	ENSP00000353174:V3465L	V	+	1	0	RYR2	235947196	1.000000	0.71417	0.129000	0.21949	0.006000	0.05464	9.813000	0.99286	1.402000	0.46780	-0.136000	0.14681	GTA		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	18	1	0	2.31682e-05	0.003163	3.09447e-05	16	18				
AKT3	10000	broad.mit.edu	37	1	243858929	243858929	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:243858929C>G	ENST00000366539.1	-	3	336	c.136G>C	c.(136-138)Gat>Cat	p.D46H	AKT3_ENST00000336199.5_Missense_Mutation_p.D46H|AKT3_ENST00000366540.1_Missense_Mutation_p.D46H|AKT3_ENST00000263826.5_Missense_Mutation_p.D46H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	46	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TAAGGTAAATCCACATCTTGA	0.318																																							uc001iab.1		NA																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(136-138)GAT>CAT		AKT3 kinase isoform 1							76.0	79.0	78.0					1																	243858929		2202	4299	6501	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243858929C>G	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.136G>C	1.37:g.243858929C>G	ENSP00000355497:p.Asp46His					AKT3_uc001hzz.1_Missense_Mutation_p.D46H	p.D46H	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		2	217	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	46			PH.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.136G>C	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751895	0.89753	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.66	5.66	0.87406	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	L	0.60455	1.87	0.80722	D	1	D;D	0.61080	0.989;0.987	P;P	0.62014	0.897;0.885	T	0.58538	-0.7619	10	0.52906	T	0.07	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	46;46	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	46	ENSP00000336943:D46H;ENSP00000355498:D46H;ENSP00000355497:D46H;ENSP00000263826:D46H;ENSP00000447820:D46H	ENSP00000263826:D46H	D	-	1	0	AKT3	241925552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT		0.318	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		7	18	0	0	0	0.00308	0	7	18				
DESI2	51029	broad.mit.edu	37	1	244849926	244849926	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:244849926A>T	ENST00000302550.11	+	2	449	c.70A>T	c.(70-72)Att>Ttt	p.I24F	DESI2_ENST00000263831.7_Missense_Mutation_p.I24F	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	24	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										TACCTCATCCATTGGAATTGG	0.363																																							uc001iao.2		NA																	0				breast(3)	3						c.(70-72)ATT>TTT		PPPDE peptidase domain containing 1							129.0	129.0	129.0					1																	244849926		2203	4300	6503	SO:0001583	missense	51029							g.chr1:244849926A>T	AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.70A>T	1.37:g.244849926A>T	ENSP00000306528:p.Ile24Phe					PPPDE1_uc001iap.2_Missense_Mutation_p.I24F	p.I24F	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN			2	334	+			24			PPPDE peptidase.		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	c.70A>T	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031353	0.54790	.	.	ENSG00000121644	ENST00000302550;ENST00000263831;ENST00000418162	.	.	.	5.25	5.25	0.73442	Domain of unknown function DUF862, eukaryotic (1);	0.055263	0.64402	D	0.000001	T	0.49864	0.1582	L	0.33710	1.025	0.50467	D	0.99987	B;B	0.33583	0.365;0.418	B;B	0.41619	0.361;0.261	T	0.43956	-0.9359	9	0.20519	T	0.43	.	11.107	0.48210	0.7186:0.2814:0.0:0.0	.	24;24	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	F	24;24;41	.	ENSP00000263831:I24F	I	+	1	0	PPPDE1	242916549	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.001000	0.70685	2.109000	0.64355	0.477000	0.44152	ATT		0.363	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		13	30	0	0	0	0.001855	0	13	30				
VN1R5	317705	broad.mit.edu	37	1	247419548	247419548	+	IGR	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:247419548G>T								RP11-488L18.8 (14423 upstream) : Y_RNA (38588 downstream)																							TGGAATTTCAGCAAACACCAT	0.358																																						GBM(98;63 1399 4825 21305 33017)	uc010pyu.1		NA																	0					0						c.(175-177)GCA>TCA		vomeronasal 1 receptor 5							180.0	176.0	177.0					1																	247419548		1883	4103	5986	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419548G>T																													1.37:g.247419548G>T							p.A59S	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	175	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	59			Helical; Name=2; (Potential).			Missense_Mutation	SNP		37	c.175G>T																																																																																				0	0.358									38	102	1	0	6.97489e-18	0.004878	1.26206e-17	38	102				
OR1C1	26188	broad.mit.edu	37	1	247920989	247920989	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:247920989G>T	ENST00000408896.2	-	1	993	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	240					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCAGCTGCAGGTGGAAACAG	0.527																																							uc010pza.1		NA																	0				skin(1)	1						c.(718-720)ACC>ACA		olfactory receptor, family 1, subfamily C,							49.0	51.0	50.0					1																	247920989		2043	4217	6260	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920989G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.720C>A	1.37:g.247920989G>T							p.T240T	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	720	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	240			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.720C>A	CCDS41481.1																																																																																				0.527	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			28	9	1	0	4.22769e-11	0.00632	6.63561e-11	28	9				
OR2W3	343171	broad.mit.edu	37	1	248059669	248059669	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248059669C>A	ENST00000360358.3	+	1	781	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	OR2W3_ENST00000537741.1_Missense_Mutation_p.Q261K	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	261						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(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGTACATGCAGCCAGGAGC	0.522																																							uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(781-783)CAG>AAG		olfactory receptor, family 2, subfamily W,							130.0	121.0	124.0					1																	248059669		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059669C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.781C>A	1.37:g.248059669C>A	ENSP00000353516:p.Gln261Lys					OR2W3_uc010pzb.1_Missense_Mutation_p.Q261K	p.Q261K	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1050	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.781C>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133243	0.56828	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.37058	1.22;1.22	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.40862	0.1134	L	0.39898	1.24	0.28240	N	0.925715	D	0.55385	0.971	P	0.53360	0.724	T	0.33675	-0.9859	10	0.59425	D	0.04	.	11.2815	0.49197	0.2826:0.7174:0.0:0.0	.	261	Q7Z3T1	OR2W3_HUMAN	K	261	ENSP00000445853:Q261K;ENSP00000353516:Q261K	ENSP00000353516:Q261K	Q	+	1	0	OR2W3	246126292	0.000000	0.05858	0.999000	0.59377	0.693000	0.40251	0.090000	0.15025	2.759000	0.94783	0.609000	0.83330	CAG		0.522	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		27	70	1	0	4.7796e-09	0.004656	7.15076e-09	27	70				
OR2L8	391190	broad.mit.edu	37	1	248112502	248112502	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248112502G>C	ENST00000357191.3	+	1	343	c.343G>C	c.(343-345)Gca>Cca	p.A115P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTACTTTTGGCATCTATGGC	0.438																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(343-345)GCA>CCA		olfactory receptor, family 2, subfamily L,							295.0	245.0	262.0					1																	248112502		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112502G>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.343G>C	1.37:g.248112502G>C	ENSP00000349719:p.Ala115Pro					OR2L13_uc001ids.2_Intron	p.A115P	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	343	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		115			Helical; Name=3; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.343G>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561934	0.27915	.	.	ENSG00000196936	ENST00000357191	T	0.00484	7.08	1.64	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.535411	0.13969	U	0.350302	T	0.00608	0.0020	M	0.87682	2.9	0.09310	N	1	P	0.40398	0.716	B	0.43386	0.418	T	0.37776	-0.9691	10	0.72032	D	0.01	.	3.3728	0.07227	0.6556:0.0:0.149:0.1954	.	115	Q8NGY9	OR2L8_HUMAN	P	115	ENSP00000349719:A115P	ENSP00000349719:A115P	A	+	1	0	OR2L8	246179125	0.000000	0.05858	0.015000	0.15790	0.016000	0.09150	-0.331000	0.07914	-0.071000	0.12886	-0.361000	0.07541	GCA		0.438	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			113	95	0	0	0	0.00361	0	113	95				
OR2L13	284521	broad.mit.edu	37	1	248262910	248262910	+	Missense_Mutation	SNP	C	C	T	rs554551867		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248262910C>T	ENST00000358120.2	+	2	378	c.233C>T	c.(232-234)cCc>cTc	p.P78L	OR2L13_ENST00000366478.2_Missense_Mutation_p.P78L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	78						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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			ACCACCGTCCCCAAGATGGCG	0.537																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(232-234)CCC>CTC		olfactory receptor, family 2, subfamily L,							234.0	208.0	217.0					1																	248262910		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262910C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.233C>T	1.37:g.248262910C>T	ENSP00000350836:p.Pro78Leu						p.P78L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	570	+	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)		78			Helical; Name=2; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.233C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780808	0.49891	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.01854	4.6;4.6	4.07	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000580	T	0.07458	0.0188	H	0.97516	4.02	0.47341	D	0.999399	B	0.31817	0.341	B	0.26094	0.066	T	0.01068	-1.1462	10	0.87932	D	0	.	8.2253	0.31564	0.1554:0.7597:0.0:0.0849	.	78	Q8N349	OR2LD_HUMAN	L	78	ENSP00000355434:P78L;ENSP00000350836:P78L	ENSP00000350836:P78L	P	+	2	0	OR2L13	246329533	0.991000	0.36638	0.841000	0.33234	0.468000	0.32798	3.243000	0.51392	0.357000	0.24183	0.650000	0.86243	CCC		0.537	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		50	72	0	0	0	0.00361	0	50	72				
OR2M4	26245	broad.mit.edu	37	1	248402768	248402768	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248402768G>T	ENST00000306687.1	+	1	538	c.538G>T	c.(538-540)Gat>Tat	p.D180Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	180					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTTTTCTGTGATGTTGCTGC	0.428																																							uc010pzh.1		NA																	0				breast(2)	2						c.(538-540)GAT>TAT		olfactory receptor, family 2, subfamily M,							141.0	134.0	136.0					1																	248402768		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402768G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.538G>T	1.37:g.248402768G>T	ENSP00000306688:p.Asp180Tyr						p.D180Y	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	538	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		180			Extracellular (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.538G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550202	0.45383	.	.	ENSG00000171180	ENST00000306687	T	0.00207	8.55	3.34	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.158612	0.29314	N	0.012510	T	0.00608	0.0020	M	0.90309	3.105	0.24484	N	0.994338	D	0.89917	1.0	D	0.79108	0.992	T	0.21075	-1.0256	10	0.87932	D	0	.	9.8992	0.41338	0.1088:0.0:0.8912:0.0	.	180	Q96R27	OR2M4_HUMAN	Y	180	ENSP00000306688:D180Y	ENSP00000306688:D180Y	D	+	1	0	OR2M4	246469391	0.356000	0.24930	1.000000	0.80357	0.980000	0.70556	0.838000	0.27572	0.710000	0.31997	0.543000	0.68304	GAT		0.428	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		36	56	1	0	6.70999e-13	0.004289	1.08514e-12	36	56				
OR2T12	127064	broad.mit.edu	37	1	248458340	248458340	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248458340C>T	ENST00000317996.1	-	1	540	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V181M(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CGCACCAACACGGGGGCCTCG	0.562																																							uc010pzj.1		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(2)|ovary(1)	3						c.(541-543)GTG>ATG		olfactory receptor, family 2, subfamily T,							183.0	138.0	153.0					1																	248458340		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458340C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.541G>A	1.37:g.248458340C>T	ENSP00000324583:p.Val181Met						p.V181M	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	541	-	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)		181			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.541G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	8.997	0.979175	0.18812	.	.	ENSG00000177201	ENST00000317996	T	0.00099	8.73	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	2.110980	0.02854	N	0.129513	T	0.00109	0.0003	L	0.39245	1.2	0.09310	N	1	B	0.32829	0.386	B	0.22753	0.041	T	0.28776	-1.0033	10	0.56958	D	0.05	.	1.118	0.01718	0.1714:0.2547:0.3849:0.189	.	181	Q8NG77	O2T12_HUMAN	M	181	ENSP00000324583:V181M	ENSP00000324583:V181M	V	-	1	0	OR2T12	246524963	0.000000	0.05858	0.006000	0.13384	0.305000	0.27757	-0.323000	0.07997	-0.223000	0.09943	0.175000	0.17021	GTG		0.562	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		21	43	0	0	0	0.001882	0	21	43				
OR14C36	127066	broad.mit.edu	37	1	248512579	248512579	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248512579G>T	ENST00000317861.1	+	1	503	c.503G>T	c.(502-504)cGg>cTg	p.R168L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCCTTCTGTCGGTCCAACGTT	0.502																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(502-504)CGG>CTG		olfactory receptor, family 14, subfamily C,							146.0	125.0	132.0					1																	248512579		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512579G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.503G>T	1.37:g.248512579G>T	ENSP00000324534:p.Arg168Leu						p.R168L	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	503	+			168			Extracellular (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.503G>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499822	0.26861	.	.	ENSG00000177174	ENST00000317861	T	0.36878	1.23	4.05	-4.31	0.03698	GPCR, rhodopsin-like superfamily (1);	0.853428	0.09798	N	0.754519	T	0.31857	0.0810	L	0.61387	1.9	0.09310	N	1	P	0.38582	0.638	B	0.40741	0.339	T	0.34601	-0.9822	10	0.51188	T	0.08	.	5.4623	0.16624	0.3609:0.274:0.3651:0.0	.	168	Q8NHC7	O14CZ_HUMAN	L	168	ENSP00000324534:R168L	ENSP00000324534:R168L	R	+	2	0	OR14C36	246579202	0.000000	0.05858	0.002000	0.10522	0.571000	0.35966	0.488000	0.22371	-0.456000	0.07043	-0.531000	0.04308	CGG		0.502	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		22	31	1	0	2.21704e-12	0.00278	3.54948e-12	22	31				
ITIH2	3698	broad.mit.edu	37	10	7773912	7773912	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:7773912G>T	ENST00000358415.4	+	13	1766	c.1600G>T	c.(1600-1602)Gac>Tac	p.D534Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.D523Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	534					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D534H(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGAAAATTTGACCCTGCTAA	0.423																																							uc001ijs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1600-1602)GAC>TAC		inter-alpha globulin inhibitor H2 polypeptide							140.0	134.0	136.0					10																	7773912		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7773912G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1600G>T	10.37:g.7773912G>T	ENSP00000351190:p.Asp534Tyr						p.D534Y	NM_002216	NP_002207	P19823	ITIH2_HUMAN			13	1762	+			534					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1600G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501652	0.26949	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11604	2.76;2.76	5.44	3.58	0.41010	.	0.413380	0.29473	N	0.012057	T	0.11922	0.0290	M	0.67953	2.075	0.36865	D	0.88862	B	0.33318	0.408	B	0.30029	0.11	T	0.07443	-1.0772	10	0.59425	D	0.04	-18.979	7.5822	0.27972	0.1427:0.1363:0.721:0.0	.	534	P19823	ITIH2_HUMAN	Y	534;523	ENSP00000351190:D534Y;ENSP00000368906:D523Y	ENSP00000351190:D534Y	D	+	1	0	ITIH2	7813918	1.000000	0.71417	0.862000	0.33874	0.358000	0.29455	3.269000	0.51592	0.667000	0.31107	0.643000	0.83706	GAC		0.423	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		16	47	1	0	6.49762e-13	0.006122	1.05257e-12	16	47				
CUBN	8029	broad.mit.edu	37	10	16930475	16930475	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:16930475A>T	ENST00000377833.4	-	56	8911	c.8846T>A	c.(8845-8847)gTc>gAc	p.V2949D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2949	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTCTATGACATAGGTGCA	0.363																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8845-8847)GTC>GAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						199.0	175.0	183.0					10																	16930475		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16930475A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8846T>A	10.37:g.16930475A>T	ENSP00000367064:p.Val2949Asp					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.V305D	p.V2949D	NM_001081	NP_001072	O60494	CUBN_HUMAN			56	8898	-			2949			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8846T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608223	0.46527	.	.	ENSG00000107611	ENST00000377833	T	0.61158	0.13	5.89	2.19	0.27852	CUB (5);	1.732920	0.03547	N	0.224825	T	0.56031	0.1958	L	0.43554	1.36	0.29853	N	0.828249	P	0.40360	0.714	P	0.44673	0.457	T	0.44697	-0.9311	10	0.59425	D	0.04	.	4.5136	0.11924	0.6454:0.0:0.2231:0.1315	.	2949	O60494	CUBN_HUMAN	D	2949	ENSP00000367064:V2949D	ENSP00000367064:V2949D	V	-	2	0	CUBN	16970481	0.934000	0.31675	0.011000	0.14972	0.012000	0.07955	2.267000	0.43329	0.115000	0.18071	0.459000	0.35465	GTC		0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	43	0	0	0	0.000978	0	12	43				
CUBN	8029	broad.mit.edu	37	10	17087992	17087992	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:17087992T>C	ENST00000377833.4	-	24	3496	c.3431A>G	c.(3430-3432)aAg>aGg	p.K1144R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1144	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGTCACTCTTAAATTTTAA	0.398																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3430-3432)AAG>AGG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						147.0	140.0	142.0					10																	17087992		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17087992T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3431A>G	10.37:g.17087992T>C	ENSP00000367064:p.Lys1144Arg						p.K1144R	NM_001081	NP_001072	O60494	CUBN_HUMAN			24	3483	-			1144			CUB 6.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3431A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	2.143	-0.396377	0.04899	.	.	ENSG00000107611	ENST00000377833	T	0.34472	1.36	5.66	3.3	0.37823	CUB (5);	0.657623	0.13208	N	0.405376	T	0.18341	0.0440	N	0.25825	0.765	0.48632	D	0.999683	B	0.19331	0.035	B	0.21360	0.034	T	0.12811	-1.0533	10	0.07644	T	0.81	.	0.9857	0.01446	0.191:0.1556:0.1343:0.519	.	1144	O60494	CUBN_HUMAN	R	1144	ENSP00000367064:K1144R	ENSP00000367064:K1144R	K	-	2	0	CUBN	17127998	0.650000	0.27331	0.700000	0.30305	0.476000	0.33039	1.085000	0.30840	0.412000	0.25729	0.450000	0.29827	AAG		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		23	50	0	0	0	0.004656	0	23	50				
SLC39A12	221074	broad.mit.edu	37	10	18270281	18270281	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:18270281A>G	ENST00000377369.2	+	6	1238	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q188R|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q322R|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q322R	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	322					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATATTTCTACAGAAGGGCCTC	0.458																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(964-966)CAG>CGG		solute carrier family 39 (zinc transporter),							91.0	89.0	90.0					10																	18270281		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270281A>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.965A>G	10.37:g.18270281A>G	ENSP00000366586:p.Gln322Arg					SLC39A12_uc001ipn.2_Missense_Mutation_p.Q322R|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q322R|SLC39A12_uc010qck.1_Missense_Mutation_p.Q188R	p.Q322R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1238	+			322			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.965A>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656100	0.29425	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.61510	0.22;0.1;0.22;0.11	5.63	3.35	0.38373	.	0.456269	0.25601	N	0.029560	T	0.51856	0.1699	M	0.72479	2.2	0.18873	N	0.999986	B;B;B	0.34399	0.317;0.136;0.452	B;B;B	0.33454	0.164;0.05;0.164	T	0.40194	-0.9576	10	0.25106	T	0.35	-3.4014	9.4935	0.38974	0.7785:0.1488:0.0727:0.0	.	322;322;322	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	R	322;322;322;188;242	ENSP00000366586:Q322R;ENSP00000366591:Q322R;ENSP00000366588:Q322R;ENSP00000440445:Q188R	ENSP00000366586:Q322R	Q	+	2	0	SLC39A12	18310287	1.000000	0.71417	0.841000	0.33234	0.748000	0.42578	1.667000	0.37471	0.970000	0.38263	0.533000	0.62120	CAG		0.458	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		16	40	0	0	0	0.00499	0	16	40				
PTCHD3	374308	broad.mit.edu	37	10	27702943	27702943	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:27702943C>A	ENST00000438700.3	-	1	354	c.237G>T	c.(235-237)tcG>tcT	p.S79S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	79					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGTCCAGCATCGACGGCCGGG	0.716																																							uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(235-237)TCG>TCT		patched domain containing 3							24.0	30.0	28.0					10																	27702943		2198	4294	6492	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702943C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.237G>T	10.37:g.27702943C>A							p.S79S	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	355	-			79					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.237G>T	CCDS31173.1																																																																																				0.716	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		9	42	1	0	2.17888e-05	0.006214	2.91836e-05	9	42				
ZNF37A	7587	broad.mit.edu	37	10	38403763	38403763	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:38403763G>A	ENST00000361085.5	+	5	441	c.96G>A	c.(94-96)ctG>ctA	p.L32L	ZNF37A_ENST00000351773.3_Silent_p.L32L|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGGACCCTGTACAGGGATG	0.493																																							uc001izk.2		NA																	0				breast(1)	1						c.(94-96)CTG>CTA		zinc finger protein 37a							121.0	110.0	114.0					10																	38403763		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403763G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.96G>A	10.37:g.38403763G>A						ZNF37A_uc001izl.2_Silent_p.L32L|ZNF37A_uc001izm.2_Silent_p.L32L	p.L32L	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			6	915	+			32			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.96G>A	CCDS31183.1																																																																																				0.493	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		20	96	0	0	0	0.001523	0	20	96				
CHAT	1103	broad.mit.edu	37	10	50835818	50835818	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:50835818G>C	ENST00000337653.2	+	7	1251	c.1098G>C	c.(1096-1098)acG>acC	p.T366T	CHAT_ENST00000395559.2_Silent_p.T248T|CHAT_ENST00000339797.1_Silent_p.T248T|CHAT_ENST00000395562.2_Silent_p.T284T|CHAT_ENST00000455728.2_Silent_p.T248T|CHAT_ENST00000351556.3_Silent_p.T248T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	366					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGGCCAGGACGGTCCTCGTGA	0.602																																							uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(1096-1098)ACG>ACC		choline acetyltransferase isoform 2	Choline(DB00122)						66.0	54.0	58.0					10																	50835818		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835818G>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1098G>C	10.37:g.50835818G>C						CHAT_uc001jhv.1_Silent_p.T248T|CHAT_uc001jhx.1_Silent_p.T248T|CHAT_uc001jhy.1_Silent_p.T248T|CHAT_uc001jia.2_Silent_p.T248T|CHAT_uc010qgs.1_Silent_p.T248T	p.T366T	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1251	+		all_neural(218;0.107)	366					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1098G>C	CCDS7232.1																																																																																				0.602	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		15	30	0	0	0	0.003163	0	15	30				
ANK3	288	broad.mit.edu	37	10	61844412	61844412	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:61844412G>A	ENST00000280772.2	-	32	4213	c.4022C>T	c.(4021-4023)aCt>aTt	p.T1341I	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.T1342I|ANK3_ENST00000355288.2_Missense_Mutation_p.T475I|ANK3_ENST00000373827.2_Missense_Mutation_p.T1335I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1341	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGCTCTAAAGTTTTGTCCAC	0.373																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4021-4023)ACT>ATT		ankyrin 3 isoform 1							143.0	141.0	142.0					10																	61844412		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844412G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4022C>T	10.37:g.61844412G>A	ENSP00000280772:p.Thr1341Ile					ANK3_uc001jkw.2_Missense_Mutation_p.T475I|ANK3_uc009xpa.2_Missense_Mutation_p.T475I|ANK3_uc001jkx.2_Missense_Mutation_p.T519I|ANK3_uc010qih.1_Missense_Mutation_p.T1342I|ANK3_uc001jkz.3_Missense_Mutation_p.T1335I|ANK3_uc001jla.1_Missense_Mutation_p.T407I|ANK3_uc001jlb.1_Missense_Mutation_p.T859I|ANK3_uc001jkv.2_5'Flank	p.T1341I	NM_020987	NP_066267	Q12955	ANK3_HUMAN			32	4214	-			1341					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4022C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223599	0.95139	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.04	6.04	0.98038	.	0.000000	0.43416	D	0.000571	T	0.64789	0.2630	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;P	0.89917	0.999;1.0;0.999;1.0;0.993;1.0;0.938	D;D;D;D;P;D;P	0.91635	0.979;0.996;0.997;0.999;0.844;0.997;0.478	T	0.68176	-0.5478	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1342;475;874;1335;1341;576;475	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	I	1341;1335;475;475;1342;1321;576;976;976;474;874	ENSP00000280772:T1341I;ENSP00000362933:T1335I;ENSP00000347436:T475I;ENSP00000425236:T1342I	ENSP00000280772:T1341I	T	-	2	0	ANK3	61514418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	ACT		0.373	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		20	163	0	0	0	0.003954	0	20	163				
GRID1	2894	broad.mit.edu	37	10	87373338	87373338	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:87373338G>T	ENST00000327946.7	-	15	2512	c.2427C>A	c.(2425-2427)ggC>ggA	p.G809G	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Silent_p.G380G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	809					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGTCACAGCGGCCCATGTGCG	0.612										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2425-2427)GGC>GGA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						66.0	72.0	70.0					10																	87373338		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373338G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2427C>A	10.37:g.87373338G>T		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.G380G	p.G809G	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2528	-			809			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2427C>A	CCDS31236.1																																																																																				0.612	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		16	50	1	0	5.01169e-05	0.00499	6.63842e-05	16	50				
GRID1	2894	broad.mit.edu	37	10	87628928	87628928	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:87628928C>A	ENST00000327946.7	-	6	875	c.790G>T	c.(790-792)Gac>Tac	p.D264Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	264					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATCTCCGGGTCACTGATTTCC	0.502										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(790-792)GAC>TAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						111.0	102.0	105.0					10																	87628928		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628928C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.790G>T	10.37:g.87628928C>A	ENSP00000330148:p.Asp264Tyr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.D264Y	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	891	-			264			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.790G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548300	0.86127	.	.	ENSG00000182771	ENST00000327946	D	0.83506	-1.73	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90811	0.4701	10	0.72032	D	0.01	.	19.0974	0.93258	0.0:1.0:0.0:0.0	.	264	Q9ULK0	GRID1_HUMAN	Y	264	ENSP00000330148:D264Y	ENSP00000330148:D264Y	D	-	1	0	GRID1	87618908	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	7.802000	0.85969	2.745000	0.94114	0.655000	0.94253	GAC		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		30	53	1	0	1.99505e-19	0.002445	3.68643e-19	30	53				
PIPSL	266971	broad.mit.edu	37	10	95719309	95719309	+	RNA	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:95719309G>C	ENST00000480546.1	-	0	1988					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CCTTCTTGAGGCATTTAGCCA	0.443																																							uc009xuj.2		NA																	0					0						c.(1843-1845)TGC>TGG		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																						266971							g.chr10:95719309G>C	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719309G>C							p.C615W	NR_002319						1	2364	-								Q6NUK8	Missense_Mutation	SNP	ENST00000480546.1	37	c.1845C>G																																																																																					0.443	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		7	28	0	0	0	0.004482	0	7	28				
PLCE1	51196	broad.mit.edu	37	10	96005999	96005999	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:96005999C>A	ENST00000371380.3	+	7	2952	c.2717C>A	c.(2716-2718)gCa>gAa	p.A906E	PLCE1_ENST00000371385.3_Missense_Mutation_p.A598E|PLCE1_ENST00000371375.1_Missense_Mutation_p.A598E|PLCE1_ENST00000260766.3_Missense_Mutation_p.A906E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	906					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCAGTAAAGCAAAACTTGGT	0.512																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(2716-2718)GCA>GAA		phospholipase C, epsilon 1 isoform 1							49.0	54.0	52.0					10																	96005999		2003	4165	6168	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005999C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2717C>A	10.37:g.96005999C>A	ENSP00000360431:p.Ala906Glu					PLCE1_uc010qnx.1_Missense_Mutation_p.A906E|PLCE1_uc001kjm.2_Missense_Mutation_p.A598E	p.A906E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3351	+		Colorectal(252;0.0458)	906					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2717C>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	3.221	-0.159488	0.06544	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.86	3.99	0.46301	.	0.652897	0.15491	N	0.259566	T	0.17195	0.0413	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29341	0.201;0.145;0.242	B;B;B	0.27608	0.081;0.079;0.081	T	0.32268	-0.9913	10	0.02654	T	1	.	4.352	0.11160	0.1296:0.6108:0.1252:0.1344	.	906;598;906	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	E	906;906;598;598	ENSP00000260766:A906E;ENSP00000360431:A906E;ENSP00000360438:A598E;ENSP00000360426:A598E	ENSP00000260766:A906E	A	+	2	0	PLCE1	95995989	0.500000	0.26091	0.015000	0.15790	0.590000	0.36582	0.718000	0.25866	0.802000	0.34089	0.585000	0.79938	GCA		0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		18	35	1	0	0.000566183	0.00499	0.000727841	18	35				
SORBS1	10580	broad.mit.edu	37	10	97078119	97078119	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:97078119T>C	ENST00000361941.3	-	30	3795	c.3769A>G	c.(3769-3771)Atc>Gtc	p.I1257V	SORBS1_ENST00000371239.1_Missense_Mutation_p.I776V|SORBS1_ENST00000371247.2_Missense_Mutation_p.I1257V|SORBS1_ENST00000371241.1_Missense_Mutation_p.I649V|SORBS1_ENST00000371249.2_Missense_Mutation_p.I781V|SORBS1_ENST00000354106.3_Missense_Mutation_p.I969V|SORBS1_ENST00000607232.1_Missense_Mutation_p.I1259V|SORBS1_ENST00000371227.4_Missense_Mutation_p.I1231V|SORBS1_ENST00000371246.2_Missense_Mutation_p.I1116V|SORBS1_ENST00000277982.5_Missense_Mutation_p.I1116V|SORBS1_ENST00000371245.3_Missense_Mutation_p.I870V|SORBS1_ENST00000306402.6_Missense_Mutation_p.I746V|SORBS1_ENST00000347291.4_Missense_Mutation_p.I811V|SORBS1_ENST00000353505.5_Missense_Mutation_p.I870V|SORBS1_ENST00000393949.1_Missense_Mutation_p.I969V	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)		ACATCAACGATATCTCCATCG	0.368																																							uc001kkp.2		NA																	0				breast(1)	1						c.(3769-3771)ATC>GTC		sorbin and SH3 domain containing 1 isoform 3							180.0	163.0	169.0					10																	97078119		2203	4300	6503	SO:0001583	missense	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.chr10:97078119T>C	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.3769A>G	10.37:g.97078119T>C	ENSP00000355136:p.Ile1257Val					SORBS1_uc001kkk.2_Missense_Mutation_p.I513V|SORBS1_uc001kkl.2_Missense_Mutation_p.I601V|SORBS1_uc001kkn.2_Missense_Mutation_p.I764V|SORBS1_uc001kkm.2_Missense_Mutation_p.I799V|SORBS1_uc001kko.2_Missense_Mutation_p.I1116V|SORBS1_uc001kkq.2_Missense_Mutation_p.I870V|SORBS1_uc001kkr.2_Missense_Mutation_p.I705V|SORBS1_uc001kks.2_Missense_Mutation_p.I649V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.I746V|SORBS1_uc001kkv.2_Missense_Mutation_p.I781V|SORBS1_uc001kkw.2_Missense_Mutation_p.I1231V|SORBS1_uc010qoe.1_Missense_Mutation_p.I714V	p.I1257V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3814	-		Colorectal(252;0.0429)	1257			SH3 3.			Missense_Mutation	SNP	ENST00000361941.3	37	c.3769A>G	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643719	0.47258	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.18	5.18	0.71444	Src homology-3 domain (4);	0.000000	0.35378	N	0.003251	T	0.45337	0.1337	N	0.20610	0.595	0.40374	D	0.979372	B;P;B;B;B;D;P;P;P;P;D;B	0.54397	0.094;0.939;0.103;0.178;0.067;0.958;0.859;0.951;0.607;0.84;0.966;0.05	B;D;B;B;B;D;P;D;B;B;D;B	0.77004	0.127;0.982;0.101;0.171;0.12;0.963;0.623;0.989;0.255;0.372;0.976;0.127	T	0.27434	-1.0074	10	0.06757	T	0.87	-11.452	15.3352	0.74247	0.0:0.0:0.0:1.0	.	714;1231;781;746;649;776;870;1257;1116;811;969;513	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	V	870;746;781;1257;1231;1116;969;870;811;1257;1116;649;969;776	ENSP00000360291:I870V;ENSP00000302556:I746V;ENSP00000360295:I781V;ENSP00000360293:I1257V;ENSP00000360271:I1231V;ENSP00000360292:I1116V;ENSP00000377521:I969V;ENSP00000343998:I870V;ENSP00000277985:I811V;ENSP00000355136:I1257V;ENSP00000277982:I1116V;ENSP00000360285:I649V;ENSP00000277984:I969V;ENSP00000360283:I776V	ENSP00000277982:I1116V	I	-	1	0	SORBS1	97068109	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.059000	0.57470	2.074000	0.62210	0.459000	0.35465	ATC		0.368	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			22	72	0	0	0	0.003954	0	22	72				
PIK3AP1	118788	broad.mit.edu	37	10	98376423	98376423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:98376423C>A	ENST00000339364.5	-	13	2106	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E485*|PIK3AP1_ENST00000371109.3_Nonsense_Mutation_p.E262*|RNA5SP324_ENST00000365177.1_RNA	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	663					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTTTGCTTCTCTCTCTGTCTT	0.433																																							uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1987-1989)GAG>TAG		phosphoinositide-3-kinase adaptor protein 1							435.0	345.0	375.0					10																	98376423		2203	4300	6503	SO:0001587	stop_gained	118788					cytoplasm|plasma membrane		g.chr10:98376423C>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1987G>T	10.37:g.98376423C>A	ENSP00000339826:p.Glu663*					PIK3AP1_uc001kmo.2_Nonsense_Mutation_p.E262*|PIK3AP1_uc001kmp.2_Nonsense_Mutation_p.E485*	p.E663*	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	13	2115	-		Colorectal(252;0.0442)	663			Potential.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Nonsense_Mutation	SNP	ENST00000339364.5	37	c.1987G>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	41	8.983469	0.99025	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.081	18.751	0.91814	0.0:1.0:0.0:0.0	.	.	.	.	X	663;485;262	.	ENSP00000339826:E663X	E	-	1	0	PIK3AP1	98366413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.143000	0.77348	2.666000	0.90696	0.561000	0.74099	GAG		0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		32	45	1	0	8.73648e-17	0.004289	1.54867e-16	32	45				
R3HCC1L	27291	broad.mit.edu	37	10	99968119	99968119	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:99968119G>T	ENST00000298999.3	+	5	551	c.248G>T	c.(247-249)aGa>aTa	p.R83I	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R83I|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	83							nucleotide binding (GO:0000166)										CATAATTGTAGAGAAGAAAAG	0.343																																							uc001kow.3		NA																	0				large_intestine(1)|skin(1)	2						c.(247-249)AGA>ATA		growth inhibition and differentiation related							72.0	78.0	76.0					10																	99968119		2202	4299	6501	SO:0001583	missense	27291						nucleotide binding	g.chr10:99968119G>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.248G>T	10.37:g.99968119G>T	ENSP00000298999:p.Arg83Ile					C10orf28_uc001kox.3_Missense_Mutation_p.R83I|C10orf28_uc001koy.3_Missense_Mutation_p.R83I|C10orf28_uc009xvx.2_Missense_Mutation_p.R83I|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.R83I	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	543	+		Colorectal(252;0.234)	83					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.248G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602018	0.28534	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.11930	2.73;2.73	5.85	1.97	0.26223	.	0.258350	0.34291	N	0.004094	T	0.27933	0.0688	M	0.71581	2.175	0.20638	N	0.999873	D;D	0.61080	0.989;0.989	P;P	0.61201	0.885;0.885	T	0.05194	-1.0900	9	.	.	.	-6.2591	8.3137	0.32086	0.3107:0.0:0.6893:0.0	.	83;83	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	I	83	ENSP00000359616:R83I;ENSP00000298999:R83I	.	R	+	2	0	C10orf28	99958109	0.651000	0.27340	0.034000	0.17996	0.048000	0.14542	0.044000	0.13992	0.105000	0.17753	0.655000	0.94253	AGA		0.343	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		27	92	1	0	6.32553e-13	0.004656	1.02643e-12	27	92				
FBXW4	6468	broad.mit.edu	37	10	103427688	103427688	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:103427688T>C	ENST00000331272.7	-	5	1343	c.725A>G	c.(724-726)cAg>cGg	p.Q242R		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	242					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GTCTTCAGTCTGGATGGTGTG	0.498																																							uc001kto.2		NA																	0				skin(1)	1						c.(724-726)CAG>CGG		F-box and WD repeat domain containing 4							125.0	123.0	124.0					10																	103427688		2203	4300	6503	SO:0001583	missense	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103427688T>C	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.725A>G	10.37:g.103427688T>C	ENSP00000359149:p.Gln242Arg						p.Q242R	NM_022039	NP_071322	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	5	1071	-		Colorectal(252;0.123)	242					Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	c.725A>G	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528276	0.44969	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.17370	2.28	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.061993	0.64402	D	0.000004	T	0.20861	0.0502	L	0.53249	1.67	0.39539	D	0.968794	P	0.48230	0.907	B	0.44224	0.444	T	0.06006	-1.0851	10	0.15066	T	0.55	-9.3002	16.3473	0.83146	0.0:0.0:0.0:1.0	.	242	P57775	FBXW4_HUMAN	R	242;242;155;198	ENSP00000359149:Q242R	ENSP00000359149:Q242R	Q	-	2	0	FBXW4	103417678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.458000	0.60095	2.320000	0.78422	0.528000	0.53228	CAG		0.498	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		50	38	0	0	0	0.00361	0	50	38				
PSD	5662	broad.mit.edu	37	10	104176638	104176638	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:104176638G>A	ENST00000020673.5	-	2	684	c.158C>T	c.(157-159)cCa>cTa	p.P53L	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.P53L|FBXL15_ENST00000369956.2_5'Flank|FBXL15_ENST00000224862.3_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	53	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCGAGGACCTGGACCTGCCAC	0.697																																							uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(157-159)CCA>CTA		pleckstrin and Sec7 domain containing							27.0	27.0	27.0					10																	104176638		2189	4280	6469	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176638G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.158C>T	10.37:g.104176638G>A	ENSP00000020673:p.Pro53Leu					PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.P53L|PSD_uc001kvi.1_Missense_Mutation_p.P53L|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	p.P53L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	685	-			53			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.158C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638848	0.47153	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.28666	1.6;1.6	5.08	5.08	0.68730	.	0.325746	0.25386	N	0.031049	T	0.16385	0.0394	N	0.08118	0	0.19575	N	0.999963	B	0.16603	0.018	B	0.11329	0.006	T	0.12760	-1.0535	10	0.33141	T	0.24	.	11.5252	0.50576	0.087:0.0:0.913:0.0	.	53	A5PKW4	PSD1_HUMAN	L	53	ENSP00000020673:P53L;ENSP00000384830:P53L	ENSP00000020673:P53L	P	-	2	0	PSD	104166628	0.034000	0.19679	0.850000	0.33497	0.993000	0.82548	1.855000	0.39378	2.375000	0.81037	0.561000	0.74099	CCA		0.697	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			6	18	0	0	0	0.00308	0	6	18				
NRAP	4892	broad.mit.edu	37	10	115384620	115384620	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:115384620G>A	ENST00000359988.3	-	22	2558	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	NRAP_ENST00000369360.3_Silent_p.L745L|NRAP_ENST00000360478.3_Silent_p.L737L|NRAP_ENST00000369358.4_Silent_p.L780L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGGCCTGCAGGAAGAGAGGC	0.532																																							uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2314-2316)CTG>TTG		nebulin-related anchoring protein isoform S							172.0	152.0	159.0					10																	115384620		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115384620G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2314C>T	10.37:g.115384620G>A						NRAP_uc009xyb.2_Silent_p.L83L|NRAP_uc001lak.2_Silent_p.L737L|NRAP_uc001lal.3_Silent_p.L772L	p.L772L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	22	2478	-		Colorectal(252;0.0233)|Breast(234;0.188)	772			Nebulin 19.			Silent	SNP	ENST00000359988.3	37	c.2314C>T	CCDS7579.1																																																																																				0.532	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		11	97	0	0	0	0.00499	0	11	97				
CUZD1	50624	broad.mit.edu	37	10	124593398	124593398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:124593398G>A	ENST00000368904.1	-	10	2390	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	CUZD1_ENST00000545804.1_Nonsense_Mutation_p.Q481*|CUZD1_ENST00000392790.1_Nonsense_Mutation_p.Q481*					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCATTAAACTGGAATCTCCCA	0.378																																							uc001lgq.2		NA																	0				ovary(1)|skin(1)	2						c.(1441-1443)CAG>TAG		CUB and zona pellucida-like domains 1 precursor							97.0	95.0	96.0					10																	124593398		2203	4300	6503	SO:0001587	stop_gained	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124593398G>A	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1441C>T	10.37:g.124593398G>A	ENSP00000357900:p.Gln481*					CUZD1_uc001lgp.2_Nonsense_Mutation_p.Q200*|CUZD1_uc009yad.2_Nonsense_Mutation_p.Q200*|CUZD1_uc009yaf.2_Nonsense_Mutation_p.Q115*|CUZD1_uc001lgr.2_Nonsense_Mutation_p.Q200*|CUZD1_uc010qty.1_Nonsense_Mutation_p.Q200*|CUZD1_uc009yae.2_Nonsense_Mutation_p.Q200*|CUZD1_uc001lgs.2_Nonsense_Mutation_p.Q481*|CUZD1_uc010qtz.1_Nonsense_Mutation_p.Q481*	p.Q481*	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	8	1773	-		all_neural(114;0.169)|Glioma(114;0.222)	481			Extracellular (Potential).|ZP.			Nonsense_Mutation	SNP	ENST00000368904.1	37	c.1441C>T	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	44	11.144066	0.99522	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	.	.	.	5.24	5.24	0.73138	.	0.245083	0.39083	N	0.001461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-13.3751	12.2181	0.54418	0.0:0.0:0.7194:0.2806	.	.	.	.	X	481;200;200;115;200;481;481	.	ENSP00000340905:Q115X	Q	-	1	0	CUZD1	124583388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.671000	0.46842	2.616000	0.88540	0.655000	0.94253	CAG		0.378	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		13	53	0	0	0	0.001855	0	13	53				
PSTK	118672	broad.mit.edu	37	10	124740202	124740202	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:124740202G>A	ENST00000368887.3	+	1	647	c.207G>A	c.(205-207)gcG>gcA	p.A69A	PSTK_ENST00000405485.1_Silent_p.A69A	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	69					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GGGCAAGAGCGCGACCGGCGG	0.771											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001lgy.1		NA																	0				liver(1)	1						c.(205-207)GCG>GCA		phosphoseryl-tRNA kinase							8.0	8.0	8.0					10																	124740202		2026	4019	6045	SO:0001819	synonymous_variant	118672						ATP binding|kinase activity	g.chr10:124740202G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.207G>A	10.37:g.124740202G>A			OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1536		p.A69A	NM_153336	NP_699167	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	1	647	+		all_neural(114;0.169)|Glioma(114;0.222)	69					Q6ZSS9	Silent	SNP	ENST00000368887.3	37	c.207G>A	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116679	0.20795	.	.	ENSG00000179988	ENST00000406217	.	.	.	4.2	-8.41	0.00961	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.20196	N	0.99992	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	-1.12	1.9639	0.03392	0.2017:0.102:0.3924:0.3039	.	.	.	.	H	70	.	.	R	+	2	0	PSTK	124730192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.122000	0.03267	-1.595000	0.01613	-0.780000	0.03373	CGC		0.771	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		5	9	0	0	0	0.001168	0	5	9				
C10orf90	118611	broad.mit.edu	37	10	128192828	128192828	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:128192828G>A	ENST00000284694.7	-	3	1061	c.941C>T	c.(940-942)cCa>cTa	p.P314L	C10orf90_ENST00000356858.3_Missense_Mutation_p.P267L|C10orf90_ENST00000392694.1_Missense_Mutation_p.P267L|C10orf90_ENST00000544758.1_Missense_Mutation_p.P411L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P314L|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	314					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCGCTTATTGGCTCTCTGTT	0.532											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ljq.2		NA																	0				ovary(1)|skin(1)	2						c.(940-942)CCA>CTA		hypothetical protein LOC118611							95.0	95.0	95.0					10																	128192828		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192828G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.941C>T	10.37:g.128192828G>A	ENSP00000284694:p.Pro314Leu		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.P267L|C10orf90_uc010qum.1_Missense_Mutation_p.P411L|C10orf90_uc009yao.2_Missense_Mutation_p.P411L|C10orf90_uc001ljs.1_Missense_Mutation_p.P267L	p.P314L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	1062	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	314					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.941C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912206	0.72983	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23950	2.2;2.2;2.21;2.2;1.88	5.1	3.17	0.36434	.	0.381353	0.22971	N	0.053429	T	0.42337	0.1198	M	0.61703	1.905	0.23693	N	0.997095	D;D;D;D;D	0.76494	0.997;0.986;0.999;0.997;0.997	P;P;D;P;P	0.74023	0.856;0.84;0.982;0.856;0.856	T	0.07328	-1.0778	10	0.87932	D	0	-4.0302	8.0654	0.30657	0.0841:0.0:0.7556:0.1603	.	411;411;267;314;314	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	267;314;314;411;314;267;267	ENSP00000284694:P314L;ENSP00000398786:P314L;ENSP00000444369:P411L;ENSP00000405995:P314L;ENSP00000376459:P267L	ENSP00000284694:P314L	P	-	2	0	C10orf90	128182818	0.041000	0.20044	0.940000	0.37924	0.279000	0.26890	2.119000	0.41958	2.652000	0.90054	0.655000	0.94253	CCA		0.532	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		38	32	0	0	0	0.00623	0	38	32				
C10orf90	118611	broad.mit.edu	37	10	128193239	128193239	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:128193239G>A	ENST00000284694.7	-	3	650	c.530C>T	c.(529-531)cCc>cTc	p.P177L	C10orf90_ENST00000356858.3_Missense_Mutation_p.P130L|C10orf90_ENST00000392694.1_Missense_Mutation_p.P130L|C10orf90_ENST00000544758.1_Missense_Mutation_p.P274L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P177L|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	177	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P177L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGAGCCGGGGGCGCCTGGAA	0.667											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ljq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(529-531)CCC>CTC		hypothetical protein LOC118611							46.0	54.0	51.0					10																	128193239		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193239G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.530C>T	10.37:g.128193239G>A	ENSP00000284694:p.Pro177Leu		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.P130L|C10orf90_uc010qum.1_Missense_Mutation_p.P274L|C10orf90_uc009yao.2_Missense_Mutation_p.P274L|C10orf90_uc001ljs.1_Missense_Mutation_p.P130L	p.P177L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	651	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	177					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.530C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917721	0.52546	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.27557	1.99;1.97;2.02;1.99;1.66	4.8	1.84	0.25277	.	0.000000	0.42548	D	0.000695	T	0.27419	0.0673	M	0.61703	1.905	0.09310	N	0.999998	B;P;P;B;B	0.44380	0.368;0.834;0.765;0.368;0.368	B;B;B;B;B	0.41666	0.15;0.363;0.346;0.15;0.15	T	0.20505	-1.0273	10	0.87932	D	0	-8.3484	4.9112	0.13823	0.0867:0.1463:0.6169:0.1501	.	274;274;130;177;177	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	130;177;177;274;177;130;130	ENSP00000284694:P177L;ENSP00000398786:P177L;ENSP00000444369:P274L;ENSP00000405995:P177L;ENSP00000376459:P130L	ENSP00000284694:P177L	P	-	2	0	C10orf90	128183229	0.022000	0.18835	0.003000	0.11579	0.003000	0.03518	1.497000	0.35649	1.241000	0.43820	0.655000	0.94253	CCC		0.667	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		21	64	0	0	0	0.003954	0	21	64				
MUC2	4583	broad.mit.edu	37	11	1093613	1093613	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:1093613C>T	ENST00000441003.2	+	30	5459	c.5432C>T	c.(5431-5433)cCa>cTa	p.P1811L	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P99L|MUC2_ENST00000359061.5_Missense_Mutation_p.P1767L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACAGACCCCAACCATGATA	0.607																																							uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(12517-12519)CCA>CTA		mucin 2 precursor	Pranlukast(DB01411)						114.0	152.0	139.0					11																	1093613		2193	4273	6466	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093613C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5432C>T	11.37:g.1093613C>T	ENSP00000415183:p.Pro1811Leu						p.P4173L	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	12545	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4173					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.12518C>T		.	.	.	.	.	.	.	.	.	.	C	8.570	0.879730	0.17467	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.16196	3.13;3.14;2.36	1.55	-3.1	0.05315	.	0.000000	0.40640	U	0.001057	T	0.08670	0.0215	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14783	-1.0460	9	0.62326	D	0.03	.	1.4119	0.02293	0.1999:0.4343:0.1993:0.1664	.	1811	E7EUV1	.	L	1811;1767;99	ENSP00000415183:P1811L;ENSP00000351956:P1767L;ENSP00000331373:P99L	ENSP00000331373:P99L	P	+	2	0	MUC2	1083613	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.188000	0.32102	-0.572000	0.06006	0.195000	0.17529	CCA		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		26	18	0	0	0	0.003954	0	26	18				
IGF2	3481	broad.mit.edu	37	11	2156610	2156610	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:2156610G>T	ENST00000416167.2	-	2	1310	c.144C>A	c.(142-144)cgC>cgA	p.R48R	MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381389.1_Silent_p.R48R|IGF2_ENST00000300632.5_Silent_p.R48R|IGF2_ENST00000418738.2_Silent_p.R48R|IGF2_ENST00000381392.1_Silent_p.R48R|IGF2_ENST00000434045.2_Silent_p.R104R|IGF2_ENST00000381395.1_Silent_p.R48R|IGF2_ENST00000381406.4_Silent_p.R48R			P01344	IGF2_HUMAN	insulin-like growth factor 2	48	B.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGTAGAAGCCGCGGTCCCCAC	0.637																																							uc009yde.2		NA																	0				central_nervous_system(1)	1						c.(142-144)CGC>CGA		insulin-like growth factor 2 isoform 1							35.0	31.0	32.0					11																	2156610		2202	4297	6499	SO:0001819	synonymous_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2156610G>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.144C>A	11.37:g.2156610G>T						IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Silent_p.R48R|IGF2_uc009ydf.2_Silent_p.R104R|IGF2_uc001lvh.2_Silent_p.R48R|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA	p.R48R	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	247	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	48			B.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	ENST00000416167.2	37	c.144C>A	CCDS7728.1																																																																																				0.637	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		9	6	1	0	1.58986e-06	0.008291	2.2161e-06	9	6				
ZNF195	7748	broad.mit.edu	37	11	3392868	3392868	+	Silent	SNP	G	G	A	rs370038920		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:3392868G>A	ENST00000399602.4	-	2	195	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ZNF195_ENST00000526601.1_Silent_p.L27L|ZNF195_ENST00000527386.1_5'UTR|AC123788.1_ENST00000581561.1_RNA|ZNF195_ENST00000528796.1_Silent_p.L23L|ZNF195_ENST00000354599.6_Silent_p.L23L|ZNF195_ENST00000343338.7_Silent_p.L27L|ZNF195_ENST00000438262.2_Silent_p.L27L|ZNF195_ENST00000005082.9_Silent_p.L23L|ZNF195_ENST00000429541.2_Silent_p.L27L	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTGCTGAGCGAGGTCCAGGC	0.443																																							uc001lxt.2		NA																	0					0						c.(67-69)CTC>CTT		zinc finger protein 195 isoform 1		A	,,,,,	0,4398		0,0,2199	78.0	84.0	82.0		69,69,81,81,81,69	-2.4	0.0	11		82	1,8595	810.8+/-407.1	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF195	NM_001130519.2,NM_001130520.2,NM_001242841.1,NM_001242842.1,NM_001242843.1,NM_007152.4	,,,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	23/607,23/630,27/611,27/585,27/562,23/558	3392868	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3392868G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.69C>T	11.37:g.3392868G>A						ZNF195_uc001lxv.2_Silent_p.L23L|ZNF195_uc001lxs.2_Silent_p.L23L|ZNF195_uc010qxr.1_Silent_p.L27L|ZNF195_uc009ydz.2_Silent_p.L27L|ZNF195_uc001lxu.2_Silent_p.L27L	p.L23L	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	247	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	23			KRAB.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.69C>T	CCDS44522.1																																																																																				0.443	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			28	57	0	0	0	0.008361	0	28	57				
OR52I1	390037	broad.mit.edu	37	11	4616129	4616129	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:4616129C>A	ENST00000530443.2	+	1	861	c.861C>A	c.(859-861)atC>atA	p.I287I	OR52I1_ENST00000450052.2_Silent_p.I311I	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACGTGATCATCCCAGCCA	0.498																																							uc010qyi.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(859-861)ATC>ATA		olfactory receptor, family 52, subfamily I,							131.0	128.0	129.0					11																	4616129		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4616129C>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.861C>A	11.37:g.4616129C>A							p.I287I	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	861	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	287			Helical; Name=7; (Potential).		Q6IF91	Silent	SNP	ENST00000530443.2	37	c.861C>A	CCDS59223.1																																																																																				0.498	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		54	49	1	0	9.57592e-29	0.00361	1.9415e-28	54	49				
OR52R1	119695	broad.mit.edu	37	11	4825134	4825134	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:4825134C>A	ENST00000356069.2	-	1	476	c.477G>T	c.(475-477)gtG>gtT	p.V159V	OR52R1_ENST00000380382.1_Silent_p.V238V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGGGGCTCACCCACAGCA	0.562																																							uc010qym.1		NA																	0				skin(1)	1						c.(712-714)GTG>GTT		olfactory receptor, family 52, subfamily R,							114.0	95.0	101.0					11																	4825134		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825134C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.477G>T	11.37:g.4825134C>A							p.V238V	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	714	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	159			Helical; Name=4; (Potential).		Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.714G>T	CCDS31360.2																																																																																				0.562	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		49	37	1	0	3.21987e-24	0.00361	6.25072e-24	49	37				
OR56A4	120793	broad.mit.edu	37	11	6024341	6024341	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6024341A>T	ENST00000330728.4	-	1	83	c.38T>A	c.(37-39)aTa>aAa	p.I13K		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						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)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCCCTGTATCTGTCCCAA	0.368																																							uc010qzv.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(37-39)ATA>AAA		olfactory receptor, family 56, subfamily A,							105.0	117.0	113.0					11																	6024341		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024341A>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.38T>A	11.37:g.6024341A>T	ENSP00000328215:p.Ile13Lys						p.I13K	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	38	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Error:Variant_position_missing_in_Q8NGH8_after_alignment					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.38T>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428873	0.43122	.	.	ENSG00000183389	ENST00000330728	T	0.00616	6.2	3.64	-4.67	0.03319	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44483	-0.9325	7	0.48119	T	0.1	.	0.0811	0.00031	0.3214:0.1601:0.2056:0.3129	.	.	.	.	K	13	ENSP00000328215:I13K	ENSP00000328215:I13K	I	-	2	0	OR56A4	5980917	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.804000	0.04535	-1.105000	0.03011	0.454000	0.30748	ATA		0.368	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		27	36	0	0	0	0.002096	0	27	36				
FAM160A2	84067	broad.mit.edu	37	11	6240220	6240220	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6240220G>A	ENST00000449352.2	-	7	1515	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	FAM160A2_ENST00000524416.1_Silent_p.L418L|FAM160A2_ENST00000265978.4_Silent_p.L418L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	418					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGCAGCAGGACATCCTCA	0.577																																							uc001mcl.3		NA																	0				skin(2)	2						c.(1252-1254)CTG>TTG		hypothetical protein LOC84067 isoform 2							48.0	40.0	43.0					11																	6240220		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6240220G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1252C>T	11.37:g.6240220G>A						FAM160A2_uc001mck.3_Silent_p.L418L|FAM160A2_uc001mcm.2_Silent_p.L418L	p.L418L	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			7	1611	-			418					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1252C>T	CCDS44530.1																																																																																				0.577	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		18	13	0	0	0	0.006122	0	18	13				
OR6A2	8590	broad.mit.edu	37	11	6816722	6816722	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6816722C>A	ENST00000332601.3	-	1	406	c.218G>T	c.(217-219)tGg>tTg	p.W73L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGACATACCAGATCTCCAG	0.438																																							uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(217-219)TGG>TTG		olfactory receptor, family 6, subfamily A,							159.0	147.0	151.0					11																	6816722		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816722C>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.218G>T	11.37:g.6816722C>A	ENSP00000330384:p.Trp73Leu						p.W73L	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	418	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	73			Helical; Name=2; (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.218G>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035449	0.35893	.	.	ENSG00000184933	ENST00000332601	T	0.00522	6.84	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.00784	0.0026	N	0.25094	0.71	0.27364	N	0.9559	D	0.71674	0.998	D	0.65010	0.931	T	0.61128	-0.7125	10	0.46703	T	0.11	.	12.7371	0.57232	0.1656:0.8344:0.0:0.0	.	73	O95222	OR6A2_HUMAN	L	73	ENSP00000330384:W73L	ENSP00000330384:W73L	W	-	2	0	OR6A2	6773298	0.006000	0.16342	0.998000	0.56505	0.409000	0.31022	2.237000	0.43061	1.434000	0.47414	-0.182000	0.12963	TGG		0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		19	60	1	0	2.54575e-18	0.001523	4.67696e-18	19	60				
SYT9	143425	broad.mit.edu	37	11	7441858	7441858	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:7441858C>A	ENST00000318881.6	+	6	1696	c.1459C>A	c.(1459-1461)Ctg>Atg	p.L487M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	487					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGGCATTCCCTGGTGGAGGT	0.507																																							uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1459-1461)CTG>ATG		synaptotagmin IX							142.0	116.0	125.0					11																	7441858		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441858C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1459C>A	11.37:g.7441858C>A	ENSP00000324419:p.Leu487Met					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.L487M	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1696	+			487			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.1459C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543823	0.65198	.	.	ENSG00000170743	ENST00000318881	T	0.75589	-0.95	5.64	2.25	0.28309	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.45361	D	0.000364	D	0.88691	0.6505	H	0.97103	3.94	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.87158	0.2213	10	0.62326	D	0.03	.	8.3932	0.32542	0.0:0.6933:0.0:0.3067	.	487	Q86SS6	SYT9_HUMAN	M	487	ENSP00000324419:L487M	ENSP00000324419:L487M	L	+	1	2	SYT9	7398434	0.936000	0.31750	0.956000	0.39512	0.993000	0.82548	2.026000	0.41069	0.262000	0.21774	0.655000	0.94253	CTG		0.507	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		33	28	1	0	7.63505e-26	0.002445	1.51281e-25	33	28				
NLRP10	338322	broad.mit.edu	37	11	7984990	7984990	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:7984990C>A	ENST00000328600.2	-	1	214	c.53G>T	c.(52-54)aGt>aTt	p.S18I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	18	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAAGGTCACTCAAGGCCCA	0.572																																							uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(52-54)AGT>ATT		NLR family, pyrin domain containing 10							50.0	48.0	49.0					11																	7984990		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7984990C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.53G>T	11.37:g.7984990C>A	ENSP00000327763:p.Ser18Ile						p.S18I	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	70	-			18			DAPIN.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.53G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635881	0.87760	.	.	ENSG00000182261	ENST00000328600;ENST00000526590	T;T	0.44482	0.92;0.92	4.13	-2.71	0.05986	Pyrin (2);DEATH-like (2);	0.615885	0.14565	N	0.311788	T	0.46268	0.1384	L	0.44542	1.39	0.09310	N	0.999999	D	0.64830	0.994	P	0.60886	0.88	T	0.44636	-0.9315	10	0.72032	D	0.01	.	9.4173	0.38530	0.0:0.2638:0.0:0.7362	.	18	Q86W26	NAL10_HUMAN	I	18	ENSP00000327763:S18I;ENSP00000436255:S18I	ENSP00000327763:S18I	S	-	2	0	NLRP10	7941566	0.000000	0.05858	0.722000	0.30670	0.854000	0.48673	-1.360000	0.02600	-0.485000	0.06754	0.563000	0.77884	AGT		0.572	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		18	47	1	0	5.3912e-06	0.006122	7.36491e-06	18	47				
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	G	rs140917604		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:11292739C>G	ENST00000227756.4	-	11	2187	c.1776G>C	c.(1774-1776)tcG>tcC	p.S592S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	592	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGTGCTGGCCCGAGCACTTCT	0.617																																							uc001mjo.2		NA																	0					0						c.(1774-1776)TCG>TCC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							83.0	76.0	78.0					11																	11292739		2201	4294	6495	SO:0001819	synonymous_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11292739C>G	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1776G>C	11.37:g.11292739C>G							p.S592S	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	11	2197	-			592			Lumenal (Potential).|Ricin B-type lectin.		O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1776G>C	CCDS7807.1																																																																																				0.617	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		37	26	0	0	0	0.005524	0	37	26				
KCNC1	3746	broad.mit.edu	37	11	17758089	17758089	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:17758089C>T	ENST00000379472.3	+	1	570	c.540C>T	c.(538-540)ttC>ttT	p.F180F	KCNC1_ENST00000265969.6_Silent_p.F180F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	180					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGGCGCTCTTCGAGGACCCGT	0.687																																							uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(538-540)TTC>TTT		Shaw-related voltage-gated potassium channel							5.0	6.0	5.0					11																	17758089		1990	3945	5935	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17758089C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.540C>T	11.37:g.17758089C>T						KCNC1_uc009yhc.1_Silent_p.F180F	p.F180F	NM_004976	NP_004967	P48547	KCNC1_HUMAN			1	595	+			180			Cytoplasmic (Potential).		K4DI87	Silent	SNP	ENST00000379472.3	37	c.540C>T	CCDS7827.1																																																																																				0.687	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		8	6	0	0	0	0.00308	0	8	6				
UEVLD	55293	broad.mit.edu	37	11	18587914	18587914	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:18587914T>C	ENST00000396197.3	-	5	501	c.473A>G	c.(472-474)tAt>tGt	p.Y158C	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000543987.1_Missense_Mutation_p.Y158C|UEVLD_ENST00000535484.1_Missense_Mutation_p.Y120C|UEVLD_ENST00000379387.4_Missense_Mutation_p.Y136C|UEVLD_ENST00000300038.7_Missense_Mutation_p.Y158C|UEVLD_ENST00000320750.6_Missense_Mutation_p.Y136C	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTTTGCAATATAGGCTAGCAA	0.378																																							uc001mot.2		NA																	0					0						c.(472-474)TAT>TGT		ubiquitin-conjugating enzyme E2-like isoform a							84.0	84.0	84.0					11																	18587914		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18587914T>C	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.473A>G	11.37:g.18587914T>C	ENSP00000379500:p.Tyr158Cys					UEVLD_uc001mou.2_Missense_Mutation_p.Y158C|UEVLD_uc010rde.1_Missense_Mutation_p.Y28C|UEVLD_uc010rdf.1_Missense_Mutation_p.Y136C|UEVLD_uc010rdg.1_Missense_Mutation_p.Y28C|UEVLD_uc001mov.2_Missense_Mutation_p.Y136C|UEVLD_uc010rdh.1_Missense_Mutation_p.Y158C	p.Y158C	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			5	553	-			158						Missense_Mutation	SNP	ENST00000396197.3	37	c.473A>G	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748578	0.69533	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.83914	-1.75;-1.74;-0.86;-1.78;-0.87	5.98	5.98	0.97165	.	0.057989	0.64402	D	0.000001	D	0.89632	0.6771	M	0.61703	1.905	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.983;0.957;0.991;0.983;0.962	D	0.90504	0.4476	10	0.87932	D	0	-12.6922	15.0492	0.71854	0.0:0.0:0.0:1.0	.	158;136;136;158;158	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	C	158;120;158;136;136;158	ENSP00000442974:Y158C;ENSP00000441092:Y120C;ENSP00000379500:Y158C;ENSP00000323353:Y136C;ENSP00000368697:Y136C	ENSP00000300038:Y158C	Y	-	2	0	UEVLD	18544490	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.580000	0.46068	2.288000	0.76882	0.528000	0.53228	TAT		0.378	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		45	22	0	0	0	0.002522	0	45	22				
PTPN5	84867	broad.mit.edu	37	11	18765577	18765577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:18765577G>T	ENST00000358540.2	-	4	697	c.267C>A	c.(265-267)tgC>tgA	p.C89*	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.C89*|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Nonsense_Mutation_p.C89*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.C65*|PTPN5_ENST00000396170.1_Nonsense_Mutation_p.C89*	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	89					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAGCGAACAGGCACAGGCTGC	0.662																																							uc001mpd.2		NA																	0				ovary(2)	2						c.(265-267)TGC>TGA		protein-tyrosine-phosphatase non-receptor 5							69.0	72.0	71.0					11																	18765577		2199	4293	6492	SO:0001587	stop_gained	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765577G>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.267C>A	11.37:g.18765577G>T	ENSP00000351342:p.Cys89*					PTPN5_uc001mpb.2_Nonsense_Mutation_p.C89*|PTPN5_uc001mpc.2_Nonsense_Mutation_p.C89*|PTPN5_uc001mpe.2_Nonsense_Mutation_p.C89*|PTPN5_uc010rdj.1_Nonsense_Mutation_p.C65*|PTPN5_uc001mpf.2_Nonsense_Mutation_p.C65*|PTPN5_uc010rdk.1_Nonsense_Mutation_p.C34*	p.C89*	NM_006906	NP_008837	P54829	PTN5_HUMAN			4	698	-			89					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Nonsense_Mutation	SNP	ENST00000358540.2	37	c.267C>A	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	40	8.354881	0.98774	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	.	.	.	4.76	2.82	0.32997	.	0.206511	0.34906	N	0.003590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.875	4.3506	0.11153	0.1984:0.0:0.6218:0.1798	.	.	.	.	X	89;89;89;89;65	.	ENSP00000351342:C89X	C	-	3	2	PTPN5	18722153	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.342000	0.43992	0.512000	0.28257	0.491000	0.48974	TGC		0.662	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		27	57	1	0	3.65163e-15	0.00632	6.25341e-15	27	57				
SLC6A5	9152	broad.mit.edu	37	11	20622673	20622673	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:20622673A>T	ENST00000525748.1	+	2	276		c.e2-1			NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGTGTTTGCAGGATTGCAGT	0.532																																							uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.e2-2		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						11.0	12.0	11.0					11																	20622673		2126	4266	6392	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622673A>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.4-1A>T	11.37:g.20622673A>T						SLC6A5_uc009yic.2_Splice_Site	p.D2_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			2	277	+								O95288|Q4VAM7|Q9BX77	Splice_Site	SNP	ENST00000525748.1	37	c.4_splice	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005878	0.74932	.	.	ENSG00000165970	ENST00000525748	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7928	0.69854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A5	20579249	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.048000	0.89442	2.176000	0.68965	0.379000	0.24179	.		0.532	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Intron	4	9	0	0	0	0.000602	0	4	9				
SLC17A6	57084	broad.mit.edu	37	11	22363101	22363101	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:22363101G>C	ENST00000263160.3	+	2	551	c.114G>C	c.(112-114)ggG>ggC	p.G38G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	38					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAGACACCGGGGAGACAATCG	0.642																																							uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(112-114)GGG>GGC		solute carrier family 17 (sodium-dependent							59.0	64.0	63.0					11																	22363101		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363101G>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.114G>C	11.37:g.22363101G>C							p.G38G	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			2	527	+			38			Cytoplasmic (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.114G>C	CCDS7856.1																																																																																				0.642	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		13	63	0	0	0	0.004007	0	13	63				
SLC5A12	159963	broad.mit.edu	37	11	26725171	26725171	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:26725171A>T	ENST00000396005.3	-	6	1037	c.728T>A	c.(727-729)gTg>gAg	p.V243E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V243E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	243					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGTTCCTCCCACTGTGATAGT	0.408																																							uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(727-729)GTG>GAG		solute carrier family 5 (sodium/glucose							129.0	124.0	125.0					11																	26725171		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725171A>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.728T>A	11.37:g.26725171A>T	ENSP00000379326:p.Val243Glu					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V243E	p.V243E	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			6	1041	-			243			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.728T>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670489	0.88348	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88741	-2.42;-2.42;-2.42	5.51	5.51	0.81932	.	0.361911	0.23870	N	0.043760	D	0.94745	0.8304	M	0.87682	2.9	0.23271	N	0.99801	P;D	0.64830	0.676;0.994	P;D	0.65987	0.776;0.94	D	0.89846	0.4006	10	0.87932	D	0	.	15.6015	0.76628	1.0:0.0:0.0:0.0	.	243;243	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	E	243;243;55	ENSP00000379326:V243E;ENSP00000280467:V243E;ENSP00000435053:V55E	ENSP00000280467:V243E	V	-	2	0	SLC5A12	26681747	0.976000	0.34144	0.885000	0.34714	0.965000	0.64279	9.287000	0.95975	2.094000	0.63399	0.477000	0.44152	GTG		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		33	131	0	0	0	0.002096	0	33	131				
DCDC1	341019	broad.mit.edu	37	11	31125268	31125268	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:31125268T>C	ENST00000597505.1	-	12	1799	c.1800A>G	c.(1798-1800)gcA>gcG	p.A600A	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTCTGGCAAATGCACTCACTC	0.368																																							uc009yjk.1		NA																	0					NA						c.(142-144)GCA>GCG		RecName: Full=Doublecortin domain-containing protein 5;							116.0	110.0	112.0					11																	31125268		1908	4129	6037	SO:0001819	synonymous_variant	0							g.chr11:31125268T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1800A>G	11.37:g.31125268T>C						uc009yjl.1_5'UTR|DCDC1_uc001msu.1_Silent_p.A219A	p.A48A							2	213	-								A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.144A>G																																																																																					0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		57	25	0	0	0	0.00361	0	57	25				
KIAA1549L	25758	broad.mit.edu	37	11	33565256	33565256	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:33565256T>G	ENST00000321505.4	+	1	1436	c.1256T>G	c.(1255-1257)tTg>tGg	p.L419W	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L419W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L419W			Q6ZVL6	K154L_HUMAN	KIAA1549-like	419						integral component of membrane (GO:0016021)											ATATCTGGCTTGCAGCAGCAA	0.398											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001mup.3		NA																	0				ovary(2)	2						c.(1255-1257)TTG>TGG		hypothetical protein LOC25758							52.0	52.0	52.0					11																	33565256		1860	4096	5956	SO:0001583	missense	25758					integral to membrane		g.chr11:33565256T>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1256T>G	11.37:g.33565256T>G	ENSP00000315295:p.Leu419Trp		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Missense_Mutation_p.L419W	p.L419W	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1380	+			419					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1256T>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779462	0.31502	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.65	0.632	0.17705	.	0.991170	0.08196	N	0.983060	T	0.29850	0.0746	L	0.33485	1.01	0.09310	N	1	B;B	0.24368	0.03;0.102	B;B	0.24155	0.011;0.051	T	0.29427	-1.0012	9	0.46703	T	0.11	0.0027	5.0083	0.14298	0.0:0.2361:0.1467:0.6172	.	419;419	E9PAT2;Q6ZVL6-2	.;.	W	419;419;419;259	.	ENSP00000265654:L419W	L	+	2	0	C11orf41	33521832	0.029000	0.19370	0.987000	0.45799	0.998000	0.95712	0.182000	0.16900	0.071000	0.16664	0.454000	0.30748	TTG		0.398	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		9	47	0	0	0	0.006214	0	9	47				
PAMR1	25891	broad.mit.edu	37	11	35456226	35456226	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:35456226A>G	ENST00000378880.2	-	10	1905	c.1460T>C	c.(1459-1461)cTa>cCa	p.L487P	PAMR1_ENST00000378878.3_Missense_Mutation_p.L376P|PAMR1_ENST00000278360.3_Missense_Mutation_p.L504P|PAMR1_ENST00000532848.1_Missense_Mutation_p.L447P	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	487	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GCTGCAGACTAGGAACCACGC	0.617																																							uc001mwg.2		NA																	0				ovary(2)	2						c.(1459-1461)CTA>CCA		regeneration associated muscle protease isoform							103.0	88.0	93.0					11																	35456226		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456226A>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1460T>C	11.37:g.35456226A>G	ENSP00000368158:p.Leu487Pro					PAMR1_uc001mwf.2_Missense_Mutation_p.L504P|PAMR1_uc010rew.1_Missense_Mutation_p.L376P|PAMR1_uc010rex.1_Missense_Mutation_p.L447P	p.L487P	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			10	1503	-			487			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1460T>C	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588705	0.66105	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.96210	0.8764	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.961	D	0.96746	0.9550	10	0.87932	D	0	.	15.3558	0.74425	1.0:0.0:0.0:0.0	.	376;487;504	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	P	504;487;376;447;464	ENSP00000278360:L504P;ENSP00000368158:L487P;ENSP00000368156:L376P;ENSP00000433868:L447P;ENSP00000432591:L464P	ENSP00000278360:L504P	L	-	2	0	PAMR1	35412802	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	9.326000	0.96389	2.043000	0.60533	0.454000	0.30748	CTA		0.617	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		53	37	0	0	0	0.00361	0	53	37				
PRR5L	79899	broad.mit.edu	37	11	36484178	36484178	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:36484178C>G	ENST00000378867.3	+	10	1354	c.999C>G	c.(997-999)caC>caG	p.H333Q	PRR5L_ENST00000311599.5_Missense_Mutation_p.H260Q|PRR5L_ENST00000530639.1_Missense_Mutation_p.H333Q|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	333					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCCCGCCCCACCGGCAGTGCT	0.672																																							uc001mwo.3		NA																	0				ovary(1)	1						c.(997-999)CAC>CAG		protor-2 isoform a							30.0	30.0	30.0					11																	36484178		2199	4298	6497	SO:0001583	missense	79899							g.chr11:36484178C>G		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.999C>G	11.37:g.36484178C>G	ENSP00000368144:p.His333Gln					PRR5L_uc001mwp.2_Missense_Mutation_p.H333Q|PRR5L_uc009ykk.2_Missense_Mutation_p.H205Q|PRR5L_uc010rfc.1_3'UTR	p.H333Q	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN			9	1388	+			333					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.999C>G	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	9.025	0.985961	0.18889	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	D;D;D	0.81908	-1.55;-1.55;-1.55	5.41	4.5	0.54988	.	0.338684	0.31847	N	0.006977	T	0.72053	0.3413	N	0.24115	0.695	0.39667	D	0.970708	B;B	0.17667	0.023;0.007	B;B	0.16289	0.015;0.007	T	0.66139	-0.5998	10	0.19590	T	0.45	-5.634	14.6071	0.68486	0.0:0.8546:0.1454:0.0	.	205;333	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Q	333;260;333	ENSP00000435050:H333Q;ENSP00000310103:H260Q;ENSP00000368144:H333Q	ENSP00000310103:H260Q	H	+	3	2	PRR5L	36440754	1.000000	0.71417	0.989000	0.46669	0.192000	0.23643	2.407000	0.44565	1.270000	0.44297	-0.314000	0.08810	CAC		0.672	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		26	15	0	0	0	0.003954	0	26	15				
ALX4	60529	broad.mit.edu	37	11	44289130	44289130	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:44289130G>T	ENST00000329255.3	-	3	923	c.820C>A	c.(820-822)Cgt>Agt	p.R274S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	274					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCCCAAAACGCTCCCGCTTC	0.597																																							uc001myb.2		NA																	0					0						c.(820-822)CGT>AGT		aristaless-like homeobox 4							178.0	145.0	156.0					11																	44289130		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44289130G>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.820C>A	11.37:g.44289130G>T	ENSP00000332744:p.Arg274Ser						p.R274S	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			3	924	-			274					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.820C>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700390	0.68501	.	.	ENSG00000052850	ENST00000329255	D	0.92805	-3.11	4.88	3.9	0.45041	Homeobox (1);Homeodomain-like (1);	0.116529	0.64402	D	0.000018	D	0.95255	0.8461	M	0.75777	2.31	0.80722	D	1	D	0.63046	0.992	D	0.69654	0.965	D	0.95417	0.8503	10	0.87932	D	0	.	15.2394	0.73455	0.0:0.0:0.8593:0.1407	.	274	Q9H161	ALX4_HUMAN	S	274	ENSP00000332744:R274S	ENSP00000332744:R274S	R	-	1	0	ALX4	44245706	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.592000	0.53993	2.700000	0.92200	0.462000	0.41574	CGT		0.597	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			49	31	1	0	6.4308e-24	0.00361	1.23838e-23	49	31				
LRP4	4038	broad.mit.edu	37	11	46898090	46898090	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:46898090C>A	ENST00000378623.1	-	25	3705	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1155					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGCATGGACCCGTCCAGGTTG	0.572																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3463-3465)GGG>TGG		low density lipoprotein receptor-related protein							159.0	138.0	146.0					11																	46898090		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898090C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3463G>T	11.37:g.46898090C>A	ENSP00000367888:p.Gly1155Trp						p.G1155W	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	25	3609	-			1155			Extracellular (Potential).|LDL-receptor class B 12.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3463G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851008	0.91277	.	.	ENSG00000134569	ENST00000378623	D	0.99245	-5.62	5.09	5.09	0.68999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97392	0.9990	10	0.87932	D	0	.	18.8691	0.92306	0.0:1.0:0.0:0.0	.	1155	O75096	LRP4_HUMAN	W	1155	ENSP00000367888:G1155W	ENSP00000367888:G1155W	G	-	1	0	LRP4	46854666	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.763000	0.85283	2.538000	0.85594	0.561000	0.74099	GGG		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		62	47	1	0	5.82218e-30	0.00361	1.19305e-29	62	47				
OR4A16	81327	broad.mit.edu	37	11	55111468	55111468	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55111468C>T	ENST00000314721.2	+	1	842	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCAACTTTCCCTTTGATAAAT	0.368																																							uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(790-792)CCC>CCT		olfactory receptor, family 4, subfamily A,							133.0	124.0	127.0					11																	55111468		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111468C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.792C>T	11.37:g.55111468C>T							p.P264P	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	792	+			264			Extracellular (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.792C>T	CCDS31499.1																																																																																				0.368	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	28	0	0	0	0.008291	0	10	28				
OR4C15	81309	broad.mit.edu	37	11	55321937	55321937	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55321937T>A	ENST00000314644.2	+	1	155	c.155T>A	c.(154-156)tTg>tAg	p.L52*		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCTTTTCCTTGGGAAACATG	0.353										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(154-156)TTG>TAG		olfactory receptor, family 4, subfamily C,							148.0	153.0	151.0					11																	55321937		2201	4296	6497	SO:0001587	stop_gained	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321937T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.155T>A	11.37:g.55321937T>A	ENSP00000324958:p.Leu52*	HNSCC(20;0.049)					p.L52*	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	155	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Nonsense_Mutation	SNP	ENST00000314644.2	37	c.155T>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739355	0.15642	.	.	ENSG00000181939	ENST00000314644	.	.	.	4.88	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6942	0.05129	0.3284:0.2342:0.0:0.4374	.	.	.	.	X	52	.	ENSP00000324958:L52X	L	+	2	0	OR4C15	55078513	0.123000	0.22298	0.001000	0.08648	0.180000	0.23129	1.440000	0.35024	0.061000	0.16311	0.317000	0.21355	TTG		0.353	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		80	68	0	0	0	0.00361	0	80	68				
OR4C15	81309	broad.mit.edu	37	11	55322871	55322871	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55322871T>A	ENST00000314644.2	+	1	1089	c.1089T>A	c.(1087-1089)gaT>gaA	p.D363E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGTTTCTGATGAGAAAGAAA	0.318										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(1087-1089)GAT>GAA		olfactory receptor, family 4, subfamily C,							36.0	37.0	37.0					11																	55322871		2199	4292	6491	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322871T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1089T>A	11.37:g.55322871T>A	ENSP00000324958:p.Asp363Glu	HNSCC(20;0.049)					p.D363E	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	1089	+			309			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1089T>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.543084	0.27563	.	.	ENSG00000181939	ENST00000314644	T	0.00001	9.9	5.03	2.5	0.30297	.	.	.	.	.	T	0.00039	0.0001	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.00016	-1.2389	9	0.15499	T	0.54	.	10.3073	0.43689	0.0:0.0:0.313:0.687	.	309	Q8NGM1	OR4CF_HUMAN	E	363	ENSP00000324958:D363E	ENSP00000324958:D363E	D	+	3	2	OR4C15	55079447	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	0.181000	0.16880	0.901000	0.36495	0.323000	0.21402	GAT		0.318	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		11	28	0	0	0	0.000978	0	11	28				
OR4C15	81309	broad.mit.edu	37	11	55322888	55322888	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55322888A>C	ENST00000314644.2	+	1	1106	c.1106A>C	c.(1105-1107)aAa>aCa	p.K369T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAAATATTAAACTTTAAAAA	0.308										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(1105-1107)AAA>ACA		olfactory receptor, family 4, subfamily C,							21.0	21.0	21.0					11																	55322888		2160	4267	6427	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322888A>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1106A>C	11.37:g.55322888A>C	ENSP00000324958:p.Lys369Thr	HNSCC(20;0.049)					p.K369T	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	1106	+			315			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1106A>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168390	0.21621	.	.	ENSG00000181939	ENST00000314644	T	0.00006	9.72	3.91	-3.26	0.05064	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16217	-1.0410	9	0.66056	D	0.02	.	0.4593	0.00513	0.2764:0.1346:0.1869:0.4021	.	315	Q8NGM1	OR4CF_HUMAN	T	369	ENSP00000324958:K369T	ENSP00000324958:K369T	K	+	2	0	OR4C15	55079464	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	2.498000	0.45363	-0.636000	0.05524	0.323000	0.21402	AAA		0.308	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		7	18	0	0	0	0.00308	0	7	18				
OR4C11	219429	broad.mit.edu	37	11	55371095	55371095	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55371095C>A	ENST00000302231.4	-	1	779	c.755G>T	c.(754-756)tGt>tTt	p.C252F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATGAATATACATGGGCCAAA	0.438																																							uc010rii.1		NA																	0				ovary(1)	1						c.(754-756)TGT>TTT		olfactory receptor, family 4, subfamily C,							67.0	57.0	61.0					11																	55371095		2179	4004	6183	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371095C>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.755G>T	11.37:g.55371095C>A	ENSP00000306651:p.Cys252Phe						p.C252F	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	755	-			252			Helical; Name=6; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.755G>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516737	0.27123	.	.	ENSG00000172188	ENST00000302231	T	0.00107	8.72	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	U	0.000060	T	0.00468	0.0015	M	0.78285	2.405	0.20196	N	0.999921	D	0.60160	0.987	D	0.67103	0.949	T	0.49744	-0.8907	10	0.87932	D	0	.	15.467	0.75409	0.0:1.0:0.0:0.0	.	252	Q6IEV9	OR4CB_HUMAN	F	252	ENSP00000306651:C252F	ENSP00000306651:C252F	C	-	2	0	OR4C11	55127671	0.000000	0.05858	0.643000	0.29450	0.010000	0.07245	-0.711000	0.05019	2.306000	0.77630	0.478000	0.44815	TGT		0.438	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		42	5	1	0	2.77807e-22	0.003214	5.3177e-22	42	5				
OR5D16	390144	broad.mit.edu	37	11	55607040	55607040	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55607040C>T	ENST00000378396.1	+	1	813	c.813C>T	c.(811-813)caC>caT	p.H271H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACTCCAGGCACACAGTCAAAG	0.488																																							uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(811-813)CAC>CAT		olfactory receptor, family 5, subfamily D,							94.0	86.0	88.0					11																	55607040		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607040C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.813C>T	11.37:g.55607040C>T							p.H271H	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	813	+		all_epithelial(135;0.208)	271			Extracellular (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.813C>T	CCDS31512.1																																																																																				0.488	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		17	45	0	0	0	0.004007	0	17	45				
OR5F1	338674	broad.mit.edu	37	11	55761952	55761953	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55761952_55761953CC>AT	ENST00000278409.1	-	1	148_149	c.149_150GG>AT	c.(148-150)aGG>aAT	p.R50N		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	50					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGGAATCGATCCTGATTAAGAG	0.436																																							uc010riv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(148-150)AGG>AAT		olfactory receptor, family 5, subfamily F,																																				SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761952_55761953CC>AT	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.149_150delinsAT	11.37:g.55761952_55761953delinsAT	ENSP00000278409:p.Arg50Asn						p.R50N	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	149_150	-	Esophageal squamous(21;0.00448)		50			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	DNP	ENST00000278409.1	37	c.149_150GG>AT	CCDS31515.1																																																																																				0.436	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		12	48	0	0	0	0.004672	0	12	48				
OR8K5	219453	broad.mit.edu	37	11	55926917	55926917	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55926917T>C	ENST00000313447.1	-	1	876	c.877A>G	c.(877-879)Aga>Gga	p.R293G		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCTTCGTTTCTTAAGCTGTAA	0.313																																							uc010rja.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(877-879)AGA>GGA		olfactory receptor, family 8, subfamily K,							73.0	69.0	70.0					11																	55926917		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926917T>C	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.877A>G	11.37:g.55926917T>C	ENSP00000323853:p.Arg293Gly						p.R293G	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	877	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	293			Cytoplasmic (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.877A>G	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592580	0.46214	.	.	ENSG00000181752	ENST00000313447	T	0.40476	1.03	3.88	-0.613	0.11594	.	0.000000	0.64402	D	0.000006	T	0.76026	0.3930	H	0.99668	4.69	0.24301	N	0.995126	D	0.89917	1.0	D	0.85130	0.997	T	0.67795	-0.5578	10	0.87932	D	0	.	9.9528	0.41649	0.0:0.0:0.5002:0.4998	.	293	Q8NH50	OR8K5_HUMAN	G	293	ENSP00000323853:R293G	ENSP00000323853:R293G	R	-	1	2	OR8K5	55683493	0.546000	0.26457	0.917000	0.36280	0.585000	0.36419	2.174000	0.42482	0.130000	0.18549	0.381000	0.24937	AGA		0.313	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		18	59	0	0	0	0.006122	0	18	59				
OR5AR1	219493	broad.mit.edu	37	11	56431458	56431459	+	Missense_Mutation	DNP	CC	CC	AA	rs368554217		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:56431458_56431459CC>AA	ENST00000302969.2	+	1	321_322	c.297_298CC>AA	c.(295-300)acCCag>acAAag	p.Q100K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGTGCCACCCAGTTTGCTTT	0.505																																							uc010rjm.1		NA																	0					0						c.(295-300)ACCCAG>ACAAAG		olfactory receptor, family 5, subfamily AR,																																				SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431458_56431459CC>AA	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	Exception_encountered	11.37:g.56431458_56431459delinsAA	ENSP00000302639:p.Gln100Lys						p.Q100K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	297_298	+			100			Extracellular (Potential).		Q6IF61	Missense_Mutation	DNP	ENST00000302969.2	37	c.297_298CC>AA	CCDS31535.1																																																																																				0.505	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		79	101	0	0	0	0.004672	0	79	101				
OR4D11	219986	broad.mit.edu	37	11	59271420	59271420	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:59271420G>T	ENST00000313253.1	+	1	372	c.372G>T	c.(370-372)atG>atT	p.M124I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	124						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(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCTACATGGCCATCTCCA	0.512																																							uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(370-372)ATG>ATT		olfactory receptor, family 4, subfamily D,							180.0	164.0	169.0					11																	59271420		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271420G>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.372G>T	11.37:g.59271420G>T	ENSP00000320077:p.Met124Ile						p.M124I	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	372	+			124			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.372G>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	G	1.732	-0.493977	0.04322	.	.	ENSG00000176200	ENST00000313253	T	0.00451	7.35	5.44	-2.11	0.07187	GPCR, rhodopsin-like superfamily (1);	0.877489	0.09866	N	0.745582	T	0.00178	0.0005	N	0.04746	-0.17	0.29719	N	0.838778	B	0.02656	0.0	B	0.01281	0.0	T	0.12630	-1.0540	10	0.49607	T	0.09	-1.8981	6.4086	0.21678	0.485:0.0:0.3968:0.1182	.	124	Q8NGI4	OR4DB_HUMAN	I	124	ENSP00000320077:M124I	ENSP00000320077:M124I	M	+	3	0	OR4D11	59027996	0.012000	0.17670	0.073000	0.20177	0.157000	0.22087	-0.678000	0.05209	-0.767000	0.04633	-0.259000	0.10710	ATG		0.512	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		36	108	1	0	3.61848e-18	0.007835	6.5971e-18	36	108				
MS4A1	931	broad.mit.edu	37	11	60230578	60230578	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:60230578T>A	ENST00000534668.1	+	3	552	c.263T>A	c.(262-264)cTc>cAc	p.L88H	MS4A1_ENST00000389939.2_Missense_Mutation_p.L88H|MS4A1_ENST00000532073.1_Missense_Mutation_p.L88H|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.L88H|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	88					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TGGTACCCTCTCTGGGGAGGC	0.478																																							uc001npp.2		NA																	0				ovary(3)|lung(2)	5						c.(262-264)CTC>CAC		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						99.0	102.0	101.0					11																	60230578		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230578T>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.263T>A	11.37:g.60230578T>A	ENSP00000433277:p.Leu88His					MS4A1_uc009ymy.1_Missense_Mutation_p.L88H|MS4A1_uc001npq.2_Missense_Mutation_p.L88H|MS4A1_uc009yna.2_Missense_Mutation_p.L88H|MS4A1_uc009ymz.2_Missense_Mutation_p.L88H|MS4A1_uc010rlc.1_Intron	p.L88H	NM_152866	NP_690605	P11836	CD20_HUMAN			4	679	+			88			Helical; (Potential).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.263T>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921501	0.73213	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000533306;ENST00000389939	T;T;T;T;T	0.02763	4.17;4.17;4.17;4.17;4.17	5.84	5.84	0.93424	.	0.562991	0.20047	N	0.100383	T	0.14960	0.0361	M	0.78637	2.42	0.38499	D	0.948183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	T	0.00343	-1.1802	10	0.87932	D	0	-22.228	12.6077	0.56532	0.0:0.0:0.0:1.0	.	88;88;88	E9PKH8;A8K803;P11836	.;.;CD20_HUMAN	H	88;88;88;91;88	ENSP00000314620:L88H;ENSP00000433519:L88H;ENSP00000433277:L88H;ENSP00000437002:L91H;ENSP00000374589:L88H	ENSP00000314620:L88H	L	+	2	0	MS4A1	59987154	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.819000	0.55686	2.243000	0.73865	0.533000	0.62120	CTC		0.478	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			27	82	0	0	0	0.001786	0	27	82				
FADS3	3995	broad.mit.edu	37	11	61646289	61646289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:61646289C>A	ENST00000278829.2	-	4	705	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C	FADS3_ENST00000540820.1_Missense_Mutation_p.G185C|FADS3_ENST00000525588.1_Missense_Mutation_p.G157C|FADS3_ENST00000527697.1_Missense_Mutation_p.G61C	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	185					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGCATGGCCCAGGTCATGC	0.632																																							uc001nsm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(553-555)GGC>TGC		fatty acid desaturase 3							70.0	60.0	63.0					11																	61646289		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646289C>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.553G>T	11.37:g.61646289C>A	ENSP00000278829:p.Gly185Cys					FADS3_uc001nsn.2_Missense_Mutation_p.G61C	p.G185C	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			4	706	-			185			Cytoplasmic (Potential).|Histidine box-1.		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.553G>T	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419393	0.62622	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.66	5.66	0.87406	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.50616	0.1626	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55444	-0.8140	9	0.52906	T	0.07	-17.0904	18.3381	0.90295	0.0:1.0:0.0:0.0	.	61;185	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	C	61;185;185;157;61;61	ENSP00000431533:G61C;ENSP00000278829:G185C;ENSP00000439308:G185C;ENSP00000432206:G157C;ENSP00000436890:G61C;ENSP00000434551:G61C	ENSP00000278829:G185C	G	-	1	0	FADS3	61402865	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	6.979000	0.76154	2.666000	0.90696	0.655000	0.94253	GGC		0.632	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			21	28	1	0	0.000295444	0.002299	0.000383397	21	28				
AHNAK	79026	broad.mit.edu	37	11	62292378	62292378	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:62292378C>G	ENST00000378024.4	-	5	9785	c.9511G>C	c.(9511-9513)Gac>Cac	p.D3171H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3171					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)				AGGTTCACGTCCACTTCTGGA	0.502																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9511-9513)GAC>CAC		AHNAK nucleoprotein isoform 1							227.0	235.0	233.0					11																	62292378		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292378C>G	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.9511G>C	11.37:g.62292378C>G	ENSP00000367263:p.Asp3171His					AHNAK_uc001ntk.1_Intron	p.D3171H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9811	-		Melanoma(852;0.155)	3171					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9511G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.162456	0.38217	.	.	ENSG00000124942	ENST00000378024	T	0.02067	4.47	3.79	3.79	0.43588	.	.	.	.	.	T	0.20495	0.0493	H	0.95982	3.75	0.44508	D	0.997452	D	0.89917	1.0	D	0.87578	0.998	T	0.38542	-0.9656	9	0.72032	D	0.01	-19.5719	15.2472	0.73513	0.0:1.0:0.0:0.0	.	3171	Q09666	AHNK_HUMAN	H	3171	ENSP00000367263:D3171H	ENSP00000367263:D3171H	D	-	1	0	AHNAK	62048954	1.000000	0.71417	0.993000	0.49108	0.149000	0.21700	7.196000	0.77805	1.642000	0.50584	0.305000	0.20034	GAC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		196	167	0	0	0	0.00361	0	196	167				
SLC22A8	9376	broad.mit.edu	37	11	62766562	62766562	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:62766562C>T	ENST00000336232.2	-	5	728		c.e5-1		SLC22A8_ENST00000311438.8_Splice_Site|SLC22A8_ENST00000430500.2_Splice_Site|SLC22A8_ENST00000545207.1_Splice_Site|SLC22A8_ENST00000535878.1_Splice_Site|SLC22A8_ENST00000542795.1_Splice_Site	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8						glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CATTCCACATCTGTGGGAGGA	0.607																																							uc001nwo.2		NA																	0				skin(2)|ovary(1)	3						c.e5-1		solute carrier family 22 member 8							72.0	67.0	69.0					11																	62766562		2201	4298	6499	SO:0001630	splice_region_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62766562C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.593-1G>A	11.37:g.62766562C>T						SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc001nwp.2_Splice_Site_p.N198_splice|SLC22A8_uc009yom.2_Splice_Site_p.N75_splice|SLC22A8_uc010rmm.1_Splice_Site_p.N107_splice|SLC22A8_uc009yon.2_Splice_Site_p.N198_splice	p.N198_splice	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			5	729	-								B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Splice_Site	SNP	ENST00000336232.2	37	c.593_splice	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586909	0.66105	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3885	0.74723	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A8	62523138	1.000000	0.71417	0.988000	0.46212	0.803000	0.45373	6.526000	0.73799	2.229000	0.72834	0.505000	0.49811	.		0.607	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	Intron	13	34	0	0	0	0.001855	0	13	34				
SLC22A9	114571	broad.mit.edu	37	11	63141448	63141448	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:63141448G>A	ENST00000279178.3	+	4	993	c.744G>A	c.(742-744)ctG>ctA	p.L248L	SLC22A9_ENST00000310969.4_Missense_Mutation_p.G197S	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	248					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTATGACCCTGGCAGGCCTGG	0.473																																							uc001nww.2		NA																	0				breast(2)|large_intestine(1)	3						c.(742-744)CTG>CTA		solute carrier family 22 (organic anion/cation							93.0	83.0	86.0					11																	63141448		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63141448G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.744G>A	11.37:g.63141448G>A						SLC22A9_uc001nwx.2_RNA	p.L248L	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			4	1012	+			248			Helical; (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.744G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110823	0.20714	.	.	ENSG00000149742	ENST00000310969	T	0.53857	0.6	4.45	0.369	0.16151	.	.	.	.	.	T	0.37544	0.1007	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28004	-1.0057	6	0.27082	T	0.32	.	5.3642	0.16105	0.2201:0.0:0.6409:0.139	.	.	.	.	S	197	ENSP00000311527:G197S	ENSP00000311527:G197S	G	+	1	0	SLC22A9	62898024	0.447000	0.25673	0.007000	0.13788	0.009000	0.06853	-0.155000	0.10115	0.003000	0.14656	0.530000	0.56133	GGC		0.473	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		12	40	0	0	0	0.001368	0	12	40				
SLC22A12	116085	broad.mit.edu	37	11	64359072	64359072	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:64359072G>T	ENST00000377574.1	+	1	791	c.44G>T	c.(43-45)aGg>aTg	p.R15M	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R15M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R15M|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R15M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	15					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGCCTGGGCAGGTTCCAGGTT	0.617																																							uc001oam.1		NA																	0				ovary(1)	1						c.(43-45)AGG>ATG		urate anion exchanger 1 isoform a							83.0	81.0	82.0					11																	64359072		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359072G>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.44G>T	11.37:g.64359072G>T	ENSP00000366797:p.Arg15Met					SLC22A12_uc009ypr.1_Missense_Mutation_p.R15M|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Missense_Mutation_p.R15M|SLC22A12_uc001oan.1_Missense_Mutation_p.R15M|SLC22A12_uc009ypt.2_5'Flank	p.R15M	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	791	+			15			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.44G>T	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874856	0.72180	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.31	3.39	0.38822	.	0.126603	0.50627	D	0.000119	T	0.74450	0.3718	M	0.92649	3.33	0.25546	N	0.987131	D;D;D;D	0.76494	0.996;0.998;0.999;0.998	P;P;D;P	0.74348	0.901;0.901;0.983;0.901	T	0.65849	-0.6068	10	0.54805	T	0.06	.	9.174	0.37100	0.1088:0.0:0.8912:0.0	.	15;15;15;15	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	M	15	ENSP00000366790:R15M;ENSP00000366797:R15M;ENSP00000366795:R15M;ENSP00000336836:R15M	ENSP00000336836:R15M	R	+	2	0	SLC22A12	64115648	0.999000	0.42202	0.998000	0.56505	0.973000	0.67179	3.441000	0.52893	1.941000	0.56285	0.484000	0.47621	AGG		0.617	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		8	117	1	0	7.48243e-07	0.006214	1.05369e-06	8	117				
DPF2	5977	broad.mit.edu	37	11	65111510	65111510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:65111510G>T	ENST00000528416.1	+	6	740	c.607G>T	c.(607-609)Gag>Tag	p.E203*	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Nonsense_Mutation_p.E203*|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	203					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TTCCATCCTGGAGGACCGGGA	0.567																																							uc001odm.2		NA																	0				ovary(1)	1						c.(607-609)GAG>TAG		D4, zinc and double PHD fingers family 2							80.0	73.0	75.0					11																	65111510		2201	4297	6498	SO:0001587	stop_gained	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65111510G>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.607G>T	11.37:g.65111510G>T	ENSP00000436901:p.Glu203*					DPF2_uc001odn.2_Nonsense_Mutation_p.E203*|DPF2_uc010roe.1_Intron	p.E203*	NM_006268	NP_006259	Q92785	REQU_HUMAN			6	619	+			203					A8K7C9|B4DT58	Nonsense_Mutation	SNP	ENST00000528416.1	37	c.607G>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295353	0.81025	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	.	.	.	5.8	4.89	0.63831	.	0.000000	0.38111	N	0.001802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-34.1536	12.7018	0.57038	0.0795:0.0:0.9205:0.0	.	.	.	.	X	203	.	ENSP00000252268:E203X	E	+	1	0	DPF2	64868086	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.598000	0.98277	1.461000	0.47929	-0.145000	0.13849	GAG		0.567	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		27	35	1	0	2.44723e-14	0.004656	4.10296e-14	27	35				
CD248	57124	broad.mit.edu	37	11	66083697	66083697	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:66083697C>A	ENST00000311330.3	-	1	818	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	268					anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAACTGCGCCCGTCTGCTGCC	0.672																																							uc001ohm.1		NA																	0				large_intestine(3)	3						c.(802-804)GGG>TGG		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						27.0	36.0	33.0					11																	66083697		2200	4292	6492	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083697C>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.802G>T	11.37:g.66083697C>A	ENSP00000308117:p.Gly268Trp						p.G268W	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	819	-			268			Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.802G>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000174807	ENST00000311330	D	0.97328	-4.34	4.08	4.08	0.47627	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.76433	2.335	0.46874	D	0.999238	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-23.87	13.7729	0.63036	0.0:1.0:0.0:0.0	.	268	Q9HCU0	CD248_HUMAN	W	268	ENSP00000308117:G268W	ENSP00000308117:G268W	G	-	1	0	CD248	65840273	0.995000	0.38212	0.953000	0.39169	0.979000	0.70002	3.197000	0.51028	2.107000	0.64212	0.462000	0.41574	GGG		0.672	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		20	17	1	0	1.87028e-06	0.001882	2.59566e-06	20	17				
POLD4	57804	broad.mit.edu	37	11	67120236	67120236	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:67120236C>G	ENST00000312419.3	-	3	371	c.225G>C	c.(223-225)caG>caC	p.Q75H	AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR|POLD4_ENST00000539074.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	75					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CCAAGCCCATCTGCTTGGCCC	0.652																																							uc001okm.2		NA																	0					0						c.(223-225)CAG>CAC		DNA-directed DNA polymerase delta 4							25.0	28.0	27.0					11																	67120236		2194	4286	6480	SO:0001583	missense	57804				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:67120236C>G	AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"""DNA polymerases"""	14106	protein-coding gene	gene with protein product	"""DNA polymerase delta smallest subunit p12"""	611525	"""polymerase (DNA-directed), delta 4"""			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.225G>C	11.37:g.67120236C>G	ENSP00000311368:p.Gln75His					LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR	p.Q75H	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.08e-06)		3	372	-			75					F5H506	Missense_Mutation	SNP	ENST00000312419.3	37	c.225G>C	CCDS8158.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574333	0.45902	.	.	ENSG00000175482	ENST00000312419	T	0.32272	1.46	4.13	2.13	0.27403	.	0.172052	0.28171	N	0.016325	T	0.18383	0.0441	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.15870	0.014	T	0.06373	-1.0830	10	0.41790	T	0.15	-14.981	4.8789	0.13670	0.2085:0.6783:0.0:0.1132	.	75	Q9HCU8	DPOD4_HUMAN	H	75	ENSP00000311368:Q75H	ENSP00000311368:Q75H	Q	-	3	2	POLD4	66876812	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.472000	0.35376	0.963000	0.38082	0.462000	0.41574	CAG		0.652	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173		16	32	0	0	0	0.007413	0	16	32				
UVRAG	7405	broad.mit.edu	37	11	75562951	75562951	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:75562951C>T	ENST00000356136.3	+	2	382	c.141C>T	c.(139-141)aaC>aaT	p.N47N	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	47	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATCTTCGGAACATTGCTGCCC	0.373																																							uc001oxc.2		NA																	0				skin(4)|lung(2)	6						c.(139-141)AAC>AAT		UV radiation resistance associated							129.0	131.0	130.0					11																	75562951		2200	4293	6493	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75562951C>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.141C>T	11.37:g.75562951C>T						UVRAG_uc010rrw.1_5'UTR	p.N47N	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			2	382	+			47			C2.		B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.141C>T	CCDS8241.1																																																																																				0.373	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		35	120	0	0	0	0.00623	0	35	120				
TSKU	25987	broad.mit.edu	37	11	76507537	76507537	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:76507537C>G	ENST00000527881.1	+	2	1903	c.877C>G	c.(877-879)Ccc>Gcc	p.P293A	TSKU_ENST00000333090.4_Missense_Mutation_p.P293A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	293					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.P293A(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CAACCTGGTGCCCCTGCCTGA	0.682																																							uc001oxt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CCC>GCC		tsukushin precursor							25.0	27.0	26.0					11																	76507537		2195	4287	6482	SO:0001583	missense	25987					extracellular region		g.chr11:76507537C>G	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.877C>G	11.37:g.76507537C>G	ENSP00000434847:p.Pro293Ala						p.P293A	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	1049	+	Ovarian(111;0.112)		293			LRR 10.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.877C>G	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.918299	0.00503	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.04119	3.7;3.7	4.64	1.52	0.23074	.	0.303789	0.37483	N	0.002074	T	0.00875	0.0029	N	0.00315	-1.66	0.36170	D	0.848726	B	0.19331	0.035	B	0.15484	0.013	T	0.36866	-0.9730	10	0.05959	T	0.93	-20.3787	1.387	0.02242	0.1542:0.3728:0.2762:0.1968	.	293	Q8WUA8	TSK_HUMAN	A	293;261;293	ENSP00000332668:P293A;ENSP00000434847:P293A	ENSP00000332668:P293A	P	+	1	0	TSKU	76185185	0.029000	0.19370	0.996000	0.52242	0.081000	0.17604	1.516000	0.35856	1.076000	0.40961	0.561000	0.74099	CCC		0.682	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		27	20	0	0	0	0.005443	0	27	20				
DDIAS	220042	broad.mit.edu	37	11	82645081	82645081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:82645081C>A	ENST00000533655.1	+	6	2913	c.2701C>A	c.(2701-2703)Cca>Aca	p.P901T	C11orf82_ENST00000329143.3_Missense_Mutation_p.P600T|C11orf82_ENST00000430323.2_Missense_Mutation_p.P901T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		901					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACAAGAGTTACCAAGAAAGAA	0.348																																							uc001ozt.2		NA																	0				ovary(2)	2						c.(2701-2703)CCA>ACA		nitric oxide-inducible gene protein							46.0	47.0	47.0					11																	82645081		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645081C>A																												ENST00000533655.1:c.2701C>A	11.37:g.82645081C>A	ENSP00000435421:p.Pro901Thr					C11orf82_uc010rsr.1_Missense_Mutation_p.P600T|C11orf82_uc010rss.1_Missense_Mutation_p.P600T|C11orf82_uc009yvd.2_Intron	p.P901T	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2945	+			901					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2701C>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788835	0.31685	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.52526	1.12;1.12;0.66	5.83	3.93	0.45458	.	0.355002	0.26213	N	0.025665	T	0.43055	0.1230	L	0.59436	1.845	0.09310	N	1	B	0.31077	0.307	B	0.31946	0.138	T	0.27905	-1.0060	9	.	.	.	-7.4775	10.8434	0.46728	0.1361:0.4684:0.3955:0.0	.	901	Q8IXT1	NOXIN_HUMAN	T	901;901;600	ENSP00000414687:P901T;ENSP00000435421:P901T;ENSP00000329930:P600T	.	P	+	1	0	C11orf82	82322729	0.081000	0.21417	0.988000	0.46212	0.893000	0.52053	1.386000	0.34419	0.786000	0.33708	-0.150000	0.13652	CCA		0.348	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			18	31	1	0	1.56452e-12	0.007413	2.50899e-12	18	31				
CHORDC1	26973	broad.mit.edu	37	11	89935706	89935706	+	Missense_Mutation	SNP	T	T	A	rs180930667		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:89935706T>A	ENST00000320585.6	-	11	1275	c.866A>T	c.(865-867)aAg>aTg	p.K289M	CHORDC1_ENST00000457199.2_Missense_Mutation_p.K270M|CHORDC1_ENST00000529987.1_Missense_Mutation_p.K101M|CHORDC1_ENST00000529726.1_Missense_Mutation_p.K101M	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	289	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ATAACTTCGCTTTACATCAAT	0.383																																							uc001pdg.2		NA																	0					0						c.(865-867)AAG>ATG		cysteine and histidine-rich domain-containing							67.0	59.0	62.0					11																	89935706		2200	4298	6498	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89935706T>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.866A>T	11.37:g.89935706T>A	ENSP00000319255:p.Lys289Met					CHORDC1_uc009yvz.2_Missense_Mutation_p.K270M	p.K289M	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			11	1276	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	289			Interaction with HSP90AA1 and HSP90AB1 (By similarity).|CS.		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.866A>T	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838778	0.71373	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.43	4.28	0.50868	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.158561	0.56097	D	0.000027	T	0.29158	0.0725	L	0.54323	1.7	0.80722	D	1	D;P	0.57571	0.98;0.708	P;P	0.57324	0.818;0.684	T	0.00972	-1.1495	9	.	.	.	-2.4602	11.2944	0.49269	0.0:0.0:0.1527:0.8473	.	270;289	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	M	289;101;270;101	ENSP00000319255:K289M;ENSP00000433719:K101M;ENSP00000401080:K270M;ENSP00000436632:K101M	.	K	-	2	0	CHORDC1	89575354	0.921000	0.31238	0.964000	0.40570	0.993000	0.82548	1.521000	0.35910	0.868000	0.35678	0.529000	0.55759	AAG		0.383	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		16	12	0	0	0	0.004007	0	16	12				
FAT3	120114	broad.mit.edu	37	11	92533544	92533545	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92533544_92533545CC>AA	ENST00000298047.6	+	9	7382_7383	c.7365_7366CC>AA	c.(7363-7368)aaCCat>aaAAat	p.2455_2456NH>KN	FAT3_ENST00000409404.2_Missense_Mutation_p.2455_2456NH>KN|FAT3_ENST00000525166.1_Missense_Mutation_p.2305_2306NH>KN			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2455	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTGTCCAACCATCGGAAGCA	0.49										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(7363-7368)AACCAT>AAAAAT		FAT tumor suppressor homolog 3																																				SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533544_92533545CC>AA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92533544_92533545delinsAA	ENSP00000298047:p.N2455_H2456delinsKN	TCGA Ovarian(4;0.039)					p.2455_2456NH>KN	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7382_7383	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2455_2456			Cadherin 22.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	DNP	ENST00000298047.6	37	c.7365_7366CC>AA																																																																																					0.490	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		34	33	0	0	0	0.004672	0	34	33				
FAT3	120114	broad.mit.edu	37	11	92577505	92577505	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92577505C>G	ENST00000298047.6	+	18	10989	c.10972C>G	c.(10972-10974)Cct>Gct	p.P3658A	FAT3_ENST00000409404.2_Missense_Mutation_p.P3658A|FAT3_ENST00000525166.1_Missense_Mutation_p.P3508A|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3658					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGTGTCCCCTGAGGACTT	0.572										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(10972-10974)CCT>GCT		FAT tumor suppressor homolog 3							66.0	70.0	69.0					11																	92577505		2130	4258	6388	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577505C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10972C>G	11.37:g.92577505C>G	ENSP00000298047:p.Pro3658Ala	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.P98A	p.P3658A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	10989	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3658			Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10972C>G		.	.	.	.	.	.	.	.	.	.	C	20.4	3.976463	0.74360	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08102	3.13;3.13;3.13	5.94	5.01	0.66863	.	.	.	.	.	T	0.22166	0.0534	L	0.45051	1.395	0.80722	D	1	D;P	0.89917	1.0;0.55	D;B	0.91635	0.999;0.241	T	0.01165	-1.1431	9	0.33141	T	0.24	.	16.9373	0.86206	0.0:0.8721:0.1279:0.0	.	3658;3658	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	A	3658;3658;3508	ENSP00000298047:P3658A;ENSP00000387040:P3658A;ENSP00000432586:P3508A	ENSP00000298047:P3658A	P	+	1	0	FAT3	92217153	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.998000	0.70653	1.458000	0.47871	0.561000	0.74099	CCT		0.572	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		25	55	0	0	0	0.003954	0	25	55				
FAT3	120114	broad.mit.edu	37	11	92577662	92577662	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92577662G>T	ENST00000298047.6	+	18	11146	c.11129G>T	c.(11128-11130)aGc>aTc	p.S3710I	FAT3_ENST00000409404.2_Missense_Mutation_p.S3710I|FAT3_ENST00000525166.1_Missense_Mutation_p.S3560I|FAT3_ENST00000533797.1_Missense_Mutation_p.S45I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3710					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGCACAGCAGCGAGTTCTAC	0.552										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(11128-11130)AGC>ATC		FAT tumor suppressor homolog 3							54.0	56.0	55.0					11																	92577662		2144	4253	6397	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577662G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11129G>T	11.37:g.92577662G>T	ENSP00000298047:p.Ser3710Ile	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.S150I	p.S3710I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	11146	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3710			Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11129G>T		.	.	.	.	.	.	.	.	.	.	G	13.94	2.386263	0.42308	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.97	5.06	0.68205	.	.	.	.	.	T	0.43743	0.1261	L	0.27053	0.805	0.80722	D	1	B;B	0.29627	0.122;0.252	B;B	0.32090	0.047;0.14	T	0.39901	-0.9591	9	0.51188	T	0.08	.	15.4967	0.75658	0.0661:0.0:0.9339:0.0	.	3710;3710	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	3710;3710;3560;45	ENSP00000298047:S3710I;ENSP00000387040:S3710I;ENSP00000432586:S3560I;ENSP00000436399:S45I	ENSP00000298047:S3710I	S	+	2	0	FAT3	92217310	1.000000	0.71417	0.938000	0.37757	0.764000	0.43329	5.551000	0.67274	1.545000	0.49373	-0.122000	0.15005	AGC		0.552	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	18	1	0	1.6384e-10	0.001984	2.54244e-10	6	18				
FAT3	120114	broad.mit.edu	37	11	92615986	92615986	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92615986T>A	ENST00000298047.6	+	23	12381	c.12364T>A	c.(12364-12366)Tgc>Agc	p.C4122S	FAT3_ENST00000409404.2_Missense_Mutation_p.C4122S|FAT3_ENST00000525166.1_Missense_Mutation_p.C3972S|FAT3_ENST00000533797.1_Missense_Mutation_p.C457S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4122	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCTTCCTCTGCAACTGCAC	0.627										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12364-12366)TGC>AGC		FAT tumor suppressor homolog 3							66.0	85.0	79.0					11																	92615986		2124	4221	6345	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92615986T>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12364T>A	11.37:g.92615986T>A	ENSP00000298047:p.Cys4122Ser	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.C562S	p.C4122S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12381	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4122			Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12364T>A		.	.	.	.	.	.	.	.	.	.	T	28.2	4.902179	0.92035	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.99766	-5.89;-5.89;-5.89;-6.69	5.37	5.37	0.77165	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99883	0.9944	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.986	D	0.96247	0.9180	9	0.87932	D	0	.	15.6571	0.77150	0.0:0.0:0.0:1.0	.	4122;4122	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	4122;4122;3972;457	ENSP00000298047:C4122S;ENSP00000387040:C4122S;ENSP00000432586:C3972S;ENSP00000436399:C457S	ENSP00000298047:C4122S	C	+	1	0	FAT3	92255634	1.000000	0.71417	0.944000	0.38274	0.989000	0.77384	7.900000	0.87376	2.155000	0.67459	0.533000	0.62120	TGC		0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	11	0	0	0	0.000602	0	5	11				
MTNR1B	4544	broad.mit.edu	37	11	92715175	92715175	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92715175C>A	ENST00000257068.2	+	2	792	c.786C>A	c.(784-786)atC>atA	p.I262I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	262					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCTTTGCCATCTGCTGGGCTC	0.557																																							uc001pdk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(784-786)ATC>ATA		melatonin receptor 1B	Ramelteon(DB00980)						166.0	140.0	149.0					11																	92715175		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715175C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.786C>A	11.37:g.92715175C>A							p.I262I	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	889	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	262			Helical; Name=6; (Potential).			Silent	SNP	ENST00000257068.2	37	c.786C>A	CCDS8290.1																																																																																				0.557	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			28	101	1	0	7.01153e-11	0.007291	1.09334e-10	28	101				
AMOTL1	154810	broad.mit.edu	37	11	94602564	94602564	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:94602564G>T	ENST00000433060.2	+	12	2831	c.2690G>T	c.(2689-2691)gGc>gTc	p.G897V	AMOTL1_ENST00000317829.8_Missense_Mutation_p.G847V|AMOTL1_ENST00000317837.9_Missense_Mutation_p.G484V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	897					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCAGCCGCGGCCGGCTGAGC	0.642																																							uc001pfb.2		NA																	0				ovary(1)|breast(1)	2						c.(2689-2691)GGC>GTC		angiomotin like 1							23.0	29.0	27.0					11																	94602564		2105	4230	6335	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602564G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2690G>T	11.37:g.94602564G>T	ENSP00000387739:p.Gly897Val					AMOTL1_uc001pfc.2_Missense_Mutation_p.G847V	p.G897V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			12	2860	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	897					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2690G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464114	0.84425	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.56444	1.99;0.46;1.96	5.48	5.48	0.80851	.	0.212263	0.41605	D	0.000841	T	0.55289	0.1911	L	0.60455	1.87	0.44908	D	0.997924	B;B	0.34200	0.441;0.181	B;B	0.36989	0.238;0.022	T	0.54430	-0.8295	10	0.40728	T	0.16	-12.1273	19.3608	0.94436	0.0:0.0:1.0:0.0	.	847;897	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	V	847;484;897	ENSP00000320968:G847V;ENSP00000323474:G484V;ENSP00000387739:G897V	ENSP00000320968:G847V	G	+	2	0	AMOTL1	94242212	0.995000	0.38212	0.760000	0.31359	0.864000	0.49448	6.283000	0.72646	2.590000	0.87494	0.561000	0.74099	GGC		0.642	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		9	3	1	0	0.000442599	0.006214	0.000570501	9	3				
ANGPTL5	253935	broad.mit.edu	37	11	101776570	101776570	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:101776570G>C	ENST00000334289.3	-	4	845	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	84						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATAGAATTTTGCAAATTTCCT	0.279																																							uc001pgl.2		NA																	0				ovary(1)	1						c.(250-252)CAA>GAA		angiopoietin-like 5 precursor							77.0	76.0	77.0					11																	101776570		2202	4295	6497	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101776570G>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.250C>G	11.37:g.101776570G>C	ENSP00000335255:p.Gln84Glu						p.Q84E	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	4	846	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	84					A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.250C>G	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844964	0.71603	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.58358	0.34;0.57	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.66939	2.045	0.48135	D	0.999596	D	0.69078	0.997	D	0.75020	0.985	T	0.64976	-0.6280	10	0.23302	T	0.38	.	18.5846	0.91183	0.0:0.0:1.0:0.0	.	84	Q86XS5	ANGL5_HUMAN	E	84	ENSP00000335255:Q84E;ENSP00000433562:Q84E	ENSP00000335255:Q84E	Q	-	1	0	ANGPTL5	101281780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.864000	0.62990	2.558000	0.86282	0.591000	0.81541	CAA		0.279	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		10	38	0	0	0	0.006214	0	10	38				
CASP1	834	broad.mit.edu	37	11	104897037	104897037	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:104897037G>T	ENST00000533400.1	-	9	1198	c.1163C>A	c.(1162-1164)aCc>aAc	p.T388N	CASP1_ENST00000415981.2_Missense_Mutation_p.T72N|CASP1_ENST00000393136.4_Missense_Mutation_p.T367N|CASP1_ENST00000534497.1_Missense_Mutation_p.T247N|CASP1_ENST00000527979.1_Missense_Mutation_p.T351N|CASP1_ENST00000598974.1_Missense_Mutation_p.T388N|CASP1_ENST00000526568.1_Missense_Mutation_p.T295N|CASP1_ENST00000593315.1_Missense_Mutation_p.T367N|CASP1_ENST00000446369.1_Missense_Mutation_p.T247N|CASP1_ENST00000594519.1_Missense_Mutation_p.T247N|CASP1_ENST00000353247.5_Missense_Mutation_p.T72N|CASP1_ENST00000436863.3_Missense_Mutation_p.T388N|CASP1_ENST00000525825.1_Missense_Mutation_p.T367N|CASP1_ENST00000531166.1_Missense_Mutation_p.T72N	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	388					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCTTTCAGTGGTGGGCATCTG	0.408																																					NSCLC(41;1246 1743 4934)	NSCLC(41;1246 1743 4934)	uc010rve.1		NA																	0				ovary(2)	2						c.(1162-1164)ACC>AAC		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						92.0	91.0	91.0					11																	104897037		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897037G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1163C>A	11.37:g.104897037G>T	ENSP00000433138:p.Thr388Asn					CASP1_uc001pig.2_Missense_Mutation_p.T295N|CASP1_uc001pik.2_Missense_Mutation_p.T351N|CASP1_uc010rvf.1_Missense_Mutation_p.T295N|CASP1_uc010rvg.1_Missense_Mutation_p.T367N|CASP1_uc010rvh.1_Missense_Mutation_p.T247N|CASP1_uc010rvi.1_Missense_Mutation_p.T72N|CASP1_uc001pim.3_Missense_Mutation_p.T388N|CASP1_uc009yxi.2_Missense_Mutation_p.T367N|CASP1_uc010rvj.1_Missense_Mutation_p.T388N	p.T388N	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	9	1180	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	388					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1163C>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.295040	0.40594	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.44881	2.11;2.11;2.11;2.11;2.11;0.91;2.11;2.11;2.11;2.11;0.91	4.2	4.2	0.49525	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.111571	0.64402	D	0.000013	T	0.67674	0.2918	M	0.87180	2.865	0.43977	D	0.996662	D;D;D;D;D;D	0.76494	0.992;0.997;0.999;0.999;0.999;0.999	P;P;D;D;D;D	0.79108	0.813;0.884;0.98;0.992;0.98;0.981	T	0.74191	-0.3745	10	0.62326	D	0.03	.	14.4387	0.67301	0.0:0.0:1.0:0.0	.	72;247;367;388;351;295	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	N	295;351;388;388;72;247;72;367;367;72;247	ENSP00000434250:T295N;ENSP00000432340:T351N;ENSP00000433138:T388N;ENSP00000410076:T388N;ENSP00000408446:T72N;ENSP00000403260:T247N;ENSP00000344132:T72N;ENSP00000376844:T367N;ENSP00000434779:T367N;ENSP00000434303:T72N;ENSP00000436875:T247N	ENSP00000344132:T72N	T	-	2	0	CASP1	104402247	1.000000	0.71417	0.869000	0.34112	0.099000	0.18886	4.375000	0.59549	2.322000	0.78497	0.460000	0.39030	ACC		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		11	69	1	0	9.31168e-06	0.001855	1.26129e-05	11	69				
GRIA4	2893	broad.mit.edu	37	11	105789637	105789637	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:105789637T>A	ENST00000530497.1	+	10	1469	c.1469T>A	c.(1468-1470)gTt>gAt	p.V490D	GRIA4_ENST00000525187.1_Missense_Mutation_p.V490D|GRIA4_ENST00000282499.5_Missense_Mutation_p.V490D|GRIA4_ENST00000393127.2_Missense_Mutation_p.V490D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	490					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGAGAACTTGTTTATGGGGTA	0.353																																							uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1468-1470)GTT>GAT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						95.0	92.0	93.0					11																	105789637		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789637T>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1469T>A	11.37:g.105789637T>A	ENSP00000435775:p.Val490Asp					GRIA4_uc001piw.2_Missense_Mutation_p.V490D	p.V490D	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1915	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	490			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1469T>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625042	0.87560	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.46	5.46	0.80206	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000017	D	0.92469	0.7609	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.954;0.999	D	0.94399	0.7621	10	0.72032	D	0.01	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	490;490	P48058;G3V164	GRIA4_HUMAN;.	D	490	ENSP00000282499:V490D;ENSP00000376835:V490D;ENSP00000435775:V490D;ENSP00000432180:V490D	ENSP00000282499:V490D	V	+	2	0	GRIA4	105294847	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.195000	0.70347	0.528000	0.53228	GTT		0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			11	65	0	0	0	0.000978	0	11	65				
GUCY1A2	2977	broad.mit.edu	37	11	106810228	106810228	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:106810228A>G	ENST00000526355.2	-	4	1632	c.1164T>C	c.(1162-1164)atT>atC	p.I388I	GUCY1A2_ENST00000282249.2_Silent_p.I388I|GUCY1A2_ENST00000347596.2_Silent_p.I388I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	388					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GCTTGGTTCTAATCACAAACG	0.443																																							uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1162-1164)ATT>ATC		guanylate cyclase 1, soluble, alpha 2							89.0	93.0	92.0					11																	106810228		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810228A>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1164T>C	11.37:g.106810228A>G						GUCY1A2_uc010rvo.1_Silent_p.I388I|GUCY1A2_uc009yxn.1_Silent_p.I388I	p.I388I	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1554	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	388					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.1164T>C	CCDS8335.1																																																																																				0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			35	114	0	0	0	0.003755	0	35	114				
EXPH5	23086	broad.mit.edu	37	11	108412428	108412428	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:108412428C>G	ENST00000265843.4	-	2	341	c.231G>C	c.(229-231)atG>atC	p.M77I	EXPH5_ENST00000428840.1_Start_Codon_SNP_p.M1I|EXPH5_ENST00000525344.1_Missense_Mutation_p.M70I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	77					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTGTTTTAACATTTGGCTAA	0.338																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(229-231)ATG>ATC		exophilin 5 isoform a							123.0	119.0	120.0					11																	108412428		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108412428C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.231G>C	11.37:g.108412428C>G	ENSP00000265843:p.Met77Ile					EXPH5_uc010rwa.1_Missense_Mutation_p.M1I	p.M77I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	2	342	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	77					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.231G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252671	0.80135	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000525344;ENST00000526312;ENST00000531386	T;T;T;T;T	0.40225	4.42;3.93;4.42;3.82;1.04	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63260	-0.6677	10	0.51188	T	0.08	-14.4787	16.4508	0.83990	0.0:1.0:0.0:0.0	.	77	Q8NEV8	EXPH5_HUMAN	I	77;1;70;1;1	ENSP00000265843:M77I;ENSP00000391966:M1I;ENSP00000432546:M70I;ENSP00000432683:M1I;ENSP00000433909:M1I	ENSP00000265843:M77I	M	-	3	0	EXPH5	107917638	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.217000	0.51184	2.613000	0.88420	0.655000	0.94253	ATG		0.338	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		20	53	0	0	0	0.008871	0	20	53				
ARHGAP20	57569	broad.mit.edu	37	11	110561301	110561301	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:110561301C>G	ENST00000260283.4	-	3	441	c.157G>C	c.(157-159)Gat>Cat	p.D53H	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D30H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D17H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D27H|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D17H|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D27H	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	53					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGGCTTTATCCAGGATAAGA	0.398																																							uc001pkz.1		NA																	0				ovary(3)|kidney(2)	5						c.(157-159)GAT>CAT		Rho GTPase activating protein 20							128.0	109.0	115.0					11																	110561301		2201	4297	6498	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110561301C>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.157G>C	11.37:g.110561301C>G	ENSP00000260283:p.Asp53His					ARHGAP20_uc001pky.1_Missense_Mutation_p.D30H|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D17H|ARHGAP20_uc001pla.1_Missense_Mutation_p.D17H	p.D53H	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	3	442	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	53					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.157G>C	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266804	0.80469	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.09723	2.98;2.98;2.98;2.95;2.98;2.95	5.56	5.56	0.83823	.	0.373484	0.32258	N	0.006356	T	0.27594	0.0678	L	0.51422	1.61	0.35859	D	0.827388	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	T	0.06770	-1.0808	10	0.54805	T	0.06	.	15.0342	0.71731	0.0:1.0:0.0:0.0	.	53;30	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	H	53;27;30;17;27;17	ENSP00000260283:D53H;ENSP00000349660:D27H;ENSP00000432076:D30H;ENSP00000436319:D17H;ENSP00000436522:D27H;ENSP00000431399:D17H	ENSP00000260283:D53H	D	-	1	0	ARHGAP20	110066511	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.438000	0.52871	2.613000	0.88420	0.655000	0.94253	GAT		0.398	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		24	56	0	0	0	0.00278	0	24	56				
C11orf53	341032	broad.mit.edu	37	11	111156507	111156507	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:111156507C>A	ENST00000280325.4	+	4	586	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	147										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CATCGCCCAGCACAGGGGCTC	0.652																																							uc001plc.2		NA																	0					0						c.(439-441)CAC>AAC		hypothetical protein LOC341032							70.0	67.0	68.0					11																	111156507		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156507C>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.439C>A	11.37:g.111156507C>A	ENSP00000280325:p.His147Asn						p.H147N	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	586	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	147						Missense_Mutation	SNP	ENST00000280325.4	37	c.439C>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545741	0.45280	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.15	2.22	0.28083	.	0.433104	0.25741	N	0.028603	T	0.29945	0.0749	M	0.65975	2.015	0.26704	N	0.971115	P	0.47910	0.902	B	0.40864	0.342	T	0.17501	-1.0367	9	0.34782	T	0.22	-25.5036	3.8935	0.09128	0.0:0.5421:0.1835:0.2744	.	147	Q8IXP5	CK053_HUMAN	N	147	.	ENSP00000280325:H147N	H	+	1	0	C11orf53	110661717	0.854000	0.29725	0.965000	0.40720	0.835000	0.47333	2.333000	0.43912	0.558000	0.29135	0.561000	0.74099	CAC		0.652	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		16	61	1	0	0.00316338	0.003163	0.00398121	16	61				
ALG9	79796	broad.mit.edu	37	11	111709015	111709015	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:111709015C>A	ENST00000531154.1	-	11	1240	c.768G>T	c.(766-768)ctG>ctT	p.L256L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Silent_p.L249L	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	420					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGAGCCCAAACAGGAAGACAG	0.428																																							uc001pmb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1258-1260)CTG>CTT		asparagine-linked glycosylation 9 protein							85.0	87.0	87.0					11																	111709015		1981	4157	6138	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111709015C>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.768G>T	11.37:g.111709015C>A						ALG9_uc001ply.2_Silent_p.L249L|ALG9_uc001plz.2_Silent_p.L256L|ALG9_uc010rwm.1_Silent_p.L427L|ALG9_uc010rwn.1_Silent_p.L374L|ALG9_uc010rwo.1_Silent_p.L248L|ALG9_uc009yyh.1_Silent_p.L315L	p.L420L	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	12	1359	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	420			Helical; (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.1260G>T	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	8.283	0.816035	0.16607	.	.	ENSG00000086848	ENST00000532425	.	.	.	5.88	1.62	0.23740	.	.	.	.	.	T	0.61464	0.2349	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57636	-0.7777	4	.	.	.	-2.7493	12.1456	0.54022	0.0:0.2922:0.6271:0.0806	.	.	.	.	F	5	.	.	C	-	2	0	ALG9	111214225	0.998000	0.40836	1.000000	0.80357	0.821000	0.46438	0.480000	0.22244	0.347000	0.23924	0.655000	0.94253	TGT		0.428	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		22	19	1	0	1.28384e-07	0.001882	1.84865e-07	22	19				
TTC12	54970	broad.mit.edu	37	11	113234595	113234595	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113234595A>C	ENST00000529221.1	+	20	1867	c.1762A>C	c.(1762-1764)Atc>Ctc	p.I588L	TTC12_ENST00000393020.1_Missense_Mutation_p.I588L|TTC12_ENST00000483239.2_Missense_Mutation_p.I594L|TTC12_ENST00000314756.3_Missense_Mutation_p.I588L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	588										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GATACTAGCTATCTGCACGAA	0.383																																							uc001pnu.2		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1762-1764)ATC>CTC		tetratricopeptide repeat domain 12							129.0	120.0	123.0					11																	113234595		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113234595A>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1762A>C	11.37:g.113234595A>C	ENSP00000433757:p.Ile588Leu					TTC12_uc001pnv.2_Missense_Mutation_p.I594L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.I438L	p.I588L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	20	1867	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	588					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1762A>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	9.555	1.116930	0.20795	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.58	-9.84	0.00479	Armadillo-like helical (1);Armadillo-type fold (1);	1.572510	0.03602	N	0.233504	T	0.45175	0.1329	L	0.56769	1.78	0.18873	N	0.999985	B;B	0.21821	0.061;0.061	B;B	0.17979	0.02;0.02	T	0.44221	-0.9342	10	0.56958	D	0.05	-3.4513	17.9217	0.88967	0.7691:0.0:0.2309:0.0	.	588;588	A8K8G6;Q9H892	.;TTC12_HUMAN	L	588;588;588;594	ENSP00000433757:I588L;ENSP00000315160:I588L;ENSP00000376743:I588L;ENSP00000419652:I594L	ENSP00000315160:I588L	I	+	1	0	TTC12	112739805	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.324000	0.02690	-2.276000	0.00678	-0.408000	0.06270	ATC		0.383	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		14	34	0	0	0	0.004007	0	14	34				
USP28	57646	broad.mit.edu	37	11	113673938	113673938	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113673938C>A	ENST00000003302.4	-	23	2872	c.2804G>T	c.(2803-2805)gGg>gTg	p.G935V	USP28_ENST00000545540.1_Missense_Mutation_p.G778V|USP28_ENST00000260188.5_Missense_Mutation_p.G903V|USP28_ENST00000544967.1_Missense_Mutation_p.G611V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCGGCGGGGCCCCTTCATCAG	0.458																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2803-2805)GGG>GTG		ubiquitin specific protease 28							61.0	68.0	66.0					11																	113673938		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113673938C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2804G>T	11.37:g.113673938C>A	ENSP00000003302:p.Gly935Val					USP28_uc001pog.2_Missense_Mutation_p.G611V|USP28_uc010rwy.1_Missense_Mutation_p.G778V|USP28_uc001poi.2_Missense_Mutation_p.G258V	p.G935V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	2837	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	935					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2804G>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672549	0.88348	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.53423	1.16;1.19;0.62;1.2	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.996;0.997	T	0.68405	-0.5417	10	0.72032	D	0.01	-21.0282	19.1041	0.93285	0.0:1.0:0.0:0.0	.	778;935;611	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	V	935;903;611;778	ENSP00000003302:G935V;ENSP00000260188:G903V;ENSP00000442431:G611V;ENSP00000444991:G778V	ENSP00000003302:G935V	G	-	2	0	USP28	113179148	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.989000	0.76219	2.758000	0.94735	0.563000	0.77884	GGG		0.458	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			17	60	1	0	2.35188e-11	0.006122	3.72802e-11	17	60				
ZBTB16	7704	broad.mit.edu	37	11	113934619	113934619	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113934619C>A	ENST00000335953.4	+	2	977	c.597C>A	c.(595-597)acC>acA	p.T199T	ZBTB16_ENST00000392996.2_Silent_p.T199T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	199					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGAGTCCCACCAAGGCTGCAG	0.597																																							uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(595-597)ACC>ACA		promyelocytic leukemia zinc finger protein							44.0	48.0	46.0					11																	113934619		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934619C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.597C>A	11.37:g.113934619C>A						ZBTB16_uc001poo.1_Silent_p.T199T|ZBTB16_uc001poq.2_Silent_p.T199T	p.T199T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	861	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	199					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.597C>A	CCDS8367.1																																																																																				0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		15	40	1	0	3.27435e-08	0.00245	4.75773e-08	15	40				
NXPE4	54827	broad.mit.edu	37	11	114453455	114453455	+	Missense_Mutation	SNP	G	G	A	rs111330181		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:114453455G>A	ENST00000375478.3	-	3	565	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	129						extracellular vesicular exosome (GO:0070062)											TGCTTCCTGCGTCCCAAGTGG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22557	0.0		0.0	False		,,,				2504	0.0						uc001ppc.2		NA																	0				ovary(2)|skin(2)	4						c.(385-387)CGC>TGC		hypothetical protein LOC54827 isoform 1		G	CYS/ARG,	0,4390		0,0,2195	109.0	110.0	110.0		385,	3.1	0.0	11	dbSNP_132	110	3,8581		0,3,4289	yes	missense,intron	FAM55D	NM_001077639.1,NM_017678.2	180,	0,3,6484	AA,AG,GG		0.0349,0.0,0.0231	benign,	129/545,	114453455	3,12971	2195	4292	6487	SO:0001583	missense	54827					extracellular region		g.chr11:114453455G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.385C>T	11.37:g.114453455G>A	ENSP00000364627:p.Arg129Cys					FAM55D_uc001ppd.2_Intron	p.R129C	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	566	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	129					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.385C>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	3.731	-0.055544	0.07362	0.0	3.49E-4	ENSG00000137634	ENST00000375478	T	0.14516	2.5	5.01	3.12	0.35913	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.043540	0.07504	N	0.907792	T	0.23249	0.0562	M	0.89840	3.065	0.09310	N	1	B	0.29481	0.245	B	0.27715	0.082	T	0.35076	-0.9803	10	0.54805	T	0.06	.	4.665	0.12660	0.1645:0.0:0.5301:0.3054	.	129	Q6UWF7	FA55D_HUMAN	C	129	ENSP00000364627:R129C	ENSP00000364627:R129C	R	-	1	0	FAM55D	113958665	0.005000	0.15991	0.007000	0.13788	0.003000	0.03518	1.457000	0.35212	0.607000	0.29982	-0.229000	0.12294	CGC		0.587	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		15	35	0	0	0	0.004007	0	15	35				
AMICA1	120425	broad.mit.edu	37	11	118081387	118081387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:118081387G>A	ENST00000356289.5	-	4	412	c.239C>T	c.(238-240)cCt>cTt	p.P80L	AMICA1_ENST00000526620.1_Missense_Mutation_p.P41L|AMICA1_ENST00000533261.1_Missense_Mutation_p.P80L|AMICA1_ENST00000292067.7_Missense_Mutation_p.P70L	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	80	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCGCCCAATAGGCACACTGAG	0.507																																							uc001psk.2		NA																	0				ovary(1)	1						c.(238-240)CCT>CTT		adhesion molecule, interacts with CXADR antigen							129.0	120.0	123.0					11																	118081387		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118081387G>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.239C>T	11.37:g.118081387G>A	ENSP00000348635:p.Pro80Leu					AMICA1_uc001psh.2_Missense_Mutation_p.P41L|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.P70L|AMICA1_uc001psj.2_Missense_Mutation_p.P80L|AMICA1_uc010rxw.1_Missense_Mutation_p.P41L|AMICA1_uc010rxx.1_Missense_Mutation_p.P80L|AMICA1_uc001psl.1_Missense_Mutation_p.P36L	p.P80L	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	4	413	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	80			Ig-like V-type 1.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.239C>T	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848466	0.51164	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.14	5.14	0.70334	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129094	0.36268	N	0.002683	T	0.77075	0.4077	M	0.77820	2.39	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.80764	0.944;0.994;0.944;0.944;0.907	T	0.73817	-0.3863	10	0.24483	T	0.36	-11.1925	13.9841	0.64324	0.0:0.0:1.0:0.0	.	80;41;80;80;70	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	L	80;70;80;41;41;41;80	ENSP00000348635:P80L;ENSP00000292067:P70L;ENSP00000436117:P80L;ENSP00000431218:P41L;ENSP00000432769:P41L;ENSP00000431791:P80L	ENSP00000292067:P70L	P	-	2	0	AMICA1	117586597	1.000000	0.71417	0.957000	0.39632	0.034000	0.12701	4.816000	0.62642	2.669000	0.90835	0.655000	0.94253	CCT		0.507	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		64	48	0	0	0	0.00361	0	64	48				
TMEM136	219902	broad.mit.edu	37	11	120198194	120198194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:120198194G>T	ENST00000375095.2	+	2	285	c.44G>T	c.(43-45)gGc>gTc	p.G15V	TMEM136_ENST00000314475.2_Missense_Mutation_p.G37V|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000529187.1_Missense_Mutation_p.G37V	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	15						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AGCCTGTGTGGCTGGCTCTCG	0.498																																							uc001pxh.1		NA																	0				ovary(1)	1						c.(43-45)GGC>GTC		transmembrane protein 136							152.0	138.0	143.0					11																	120198194		2203	4299	6502	SO:0001583	missense	219902					integral to membrane		g.chr11:120198194G>T	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.44G>T	11.37:g.120198194G>T	ENSP00000364236:p.Gly15Val					TMEM136_uc001pxg.2_Missense_Mutation_p.G37V|TMEM136_uc010rzm.1_Missense_Mutation_p.G15V|TMEM136_uc001pxj.2_Missense_Mutation_p.G37V|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_Intron	p.G15V	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	2	107	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	15			Helical; (Potential).		B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	c.44G>T	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207854	0.79240	.	.	ENSG00000181264	ENST00000375095;ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	0.265595	0.43260	D	0.000598	T	0.43411	0.1246	N	0.24115	0.695	0.58432	D	0.999999	P;B;P;P	0.52316	0.884;0.228;0.483;0.952	B;B;B;P	0.46543	0.422;0.121;0.084;0.52	T	0.18777	-1.0326	9	0.17369	T	0.5	-22.3766	15.0745	0.72066	0.0:0.2501:0.7498:0.0	.	15;37;15;37	Q6ZRR5-2;Q6ZRR5-3;Q6ZRR5;Q6ZRR5-4	.;.;TM136_HUMAN;.	V	15;37;37	.	ENSP00000312672:G37V	G	+	2	0	TMEM136	119703404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.781000	0.47750	2.629000	0.89072	0.655000	0.94253	GGC		0.498	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		23	36	1	0	3.62473e-10	0.001882	5.59761e-10	23	36				
TECTA	7007	broad.mit.edu	37	11	120989334	120989334	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:120989334C>T	ENST00000392793.1	+	7	1381	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	TECTA_ENST00000264037.2_Silent_p.R370R			O75443	TECTA_HUMAN	tectorin alpha	370	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGAACACCGCAGAGGTTCAG	0.542																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(1108-1110)CGC>CGT		tectorin alpha precursor							95.0	94.0	94.0					11																	120989334		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989334C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1110C>T	11.37:g.120989334C>T							p.R370R	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	1110	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	370			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1110C>T	CCDS8434.1																																																																																				0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		32	82	0	0	0	0.002096	0	32	82				
TECTA	7007	broad.mit.edu	37	11	121038900	121038900	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:121038900G>T	ENST00000392793.1	+	19	5995	c.5724G>T	c.(5722-5724)ttG>ttT	p.L1908F	TECTA_ENST00000264037.2_Missense_Mutation_p.L1908F			O75443	TECTA_HUMAN	tectorin alpha	1908	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGATCTCCTTGGATTCTGTTG	0.443																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(5722-5724)TTG>TTT		tectorin alpha precursor							265.0	241.0	249.0					11																	121038900		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121038900G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5724G>T	11.37:g.121038900G>T	ENSP00000376543:p.Leu1908Phe						p.L1908F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	18	5724	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1908			ZP.			Missense_Mutation	SNP	ENST00000392793.1	37	c.5724G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976596	0.74360	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.83419	-1.72;-1.72	6.17	-2.78	0.05859	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000003	D	0.89993	0.6876	M	0.84511	2.7	0.43919	D	0.99656	D	0.76494	0.999	D	0.91635	0.999	D	0.89715	0.3915	10	0.72032	D	0.01	.	14.5046	0.67743	0.4267:0.0:0.5733:0.0	.	1908	O75443	TECTA_HUMAN	F	1908	ENSP00000376543:L1908F;ENSP00000264037:L1908F	ENSP00000264037:L1908F	L	+	3	2	TECTA	120544110	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	1.527000	0.35975	-0.398000	0.07679	0.655000	0.94253	TTG		0.443	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		44	111	1	0	4.75955e-12	0.00361	7.5695e-12	44	111				
SORL1	6653	broad.mit.edu	37	11	121477927	121477927	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:121477927G>T	ENST00000260197.7	+	37	5223	c.5094G>T	c.(5092-5094)tgG>tgT	p.W1698C	SORL1_ENST00000525532.1_Missense_Mutation_p.W642C|SORL1_ENST00000534286.1_Missense_Mutation_p.W608C|SORL1_ENST00000527934.1_Missense_Mutation_p.W313C|SORL1_ENST00000532694.1_Missense_Mutation_p.W544C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1698	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAAGATGTGGGCCTCCCAGA	0.448																																							uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(5092-5094)TGG>TGT		sortilin-related receptor containing LDLR class							77.0	74.0	75.0					11																	121477927		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121477927G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5094G>T	11.37:g.121477927G>T	ENSP00000260197:p.Trp1698Cys					SORL1_uc010rzp.1_Missense_Mutation_p.W544C|SORL1_uc010rzq.1_Missense_Mutation_p.W313C	p.W1698C	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	37	5174	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1698			Extracellular (Potential).|Fibronectin type-III 2.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5094G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119082	0.77323	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.77	5.77	0.91146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70981	-0.4724	10	0.52906	T	0.07	.	19.5934	0.95525	0.0:0.0:1.0:0.0	.	313;1698	E9PKB0;Q92673	.;SORL_HUMAN	C	1698;642;544;608;313	ENSP00000260197:W1698C;ENSP00000434634:W642C;ENSP00000432131:W544C;ENSP00000436447:W608C;ENSP00000435405:W313C	ENSP00000260197:W1698C	W	+	3	0	SORL1	120983137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.052000	0.89448	2.724000	0.93272	0.561000	0.74099	TGG		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		16	12	1	0	4.35082e-09	0.001523	6.52963e-09	16	12				
OR6T1	219874	broad.mit.edu	37	11	123813682	123813682	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:123813682G>A	ENST00000321252.2	-	1	898	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F288F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGTGAAGATGAATGGGTTCA	0.517																																							uc010sab.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(862-864)TTC>TTT		olfactory receptor, family 6, subfamily T,							261.0	227.0	238.0					11																	123813682		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813682G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.864C>T	11.37:g.123813682G>A							p.F288F	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	864	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	288			Helical; Name=7; (Potential).		Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.864C>T	CCDS31700.1																																																																																				0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		34	119	0	0	0	0.004878	0	34	119				
OR6T1	219874	broad.mit.edu	37	11	123813927	123813927	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:123813927A>C	ENST00000321252.2	-	1	653	c.619T>G	c.(619-621)Tta>Gta	p.L207V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGCCCAGTAACACCAACGTA	0.532																																							uc010sab.1		NA																	0				ovary(1)	1						c.(619-621)TTA>GTA		olfactory receptor, family 6, subfamily T,							78.0	72.0	74.0					11																	123813927		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813927A>C	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.619T>G	11.37:g.123813927A>C	ENSP00000325203:p.Leu207Val						p.L207V	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	619	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	207			Helical; Name=5; (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.619T>G	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	A	8.278	0.814856	0.16607	.	.	ENSG00000181499	ENST00000321252	T	0.37584	1.19	3.7	-1.68	0.08212	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24431	0.0592	N	0.11789	0.175	0.09310	N	1	P	0.38863	0.65	P	0.47786	0.557	T	0.25222	-1.0138	9	0.72032	D	0.01	-3.694	2.9916	0.05984	0.339:0.0:0.3262:0.3348	.	207	Q8NGN1	OR6T1_HUMAN	V	207	ENSP00000325203:L207V	ENSP00000325203:L207V	L	-	1	2	OR6T1	123319137	0.000000	0.05858	0.025000	0.17156	0.045000	0.14185	-0.429000	0.06982	-0.234000	0.09782	0.460000	0.39030	TTA		0.532	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		13	33	0	0	0	0.001368	0	13	33				
BARX2	8538	broad.mit.edu	37	11	129306860	129306860	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:129306860C>A	ENST00000281437.4	+	2	498	c.402C>A	c.(400-402)cgC>cgA	p.R134R	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	134					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGAAGCCCCGCCGGAGTCGCA	0.632																																							uc001qfc.3		NA																	0					0						c.(400-402)CGC>CGA		BarH-like homeobox 2							35.0	40.0	38.0					11																	129306860		2201	4297	6498	SO:0001819	synonymous_variant	8538							g.chr11:129306860C>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.402C>A	11.37:g.129306860C>A							p.R134R	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	2	452	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	134			Homeobox.		O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.402C>A	CCDS8481.1																																																																																				0.632	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		15	10	1	0	0.000422831	0.004007	0.000547227	15	10				
SLC6A13	6540	broad.mit.edu	37	12	369210	369210	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:369210G>C	ENST00000343164.4	-	2	61	c.9C>G	c.(7-9)agC>agG	p.S3R	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S3R|SLC6A13_ENST00000436453.1_Missense_Mutation_p.S3R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	3					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGAGACCCTGCTATCCATCC	0.512																																							uc001qic.1		NA																	0					0						c.(7-9)AGC>AGG		solute carrier family 6 (neurotransmitter							134.0	128.0	130.0					12																	369210		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:369210G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.9C>G	12.37:g.369210G>C	ENSP00000339260:p.Ser3Arg					SLC6A13_uc009zdj.1_Missense_Mutation_p.S3R|SLC6A13_uc010sdl.1_Missense_Mutation_p.S3R|SLC6A13_uc001qid.1_Missense_Mutation_p.S3R	p.S3R	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		2	62	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		3			Cytoplasmic (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.9C>G	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531767	0.27387	.	.	ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453	T;T;T;T	0.74002	-0.76;-0.8;0.06;0.39	5.94	4.03	0.46877	.	0.537875	0.20499	N	0.091130	T	0.52948	0.1766	N	0.14661	0.345	0.09310	N	1	B;P;B	0.47302	0.0;0.893;0.002	B;B;B	0.41619	0.001;0.361;0.002	T	0.42916	-0.9423	10	0.24483	T	0.36	.	6.5856	0.22618	0.0689:0.1301:0.6661:0.1349	.	3;3;3	B4DJL1;Q8WW56;Q9NSD5	.;.;S6A13_HUMAN	R	3	ENSP00000407104:S3R;ENSP00000339260:S3R;ENSP00000444606:S3R;ENSP00000389316:S3R	ENSP00000339260:S3R	S	-	3	2	SLC6A13	239471	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	4.288000	0.59007	2.816000	0.96949	0.563000	0.77884	AGC		0.512	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		30	141	0	0	0	0.008361	0	30	141				
CACNA1C	775	broad.mit.edu	37	12	2602428	2602428	+	Missense_Mutation	SNP	C	C	T	rs377345545		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:2602428C>T	ENST00000347598.4	+	7	989	c.989C>T	c.(988-990)aCg>aTg	p.T330M	CACNA1C_ENST00000406454.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T330M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T330M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T330M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	330					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAACGGCACGGTGTGCAAG	0.587																																							uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(988-990)ACG>ATG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						103.0	105.0	104.0					12																	2602428		2194	4288	6482	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602428C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.989C>T	12.37:g.2602428C>T	ENSP00000266376:p.Thr330Met					CACNA1C_uc009zdv.1_Missense_Mutation_p.T327M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T330M|CACNA1C_uc001qke.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T330M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T330M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T330M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T330M|CACNA1C_uc001qko.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T330M|CACNA1C_uc001qku.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T330M|CACNA1C_uc001qks.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T330M|CACNA1C_uc001qka.1_Translation_Start_Site|CACNA1C_uc001qki.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T66M	p.T330M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1302	+			330			I.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.989C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706974	0.68615	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96334	-3.9;-3.91;-3.95;-3.91;-3.9;-3.91;-3.93;-3.83;-3.87;-3.91;-3.84;-3.83;-3.92;-3.96;-3.84;-3.77;-3.98;-3.93;-3.9;-3.94;-3.86;-3.94;-3.97	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	L	0.28649	0.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.942;1.0;1.0;1.0;1.0;0.988;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.996;0.999;0.999;0.997;0.999;0.992;0.988;0.999;0.997;0.508;0.999;0.999;1.0;0.997;0.611;0.999;0.973;0.997;0.999;0.999;0.997;0.997	D	0.96527	0.9390	10	0.42905	T	0.14	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	330;327;330;330;330;330;330;330;330;330;330;301;330;330;330;330;330;330;330;330;330;330;330;330	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;171	ENSP00000336982:T330M;ENSP00000382563:T330M;ENSP00000437936:T330M;ENSP00000382552:T330M;ENSP00000382547:T330M;ENSP00000382506:T330M;ENSP00000382530:T330M;ENSP00000382546:T330M;ENSP00000382500:T330M;ENSP00000382549:T330M;ENSP00000266376:T330M;ENSP00000382515:T330M;ENSP00000382510:T330M;ENSP00000341092:T330M;ENSP00000382537:T330M;ENSP00000329877:T330M;ENSP00000382557:T330M;ENSP00000385724:T330M;ENSP00000382512:T330M;ENSP00000382542:T330M;ENSP00000382526:T330M;ENSP00000385896:T330M;ENSP00000382504:T330M	ENSP00000323129:T171M	T	+	2	0	CACNA1C	2472689	1.000000	0.71417	0.962000	0.40283	0.393000	0.30537	7.609000	0.82925	2.637000	0.89404	0.462000	0.41574	ACG		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		43	74	0	0	0	0.002222	0	43	74				
AKAP3	10566	broad.mit.edu	37	12	4736204	4736204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:4736204C>A	ENST00000545990.2	-	5	2388	c.1864G>T	c.(1864-1866)Gtt>Ttt	p.V622F	AKAP3_ENST00000228850.1_Missense_Mutation_p.V622F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	622					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTTCCTTAACTGGCTGTTCC	0.502																																							uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1864-1866)GTT>TTT		A-kinase anchor protein 3							61.0	59.0	60.0					12																	4736204		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736204C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1864G>T	12.37:g.4736204C>A	ENSP00000440994:p.Val622Phe						p.V622F	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	2093	-			622					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1864G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542406	0.00934	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07908	3.15;3.15	5.6	-2.25	0.06888	A-kinase anchor 110kDa, C-terminal (1);	2.364680	0.01282	N	0.009766	T	0.05640	0.0148	L	0.29908	0.895	0.09310	N	1	B	0.24186	0.099	B	0.25884	0.064	T	0.29336	-1.0015	10	0.11485	T	0.65	1.3066	1.9123	0.03290	0.1274:0.3125:0.1265:0.4336	.	622	O75969	AKAP3_HUMAN	F	622	ENSP00000228850:V622F;ENSP00000440994:V622F	ENSP00000228850:V622F	V	-	1	0	AKAP3	4606465	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.606000	0.00416	0.023000	0.15187	0.655000	0.94253	GTT		0.502	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		46	8	1	0	5.20006e-24	0.002852	1.00745e-23	46	8				
CD163L1	283316	broad.mit.edu	37	12	7559354	7559354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:7559354G>T	ENST00000313599.3	-	5	918	c.861C>A	c.(859-861)tgC>tgA	p.C287*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.C297*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.C287*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	287	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTATGGTGGCATACGGTCC	0.498																																							uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(859-861)TGC>TGA		scavenger receptor cysteine-rich type 1							293.0	235.0	255.0					12																	7559354		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559354G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.861C>A	12.37:g.7559354G>T	ENSP00000315945:p.Cys287*					CD163L1_uc010sge.1_Nonsense_Mutation_p.C297*	p.C287*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	887	-			287			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.861C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958491	0.53400	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.88	-3.77	0.04346	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.795	0.34874	0.3046:0.0:0.6954:0.0	.	.	.	.	X	287;297;287	.	ENSP00000315945:C287X	C	-	3	2	CD163L1	7450621	0.025000	0.19082	0.000000	0.03702	0.155000	0.21991	0.231000	0.17872	-1.176000	0.02747	-0.691000	0.03719	TGC		0.498	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		53	69	1	0	5.22555e-25	0.00361	1.02063e-24	53	69				
TAS2R42	353164	broad.mit.edu	37	12	11338969	11338969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:11338969G>T	ENST00000334266.1	-	1	574	c.575C>A	c.(574-576)cCc>cAc	p.P192H		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	192					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CAGAGAAAAGGGGATAAAACT	0.348																																					Melanoma(15;352 722 10077 19546 48810)	Melanoma(15;352 722 10077 19546 48810)	uc001qzr.1		NA																	0				ovary(1)	1						c.(574-576)CCC>CAC		taste receptor, type 2, member 42							45.0	48.0	47.0					12																	11338969		2193	4297	6490	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338969G>T	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.575C>A	12.37:g.11338969G>T	ENSP00000334050:p.Pro192His					PRB4_uc001qzf.1_Intron	p.P192H	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	575	-			192			Helical; Name=5; (Potential).		A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.575C>A	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720316	0.30503	.	.	ENSG00000186136	ENST00000334266	T	0.57273	0.41	3.34	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.74604	0.3738	M	0.93678	3.445	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64441	-0.6407	10	0.87932	D	0	.	6.8146	0.23822	0.1329:0.0:0.8671:0.0	.	192	Q7RTR8	T2R42_HUMAN	H	192	ENSP00000334050:P192H	ENSP00000334050:P192H	P	-	2	0	TAS2R42	11230236	0.165000	0.22948	0.006000	0.13384	0.001000	0.01503	0.427000	0.21379	0.786000	0.33708	-0.355000	0.07637	CCC		0.348	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		32	44	1	0	2.85442e-18	0.002096	5.23401e-18	32	44				
PTPRO	5800	broad.mit.edu	37	12	15637129	15637129	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:15637129G>T	ENST00000281171.4	+	2	627	c.297G>T	c.(295-297)gtG>gtT	p.V99V	PTPRO_ENST00000543886.1_Silent_p.V99V|PTPRO_ENST00000348962.2_Silent_p.V99V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTCTGGTAGTGGTAAATGGAA	0.383																																							uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(295-297)GTG>GTT		receptor-type protein tyrosine phosphatase O							91.0	90.0	90.0					12																	15637129		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15637129G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.297G>T	12.37:g.15637129G>T						PTPRO_uc001rcw.1_Silent_p.V99V|PTPRO_uc001rcu.1_Silent_p.V99V	p.V99V	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			2	471	+		Hepatocellular(102;0.244)	99			Fibronectin type-III 1.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.297G>T	CCDS8675.1																																																																																				0.383	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			18	7	1	0	9.16793e-09	0.00499	1.35262e-08	18	7				
CAPZA3	93661	broad.mit.edu	37	12	18891912	18891912	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:18891912A>T	ENST00000317658.3	+	1	868	c.710A>T	c.(709-711)cAa>cTa	p.Q237L	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	237					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AACAAATTTCAAGCTGCAGTC	0.428																																							uc001rdy.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(709-711)CAA>CTA		capping protein alpha 3							53.0	56.0	55.0					12																	18891912		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891912A>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.710A>T	12.37:g.18891912A>T	ENSP00000326238:p.Gln237Leu					PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.Q237L	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	868	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	237					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.710A>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263225	0.59431	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	4.63	0.57726	.	0.234209	0.36893	N	0.002352	T	0.62853	0.2462	L	0.49778	1.585	0.53688	D	0.999977	D	0.58268	0.982	P	0.54856	0.762	T	0.66889	-0.5809	9	0.87932	D	0	-17.0003	11.5331	0.50622	1.0:0.0:0.0:0.0	.	237	Q96KX2	CAZA3_HUMAN	L	237	.	ENSP00000326238:Q237L	Q	+	2	0	CAPZA3	18783179	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.478000	0.66806	1.955000	0.56771	0.379000	0.24179	CAA		0.428	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		20	50	0	0	0	0.008871	0	20	50				
GYS2	2998	broad.mit.edu	37	12	21695501	21695501	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:21695501G>T	ENST00000261195.2	-	13	1828	c.1574C>A	c.(1573-1575)cCc>cAc	p.P525H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	525					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						GGTCACACTGGGGATACCCAT	0.517																																					Colon(149;9 1820 3690 10544 50424)	Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(1573-1575)CCC>CAC		glycogen synthase 2							94.0	76.0	82.0					12																	21695501		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.chr12:21695501G>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.1574C>A	12.37:g.21695501G>T	ENSP00000261195:p.Pro525His						p.P525H	NM_021957	NP_068776	P54840	GYS2_HUMAN			13	1829	-			525					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1574C>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052531	0.93793	.	.	ENSG00000111713	ENST00000261195	D	0.84730	-1.89	5.34	5.34	0.76211	.	0.111410	0.64402	D	0.000006	D	0.93598	0.7956	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94145	0.7400	10	0.87932	D	0	-11.4087	19.2209	0.93796	0.0:0.0:1.0:0.0	.	525	P54840	GYS2_HUMAN	H	525	ENSP00000261195:P525H	ENSP00000261195:P525H	P	-	2	0	GYS2	21586768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.640000	0.98453	2.776000	0.95493	0.650000	0.86243	CCC		0.517	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		30	44	1	0	4.22769e-11	0.00632	6.63561e-11	30	44				
SOX5	6660	broad.mit.edu	37	12	23728774	23728774	+	Splice_Site	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:23728774T>A	ENST00000451604.2	-	10	1266		c.e10-2		SOX5_ENST00000396007.2_Splice_Site|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000546136.1_Splice_Site|SOX5_ENST00000309359.1_Splice_Site|SOX5_ENST00000545921.1_Splice_Site|SOX5_ENST00000537393.1_Splice_Site			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5						cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CACTTCATCCTGCAATGATCA	0.453																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.e10-1		SRY (sex determining region Y)-box 5 isoform a							110.0	110.0	110.0					12																	23728774		2203	4300	6503	SO:0001630	splice_region_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728774T>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1165-2A>T	12.37:g.23728774T>A						SOX5_uc001rfx.2_Splice_Site_p.D376_splice|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Splice_Site_p.D3_splice|SOX5_uc010siv.1_Splice_Site_p.D376_splice|SOX5_uc010siw.1_Splice_Site|SOX5_uc001rfz.1_Splice_Site_p.D341_splice	p.D389_splice	NM_006940	NP_008871	P35711	SOX5_HUMAN			10	1267	-								B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Splice_Site	SNP	ENST00000451604.2	37	c.1165_splice	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031746	0.75504	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3329	0.74229	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SOX5	23620041	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.157000	0.77461	2.096000	0.63516	0.402000	0.26972	.		0.453	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	Intron	14	43	0	0	0	0.00245	0	14	43				
OVCH1	341350	broad.mit.edu	37	12	29642559	29642559	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:29642559G>C	ENST00000318184.5	-	6	695	c.696C>G	c.(694-696)gcC>gcG	p.A232A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	232	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTACCTGGCAGGCGTCCATTC	0.493																																							uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(694-696)GCC>GCG		ovochymase 1 precursor							70.0	67.0	68.0					12																	29642559		1930	4113	6043	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29642559G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.696C>G	12.37:g.29642559G>C							p.A232A	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			6	696	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		232			Peptidase S1 1.			Silent	SNP	ENST00000318184.5	37	c.696C>G																																																																																					0.493	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	8	0	0	0	0.004482	0	8	8				
CNTN1	1272	broad.mit.edu	37	12	41323651	41323651	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:41323651G>T	ENST00000551295.2	+	7	667	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	CNTN1_ENST00000347616.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D173Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D184Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.D184Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	184	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TATCACAATGGATAAACGGCG	0.383																																							uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(550-552)GAT>TAT		contactin 1 isoform 1 precursor							107.0	106.0	106.0					12																	41323651		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323651G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.550G>T	12.37:g.41323651G>T	ENSP00000447006:p.Asp184Tyr					CNTN1_uc009zjy.1_Missense_Mutation_p.D184Y|CNTN1_uc001rmn.1_Missense_Mutation_p.D173Y|CNTN1_uc001rmo.2_Missense_Mutation_p.D184Y	p.D184Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			7	663	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	184			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.550G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546417	0.86022	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047852	0.85682	D	0.000000	D	0.91744	0.7389	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93812	0.7111	10	0.87932	D	0	.	19.0447	0.93015	0.0:0.0:1.0:0.0	.	184;173;184	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Y	184;184;184;184;184;173	ENSP00000448004:D184Y;ENSP00000447006:D184Y;ENSP00000448653:D184Y;ENSP00000325660:D184Y;ENSP00000353213:D184Y;ENSP00000261160:D173Y	ENSP00000325660:D184Y	D	+	1	0	CNTN1	39609918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.582000	0.87167	0.655000	0.94253	GAT		0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		29	82	1	0	4.87955e-14	0.005443	8.0542e-14	29	82				
ADAMTS20	80070	broad.mit.edu	37	12	43833464	43833464	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:43833464G>T	ENST00000389420.3	-	18	2553	c.2554C>A	c.(2554-2556)Ccc>Acc	p.P852T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P852T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P6T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	852	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTCCATAGGGGTCCCATGTG	0.433																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2554-2556)CCC>ACC		a disintegrin-like and metalloprotease with							118.0	100.0	106.0					12																	43833464		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833464G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2554C>A	12.37:g.43833464G>T	ENSP00000374071:p.Pro852Thr					ADAMTS20_uc001rno.1_Missense_Mutation_p.P6T|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P6T	p.P852T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	18	2554	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	852			TSP type-1 2.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2554C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361081	0.41801	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.25	4.35	0.52113	.	0.125161	0.36101	N	0.002796	T	0.69441	0.3111	L	0.51853	1.615	0.46458	D	0.999059	P;D	0.89917	0.885;1.0	B;D	0.87578	0.36;0.998	T	0.65994	-0.6033	10	0.21540	T	0.41	.	16.5756	0.84635	0.0:0.131:0.869:0.0	.	852;6	P59510;E9PBD5	ATS20_HUMAN;.	T	852;18;6;852;852	ENSP00000374071:P852T;ENSP00000447427:P18T;ENSP00000378911:P6T;ENSP00000448341:P852T	ENSP00000374068:P852T	P	-	1	0	ADAMTS20	42119731	1.000000	0.71417	0.256000	0.24389	0.485000	0.33311	2.505000	0.45424	1.513000	0.48852	0.655000	0.94253	CCC		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		37	62	1	0	2.40579e-17	0.00623	4.33676e-17	37	62				
PCED1B	91523	broad.mit.edu	37	12	47629611	47629611	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:47629611G>A	ENST00000546455.1	+	4	1496	c.765G>A	c.(763-765)gaG>gaA	p.E255E	PCED1B_ENST00000432328.1_Silent_p.E255E|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	255							hydrolase activity (GO:0016787)										GGGGTGTGGAGCTGCCCCACC	0.667																																							uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(763-765)GAG>GAA		hypothetical protein LOC91523							12.0	15.0	14.0					12																	47629611		2188	4282	6470	SO:0001819	synonymous_variant	91523						hydrolase activity	g.chr12:47629611G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.765G>A	12.37:g.47629611G>A						FAM113B_uc010slj.1_Silent_p.E135E|FAM113B_uc001rpq.2_Silent_p.E255E	p.E255E	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1496	+	Renal(347;0.138)|Lung SC(27;0.192)		255					Q96B20	Silent	SNP	ENST00000546455.1	37	c.765G>A	CCDS8752.1																																																																																				0.667	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		4	8	0	0	0	0.000248	0	4	8				
DNAJC22	79962	broad.mit.edu	37	12	49743390	49743390	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:49743390A>G	ENST00000549441.2	+	3	1939	c.735A>G	c.(733-735)ctA>ctG	p.L245L	DNAJC22_ENST00000395069.3_Silent_p.L245L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	245						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TCTGGAGGCTACTGATGGGGG	0.522																																							uc001rua.2		NA																	0				ovary(1)	1						c.(733-735)CTA>CTG		DnaJ (Hsp40) homolog, subfamily C, member 22							122.0	126.0	125.0					12																	49743390		2203	4300	6503	SO:0001819	synonymous_variant	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743390A>G	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.735A>G	12.37:g.49743390A>G						DNAJC22_uc001rub.2_Silent_p.L245L	p.L245L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			2	1136	+			245					B3KP54	Silent	SNP	ENST00000549441.2	37	c.735A>G	CCDS8785.1																																																																																				0.522	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		68	100	0	0	0	0.00361	0	68	100				
SCN8A	6334	broad.mit.edu	37	12	52159490	52159490	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:52159490C>A	ENST00000354534.6	+	16	2758	c.2580C>A	c.(2578-2580)acC>acA	p.T860T	SCN8A_ENST00000545061.1_Silent_p.T860T|SCN8A_ENST00000550891.1_Silent_p.T860T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	860					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)	CCTGGCCCACCCTGAACATGC	0.438																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(2578-2580)ACC>ACA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						43.0	42.0	43.0					12																	52159490		1955	4157	6112	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159490C>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.2580C>A	12.37:g.52159490C>A						SCN8A_uc010snl.1_Silent_p.T725T|SCN8A_uc001ryy.2_Silent_p.T725T	p.T860T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2758	+			860			Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.2580C>A	CCDS44891.1																																																																																				0.438	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		14	20	1	0	2.32078e-09	0.003163	3.51601e-09	14	20				
ACVR1B	91	broad.mit.edu	37	12	52370313	52370313	+	Silent	SNP	G	G	A	rs189613683	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:52370313G>A	ENST00000257963.4	+	3	611	c.534G>A	c.(532-534)acG>acA	p.T178T	ACVR1B_ENST00000542485.1_Silent_p.T126T|ACVR1B_ENST00000541224.1_Silent_p.T178T|ACVR1B_ENST00000426655.2_Silent_p.T178T|ACVR1B_ENST00000415850.2_Silent_p.T178T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	178	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AAGACAAGACGCTCCAGGATC	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19624	0.0		0.0	False		,,,				2504	0.0						uc001rzn.2		NA																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(532-534)ACG>ACA		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						173.0	153.0	160.0					12																	52370313		2203	4300	6503	SO:0001819	synonymous_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52370313G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.534G>A	12.37:g.52370313G>A						ACVR1B_uc001rzl.2_Silent_p.T178T|ACVR1B_uc001rzm.2_Silent_p.T178T|ACVR1B_uc010snn.1_Silent_p.T178T	p.T178T	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	3	576	+			178			Cytoplasmic (Potential).|GS.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	c.534G>A	CCDS8816.1																																																																																				0.488	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		56	82	0	0	0	0.00361	0	56	82				
KRT1	3848	broad.mit.edu	37	12	53070126	53070126	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:53070126T>G	ENST00000252244.3	-	7	1466	c.1408A>C	c.(1408-1410)Aac>Cac	p.N470H		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	470	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AGCTTTGTGTTCATCAGCTCC	0.592																																							uc001sau.1		NA																	0				ovary(1)|skin(1)	2						c.(1408-1410)AAC>CAC		keratin 1							97.0	75.0	83.0					12																	53070126		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53070126T>G	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1408A>C	12.37:g.53070126T>G	ENSP00000252244:p.Asn470His					KRT1_uc001sav.1_Missense_Mutation_p.N470H	p.N470H	NM_006121	NP_006112	P04264	K2C1_HUMAN			7	1467	-			470			Rod.|Coil 2.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1408A>C	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	t	17.58	3.424336	0.62733	.	.	ENSG00000167768	ENST00000252244	D	0.90563	-2.69	4.79	4.79	0.61399	Prefoldin (1);Filament (1);	.	.	.	.	D	0.95893	0.8663	M	0.94063	3.49	0.38789	D	0.954941	D	0.89917	1.0	D	0.91635	0.999	D	0.96794	0.9584	9	0.87932	D	0	.	9.2351	0.37461	0.0:0.082:0.0:0.918	.	470	P04264	K2C1_HUMAN	H	470	ENSP00000252244:N470H	ENSP00000252244:N470H	N	-	1	0	KRT1	51356393	1.000000	0.71417	0.947000	0.38551	0.604000	0.37047	5.108000	0.64609	1.932000	0.55993	0.379000	0.24179	AAC		0.592	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		10	52	0	0	0	0.006214	0	10	52				
ESPL1	9700	broad.mit.edu	37	12	53663153	53663153	+	Missense_Mutation	SNP	G	G	A	rs199588886		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:53663153G>A	ENST00000257934.4	+	3	518	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	ESPL1_ENST00000552462.1_Missense_Mutation_p.V143M	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	143					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTATGAGGCCGTGGCTCGGGG	0.622																																					Colon(53;1069 1201 2587 5382)	Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(427-429)GTG>ATG		separase							48.0	49.0	48.0					12																	53663153		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663153G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.427G>A	12.37:g.53663153G>A	ENSP00000257934:p.Val143Met					ESPL1_uc001scj.2_Translation_Start_Site	p.V143M	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			3	518	+			143						Missense_Mutation	SNP	ENST00000257934.4	37	c.427G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509372	0.44660	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.14893	2.47;2.47	4.89	2.07	0.26955	.	0.288191	0.29783	N	0.011219	T	0.28134	0.0694	M	0.70595	2.14	0.09310	N	1	D	0.71674	0.998	P	0.54401	0.751	T	0.05582	-1.0876	10	0.72032	D	0.01	.	7.9947	0.30261	0.3274:0.0:0.6726:0.0	.	143	Q14674	ESPL1_HUMAN	M	143	ENSP00000257934:V143M;ENSP00000449831:V143M	ENSP00000257934:V143M	V	+	1	0	ESPL1	51949420	0.989000	0.36119	0.458000	0.27068	0.573000	0.36030	2.380000	0.44327	0.773000	0.33404	-0.291000	0.09656	GTG		0.622	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		33	60	0	0	0	0.002836	0	33	60				
NCKAP1L	3071	broad.mit.edu	37	12	54928933	54928933	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:54928933T>A	ENST00000293373.6	+	27	2987	c.2908T>A	c.(2908-2910)Tgt>Agt	p.C970S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.C920S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	970					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGGTGTGGGCTGTGACATTGA	0.507																																							uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2908-2910)TGT>AGT		NCK-associated protein 1-like							126.0	108.0	114.0					12																	54928933		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54928933T>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2908T>A	12.37:g.54928933T>A	ENSP00000293373:p.Cys970Ser					NCKAP1L_uc010sox.1_Missense_Mutation_p.C512S|NCKAP1L_uc010soy.1_Missense_Mutation_p.C920S	p.C970S	NM_005337	NP_005328	P55160	NCKPL_HUMAN			27	2987	+			970					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2908T>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173515	0.78452	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32753	1.44;1.44	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.57536	1.79	0.54753	D	0.999988	D	0.62365	0.991	D	0.78314	0.991	T	0.31861	-0.9928	10	0.12766	T	0.61	-12.5244	13.0081	0.58717	0.0:0.0:0.0:1.0	.	970	P55160	NCKPL_HUMAN	S	970;920	ENSP00000293373:C970S;ENSP00000445596:C920S	ENSP00000293373:C970S	C	+	1	0	NCKAP1L	53215200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.240000	0.73641	0.533000	0.62120	TGT		0.507	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		32	52	0	0	0	0.004878	0	32	52				
LRP1	4035	broad.mit.edu	37	12	57573738	57573738	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57573738G>T	ENST00000243077.3	+	30	5606	c.5140G>T	c.(5140-5142)Ggg>Tgg	p.G1714W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1714					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTCTGCGTGGGTCAGTCTA	0.637																																							uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(5140-5142)GGG>TGG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						71.0	77.0	75.0					12																	57573738		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573738G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5141+1G>T	12.37:g.57573738G>T							p.G1714W	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	30	5606	+			1714			LDL-receptor class B 15.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5140G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632870	0.67015	.	.	ENSG00000123384	ENST00000243077	D	0.94758	-3.51	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.98191	0.9402	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99457	1.0942	10	0.87932	D	0	.	16.9423	0.86221	0.0:0.0:1.0:0.0	.	1714	Q07954	LRP1_HUMAN	W	1714	ENSP00000243077:G1714W	ENSP00000243077:G1714W	G	+	1	0	LRP1	55860005	1.000000	0.71417	0.988000	0.46212	0.302000	0.27658	9.622000	0.98378	2.518000	0.84900	0.655000	0.94253	GGG		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Missense_Mutation	49	76	1	0	1.86633e-21	0.00361	3.55122e-21	49	76				
KIF5A	3798	broad.mit.edu	37	12	57966495	57966495	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57966495G>A	ENST00000455537.2	+	15	1976	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	KIF5A_ENST00000286452.5_Missense_Mutation_p.G479R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	568					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTGGGCAACGGGGAGATTAA	0.547																																							uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(1702-1704)GGG>AGG		kinesin family member 5A							193.0	157.0	169.0					12																	57966495		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57966495G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1702G>A	12.37:g.57966495G>A	ENSP00000408979:p.Gly568Arg					KIF5A_uc010srr.1_Missense_Mutation_p.G479R	p.G568R	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			15	1910	+			568					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1702G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224965	0.22457	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85258	-1.96;-1.96	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	L	0.33485	1.01	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.005	T	0.72669	-0.4223	10	0.25751	T	0.34	.	18.4695	0.90767	0.0:0.0:1.0:0.0	.	479;568	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	568;479	ENSP00000408979:G568R;ENSP00000286452:G479R	ENSP00000286452:G479R	G	+	1	0	KIF5A	56252762	0.212000	0.23540	1.000000	0.80357	0.113000	0.19764	1.143000	0.31553	2.746000	0.94184	0.655000	0.94253	GGG		0.547	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		48	90	0	0	0	0.00361	0	48	90				
KIF5A	3798	broad.mit.edu	37	12	57970645	57970645	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57970645C>A	ENST00000455537.2	+	20	2574	c.2300C>A	c.(2299-2301)aCa>aAa	p.T767K	KIF5A_ENST00000286452.5_Splice_Site_p.T678K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	767					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGGAGCTGACGTGAGTGGCA	0.493																																							uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(2299-2301)ACA>AAA		kinesin family member 5A							84.0	73.0	77.0					12																	57970645		2203	4300	6503	SO:0001630	splice_region_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57970645C>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2300+1C>A	12.37:g.57970645C>A						KIF5A_uc010srr.1_Missense_Mutation_p.T678K	p.T767K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			20	2508	+			767					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2300C>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984634	0.53934	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.74106	-0.81;-0.81	4.4	4.4	0.53042	.	0.071969	0.56097	D	0.000033	T	0.70378	0.3217	L	0.54323	1.7	0.52501	D	0.999951	B;B	0.34290	0.447;0.447	B;B	0.37144	0.115;0.242	T	0.67035	-0.5772	10	0.17832	T	0.49	.	16.3187	0.82938	0.0:1.0:0.0:0.0	.	678;767	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	767;678	ENSP00000408979:T767K;ENSP00000286452:T678K	ENSP00000286452:T678K	T	+	2	0	KIF5A	56256912	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.180000	0.32005	2.467000	0.83353	0.561000	0.74099	ACA		0.493	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	Missense_Mutation	15	23	1	0	0.000308642	0.003163	0.000399983	15	23				
AGAP2	116986	broad.mit.edu	37	12	58124303	58124303	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:58124303C>G	ENST00000547588.1	-	12	2402	c.2403G>C	c.(2401-2403)cgG>cgC	p.R801R	AGAP2_ENST00000257897.3_Silent_p.R465R	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	801	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGCCAAATTCCGGTCTGGCT	0.572																																							uc001spq.2		NA																	0				central_nervous_system(3)|breast(2)	5						c.(2401-2403)CGG>CGC		centaurin, gamma 1 isoform PIKE-L							224.0	226.0	225.0					12																	58124303		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124303C>G	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2403G>C	12.37:g.58124303C>G						AGAP2_uc001spp.2_Silent_p.R800R|AGAP2_uc001spr.2_Silent_p.R465R	p.R801R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			12	2403	-			801			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.2403G>C	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752638	0.15778	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.72	3.83	0.44106	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56086	-0.8037	4	.	.	.	.	8.7713	0.34733	0.0:0.8972:0.0:0.1028	.	.	.	.	Q	665	.	.	E	-	1	0	AGAP2	56410570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.223000	0.32527	1.365000	0.46057	0.561000	0.74099	GAA		0.572	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		128	195	0	0	0	0.00361	0	128	195				
CYP27B1	1594	broad.mit.edu	37	12	58158323	58158323	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:58158323G>C	ENST00000228606.4	-	6	1183	c.974C>G	c.(973-975)aCg>aGg	p.T325R	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	325					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCAAGAGAGCGTGTTGGACAC	0.567																																							uc001spz.1		NA																	0				central_nervous_system(3)	3						c.(973-975)ACG>AGG		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						91.0	94.0	93.0					12																	58158323		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158323G>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.974C>G	12.37:g.58158323G>C	ENSP00000228606:p.Thr325Arg					CYP27B1_uc001sqa.1_Missense_Mutation_p.T90R|CYP27B1_uc001sqb.1_Missense_Mutation_p.H205Q|CYP27B1_uc001sqc.1_3'UTR	p.T325R	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		6	1126	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		325					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.974C>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470219	0.84533	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.76186	-1.0;-1.0	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89136	0.3513	10	0.87932	D	0	.	16.45	0.83977	0.0:0.0:1.0:0.0	.	325	O15528	CP27B_HUMAN	R	325;90	ENSP00000228606:T325R;ENSP00000449472:T90R	ENSP00000228606:T325R	T	-	2	0	CYP27B1	56444590	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	9.575000	0.98187	2.426000	0.82243	0.561000	0.74099	ACG		0.567	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		5	136	0	0	0	0.000602	0	5	136				
DPY19L2	283417	broad.mit.edu	37	12	64041112	64041112	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:64041112C>G	ENST00000324472.4	-	5	805	c.622G>C	c.(622-624)Gga>Cga	p.G208R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	208					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCATTATTCCCATGAATGTG	0.318																																							uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(622-624)GGA>CGA		dpy-19-like 2							67.0	71.0	70.0					12																	64041112		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041112C>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.622G>C	12.37:g.64041112C>G	ENSP00000315988:p.Gly208Arg					DPY19L2_uc009zqk.1_RNA	p.G208R	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	803	-			208			Helical; (Potential).		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.622G>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507090	0.27036	.	.	ENSG00000177990	ENST00000324472	T	0.54675	0.56	2.35	2.35	0.29111	.	0.498482	0.20589	U	0.089381	T	0.55465	0.1922	M	0.65975	2.015	0.80722	D	1	P	0.38395	0.629	P	0.47251	0.542	T	0.53892	-0.8374	9	.	.	.	.	8.2163	0.31514	0.0:1.0:0.0:0.0	.	208	Q6NUT2	D19L2_HUMAN	R	208	ENSP00000315988:G208R	.	G	-	1	0	DPY19L2	62327379	0.963000	0.33076	0.973000	0.42090	0.602000	0.36980	2.332000	0.43903	1.313000	0.45069	0.184000	0.17185	GGA		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		55	58	0	0	0	0.00361	0	55	58				
CAND1	55832	broad.mit.edu	37	12	67688923	67688923	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:67688923G>A	ENST00000545606.1	+	4	915	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	160					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TATTATGGCTGATATGTTGAG	0.343																																							uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(478-480)GAT>AAT		TIP120 protein							169.0	148.0	155.0					12																	67688923		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67688923G>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.478G>A	12.37:g.67688923G>A	ENSP00000442318:p.Asp160Asn						p.D160N	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	4	915	+			160			HEAT 4.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.478G>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345427	0.95807	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.35973	1.28	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	T	0.76011	-0.3115	9	.	.	.	-8.6858	19.1093	0.93310	0.0:0.0:1.0:0.0	.	160	Q86VP6	CAND1_HUMAN	N	160	ENSP00000442318:D160N	.	D	+	1	0	CAND1	65975190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.527000	0.85204	0.460000	0.39030	GAT		0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	55	0	0	0	0.001984	0	7	55				
PPP1R12A	4659	broad.mit.edu	37	12	80189444	80189444	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:80189444T>C	ENST00000450142.2	-	18	2823	c.2557A>G	c.(2557-2559)Aca>Gca	p.T853A	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T853A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T853A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T797A|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T766A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	853	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAACTCCTGTAGATCTTCTT	0.333																																							uc001syz.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2557-2559)ACA>GCA		protein phosphatase 1, regulatory (inhibitor)							320.0	301.0	306.0					12																	80189444		1824	4079	5903	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80189444T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2557A>G	12.37:g.80189444T>C	ENSP00000389168:p.Thr853Ala					PPP1R12A_uc010suc.1_Missense_Mutation_p.T766A|PPP1R12A_uc001sza.2_Missense_Mutation_p.T797A|PPP1R12A_uc010sud.1_Missense_Mutation_p.T853A|PPP1R12A_uc001szb.2_Missense_Mutation_p.T853A	p.T853A	NM_002480	NP_002471	O14974	MYPT1_HUMAN			18	2824	-			853			Interaction with ROCK2.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.2557A>G	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623813	0.87460	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	T;T;T;T;T	0.55930	0.49;0.49;0.59;0.54;0.58	5.64	5.64	0.86602	.	0.189057	0.56097	D	0.000034	T	0.71978	0.3404	M	0.77313	2.365	0.80722	D	1	D;B;D	0.61697	0.99;0.062;0.984	D;B;D	0.73380	0.98;0.046;0.956	T	0.71108	-0.4688	10	0.30854	T	0.27	.	15.8207	0.78638	0.0:0.0:0.0:1.0	.	853;797;853	O14974-2;O14974-3;O14974	.;.;MYPT1_HUMAN	A	853;853;853;797;794;853;853;766;797	ENSP00000261207:T853A;ENSP00000389168:T853A;ENSP00000416769:T853A;ENSP00000449514:T766A;ENSP00000446855:T797A	ENSP00000261207:T853A	T	-	1	0	PPP1R12A	78713575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.048000	0.76606	2.131000	0.65755	0.482000	0.46254	ACA		0.333	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		77	76	0	0	0	0.00361	0	77	76				
PPFIA2	8499	broad.mit.edu	37	12	81777829	81777829	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:81777829G>T	ENST00000549396.1	-	9	1117	c.957C>A	c.(955-957)aaC>aaA	p.N319K	PPFIA2_ENST00000549325.1_Missense_Mutation_p.N301K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.N245K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.N319K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.N319K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.N301K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.N319K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.N166K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.N220K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	319	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATACTTGGTGTTCATTTCTT	0.423																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(955-957)AAC>AAA		PTPRF interacting protein alpha 2							146.0	140.0	142.0					12																	81777829		1921	4131	6052	SO:0001583	missense	8499							g.chr12:81777829G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.957C>A	12.37:g.81777829G>T	ENSP00000450337:p.Asn319Lys					PPFIA2_uc010sue.1_Missense_Mutation_p.N219K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.N319K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			9	1118	-			245					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.957C>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611143|3.611143	0.66558|0.66558	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.78003|.	1.33;1.33;1.33;-1.14;1.33;1.33;1.33|.	5.88|5.88	2.95|2.95	0.34219|0.34219	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65217|0.65217	0.2670|0.2670	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.981|.	D;D|.	0.78314|.	0.991;0.954|.	T|T	0.63065|0.63065	-0.6720|-0.6720	10|5	0.54805|.	T|.	0.06|.	-21.8659|-21.8659	8.7995|8.7995	0.34901|0.34901	0.306:0.0:0.694:0.0|0.306:0.0:0.694:0.0	.|.	219;319|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	K|K	319;301;245;330;301;319;220;319|137	ENSP00000450337:N319K;ENSP00000450298:N301K;ENSP00000385093:N245K;ENSP00000327416:N301K;ENSP00000449338:N319K;ENSP00000388373:N220K;ENSP00000447868:N319K|.	ENSP00000327416:N301K|.	N|T	-|-	3|2	2|0	PPFIA2|PPFIA2	80301960|80301960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.184000|4.184000	0.58323|0.58323	0.752000|0.752000	0.32923|0.32923	0.650000|0.650000	0.86243|0.86243	AAC|ACA		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			11	18	1	0	2.80697e-09	0.000978	4.23919e-09	11	18				
TRPV4	59341	broad.mit.edu	37	12	110230574	110230574	+	Silent	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:110230574T>G	ENST00000418703.2	-	10	1801	c.1707A>C	c.(1705-1707)gcA>gcC	p.A569A	TRPV4_ENST00000541794.1_Silent_p.A522A|TRPV4_ENST00000544971.1_Silent_p.A462A|TRPV4_ENST00000392719.2_Silent_p.A522A|TRPV4_ENST00000261740.2_Silent_p.A569A|TRPV4_ENST00000537083.1_Silent_p.A509A|TRPV4_ENST00000536838.1_Silent_p.A535A|TRPV4_ENST00000346520.2_Silent_p.A509A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	569					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTCGATCCCTGCCAGGTAGA	0.587																																							uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1705-1707)GCA>GCC		transient receptor potential cation channel,							73.0	59.0	64.0					12																	110230574		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230574T>G	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1707A>C	12.37:g.110230574T>G						TRPV4_uc001tpg.1_Silent_p.A535A|TRPV4_uc001tph.1_Silent_p.A522A|TRPV4_uc001tpi.1_Silent_p.A462A|TRPV4_uc001tpk.1_Silent_p.A569A|TRPV4_uc001tpl.1_Silent_p.A509A	p.A569A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			10	1802	-			569			Helical; (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1707A>C	CCDS9134.1																																																																																				0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		10	33	0	0	0	0.006214	0	10	33				
CUX2	23316	broad.mit.edu	37	12	111748231	111748231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:111748231G>T	ENST00000261726.6	+	15	1799	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	549					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCGGGGCAGAGGAGGAGCA	0.711																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1645-1647)GAG>TAG		cut-like 2							21.0	25.0	24.0					12																	111748231		2038	4182	6220	SO:0001587	stop_gained	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748231G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1645G>T	12.37:g.111748231G>T	ENSP00000261726:p.Glu549*						p.E549*	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	1798	+			549			CUT 1.		A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	c.1645G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	37	6.509295	0.97624	.	.	ENSG00000111249	ENST00000261726	.	.	.	4.88	4.88	0.63580	.	0.048996	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-28.9606	18.0114	0.89225	0.0:0.0:1.0:0.0	.	.	.	.	X	549	.	ENSP00000261726:E549X	E	+	1	0	CUX2	110232614	1.000000	0.71417	0.921000	0.36526	0.495000	0.33615	8.250000	0.89835	2.255000	0.74692	0.313000	0.20887	GAG		0.711	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	8	1	0	7.48243e-07	0.006214	1.05369e-06	8	8				
PTPN11	5781	broad.mit.edu	37	12	112915664	112915664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:112915664G>T	ENST00000351677.2	+	9	1135	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PTPN11_ENST00000392597.1_Nonsense_Mutation_p.E313*	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	313	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTTCTAGCCTGAATTTGAAAC	0.378			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																														uc001ttx.2		NA		Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		0				haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(937-939)GAA>TAA		protein tyrosine phosphatase, non-receptor type							46.0	42.0	44.0					12																	112915664		2203	4300	6503	SO:0001587	stop_gained	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112915664G>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.937G>T	12.37:g.112915664G>T	ENSP00000340944:p.Glu313*					PTPN11_uc001ttw.1_Nonsense_Mutation_p.E313*	p.E313*	NM_002834	NP_002825	Q06124	PTN11_HUMAN			9	1317	+			313			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Nonsense_Mutation	SNP	ENST00000351677.2	37	c.937G>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	38	6.660465	0.97743	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	.	.	.	5.81	5.81	0.92471	.	0.049193	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000340944:E313X	E	+	1	0	PTPN11	111400047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.245000	0.78237	2.769000	0.95229	0.644000	0.83932	GAA		0.378	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			18	23	1	0	3.99206e-14	0.007413	6.63498e-14	18	23				
IQCD	115811	broad.mit.edu	37	12	113645859	113645859	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:113645859A>G	ENST00000416617.2	-	2	303	c.113T>C	c.(112-114)gTt>gCt	p.V38A	IQCD_ENST00000546692.1_Missense_Mutation_p.V38A|IQCD_ENST00000299732.2_Missense_Mutation_p.V38A			Q96DY2	IQCD_HUMAN	IQ motif containing D	38										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCTAGAGAGAACCAAGGGTTT	0.512																																							uc001tuv.1		NA																	0				ovary(1)	1						c.(112-114)GTT>GCT		IQ motif containing D							318.0	305.0	310.0					12																	113645859		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645859A>G	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.113T>C	12.37:g.113645859A>G	ENSP00000400669:p.Val38Ala					IQCD_uc001tuu.2_Missense_Mutation_p.V38A	p.V38A	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN			2	535	-			38					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.113T>C		.	.	.	.	.	.	.	.	.	.	A	10.33	1.319229	0.23994	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10573	2.86;2.86;2.86	4.58	-2.81	0.05805	.	0.805217	0.10740	N	0.639535	T	0.06826	0.0174	L	0.43152	1.355	0.09310	N	1	B;B	0.24721	0.11;0.017	B;B	0.21151	0.033;0.007	T	0.39563	-0.9608	10	0.27082	T	0.32	-13.0321	1.9198	0.03305	0.3248:0.1422:0.3792:0.1538	.	38;38	F8VZV9;Q96DY2-2	.;.	A	38	ENSP00000299732:V38A;ENSP00000400669:V38A;ENSP00000446623:V38A	ENSP00000299732:V38A	V	-	2	0	IQCD	112130242	0.000000	0.05858	0.023000	0.16930	0.243000	0.25628	-0.900000	0.04097	-0.256000	0.09473	0.460000	0.39030	GTT		0.512	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		67	143	0	0	0	0.00361	0	67	143				
NOS1	4842	broad.mit.edu	37	12	117768862	117768862	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:117768862T>C	ENST00000338101.4	-	1	17	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	NOS1_ENST00000344089.3_Missense_Mutation_p.M5V|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.M5V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACACCGAACATGTGATCCTCC	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(13-15)ATG>GTG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						73.0	71.0	72.0					12																	117768862		1970	4155	6125	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768862T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.13A>G	12.37:g.117768862T>C	ENSP00000337459:p.Met5Val						p.M5V	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	699	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		5			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.13A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.159571	0.00321	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.04758	5.12;3.56;5.12	4.71	-1.87	0.07737	.	0.709477	0.14466	N	0.317873	T	0.01661	0.0053	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	10	0.02654	T	1	-6.9301	13.3006	0.60324	0.0:0.702:0.0:0.298	.	5	P29475	NOS1_HUMAN	V	5	ENSP00000320758:M5V;ENSP00000339862:M5V;ENSP00000337459:M5V	ENSP00000320758:M5V	M	-	1	0	NOS1	116253245	0.612000	0.27000	0.002000	0.10522	0.319000	0.28217	0.979000	0.29500	-0.522000	0.06417	-0.450000	0.05554	ATG		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			32	69	0	0	0	0.005524	0	32	69				
CIT	11113	broad.mit.edu	37	12	120295395	120295395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:120295395C>A	ENST00000261833.7	-	4	398	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CIT_ENST00000392521.2_Nonsense_Mutation_p.E116*	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTTGCTTTCTCTCTTACCACC	0.473																																							uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(346-348)GAG>TAG		citron							206.0	202.0	204.0					12																	120295395		2203	4300	6503	SO:0001587	stop_gained	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120295395C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.346G>T	12.37:g.120295395C>A	ENSP00000261833:p.Glu116*					CIT_uc001txj.1_Nonsense_Mutation_p.E116*	p.E116*	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	4	399	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	116			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Nonsense_Mutation	SNP	ENST00000261833.7	37	c.346G>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	39	7.757467	0.98474	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;33	.	ENSP00000261833:E116X	E	-	1	0	CIT	118779778	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.559000	0.82265	2.793000	0.96121	0.591000	0.81541	GAG		0.473	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		55	156	1	0	2.22609e-26	0.00361	4.43829e-26	55	156				
WDR66	144406	broad.mit.edu	37	12	122395035	122395035	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:122395035T>C	ENST00000288912.4	+	11	2445	c.1591T>C	c.(1591-1593)Tct>Cct	p.S531P	WDR66_ENST00000397454.2_Missense_Mutation_p.S531P	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	531							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCACACCCTGTCTATTGTTAA	0.393																																					Esophageal Squamous(85;849 1794 49757 52143)	Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(1591-1593)TCT>CCT		WD repeat domain 66							121.0	114.0	116.0					12																	122395035		1869	4104	5973	SO:0001583	missense	144406						calcium ion binding	g.chr12:122395035T>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1591T>C	12.37:g.122395035T>C	ENSP00000288912:p.Ser531Pro						p.S531P	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	11	1733	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		531			WD 5.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1591T>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674087	0.29693	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.35236	1.32;1.32	5.4	0.0282	0.14158	WD40 repeat-like-containing domain (1);	0.332987	0.30890	N	0.008672	T	0.25419	0.0618	L	0.57536	1.79	0.24227	N	0.995414	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.45353	T	0.12	.	0.9197	0.01312	0.1745:0.1643:0.3582:0.303	.	531	Q8TBY9	WDR66_HUMAN	P	531	ENSP00000288912:S531P;ENSP00000380595:S531P	ENSP00000288912:S531P	S	+	1	0	WDR66	120879418	1.000000	0.71417	0.856000	0.33681	0.795000	0.44927	0.755000	0.26405	0.330000	0.23485	-0.414000	0.06135	TCT		0.393	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		46	34	0	0	0	0.00361	0	46	34				
LRRC43	254050	broad.mit.edu	37	12	122676103	122676103	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:122676103G>A	ENST00000339777.4	+	6	1106	c.1078G>A	c.(1078-1080)Gtc>Atc	p.V360I	LRRC43_ENST00000425921.1_Missense_Mutation_p.V175I	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	360	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCGGGCGTCCTGGCCGA	0.517											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009zxm.2		NA																	0					0						c.(1078-1080)GTC>ATC		leucine rich repeat containing 43 isoform 1							70.0	70.0	70.0					12																	122676103		1895	4111	6006	SO:0001583	missense	254050							g.chr12:122676103G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1078G>A	12.37:g.122676103G>A	ENSP00000344233:p.Val360Ile		OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1520	LRRC43_uc001ubw.3_Missense_Mutation_p.V175I|LRRC43_uc009zxn.2_Missense_Mutation_p.V121I	p.V360I	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	1103	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		360			Glu-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1078G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	9.354	1.066271	0.20067	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.58797	0.31;0.75	5.39	3.54	0.40534	.	0.403752	0.22838	N	0.055010	T	0.36248	0.0960	N	0.25485	0.75	0.09310	N	1	P	0.35107	0.484	B	0.23716	0.048	T	0.13872	-1.0493	9	.	.	.	-24.7734	9.1096	0.36718	0.0811:0.1455:0.7733:0.0	.	360	Q8N309	LRC43_HUMAN	I	360;231;175	ENSP00000344233:V360I;ENSP00000416628:V175I	.	V	+	1	0	LRRC43	121242056	0.002000	0.14202	0.007000	0.13788	0.006000	0.05464	1.082000	0.30803	1.289000	0.44618	-0.226000	0.12346	GTC		0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		19	47	0	0	0	0.00333	0	19	47				
TMEM132D	121256	broad.mit.edu	37	12	130184559	130184559	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:130184559C>A	ENST00000422113.2	-	2	1090	c.764G>T	c.(763-765)aGt>aTt	p.S255I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	255					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)		ATCGATGTCACTGTGGCCTGT	0.602																																							uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(763-765)AGT>ATT		transmembrane protein 132D precursor							100.0	87.0	92.0					12																	130184559		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184559C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.764G>T	12.37:g.130184559C>A	ENSP00000408581:p.Ser255Ile						p.S255I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1092	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	255			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.764G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025102	0.35701	.	.	ENSG00000151952	ENST00000422113	T	0.11712	2.75	5.46	-4.6	0.03390	.	0.991337	0.08204	N	0.981795	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.24882	0.113	B	0.21360	0.034	T	0.44682	-0.9312	9	.	.	.	-6.7579	12.3495	0.55141	0.0:0.5066:0.0:0.4934	.	255	Q14C87	T132D_HUMAN	I	255	ENSP00000408581:S255I	.	S	-	2	0	TMEM132D	128750512	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.148000	0.10219	-0.922000	0.03789	-0.312000	0.09012	AGT		0.602	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	56	1	0	0.000219431	0.00245	0.000285917	13	56				
GPR133	283383	broad.mit.edu	37	12	131456050	131456050	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:131456050A>G	ENST00000261654.5	+	4	794	c.235A>G	c.(235-237)Aag>Gag	p.K79E	GPR133_ENST00000535015.1_Missense_Mutation_p.K111E	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	79					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAAAGAGGAAAAGGGAGTCAC	0.463																																							uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(235-237)AAG>GAG		G protein-coupled receptor 133 precursor							101.0	83.0	89.0					12																	131456050		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131456050A>G	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.235A>G	12.37:g.131456050A>G	ENSP00000261654:p.Lys79Glu					GPR133_uc010tbm.1_Missense_Mutation_p.K111E	p.K79E	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	4	794	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		79			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.235A>G	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759645	0.49468	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	T;T;T	0.59906	1.0;0.23;0.99	4.53	4.53	0.55603	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.121828	0.53938	D	0.000047	T	0.53514	0.1801	M	0.63843	1.955	0.80722	D	1	P;P	0.43094	0.704;0.799	B;B	0.38500	0.275;0.255	T	0.61357	-0.7079	10	0.87932	D	0	.	11.6034	0.51017	1.0:0.0:0.0:0.0	.	111;79	B7ZLF7;Q6QNK2	.;GP133_HUMAN	E	79;79;111	ENSP00000261654:K79E;ENSP00000442501:K79E;ENSP00000444425:K111E	ENSP00000261654:K79E	K	+	1	0	GPR133	130022003	1.000000	0.71417	0.108000	0.21378	0.471000	0.32888	6.033000	0.70925	1.689000	0.51079	0.533000	0.62120	AAG		0.463	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		4	44	0	0	0	0.001168	0	4	44				
ZNF268	10795	broad.mit.edu	37	12	133779036	133779036	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:133779036G>T	ENST00000536435.2	+	6	1094	c.764G>T	c.(763-765)gGa>gTa	p.G255V	ZNF268_ENST00000228289.5_Missense_Mutation_p.G255V|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.G94V|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	255					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTGAATCTGGAAAAACCGTC	0.368																																							uc010tcf.1		NA																	0				ovary(1)	1						c.(763-765)GGA>GTA		zinc finger protein 268 isoform a							36.0	37.0	37.0					12																	133779036		1885	4114	5999	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779036G>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.764G>T	12.37:g.133779036G>T	ENSP00000444412:p.Gly255Val					ZNF268_uc010tbv.1_Missense_Mutation_p.G94V|ZNF268_uc010tbw.1_Missense_Mutation_p.G94V|ZNF268_uc010tbx.1_Missense_Mutation_p.G115V|ZNF268_uc010tby.1_Missense_Mutation_p.G94V|ZNF268_uc010tbz.1_Missense_Mutation_p.G94V|ZNF268_uc010tca.1_Missense_Mutation_p.G94V|ZNF268_uc010tcb.1_Missense_Mutation_p.G115V|ZNF268_uc010tcc.1_Missense_Mutation_p.G94V|ZNF268_uc010tcd.1_Missense_Mutation_p.G94V|ZNF268_uc010tce.1_Missense_Mutation_p.G94V|ZNF268_uc010tcg.1_Missense_Mutation_p.G94V|ZNF268_uc010tch.1_Missense_Mutation_p.G255V	p.G255V	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1094	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	255					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.764G>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632644	0.14322	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.09445	3.1;2.98	3.8	-0.867	0.10655	.	.	.	.	.	T	0.13884	0.0336	M	0.89414	3.03	0.38890	D	0.957091	B;B	0.20988	0.03;0.05	B;B	0.17433	0.013;0.018	T	0.03807	-1.1002	8	.	.	.	.	2.9778	0.05943	0.4049:0.0:0.4018:0.1933	.	255;94	Q14587;Q14587-2	ZN268_HUMAN;.	V	255;255;94;94	ENSP00000228289:G255V;ENSP00000445713:G94V	.	G	+	2	0	ZNF268	132289109	0.980000	0.34600	0.000000	0.03702	0.213000	0.24496	2.097000	0.41748	-0.288000	0.09051	-1.153000	0.01818	GGA		0.368	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		6	10	1	0	0.00198382	0.001984	0.00250656	6	10				
TUBA3C	7278	broad.mit.edu	37	13	19748237	19748237	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:19748237C>A	ENST00000400113.3	-	5	1223	c.1119G>T	c.(1117-1119)cgG>cgT	p.R373R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	373					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGCACACAGCCCGCTGCACCT	0.602																																							uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(1117-1119)CGG>CGT		tubulin, alpha 3c							73.0	67.0	69.0					13																	19748237		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748237C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1119G>T	13.37:g.19748237C>A							p.R373R	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1168	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	373					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.1119G>T	CCDS9284.1																																																																																				0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		55	11	1	0	4.1673e-28	0.00361	8.41357e-28	55	11				
WASF3	10810	broad.mit.edu	37	13	27256877	27256877	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:27256877G>T	ENST00000335327.5	+	9	1295	c.1117G>T	c.(1117-1119)Gca>Tca	p.A373S	WASF3_ENST00000361042.4_Missense_Mutation_p.A370S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	373					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCGTTCCCTGCATCAGCCAG	0.697																																							uc001uqv.2		NA																	0				pancreas(1)	1						c.(1117-1119)GCA>TCA		WAS protein family, member 3							116.0	103.0	107.0					13																	27256877		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256877G>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1117G>T	13.37:g.27256877G>T	ENSP00000335055:p.Ala373Ser					WASF3_uc001uqw.2_Missense_Mutation_p.A370S	p.A373S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1342	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	373					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1117G>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739613	0.03088	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.52754	0.65;0.65	5.34	-1.2	0.09554	.	0.614483	0.18104	N	0.151596	T	0.29355	0.0731	L	0.38531	1.155	0.09310	N	1	B;B	0.24483	0.104;0.008	B;B	0.19148	0.024;0.01	T	0.22312	-1.0220	10	0.15066	T	0.55	-6.4592	8.279	0.31889	0.3223:0.1069:0.5708:0.0	.	370;373	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	S	370;373	ENSP00000354325:A370S;ENSP00000335055:A373S	ENSP00000335055:A373S	A	+	1	0	WASF3	26154877	0.879000	0.30193	0.000000	0.03702	0.005000	0.04900	1.744000	0.38268	-0.206000	0.10203	-1.036000	0.02392	GCA		0.697	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			75	15	1	0	3.83446e-41	0.00361	8.17165e-41	75	15				
BRCA2	675	broad.mit.edu	37	13	32913428	32913428	+	Missense_Mutation	SNP	G	G	C	rs80359473|rs431825323		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:32913428G>C	ENST00000380152.3	+	11	5169	c.4936G>C	c.(4936-4938)Gaa>Caa	p.E1646Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1646Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1646	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTAGAAAAAGAAACAGCAAA	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CD043795	BRCA2	D	rs80359473	c.(4936-4938)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							34.0	36.0	35.0					13																	32913428		2202	4297	6499	SO:0001583	missense	675	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913428G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4936G>C	13.37:g.32913428G>C	ENSP00000369497:p.Glu1646Gln	TCGA Ovarian(8;0.087)					p.E1646Q	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5163	+		Lung SC(185;0.0262)	1646					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4936G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927439	0.34002	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00816	5.66;5.66	5.64	1.88	0.25563	.	0.614826	0.16929	N	0.193780	T	0.01454	0.0047	L	0.55481	1.735	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.51188	-0.8737	10	0.45353	T	0.12	.	10.4167	0.44327	0.282:0.0:0.718:0.0	.	1646	P51587	BRCA2_HUMAN	Q	1646	ENSP00000369497:E1646Q;ENSP00000439902:E1646Q	ENSP00000369497:E1646Q	E	+	1	0	BRCA2	31811428	0.000000	0.05858	0.013000	0.15412	0.996000	0.88848	0.212000	0.17497	0.406000	0.25560	0.655000	0.94253	GAA		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	38	0	0	0	0.004672	0	3	38				
TRPC4	7223	broad.mit.edu	37	13	38213192	38213192	+	Silent	SNP	G	G	T	rs116527482		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:38213192G>T	ENST00000379705.3	-	10	3053	c.2196C>A	c.(2194-2196)acC>acA	p.T732T	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Silent_p.T667T|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Silent_p.T737T|TRPC4_ENST00000379679.1_Silent_p.T559T|TRPC4_ENST00000358477.2_Silent_p.T732T|TRPC4_ENST00000338947.5_Silent_p.T559T|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	732	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.T732T(1)|p.T737T(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTTCTCTTCGGTCAGGCCTT	0.398																																							uc001uws.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(2194-2196)ACC>ACA		transient receptor potential cation channel,							251.0	240.0	244.0					13																	38213192		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38213192G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2196C>A	13.37:g.38213192G>T						TRPC4_uc010abv.2_Silent_p.T312T|TRPC4_uc001uwt.2_Silent_p.T732T|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.T559T|TRPC4_uc010abx.2_Silent_p.T737T|TRPC4_uc010aby.2_Silent_p.T667T	p.T732T	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	10	2431	-			732			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2196C>A	CCDS9365.1																																																																																				0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		100	33	1	0	3.52173e-36	0.00361	7.39023e-36	100	33				
FREM2	341640	broad.mit.edu	37	13	39263534	39263534	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:39263534G>T	ENST00000280481.7	+	1	2269	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	685					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAATCAGTCCGGGCTACAGCG	0.557																																							uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(2053-2055)GGG>TGG		FRAS1-related extracellular matrix protein 2							85.0	85.0	85.0					13																	39263534		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263534G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2053G>T	13.37:g.39263534G>T	ENSP00000280481:p.Gly685Trp						p.G685W	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2362	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	685			CSPG 4.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2053G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720711	0.48728	.	.	ENSG00000150893	ENST00000280481	T	0.26957	1.7	5.97	4.26	0.50523	.	0.048120	0.85682	D	0.000000	T	0.44767	0.1309	M	0.77820	2.39	0.80722	D	1	D	0.60160	0.987	P	0.55871	0.786	T	0.47209	-0.9135	10	0.66056	D	0.02	.	12.5224	0.56067	0.1338:0.0:0.8662:0.0	.	685	Q5SZK8	FREM2_HUMAN	W	685	ENSP00000280481:G685W	ENSP00000280481:G685W	G	+	1	0	FREM2	38161534	1.000000	0.71417	0.042000	0.18584	0.872000	0.50106	7.901000	0.87382	0.880000	0.35969	-0.136000	0.14681	GGG		0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		44	16	1	0	1.57945e-13	0.002852	2.58923e-13	44	16				
PCDH17	27253	broad.mit.edu	37	13	58240920	58240920	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:58240920C>A	ENST00000377918.3	+	3	2776	c.2750C>A	c.(2749-2751)gCa>gAa	p.A917E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	917					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTTAGGGAGGCACTCAAGATG	0.463																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2749-2751)GCA>GAA		protocadherin 17 precursor							104.0	92.0	96.0					13																	58240920		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58240920C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2750C>A	13.37:g.58240920C>A	ENSP00000367151:p.Ala917Glu					PCDH17_uc010aec.1_Missense_Mutation_p.A916E|PCDH17_uc001vhr.1_Missense_Mutation_p.A6E	p.A917E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	3	3642	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	917			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2750C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711232	0.68730	.	.	ENSG00000118946	ENST00000377918	T	0.52057	0.68	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.57911	-0.7729	9	.	.	.	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	917	O14917	PCD17_HUMAN	E	917	ENSP00000367151:A917E	.	A	+	2	0	PCDH17	57138921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.761000	0.94854	0.650000	0.86243	GCA		0.463	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		14	27	1	0	0.00244969	0.00245	0.00309113	14	27				
DIAPH3	81624	broad.mit.edu	37	13	60616906	60616906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:60616906C>A	ENST00000400324.4	-	5	764	c.544G>T	c.(544-546)Gag>Tag	p.E182*	DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E136*|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E171*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E182*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E112*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E182*|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	182	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATTTTCAGCTCATGAATGAAT	0.408																																							uc001vht.2		NA																	0				ovary(2)	2						c.(544-546)GAG>TAG		diaphanous homolog 3 isoform a							89.0	86.0	87.0					13																	60616906		1841	4090	5931	SO:0001587	stop_gained	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60616906C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.544G>T	13.37:g.60616906C>A	ENSP00000383178:p.Glu182*					DIAPH3_uc001vhw.1_Nonsense_Mutation_p.E171*|DIAPH3_uc010aed.1_Nonsense_Mutation_p.E136*|DIAPH3_uc010aee.1_Nonsense_Mutation_p.E112*|uc001vhx.2_RNA	p.E182*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	5	763	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	182			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Nonsense_Mutation	SNP	ENST00000400324.4	37	c.544G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	37	6.097680	0.97281	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	.	.	.	5.65	5.65	0.86999	.	0.054915	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.5044	0.90892	0.0:1.0:0.0:0.0	.	.	.	.	X	182;182;171;136;112;171;112;136;182;182	.	ENSP00000267215:E182X	E	-	1	0	DIAPH3	59514907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.895000	0.75660	2.665000	0.90641	0.585000	0.79938	GAG		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	34	1	0	7.48243e-07	0.006214	1.05369e-06	9	34				
POU4F1	5457	broad.mit.edu	37	13	79177363	79177363	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:79177363C>A	ENST00000377208.5	-	1	310	c.99G>T	c.(97-99)cgG>cgT	p.R33R	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	33					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCAGGCCCGCCGGATGGCCT	0.711																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2		NA																	0				ovary(1)	1						c.(97-99)CGG>CGT		POU domain, class 4, transcription factor 1							62.0	52.0	55.0					13																	79177363		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79177363C>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.99G>T	13.37:g.79177363C>A						uc001vku.1_Intron	p.R33R	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	1	333	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	33					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.99G>T	CCDS31996.1																																																																																				0.711	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			8	12	1	0	1.06961e-07	0.00308	1.54482e-07	8	12				
POU4F1	5457	broad.mit.edu	37	13	79177376	79177376	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:79177376G>A	ENST00000377208.5	-	1	297	c.86C>T	c.(85-87)tCc>tTc	p.S29F	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	29					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GATGGCCTCGGAGCTGGAGTG	0.711																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2		NA																	0				ovary(1)	1						c.(85-87)TCC>TTC		POU domain, class 4, transcription factor 1							98.0	79.0	85.0					13																	79177376		2203	4300	6503	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79177376G>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.86C>T	13.37:g.79177376G>A	ENSP00000366413:p.Ser29Phe					uc001vku.1_Intron	p.S29F	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	1	320	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	29					Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.86C>T	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082102	0.76528	.	.	ENSG00000152192	ENST00000377208	T	0.26660	1.72	5.12	3.35	0.38373	.	0.073354	0.56097	N	0.000023	T	0.22003	0.0530	L	0.43923	1.385	0.58432	D	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.04165	-1.0972	10	0.66056	D	0.02	.	10.4447	0.44486	0.0744:0.135:0.7907:0.0	.	29	Q01851	PO4F1_HUMAN	F	29	ENSP00000366413:S29F	ENSP00000366413:S29F	S	-	2	0	POU4F1	78075377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.214000	0.95140	0.638000	0.30545	0.655000	0.94253	TCC		0.711	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			14	14	0	0	0	0.003163	0	14	14				
TPP2	7174	broad.mit.edu	37	13	103249310	103249310	+	5'Flank	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:103249310G>T	ENST00000376065.4	+	0	0				TPP2_ENST00000376052.3_5'Flank	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCGGCCCGAGGCCGCACGGG	0.711																																							uc001vpi.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(-80--76)GAGGC>GATGC		tripeptidyl peptidase II																																				SO:0001631	upstream_gene_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103249310G>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305		13.37:g.103249310G>T	Exception_encountered							NM_003291	NP_003282	P29144	TPP2_HUMAN			1	25	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q5VZU8	Translation_Start_Site	SNP	ENST00000376065.4	37	c.-78G>T	CCDS9502.1																																																																																				0.711	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			6	3	1	0	3.59834e-05	0.001168	4.77951e-05	6	3				
TMCO3	55002	broad.mit.edu	37	13	114154387	114154387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:114154387G>A	ENST00000434316.2	+	4	1098	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TMCO3_ENST00000375391.1_Missense_Mutation_p.D247N|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	247						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CATGCTGATTGACTCCCAGAA	0.453																																							uc001vtu.3		NA																	0					0						c.(739-741)GAC>AAC		transmembrane and coiled-coil domains 3							129.0	125.0	126.0					13																	114154387		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114154387G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.739G>A	13.37:g.114154387G>A	ENSP00000389399:p.Asp247Asn					TMCO3_uc001vtt.3_Missense_Mutation_p.D247N	p.D247N	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		4	1100	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	247					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.739G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932702	0.92458	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.68181	-0.31	5.21	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	L	0.36672	1.1	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77723	-0.2481	10	0.87932	D	0	-15.2222	15.0878	0.72167	0.0:0.0:0.857:0.143	.	247;247	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	N	247	ENSP00000389399:D247N	ENSP00000364540:D247N	D	+	1	0	TMCO3	113202388	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	9.256000	0.95535	1.259000	0.44117	0.585000	0.79938	GAC		0.453	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		18	37	0	0	0	0.00499	0	18	37				
CHAMP1	283489	broad.mit.edu	37	13	115091622	115091622	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:115091622C>T	ENST00000361283.1	+	3	2614	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TAAATGTCCACGTTGTAATTT	0.363																																							uc010ahb.2		NA																	0				ovary(2)	2						c.(2305-2307)CGT>TGT		zinc finger protein 828							54.0	57.0	56.0					13																	115091622		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091622C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2305C>T	13.37:g.115091622C>T	ENSP00000354730:p.Arg769Cys					ZNF828_uc001vuv.2_Missense_Mutation_p.R769C|ZNF828_uc010tko.1_Missense_Mutation_p.R769C	p.R769C	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	2634	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	769			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.2305C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.138667	0.56936	.	.	ENSG00000198824	ENST00000361283	T	0.42900	0.96	5.81	4.94	0.65067	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000010	T	0.57301	0.2044	L	0.58101	1.795	0.49582	D	0.999806	D	0.76494	0.999	P	0.60886	0.88	T	0.57242	-0.7845	9	.	.	.	-7.5168	16.019	0.80468	0.1354:0.8645:0.0:0.0	.	769	Q96JM3	ZN828_HUMAN	C	769	ENSP00000354730:R769C	.	R	+	1	0	ZNF828	114109724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.313000	0.51935	1.394000	0.46624	0.655000	0.94253	CGT		0.363	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		28	22	0	0	0	0.004656	0	28	22				
OR4L1	122742	broad.mit.edu	37	14	20528618	20528618	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20528618A>T	ENST00000315683.1	+	1	415	c.415A>T	c.(415-417)Aag>Tag	p.K139*		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATGAGCCACAAGCTGCTAAA	0.423																																							uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(415-417)AAG>TAG		olfactory receptor, family 4, subfamily L,							131.0	123.0	126.0					14																	20528618		2203	4300	6503	SO:0001587	stop_gained	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528618A>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.415A>T	14.37:g.20528618A>T	ENSP00000319217:p.Lys139*						p.K139*	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	415	+	all_cancers(95;0.00108)		139			Cytoplasmic (Potential).		Q6IEZ5	Nonsense_Mutation	SNP	ENST00000315683.1	37	c.415A>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.082499	0.36758	.	.	ENSG00000176246	ENST00000315683	.	.	.	4.37	3.2	0.36748	.	0.356833	0.22294	N	0.061948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	9.4292	0.38599	0.8204:0.1796:0.0:0.0	.	.	.	.	X	139	.	ENSP00000319217:K139X	K	+	1	0	OR4L1	19598458	0.000000	0.05858	0.045000	0.18777	0.183000	0.23260	0.539000	0.23175	0.791000	0.33826	0.528000	0.53228	AAG		0.423	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			21	99	0	0	0	0.001523	0	21	99				
OR4N5	390437	broad.mit.edu	37	14	20612807	20612807	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20612807C>A	ENST00000333629.1	+	1	913	c.913C>A	c.(913-915)Cat>Aat	p.H305N	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GTTAAGTCAACATATGTTTTG	0.373																																							uc010tla.1		NA																	0				ovary(1)	1						c.(913-915)CAT>AAT		olfactory receptor, family 4, subfamily N,							54.0	54.0	54.0					14																	20612807		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612807C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.913C>A	14.37:g.20612807C>A	ENSP00000332110:p.His305Asn						p.H305N	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	913	+	all_cancers(95;0.00108)		305			Cytoplasmic (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.913C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457625	0.12342	.	.	ENSG00000184394	ENST00000333629	T	0.36699	1.24	3.32	-0.104	0.13605	.	0.684129	0.12758	N	0.441550	T	0.16257	0.0391	N	0.12961	0.28	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20042	-1.0287	10	0.24483	T	0.36	.	2.9665	0.05909	0.1987:0.372:0.0:0.4292	.	305	Q8IXE1	OR4N5_HUMAN	N	305	ENSP00000332110:H305N	ENSP00000332110:H305N	H	+	1	0	OR4N5	19682647	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.464000	0.06688	-0.027000	0.13873	-0.136000	0.14681	CAT		0.373	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			53	26	1	0	6.18754e-15	0.00361	1.0521e-14	53	26				
OR11H6	122748	broad.mit.edu	37	14	20692796	20692796	+	Missense_Mutation	SNP	C	C	T	rs541140880		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20692796C>T	ENST00000315519.2	+	1	1006	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418													c|||	1	0.000199681	0.0	0.0	5008	,	,		20467	0.0		0.0	False		,,,				2504	0.001						uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(928-930)CTT>TTT		olfactory receptor, family 11, subfamily H,							94.0	98.0	97.0					14																	20692796		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692796C>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.928C>T	14.37:g.20692796C>T	ENSP00000319071:p.Leu310Phe						p.L310F	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	928	+	all_cancers(95;0.00108)		310			Helical; Name=7; (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.928C>T	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339111	0.24253	.	.	ENSG00000176219	ENST00000315519	T	0.39787	1.06	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000305	T	0.45296	0.1335	M	0.74647	2.275	0.32616	N	0.523982	P	0.51653	0.947	P	0.44518	0.452	T	0.64711	-0.6343	10	0.66056	D	0.02	.	9.4393	0.38659	0.0:0.9056:0.0:0.0944	.	310	Q8NGC7	O11H6_HUMAN	F	310	ENSP00000319071:L310F	ENSP00000319071:L310F	L	+	1	0	OR11H6	19762636	0.100000	0.21855	0.950000	0.38849	0.135000	0.20990	0.528000	0.23002	2.648000	0.89879	0.471000	0.43371	CTT		0.418	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			102	40	0	0	0	0.00361	0	102	40				
RNASE11	122651	broad.mit.edu	37	14	21052362	21052362	+	Nonsense_Mutation	SNP	G	G	T	rs201611620		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:21052362G>T	ENST00000610205.1	-	3	455	c.272C>A	c.(271-273)tCg>tAg	p.S91*	RNASE11_ENST00000432835.2_Nonsense_Mutation_p.S91*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.S91*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.S91*|RNASE11_ENST00000553849.1_Nonsense_Mutation_p.S91*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.S91*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	91						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTCATTACCCGAACTGTTTCC	0.418																																							uc010ahv.2		NA																	0				ovary(3)	3						c.(271-273)TCG>TAG		ribonuclease, RNase A family, 11 (non-active)							170.0	158.0	162.0					14																	21052362		2203	4300	6503	SO:0001587	stop_gained	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052362G>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.272C>A	14.37:g.21052362G>T	ENSP00000476537:p.Ser91*					RNASE11_uc010ahx.2_Nonsense_Mutation_p.S91*|RNASE11_uc010ahw.2_Nonsense_Mutation_p.S91*|RNASE11_uc001vxs.2_Nonsense_Mutation_p.S91*	p.S91*	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	457	-	all_cancers(95;0.00238)	all_lung(585;0.235)	91						Nonsense_Mutation	SNP	ENST00000610205.1	37	c.272C>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889495	0.52014	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	.	.	.	3.94	0.407	0.16371	.	1.153810	0.06558	N	0.746153	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-11.6197	5.9296	0.19132	0.4584:0.0:0.5416:0.0	.	.	.	.	X	91	.	ENSP00000338288:S91X	S	-	2	0	RNASE11	20122202	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.013000	0.03645	0.066000	0.16515	0.511000	0.50034	TCG		0.418	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		123	61	1	0	2.79849e-55	0.00361	6.0856e-55	123	61				
RAB2B	84932	broad.mit.edu	37	14	21930549	21930549	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:21930549T>G	ENST00000397762.1	-	7	603	c.503A>C	c.(502-504)tAt>tCt	p.Y168S	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	168				Y -> H (in Ref. 1; AAN86142). {ECO:0000305}.	positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GATCTTCCTATATATTTCTTT	0.383																																					Melanoma(131;1007 1750 28652 34486 42672)	Melanoma(131;1007 1750 28652 34486 42672)	uc010tlt.1		NA																	0				ovary(1)	1						c.(502-504)TAT>TCT		RAB2B protein isoform 1							152.0	139.0	144.0					14																	21930549		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21930549T>G	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.503A>C	14.37:g.21930549T>G	ENSP00000380869:p.Tyr168Ser					RAB2B_uc010tls.1_Missense_Mutation_p.Y122S|RAB2B_uc001wax.2_Missense_Mutation_p.Y103S|RAB2B_uc010ain.2_Missense_Mutation_p.Y59S	p.Y168S	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	7	604	-	all_cancers(95;0.000858)		168	Y -> H (in Ref. 1; AAN86142).				B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.503A>C	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494639	0.85069	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	5.98	4.84	0.62591	.	0.110146	0.39687	N	0.001299	D	0.84552	0.5497	L	0.48935	1.535	0.80722	D	1	D;D;D	0.67145	0.967;0.996;0.969	D;D;P	0.66351	0.919;0.943;0.832	D	0.85140	0.0980	10	0.87932	D	0	.	11.1453	0.48426	0.0:0.0729:0.0:0.9271	.	168;122;103	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	S	168	ENSP00000380869:Y168S	ENSP00000302005:Y168S	Y	-	2	0	RAB2B	21000389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.322000	0.79097	1.090000	0.41315	0.460000	0.39030	TAT		0.383	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			36	86	0	0	0	0.007835	0	36	86				
PRMT5	10419	broad.mit.edu	37	14	23390185	23390185	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:23390185C>A	ENST00000324366.8	-	17	2065	c.1842G>T	c.(1840-1842)gaG>gaT	p.E614D	PRMT5_ENST00000553897.1_Missense_Mutation_p.E570D|RBM23_ENST00000399922.2_5'Flank|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|RBM23_ENST00000542016.2_5'Flank|RBM23_ENST00000346528.5_5'Flank|PRMT5_ENST00000538452.1_Missense_Mutation_p.E508D|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000359890.3_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E597D|PRMT5_ENST00000216350.8_Missense_Mutation_p.E553D|PRMT5-AS1_ENST00000590290.1_RNA|RBM23_ENST00000555209.1_5'Flank|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.E443D|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	614	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCACAGCCCACTCATACCACA	0.527																																							uc001whm.1		NA																	0				ovary(1)	1						c.(1840-1842)GAG>GAT		protein arginine methyltransferase 5 isoform a							163.0	130.0	141.0					14																	23390185		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23390185C>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1842G>T	14.37:g.23390185C>A	ENSP00000319169:p.Glu614Asp					RBM23_uc001whh.2_5'Flank|RBM23_uc001whg.2_5'Flank|RBM23_uc001whi.2_5'Flank|RBM23_uc010tne.1_5'Flank|RBM23_uc001whj.2_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.E597D|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.E508D|PRMT5_uc010tng.1_Missense_Mutation_p.E553D|PRMT5_uc010tnh.1_Missense_Mutation_p.E570D|PRMT5_uc001whn.1_Missense_Mutation_p.E443D	p.E614D	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	17	1933	-	all_cancers(95;2.76e-05)		614					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1842G>T	CCDS9579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.971072|3.971072	0.74246|0.74246	.|.	.|.	ENSG00000100462|ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897|ENST00000454731	T;T;T;T;T;T|.	0.23754|.	1.89;1.89;1.89;1.89;1.89;1.89|.	5.78|5.78	0.202|0.202	0.15190|0.15190	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84005|0.84005	0.5377|0.5377	H|H	0.96239|0.96239	3.79|3.79	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;0.998|.	D|D	0.85350|0.85350	0.1101|0.1101	10|5	0.52906|.	T|.	0.07|.	-20.202|-20.202	10.6859|10.6859	0.45843|0.45843	0.0:0.552:0.0:0.448|0.0:0.552:0.0:0.448	.|.	570;553;443;614;597|.	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91|.	.;.;.;ANM5_HUMAN;.|.	D|L	614;597;443;553;508;570|156	ENSP00000319169:E614D;ENSP00000380583:E597D;ENSP00000380582:E443D;ENSP00000216350:E553D;ENSP00000444915:E508D;ENSP00000452555:E570D|.	ENSP00000216350:E553D|.	E|V	-|-	3|1	2|0	PRMT5|PRMT5	22460025|22460025	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.213000|0.213000	0.17521|0.17521	0.094000|0.094000	0.17404|0.17404	0.455000|0.455000	0.32223|0.32223	GAG|GTG		0.527	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			17	56	1	0	9.16793e-09	0.00499	1.35262e-08	17	56				
CTSG	1511	broad.mit.edu	37	14	25042852	25042852	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:25042852G>T	ENST00000216336.2	-	5	795	c.759C>A	c.(757-759)acC>acA	p.T253T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	253					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTCACAGGGGGGTCTCCATCT	0.502																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(757-759)ACC>ACA		cathepsin G preproprotein							183.0	192.0	189.0					14																	25042852		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042852G>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.759C>A	14.37:g.25042852G>T							p.T253T	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	796	-			253					Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.759C>A	CCDS9631.1																																																																																				0.502	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		153	84	1	0	5.63807e-81	0.00361	1.24012e-80	153	84				
NOVA1	4857	broad.mit.edu	37	14	26917495	26917495	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:26917495A>G	ENST00000539517.2	-	5	1511	c.1194T>C	c.(1192-1194)taT>taC	p.Y398Y	NOVA1_ENST00000465357.2_Silent_p.Y374Y|NOVA1_ENST00000267422.7_Silent_p.Y276Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	401	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTCCAAAATATCCATTGG	0.517																																							uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1192-1194)TAT>TAC		neuro-oncological ventral antigen 1 isoform 1							48.0	50.0	49.0					14																	26917495		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917495A>G	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1194T>C	14.37:g.26917495A>G						NOVA1_uc001wpz.2_Silent_p.Y374Y|NOVA1_uc001wqa.2_Silent_p.Y276Y	p.Y398Y	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1512	-			401			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	37	c.1194T>C	CCDS32061.1																																																																																				0.517	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		11	44	0	0	0	0.000978	0	11	44				
CTAGE5	4253	broad.mit.edu	37	14	39790155	39790155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:39790155C>A	ENST00000280083.3	+	19	1881	c.1567C>A	c.(1567-1569)Cca>Aca	p.P523T	CTAGE5_ENST00000341502.5_Missense_Mutation_p.P523T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1058T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P511T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P528T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P494T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P494T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P494T|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P448T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P443T			O15320	CTGE5_HUMAN	CTAGE family, member 5	523	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGGTCCCTCACCATTGGGTTG	0.443																																							uc001wvg.3		NA																	0					0						c.(1567-1569)CCA>ACA		CTAGE family, member 5 isoform 1							127.0	132.0	131.0					14																	39790155		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39790155C>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1567C>A	14.37:g.39790155C>A	ENSP00000280083:p.Pro523Thr					CTAGE5_uc010tqe.1_Missense_Mutation_p.P485T|CTAGE5_uc001wuz.3_Missense_Mutation_p.P511T|CTAGE5_uc001wuy.3_Missense_Mutation_p.P443T|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.P494T|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.P448T|CTAGE5_uc001wvi.3_Missense_Mutation_p.P528T|CTAGE5_uc010amz.2_Missense_Mutation_p.P139T|CTAGE5_uc001wvj.3_Missense_Mutation_p.P494T	p.P523T	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	19	1903	+	Hepatocellular(127;0.213)		523			Pro-rich.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.1567C>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866348	0.71949	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.63	4.74	0.60224	.	.	.	.	.	T	0.59636	0.2208	M	0.69463	2.115	0.50813	D	0.999896	P;B;B;B	0.35139	0.486;0.222;0.222;0.222	B;B;B;B	0.41510	0.359;0.275;0.275;0.275	T	0.58335	-0.7654	8	.	.	.	.	12.2778	0.54747	0.0:0.9228:0.0:0.0772	.	485;528;523;511	F8W9E1;O15320-5;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	T	1058;511;443;485;494;523;528;523;448;494	ENSP00000452252:P1058T;ENSP00000343897:P511T;ENSP00000450869:P443T;ENSP00000379468:P494T;ENSP00000339286:P523T;ENSP00000379462:P528T;ENSP00000280083:P523T;ENSP00000452562:P448T;ENSP00000450449:P494T	.	P	+	1	0	CTAGE5;RP11-407N17.3	38859906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.352000	0.59404	2.652000	0.90054	0.655000	0.94253	CCA		0.443	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		24	106	1	0	5.61819e-17	0.005443	1.00146e-16	24	106				
MDGA2	161357	broad.mit.edu	37	14	47504236	47504236	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:47504236G>T	ENST00000399232.2	-	8	1954	c.1590C>A	c.(1588-1590)gcC>gcA	p.A530A	MDGA2_ENST00000439988.3_Silent_p.A599A|MDGA2_ENST00000357362.3_Silent_p.A301A|MDGA2_ENST00000426342.1_Silent_p.A301A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	530	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTGCACCAAGGCTTCCCTTG	0.398																																							uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1588-1590)GCC>GCA		MAM domain containing 1 isoform 1							154.0	142.0	146.0					14																	47504236		1939	4143	6082	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504236G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1590C>A	14.37:g.47504236G>T						MDGA2_uc001wwi.3_Silent_p.A301A|MDGA2_uc010ani.2_Silent_p.A90A	p.A530A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1786	-			530			Ig-like 5.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1590C>A																																																																																					0.398	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	116	1	0	1.3612e-06	0.003163	1.90014e-06	12	116				
DACT1	51339	broad.mit.edu	37	14	59113481	59113481	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:59113481G>T	ENST00000335867.4	+	4	2164	c.2140G>T	c.(2140-2142)Gcc>Tcc	p.A714S	DACT1_ENST00000541264.2_Missense_Mutation_p.A433S|DACT1_ENST00000556859.1_Missense_Mutation_p.A433S|DACT1_ENST00000395153.3_Missense_Mutation_p.A677S			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	714					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCTGCCCTACGCCAGCCCCTA	0.677																																							uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2140-2142)GCC>TCC		dapper 1 isoform 1							34.0	37.0	36.0					14																	59113481		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113481G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2140G>T	14.37:g.59113481G>T	ENSP00000337439:p.Ala714Ser					DACT1_uc010trv.1_Missense_Mutation_p.A433S|DACT1_uc001xdx.2_Missense_Mutation_p.A677S|DACT1_uc010trw.1_Missense_Mutation_p.A433S	p.A714S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2304	+			714					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.2140G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	0.625	-0.819646	0.02776	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.74	0.787	0.18596	.	0.879431	0.10026	N	0.725338	T	0.25938	0.0632	L	0.31926	0.97	0.09310	N	1	B;B	0.17852	0.024;0.005	B;B	0.15484	0.013;0.005	T	0.31336	-0.9947	10	0.06757	T	0.87	-2.8155	7.3274	0.26563	0.2513:0.1112:0.6376:0.0	.	677;714	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	S	433;433;677;714;433	ENSP00000451598:A433S;ENSP00000378581:A433S;ENSP00000378582:A677S;ENSP00000337439:A714S;ENSP00000442850:A433S	ENSP00000337439:A714S	A	+	1	0	DACT1	58183234	0.091000	0.21658	0.025000	0.17156	0.181000	0.23173	0.572000	0.23684	-0.116000	0.11893	-0.214000	0.12660	GCC		0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		42	7	1	0	8.01111e-26	0.002522	1.57431e-25	42	7				
RHOJ	57381	broad.mit.edu	37	14	63671684	63671684	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:63671684G>T	ENST00000316754.3	+	1	559	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Missense_Mutation_p.G33W	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	33					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CGGTGCCGTGGGGAAAACCTG	0.547																																							uc001xgb.1		NA																	0					0						c.(97-99)GGG>TGG		ras homolog gene family, member J precursor							131.0	99.0	110.0					14																	63671684		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671684G>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.97G>T	14.37:g.63671684G>T	ENSP00000316729:p.Gly33Trp						p.G33W	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	540	+			33			GTP (By similarity).		Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.97G>T	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027033	0.93518	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	D;D	0.97791	-4.54;-4.54	4.65	4.65	0.58169	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98304	1.0520	10	0.87932	D	0	.	18.0653	0.89389	0.0:0.0:1.0:0.0	.	33	Q9H4E5	RHOJ_HUMAN	W	33	ENSP00000316729:G33W;ENSP00000451643:G33W	ENSP00000316729:G33W	G	+	1	0	RHOJ	62741437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.447000	0.97595	2.562000	0.86427	0.563000	0.77884	GGG		0.547	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			30	12	1	0	3.90053e-15	0.002445	6.66775e-15	30	12				
ZFYVE26	23503	broad.mit.edu	37	14	68222835	68222835	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:68222835C>A	ENST00000347230.4	-	36	6754	c.6616G>T	c.(6616-6618)Ggc>Tgc	p.G2206C	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.G52C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2206					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAAAATGCCTTCTATAAAA	0.473																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(6616-6618)GGC>TGC		zinc finger, FYVE domain containing 26							212.0	233.0	226.0					14																	68222835		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68222835C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6616G>T	14.37:g.68222835C>A	ENSP00000251119:p.Gly2206Cys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.G52C	p.G2206C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	36	6755	-			2206					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6616G>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698524	0.88830	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.47528	1.63;0.84	5.25	5.25	0.73442	.	0.054865	0.64402	D	0.000001	T	0.67739	0.2925	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.70375	-0.4889	10	0.72032	D	0.01	-19.7478	18.8468	0.92210	0.0:1.0:0.0:0.0	.	52;2206	Q96H43;Q68DK2	.;ZFY26_HUMAN	C	2206;2185;52	ENSP00000251119:G2206C;ENSP00000452142:G52C	ENSP00000251119:G2206C	G	-	1	0	ZFYVE26	67292588	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.786000	0.85741	2.467000	0.83353	0.462000	0.41574	GGC		0.473	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		251	68	1	0	1.7865e-107	0.00361	3.93852e-107	251	68				
PAPLN	89932	broad.mit.edu	37	14	73719443	73719443	+	Silent	SNP	C	C	A	rs200690849		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:73719443C>A	ENST00000554301.1	+	10	1217	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	PAPLN_ENST00000555445.1_Silent_p.R352R|PAPLN_ENST00000427855.1_Silent_p.R352R|PAPLN_ENST00000340738.5_Silent_p.R325R|PAPLN_ENST00000381166.3_Silent_p.R352R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642																																							uc010ttx.1		NA																	2	Substitution - Missense(2)		prostate(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1054-1056)CGG>AGG		papilin							81.0	82.0	82.0					14																	73719443		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719443C>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1054C>A	14.37:g.73719443C>A						PAPLN_uc001xnw.3_Silent_p.R325R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.R352R	p.R352R	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	10	1217	+			352			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1054C>A																																																																																					0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		49	56	1	0	2.43277e-16	0.00361	4.25735e-16	49	56				
SAMD15	161394	broad.mit.edu	37	14	77844926	77844926	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:77844926C>G	ENST00000216471.4	+	1	1451	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	389										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGATCAACCCACAAGTTGA	0.413																																							uc001xtq.1		NA																	0					0						c.(1165-1167)CCA>GCA		hypothetical protein LOC161394							87.0	89.0	88.0					14																	77844926		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844926C>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1165C>G	14.37:g.77844926C>G	ENSP00000216471:p.Pro389Ala					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.P389A	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1165	+			389					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1165C>G	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910725	0.33721	.	.	ENSG00000100583	ENST00000216471	T	0.31510	1.49	5.31	4.4	0.53042	.	0.507011	0.14882	N	0.292886	T	0.27098	0.0664	L	0.45137	1.4	0.09310	N	1	P	0.43024	0.798	B	0.39465	0.3	T	0.07046	-1.0793	10	0.41790	T	0.15	-0.7141	11.1747	0.48593	0.1844:0.8156:0.0:0.0	.	389	Q9P1V8	SAM15_HUMAN	A	389	ENSP00000216471:P389A	ENSP00000216471:P389A	P	+	1	0	SAMD15	76914679	0.123000	0.22298	0.047000	0.18901	0.140000	0.21249	0.101000	0.15251	1.205000	0.43262	0.555000	0.69702	CCA		0.413	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		21	48	0	0	0	0.001523	0	21	48				
ALKBH1	8846	broad.mit.edu	37	14	78140172	78140172	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:78140172T>A	ENST00000216489.3	-	6	1168	c.1153A>T	c.(1153-1155)Ata>Tta	p.I385L		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	385					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCAGGGTTTATCCTGGCCCGT	0.453																																							uc001xuc.1		NA																	0				ovary(1)|skin(1)	2						c.(1153-1155)ATA>TTA		alkylated DNA repair protein alkB homolog							158.0	145.0	149.0					14																	78140172		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140172T>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.1153A>T	14.37:g.78140172T>A	ENSP00000216489:p.Ile385Leu					ALKBH1_uc001xud.1_RNA	p.I385L	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	1162	-			385					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.1153A>T	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	T	9.964	1.223613	0.22457	.	.	ENSG00000100601	ENST00000216489	T	0.27890	1.64	5.91	-4.36	0.03645	.	1.053370	0.07482	N	0.904114	T	0.08268	0.0206	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	10	0.02654	T	1	-9.5751	6.6105	0.22749	0.311:0.0:0.4373:0.2517	.	385	Q13686	ALKB1_HUMAN	L	385	ENSP00000216489:I385L	ENSP00000216489:I385L	I	-	1	0	ALKBH1	77209925	0.000000	0.05858	0.000000	0.03702	0.747000	0.42532	-0.582000	0.05814	-0.313000	0.08728	0.529000	0.55759	ATA		0.453	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		37	24	0	0	0	0.005524	0	37	24				
KCNK13	56659	broad.mit.edu	37	14	90650517	90650517	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:90650517G>T	ENST00000282146.4	+	2	838	c.397G>T	c.(397-399)Gtt>Ttt	p.V133F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	133					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTACGGCCTTGTTGGGTGTTC	0.502																																							uc001xye.1		NA																	0				skin(1)	1						c.(397-399)GTT>TTT		potassium channel, subfamily K, member 13							113.0	120.0	118.0					14																	90650517		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650517G>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.397G>T	14.37:g.90650517G>T	ENSP00000282146:p.Val133Phe						p.V133F	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	839	+		all_cancers(154;0.186)	133			Helical; (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.397G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	0.151	-1.091785	0.01858	.	.	ENSG00000152315	ENST00000282146	T	0.31510	1.49	5.31	-7.78	0.01223	Ion transport 2 (1);	0.660459	0.12487	N	0.464632	T	0.08403	0.0209	N	0.04373	-0.215	0.28073	N	0.932504	B	0.02656	0.0	B	0.06405	0.002	T	0.31052	-0.9957	10	0.06494	T	0.89	.	7.0159	0.24887	0.4508:0.208:0.3412:0.0	.	133	Q9HB14	KCNKD_HUMAN	F	133	ENSP00000282146:V133F	ENSP00000282146:V133F	V	+	1	0	KCNK13	89720270	0.601000	0.26907	0.481000	0.27354	0.227000	0.25037	0.313000	0.19415	-1.868000	0.01142	-0.889000	0.02933	GTT		0.502	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		80	23	1	0	1.75807e-36	0.00361	3.70547e-36	80	23				
SLC24A4	123041	broad.mit.edu	37	14	92959890	92959890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:92959890C>A	ENST00000532405.1	+	17	2013	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	SLC24A4_ENST00000298877.1_Missense_Mutation_p.A579D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A577D|SLC24A4_ENST00000393265.2_Missense_Mutation_p.A532D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A560D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	596					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTTCTCTACGCCATCTTCTTG	0.547																																					NSCLC(10;315 435 10383 28450 38798)	NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(1735-1737)GCC>GAC		solute carrier family 24 member 4 isoform 1							249.0	197.0	214.0					14																	92959890		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92959890C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1787C>A	14.37:g.92959890C>A	ENSP00000431840:p.Ala596Asp					SLC24A4_uc001yai.2_Missense_Mutation_p.A532D|SLC24A4_uc010twm.1_Missense_Mutation_p.A577D|SLC24A4_uc001yaj.2_Missense_Mutation_p.A560D|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.A352D|SLC24A4_uc001yan.2_Missense_Mutation_p.A290D	p.A579D	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	17	1760	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	596			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1736C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392441	0.83011	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;D	0.81659	0.21;-0.22;0.21;0.21;-1.52	5.37	4.49	0.54785	Sodium/calcium exchanger membrane region (1);	0.050363	0.85682	D	0.000000	D	0.87120	0.6098	M	0.83483	2.645	0.58432	D	0.999999	P;P	0.48230	0.907;0.872	P;P	0.56751	0.805;0.508	D	0.87160	0.2214	10	0.51188	T	0.08	.	10.4753	0.44661	0.0:0.7932:0.134:0.0727	.	577;596	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	D	532;577;596;579;560	ENSP00000376948:A532D;ENSP00000433302:A577D;ENSP00000431840:A596D;ENSP00000298877:A579D;ENSP00000337789:A560D	ENSP00000298877:A579D	A	+	2	0	SLC24A4	92029643	0.937000	0.31787	0.876000	0.34364	0.991000	0.79684	2.045000	0.41250	1.272000	0.44329	0.561000	0.74099	GCC		0.547	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		47	12	1	0	2.24722e-20	0.00361	4.23396e-20	47	12				
UNC79	57578	broad.mit.edu	37	14	94053228	94053228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:94053228C>A	ENST00000393151.2	+	22	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.Y825*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Y1002*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.Y1002*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1002					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						TTTTAGCCTACATTCAGGACC	0.343																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(2473-2475)TAC>TAA		hypothetical protein LOC57578							179.0	169.0	172.0					14																	94053228		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94053228C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3006C>A	14.37:g.94053228C>A	ENSP00000376858:p.Tyr1002*					KIAA1409_uc001ybs.1_Nonsense_Mutation_p.Y825*	p.Y825*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	19	2558	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1002					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.2475C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.070764	0.98638	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.94	0.858	0.19030	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.8422	8.7117	0.34387	0.0:0.3749:0.0:0.6251	.	.	.	.	X	825;1002;1002;1002;1002	.	ENSP00000256339:Y825X	Y	+	3	2	KIAA1409	93122981	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.023000	0.30065	0.088000	0.17205	0.650000	0.86243	TAC		0.343	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		124	37	1	0	3.78446e-69	0.00361	8.28607e-69	124	37				
SERPINA5	5104	broad.mit.edu	37	14	95053813	95053813	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:95053813C>A	ENST00000554866.1	+	2	228	c.114C>A	c.(112-114)gcC>gcA	p.A38A	SERPINA5_ENST00000553780.1_Silent_p.A38A|SERPINA5_ENST00000554276.1_Silent_p.A38A|SERPINA5_ENST00000329597.7_Silent_p.A38A			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	38					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGTAGGTGCCACGGTGGCCC	0.622																																							uc001ydm.2		NA																	0				ovary(2)	2						c.(112-114)GCC>GCA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						56.0	55.0	56.0					14																	95053813		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053813C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.114C>A	14.37:g.95053813C>A						SERPINA5_uc010ave.2_Silent_p.A38A|SERPINA5_uc001ydn.1_Silent_p.A38A	p.A38A	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	324	+			38					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.114C>A	CCDS9928.1																																																																																				0.622	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		52	14	1	0	6.81593e-30	0.00361	1.39371e-29	52	14				
TDRD9	122402	broad.mit.edu	37	14	104441747	104441747	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:104441747A>G	ENST00000409874.4	+	7	916	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TDRD9_ENST00000339063.5_Missense_Mutation_p.I290V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCGGCTACCATCAGCTGTAA	0.378																																							uc001yom.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(868-870)ATC>GTC		tudor domain containing 9							137.0	124.0	129.0					14																	104441747		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104441747A>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.868A>G	14.37:g.104441747A>G	ENSP00000387303:p.Ile290Val					TDRD9_uc001yon.3_Missense_Mutation_p.I28V	p.I290V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			7	898	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	290			Helicase ATP-binding.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.868A>G	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.82|15.82	2.945477|2.945477	0.53079|0.53079	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.20598	.|2.06;2.06	5.49|5.49	5.49|5.49	0.81192|0.81192	.|DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.22742|0.22742	0.0549|0.0549	N|N	0.20766|0.20766	0.605|0.605	0.80722|0.80722	D|D	1|1	.|P;P	.|0.39352	.|0.669;0.623	.|B;P	.|0.46917	.|0.264;0.531	T|T	0.03910|0.03910	-1.0993|-1.0993	5|10	.|0.52906	.|T	.|0.07	.|.	15.5751|15.5751	0.76373|0.76373	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|290;290	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	R|V	16|290	.|ENSP00000387303:I290V;ENSP00000343545:I290V	.|ENSP00000343545:I290V	H|I	+|+	2|1	0|0	TDRD9|TDRD9	103511500|103511500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	9.240000|9.240000	0.95396|0.95396	2.086000|2.086000	0.62901|0.62901	0.528000|0.528000	0.53228|0.53228	CAT|ATC		0.378	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		4	72	0	0	0	0.000602	0	4	72				
KIF26A	26153	broad.mit.edu	37	14	104640563	104640563	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:104640563G>T	ENST00000423312.2	+	11	2109	c.2109G>T	c.(2107-2109)tcG>tcT	p.S703S	KIF26A_ENST00000315264.7_Silent_p.S564S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	703	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCACGTGTCGGATGCGCCAG	0.682																																							uc001yos.3		NA																	0				pancreas(1)	1						c.(2107-2109)TCG>TCT		kinesin family member 26A							18.0	24.0	22.0					14																	104640563		2164	4251	6415	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104640563G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2109G>T	14.37:g.104640563G>T							p.S703S	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	2109	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	703					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.2109G>T	CCDS45171.1																																																																																				0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			10	5	1	0	0.000442599	0.006214	0.000570501	10	5				
MTA1	9112	broad.mit.edu	37	14	105929519	105929519	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:105929519A>G	ENST00000331320.7	+	11	1156		c.e11-1		MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000405646.1_Splice_Site|MTA1_ENST00000406191.1_Splice_Site	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1						circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCTCCCACCCAGCTCCCGTGG	0.647																																							uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e11-2		metastasis associated protein							116.0	115.0	115.0					14																	105929519		2203	4300	6503	SO:0001630	splice_region_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105929519A>G	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.943-1A>G	14.37:g.105929519A>G						MTA1_uc001yqy.2_Splice_Site|MTA1_uc001yrb.2_Splice_Site_p.L76_splice	p.L315_splice	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	11	1130	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)						A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Splice_Site	SNP	ENST00000331320.7	37	c.943_splice	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511031	0.44660	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0728	0.48014	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTA1	105000564	1.000000	0.71417	0.992000	0.48379	0.651000	0.38670	9.162000	0.94745	1.350000	0.45770	0.460000	0.39030	.		0.647	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Intron	127	101	0	0	0	0.00361	0	127	101				
MAGEL2	54551	broad.mit.edu	37	15	23889722	23889722	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:23889722A>T	ENST00000532292.1	-	1	1453	c.1359T>A	c.(1357-1359)gaT>gaA	p.D453E		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	336	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTAAGCACTCATCTTTATACT	0.453																																							uc001ywj.3		NA																	0					0						c.(1357-1359)GAT>GAA		MAGE-like protein 2							72.0	68.0	69.0					15																	23889722		1963	4149	6112	SO:0001583	missense	54551							g.chr15:23889722A>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1359T>A	15.37:g.23889722A>T	ENSP00000433433:p.Asp453Glu						p.D453E	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1454	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1359T>A		.	.	.	.	.	.	.	.	.	.	A	9.940	1.217134	0.22373	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.68	-5.62	0.02481	.	.	.	.	.	T	0.27349	0.0671	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.33777	-0.9855	5	.	.	.	.	7.2959	0.26393	0.3622:0.1246:0.5132:0.0	.	.	.	.	K	485	.	.	M	-	2	0	MAGEL2	21440815	0.000000	0.05858	0.044000	0.18714	0.755000	0.42902	-1.033000	0.03571	-1.101000	0.03027	-1.039000	0.02377	ATG		0.453	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		26	23	0	0	0	0.00632	0	26	23				
ATP10A	57194	broad.mit.edu	37	15	25924502	25924502	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:25924502T>A	ENST00000356865.6	-	21	4597	c.4486A>T	c.(4486-4488)Agg>Tgg	p.R1496W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1496					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTGACCGCCTTGAAGATGCT	0.423																																							uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(4486-4488)AGG>TGG		ATPase, class V, type 10A							53.0	56.0	55.0					15																	25924502		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924502T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4486A>T	15.37:g.25924502T>A	ENSP00000349325:p.Arg1496Trp						p.R1496W	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4592	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1496			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4486A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339086	0.41398	.	.	ENSG00000206190	ENST00000356865	T	0.11277	2.79	4.6	2.2	0.27929	.	9.089460	0.00166	N	0.000000	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.50049	0.629	T	0.20840	-1.0263	10	0.72032	D	0.01	-0.5498	6.255	0.20870	0.0:0.0828:0.1598:0.7574	.	1496	O60312	AT10A_HUMAN	W	1496	ENSP00000349325:R1496W	ENSP00000349325:R1496W	R	-	1	2	ATP10A	23475595	0.809000	0.29036	0.003000	0.11579	0.214000	0.24535	2.344000	0.44010	0.256000	0.21614	0.533000	0.62120	AGG		0.423	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		33	29	0	0	0	0.002836	0	33	29				
APBA2	321	broad.mit.edu	37	15	29386483	29386483	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:29386483G>T	ENST00000558402.1	+	9	1817	c.1218G>T	c.(1216-1218)agG>agT	p.R406S	APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558259.1_Missense_Mutation_p.R406S|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000561069.1_Missense_Mutation_p.R406S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	406	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCTGTCAGAGGATGCAAAAGG	0.507																																							uc001zck.2		NA																	0					0						c.(1216-1218)AGG>AGT		amyloid beta A4 precursor protein-binding,							193.0	168.0	176.0					15																	29386483		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29386483G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1218G>T	15.37:g.29386483G>T	ENSP00000453293:p.Arg406Ser					APBA2_uc010azj.2_Intron|APBA2_uc010uat.1_Intron|APBA2_uc001zcl.2_Intron|APBA2_uc001zcm.1_Intron	p.R406S	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	7	1425	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	406			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1218G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660197	0.67586	.	.	ENSG00000034053	ENST00000219865	.	.	.	5.03	5.03	0.67393	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.067668	0.64402	D	0.000018	T	0.37571	0.1008	N	0.04508	-0.205	0.80722	D	1	B	0.29766	0.256	B	0.34346	0.18	T	0.28490	-1.0042	9	0.12103	T	0.63	.	17.3493	0.87318	0.0:0.0:1.0:0.0	.	406	Q99767	APBA2_HUMAN	S	406	.	ENSP00000219865:R406S	R	+	3	2	APBA2	27173775	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.610000	0.74178	2.500000	0.84329	0.555000	0.69702	AGG		0.507	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		24	81	1	0	1.33986e-20	0.004656	2.53438e-20	24	81				
PAK6	56924	broad.mit.edu	37	15	40564701	40564701	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:40564701G>T	ENST00000542403.2	+	4	1246	c.1135G>T	c.(1135-1137)Ggt>Tgt	p.G379C	PAK6_ENST00000441369.1_Missense_Mutation_p.G379C|PAK6_ENST00000455577.2_Missense_Mutation_p.G379C|PAK6_ENST00000453867.1_Missense_Mutation_p.G379C|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.G379C|PAK6_ENST00000260404.4_Missense_Mutation_p.G379C	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	379	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCCCTGGCTGGTGAGGACAC	0.647																																							uc010bbl.2		NA																	0				lung(5)|large_intestine(1)|ovary(1)|skin(1)	8						c.(1135-1137)GGT>TGT		p21-activated kinase 6							61.0	53.0	56.0					15																	40564701		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564701G>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1135G>T	15.37:g.40564701G>T	ENSP00000439597:p.Gly379Cys					PAK6_uc010bbm.2_Missense_Mutation_p.G379C|PAK6_uc001zky.3_Missense_Mutation_p.G379C|PAK6_uc010bbn.2_Missense_Mutation_p.G379C|PAK6_uc001zlb.2_Missense_Mutation_p.G379C	p.G379C	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1575	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	379			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1135G>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408786	0.25378	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74526	-0.81;-0.81;-0.85;-0.81;-0.81	5.19	-2.58	0.06228	.	0.886757	0.10018	N	0.726281	T	0.60856	0.2301	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.48127	-0.9062	10	0.62326	D	0.03	.	7.92	0.29839	0.6269:0.0:0.2518:0.1213	.	379;379	Q9NQU5;G5E9R2	PAK6_HUMAN;.	C	379	ENSP00000406873:G379C;ENSP00000401153:G379C;ENSP00000409465:G379C;ENSP00000260404:G379C;ENSP00000439597:G379C	ENSP00000260404:G379C	G	+	1	0	PAK6	38351993	0.000000	0.05858	0.001000	0.08648	0.722000	0.41435	0.853000	0.27777	-0.925000	0.03775	-0.258000	0.10820	GGT		0.647	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			9	9	1	0	7.48243e-07	0.006214	1.05369e-06	9	9				
SQRDL	58472	broad.mit.edu	37	15	45968317	45968317	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:45968317G>T	ENST00000260324.7	+	6	1059	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	SQRDL_ENST00000568606.1_Missense_Mutation_p.A225S|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A225S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	225					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCGATCCAAGGCCAATATCAT	0.418																																							uc001zvt.2		NA																	0				ovary(1)	1						c.(673-675)GCC>TCC		sulfide dehydrogenase like precursor							168.0	178.0	175.0					15																	45968317		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45968317G>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.673G>T	15.37:g.45968317G>T	ENSP00000260324:p.Ala225Ser					SQRDL_uc001zvu.2_Missense_Mutation_p.A225S|SQRDL_uc001zvv.2_Missense_Mutation_p.A225S	p.A225S	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	862	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	225					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.673G>T	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107156	0.37145	.	.	ENSG00000137767	ENST00000260324	T	0.42513	0.97	5.45	4.53	0.55603	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.097055	0.64402	D	0.000001	T	0.34193	0.0889	L	0.33710	1.025	0.80722	D	1	B	0.27498	0.18	B	0.34242	0.178	T	0.09707	-1.0662	10	0.25106	T	0.35	.	12.3791	0.55297	0.082:0.0:0.918:0.0	.	225	Q9Y6N5	SQRD_HUMAN	S	225	ENSP00000260324:A225S	ENSP00000260324:A225S	A	+	1	0	SQRDL	43755609	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.949000	0.87791	2.562000	0.86427	0.655000	0.94253	GCC		0.418	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	35	1	0	8.72198e-27	0.00361	1.75722e-26	49	35				
SHC4	399694	broad.mit.edu	37	15	49255113	49255113	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:49255113G>T	ENST00000332408.4	-	1	528	c.100C>A	c.(100-102)Cgg>Agg	p.R34R		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	34	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GACTCGTTCCGAAAGCGGCTG	0.652																																							uc001zxb.1		NA																	0				ovary(3)|pancreas(2)	5						c.(100-102)CGG>AGG		rai-like protein							68.0	72.0	71.0					15																	49255113		2196	4294	6490	SO:0001819	synonymous_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255113G>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.100C>A	15.37:g.49255113G>T							p.R34R	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	529	-		all_lung(180;0.00466)	34			CH2.		Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	c.100C>A	CCDS10130.1																																																																																				0.652	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		23	22	1	0	4.26978e-12	0.00333	6.81317e-12	23	22				
SCG3	29106	broad.mit.edu	37	15	51975582	51975582	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:51975582G>T	ENST00000220478.3	+	4	751	c.348G>T	c.(346-348)ctG>ctT	p.L116L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	116					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATCGAAAACTGATCGATGATT	0.323																																							uc002abh.2		NA																	0				ovary(1)	1						c.(346-348)CTG>CTT		secretogranin III isoform 1 precursor							112.0	119.0	117.0					15																	51975582		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975582G>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.348G>T	15.37:g.51975582G>T						SCG3_uc010ufz.1_5'UTR	p.L116L	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	756	+			116					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.348G>T	CCDS10142.1																																																																																				0.323	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		5	52	1	0	0.000602214	0.000602	0.000770031	5	52				
GOLGA6B	55889	broad.mit.edu	37	15	72953671	72953671	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:72953671C>A	ENST00000421285.3	+	8	631	c.631C>A	c.(631-633)Ctg>Atg	p.L211M		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	211						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCGGGCGCTGCTGAACGCACA	0.592																																							uc010uks.1		NA																	0					0						c.(631-633)CTG>ATG		golgi autoantigen, golgin subfamily a, 6B							44.0	56.0	52.0					15																	72953671		1451	2589	4040	SO:0001583	missense	55889							g.chr15:72953671C>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.631C>A	15.37:g.72953671C>A	ENSP00000408132:p.Leu211Met						p.L211M	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			8	672	+			211			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.631C>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	10.25	1.299206	0.23650	.	.	ENSG00000215186	ENST00000421285	T	0.24151	1.87	0.39	0.39	0.16275	.	.	.	.	.	T	0.46249	0.1383	M	0.86028	2.79	0.23351	N	0.997851	D	0.62365	0.991	D	0.65323	0.934	T	0.23154	-1.0196	9	0.37606	T	0.19	.	6.668	0.23052	0.0:0.9998:0.0:2.0E-4	.	211	A6NDN3	GOG6B_HUMAN	M	211	ENSP00000408132:L211M	ENSP00000408132:L211M	L	+	1	2	GOLGA6B	70740725	0.506000	0.26139	0.009000	0.14445	0.014000	0.08584	1.163000	0.31798	0.472000	0.27344	0.134000	0.15878	CTG		0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		15	65	1	0	8.00594e-06	0.007413	1.08749e-05	15	65				
CSPG4	1464	broad.mit.edu	37	15	75968962	75968962	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:75968962G>T	ENST00000308508.5	-	10	5990	c.5898C>A	c.(5896-5898)ctC>ctA	p.L1966L	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1966	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAACCACCCGGAGCTGCTGCT	0.672																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(5896-5898)CTC>CTA		chondroitin sulfate proteoglycan 4 precursor							39.0	48.0	45.0					15																	75968962		2196	4292	6488	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968962G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5898C>A	15.37:g.75968962G>T							p.L1966L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			10	5991	-			1966			Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.5898C>A	CCDS10284.1																																																																																				0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		14	26	1	0	1.52009e-12	0.003163	2.45415e-12	14	26				
CSPG4	1464	broad.mit.edu	37	15	75979682	75979682	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:75979682C>G	ENST00000308508.5	-	3	3816	c.3724G>C	c.(3724-3726)Gtc>Ctc	p.V1242L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1242	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGTGCCGGACCAGCTTCAGT	0.617																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(3724-3726)GTC>CTC		chondroitin sulfate proteoglycan 4 precursor							64.0	68.0	67.0					15																	75979682		2194	4287	6481	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979682C>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3724G>C	15.37:g.75979682C>G	ENSP00000312506:p.Val1242Leu						p.V1242L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	3817	-			1242			CSPG 8.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3724G>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	11.28	1.591158	0.28357	.	.	ENSG00000173546	ENST00000308508	T	0.22134	1.97	5.39	2.24	0.28232	.	0.418713	0.22128	N	0.064224	T	0.11110	0.0271	L	0.27053	0.805	0.09310	N	0.999999	B	0.16396	0.017	B	0.13407	0.009	T	0.34576	-0.9823	10	0.15066	T	0.55	.	4.8725	0.13640	0.1464:0.4948:0.2831:0.0758	.	1242	Q6UVK1	CSPG4_HUMAN	L	1242	ENSP00000312506:V1242L	ENSP00000312506:V1242L	V	-	1	0	CSPG4	73766737	0.004000	0.15560	0.039000	0.18376	0.799000	0.45148	0.182000	0.16900	0.175000	0.19841	0.555000	0.69702	GTC		0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		18	32	0	0	0	0.008871	0	18	32				
ABHD2	11057	broad.mit.edu	37	15	89738464	89738464	+	Missense_Mutation	SNP	G	G	T	rs201203844		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:89738464G>T	ENST00000352732.5	+	11	1608	c.1088G>T	c.(1087-1089)cGa>cTa	p.R363L	ABHD2_ENST00000355100.3_Missense_Mutation_p.R363L|ABHD2_ENST00000565973.1_Missense_Mutation_p.R363L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	363					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAGAGAAACGAGAGAACGTC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20341	0.001		0.0	False		,,,				2504	0.0				Colon(11;252 417 24570 33239 41878)	Colon(11;252 417 24570 33239 41878)	uc002bnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1087-1089)CGA>CTA		alpha/beta hydrolase domain containing protein							134.0	117.0	123.0					15																	89738464		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89738464G>T	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1088G>T	15.37:g.89738464G>T	ENSP00000268129:p.Arg363Leu					ABHD2_uc002bnk.2_Missense_Mutation_p.R363L	p.R363L	NM_007011	NP_008942	P08910	ABHD2_HUMAN			16	2005	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		363					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1088G>T	CCDS10348.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.24	3.067540	0.55539	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.60299	0.2;0.2	5.75	5.75	0.90469	Alpha/beta hydrolase fold-1 (1);	0.106386	0.64402	D	0.000009	T	0.45975	0.1369	L	0.38175	1.15	0.40599	D	0.981567	B	0.10296	0.003	B	0.20577	0.03	T	0.37244	-0.9714	10	0.27082	T	0.32	10.3586	10.0465	0.42190	0.1528:0.0:0.8472:0.0	.	363	P08910	ABHD2_HUMAN	L	363	ENSP00000268129:R363L;ENSP00000347217:R363L	ENSP00000268129:R363L	R	+	2	0	ABHD2	87539468	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.282000	0.33226	2.725000	0.93324	0.655000	0.94253	CGA		0.567	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			13	40	1	0	4.3838e-07	0.001855	6.22824e-07	13	40				
CLCN7	1186	broad.mit.edu	37	16	1507713	1507714	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:1507713_1507714CC>AA	ENST00000382745.4	-	8	1324_1325	c.719_720GG>TT	c.(718-720)gGG>gTT	p.G240V	CLCN7_ENST00000448525.1_Missense_Mutation_p.G216V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G216V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	240			G -> R (in OPTB4). {ECO:0000269|PubMed:14584882, ECO:0000269|PubMed:19953639}.		chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGGCCAGGCCCCCGACCACGGA	0.629																																							uc002clv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(718-720)GGG>GTT		chloride channel 7 isoform a																																				SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507713_1507714CC>AA	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.719_720delinsAA	16.37:g.1507713_1507714delinsAA	ENSP00000372193:p.Gly240Val					CLCN7_uc002clw.2_Missense_Mutation_p.G216V	p.G240V	NM_001287	NP_001278	P51798	CLCN7_HUMAN			8	829_830	-		Hepatocellular(780;0.0893)	240		G -> R (in OPTB4).	Helical; (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	DNP	ENST00000382745.4	37	c.719_720GG>TT	CCDS32361.1																																																																																				0.629	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		6	21	0	0	0	0.004672	0	6	21				
ZG16B	124220	broad.mit.edu	37	16	2880331	2880331	+	Splice_Site	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:2880331T>A	ENST00000382280.3	+	1	160		c.e1+2		ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B						retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ACAGGCGAGGTAAGGTGCTTG	0.637																																							uc002cru.2		NA																	0				ovary(1)	1						c.e1+2		zymogen granule protein 16 homolog B precursor							34.0	45.0	42.0					16																	2880331		1981	4139	6120	SO:0001630	splice_region_variant	124220					extracellular region	sugar binding	g.chr16:2880331T>A	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.81+2T>A	16.37:g.2880331T>A							p.E27_splice	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			1	157	+								A6NIY1|B2R4F6|Q6UW28	Splice_Site	SNP	ENST00000382280.3	37	c.81_splice	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	t	6.049	0.377374	0.11466	.	.	ENSG00000162078	ENST00000382280	.	.	.	2.86	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.25919	N	0.983136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7149	0.12891	0.0:0.1497:0.0:0.8503	.	.	.	.	.	-1	.	.	.	+	.	.	ZG16B	2820332	0.619000	0.27059	0.253000	0.24343	0.052000	0.14988	0.668000	0.25127	0.513000	0.28278	0.255000	0.18592	.		0.637	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252	Intron	4	6	0	0	0	0.001168	0	4	6				
MEFV	4210	broad.mit.edu	37	16	3304279	3304279	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:3304279T>A	ENST00000219596.1	-	2	828	c.789A>T	c.(787-789)ctA>ctT	p.L263L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	263					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCTTTTCCTCTAGAGTCAGGA	0.572																																							uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(787-789)CTA>CTT		Mediterranean fever protein	Colchicine(DB01394)						121.0	137.0	132.0					16																	3304279		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304279T>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.789A>T	16.37:g.3304279T>A							p.L263L	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	829	-			263					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.789A>T	CCDS10498.1																																																																																				0.572	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		39	68	0	0	0	0.007835	0	39	68				
ZNF500	26048	broad.mit.edu	37	16	4815625	4815625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:4815625C>A	ENST00000219478.6	-	2	654	c.355G>T	c.(355-357)Gag>Tag	p.E119*	ZNF500_ENST00000545009.1_Nonsense_Mutation_p.E119*			O60304	ZN500_HUMAN	zinc finger protein 500	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACGGCCTCCTCACCGCTCTCC	0.647																																							uc002cxp.1		NA																	0				ovary(2)|skin(1)	3						c.(355-357)GAG>TAG		zinc finger protein 500							43.0	43.0	43.0					16																	4815625		2197	4300	6497	SO:0001587	stop_gained	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815625C>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.355G>T	16.37:g.4815625C>A	ENSP00000219478:p.Glu119*					ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Nonsense_Mutation_p.E119*	p.E119*	NM_021646	NP_067678	O60304	ZN500_HUMAN			2	602	-			119			SCAN box.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Nonsense_Mutation	SNP	ENST00000219478.6	37	c.355G>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	38	7.274473	0.98179	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	.	.	.	3.94	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.5259	0.27656	0.0:0.8765:0.0:0.1235	.	.	.	.	X	119	.	ENSP00000219478:E119X	E	-	1	0	ZNF500	4755626	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	0.664000	0.31047	0.655000	0.94253	GAG		0.647	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		16	36	1	0	6.31663e-08	0.003163	9.16436e-08	16	36				
RBFOX1	54715	broad.mit.edu	37	16	7645589	7645589	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:7645589G>T	ENST00000550418.1	+	8	1495	c.507G>T	c.(505-507)gcG>gcT	p.A169A	RBFOX1_ENST00000436368.2_Silent_p.A189A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Silent_p.A189A|RBFOX1_ENST00000355637.4_Silent_p.A189A|RBFOX1_ENST00000547372.1_Silent_p.A212A|RBFOX1_ENST00000340209.4_Silent_p.A174A|RBFOX1_ENST00000552089.1_Silent_p.A186A|RBFOX1_ENST00000553186.1_Silent_p.A169A|RBFOX1_ENST00000547338.1_Silent_p.A169A|RBFOX1_ENST00000422070.4_Silent_p.A212A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	169	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTGCCGATGCGGACAGGGCGA	0.428																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	0					0						c.(505-507)GCG>GCT		ataxin 2-binding protein 1 isoform 4							175.0	155.0	162.0					16																	7645589		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645589G>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.507G>T	16.37:g.7645589G>T						A2BP1_uc010buf.1_Silent_p.A169A|A2BP1_uc002cyr.1_Silent_p.A168A|A2BP1_uc002cyt.2_Silent_p.A169A|A2BP1_uc010uxz.1_Silent_p.A212A|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.A169A|A2BP1_uc010uyb.1_Silent_p.A169A|A2BP1_uc002cyw.2_Silent_p.A189A|A2BP1_uc002cyy.2_Silent_p.A189A|A2BP1_uc002cyx.2_Silent_p.A189A|A2BP1_uc010uyc.1_Silent_p.A189A	p.A169A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	8	1495	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	169			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.507G>T	CCDS55983.1																																																																																				0.428	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		28	52	1	0	5.8336e-16	0.003271	1.01532e-15	28	52				
MYH11	4629	broad.mit.edu	37	16	15853483	15853483	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:15853483C>T	ENST00000300036.5	-	12	1460	c.1351G>A	c.(1351-1353)Ggg>Agg	p.G451R	MYH11_ENST00000396324.3_Missense_Mutation_p.G458R|MYH11_ENST00000576790.2_Missense_Mutation_p.G451R|MYH11_ENST00000452625.2_Missense_Mutation_p.G458R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	451	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGGAAGCCCCTTGCCGATGG	0.532			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1351-1353)GGG>AGG		smooth muscle myosin heavy chain 11 isoform							134.0	124.0	127.0					16																	15853483		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15853483C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1351G>A	16.37:g.15853483C>T	ENSP00000300036:p.Gly451Arg					MYH11_uc002ddv.2_Missense_Mutation_p.G458R|MYH11_uc002ddw.2_Missense_Mutation_p.G451R|MYH11_uc002ddx.2_Missense_Mutation_p.G458R|MYH11_uc010bvg.2_Missense_Mutation_p.G283R|MYH11_uc002dea.1_Missense_Mutation_p.G157R	p.G451R	NM_002474	NP_002465	P35749	MYH11_HUMAN			12	1458	-			451			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1351G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201023	0.94997	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.122706	0.56097	D	0.000037	D	0.89305	0.6677	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993;0.993	T	0.83291	-0.0033	10	0.02654	T	1	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	458;451;451;458;451;458	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	R	451;451;458;458;458	ENSP00000300036:G451R;ENSP00000345136:G451R;ENSP00000379616:G458R;ENSP00000407821:G458R	ENSP00000300036:G451R	G	-	1	0	MYH11	15760984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.706000	0.92434	0.561000	0.74099	GGG		0.532	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		20	59	0	0	0	0.008871	0	20	59				
ABCC1	4363	broad.mit.edu	37	16	16184348	16184348	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:16184348G>T	ENST00000399410.3	+	19	2722	c.2547G>T	c.(2545-2547)atG>atT	p.M849I	ABCC1_ENST00000351154.5_Missense_Mutation_p.M790I|ABCC1_ENST00000346370.5_Missense_Mutation_p.M793I|ABCC1_ENST00000399408.2_Missense_Mutation_p.M849I|ABCC1_ENST00000345148.5_Missense_Mutation_p.M849I|ABCC1_ENST00000349029.5_Missense_Mutation_p.M734I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	849	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCTCTGAGATGGGCTCCTACC	0.597																																							uc010bvi.2		NA																	0				ovary(4)	4						c.(2545-2547)ATG>ATT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						35.0	37.0	36.0					16																	16184348		2059	4208	6267	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16184348G>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2547G>T	16.37:g.16184348G>T	ENSP00000382342:p.Met849Ile					ABCC1_uc010bvj.2_Missense_Mutation_p.M790I|ABCC1_uc010bvk.2_Missense_Mutation_p.M793I|ABCC1_uc010bvl.2_Missense_Mutation_p.M849I|ABCC1_uc010bvm.2_Missense_Mutation_p.M734I|ABCC1_uc002del.3_Missense_Mutation_p.M733I	p.M849I	NM_004996	NP_004987	P33527	MRP1_HUMAN			19	2722	+			849			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2547G>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354006	0.24512	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.170317	0.64402	D	0.000005	T	0.40546	0.1121	N	0.05574	-0.02	0.36431	D	0.864936	B;B;P;B;B;B	0.35700	0.0;0.043;0.516;0.188;0.141;0.221	B;B;B;B;B;B	0.34652	0.004;0.019;0.187;0.084;0.05;0.108	T	0.49969	-0.8882	10	0.18710	T	0.47	-48.8388	13.8636	0.63574	0.0:0.1527:0.8473:0.0	.	734;849;793;790;849;849	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	849;849;793;790;849;734;523	ENSP00000382342:M849I;ENSP00000382340:M849I;ENSP00000263019:M793I;ENSP00000263017:M790I;ENSP00000263014:M849I;ENSP00000263016:M734I	ENSP00000263014:M849I	M	+	3	0	ABCC1	16091849	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	2.495000	0.45337	2.531000	0.85337	0.655000	0.94253	ATG		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		6	9	1	0	2.0095e-06	0.001984	2.76883e-06	6	9				
C16orf62	57020	broad.mit.edu	37	16	19644488	19644488	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:19644488C>T	ENST00000251143.5	+	19	1641	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	C16orf62_ENST00000417362.2_Silent_p.Y476Y|C16orf62_ENST00000438132.3_Silent_p.Y632Y|C16orf62_ENST00000448695.1_Silent_p.Y393Y|C16orf62_ENST00000543152.1_Silent_p.Y292Y|C16orf62_ENST00000542263.1_Silent_p.Y565Y			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	543						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AAGATTCCTACCCCCAGGTAA	0.408																																							uc002dgn.1		NA																	0				ovary(1)	1						c.(1627-1629)TAC>TAT		hypothetical protein LOC57020							180.0	169.0	173.0					16																	19644488		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19644488C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1629C>T	16.37:g.19644488C>T						C16orf62_uc002dgo.1_Silent_p.Y476Y|C16orf62_uc002dgp.1_Silent_p.Y292Y	p.Y543Y	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			19	1641	+			543					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.1629C>T																																																																																					0.408	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		30	59	0	0	0	0.002836	0	30	59				
METTL9	51108	broad.mit.edu	37	16	21623972	21623972	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:21623972G>A	ENST00000358154.3	+	2	430	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	METTL9_ENST00000396014.4_Missense_Mutation_p.V58M	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	58										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ttAGTGGTATGTGTGCAACAG	0.333																																							uc002dje.2		NA																	0				ovary(1)	1						c.(172-174)GTG>ATG		methyltransferase like 9 isoform 1							85.0	77.0	80.0					16																	21623972		2199	4300	6499	SO:0001583	missense	51108							g.chr16:21623972G>A	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.172G>A	16.37:g.21623972G>A	ENSP00000350874:p.Val58Met					uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.V58M	p.V58M	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	2	371	+			58					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	c.172G>A	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569400	0.28003	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.02	5.07	0.68467	.	0.363420	0.32769	N	0.005680	T	0.25232	0.0613	N	0.08118	0	0.31267	N	0.692172	B;B	0.26809	0.012;0.16	B;B	0.33521	0.007;0.165	T	0.24225	-1.0166	9	0.45353	T	0.12	-2.4869	8.2228	0.31552	0.0786:0.0:0.7667:0.1547	.	58;58	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	M	58;58;22	.	ENSP00000350874:V58M	V	+	1	0	METTL9	21531473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.893000	0.48633	1.561000	0.49584	0.655000	0.94253	GTG		0.333	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		10	22	0	0	0	0.006214	0	10	22				
OTOA	146183	broad.mit.edu	37	16	21716560	21716560	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:21716560T>A	ENST00000286149.4	+	11	1094	c.1093T>A	c.(1093-1095)Tac>Aac	p.Y365N	OTOA_ENST00000388957.3_Missense_Mutation_p.Y27N|OTOA_ENST00000388958.3_Missense_Mutation_p.Y351N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388956.4_Missense_Mutation_p.Y272N			Q7RTW8	OTOAN_HUMAN	otoancorin	365					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGTCCTGCTTTACCAGATGAT	0.572																																							uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1051-1053)TAC>AAC		otoancorin isoform 1							106.0	97.0	100.0					16																	21716560		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21716560T>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1093T>A	16.37:g.21716560T>A	ENSP00000286149:p.Tyr365Asn					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.Y272N|OTOA_uc002dji.2_Missense_Mutation_p.Y27N|OTOA_uc010vbk.1_5'UTR	p.Y351N	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	11	1052	+			365					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1051T>A		.	.	.	.	.	.	.	.	.	.	T	14.20	2.464165	0.43736	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.76186	2.62;-1.0;2.62;-1.0	5.3	3.33	0.38152	.	0.181068	0.48767	D	0.000175	T	0.54029	0.1833	N	0.08118	0	0.23653	N	0.997197	B;B;B	0.15141	0.012;0.003;0.012	B;B;B	0.20577	0.03;0.013;0.03	T	0.49234	-0.8961	10	0.51188	T	0.08	-8.0489	10.3532	0.43948	0.0:0.8358:0.0:0.1642	.	272;27;351	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	N	351;365;272;27	ENSP00000373610:Y351N;ENSP00000286149:Y365N;ENSP00000373608:Y272N;ENSP00000373609:Y27N	ENSP00000286149:Y365N	Y	+	1	0	OTOA	21624061	0.998000	0.40836	0.994000	0.49952	0.968000	0.65278	2.996000	0.49449	0.604000	0.29930	-0.252000	0.11476	TAC		0.572	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			31	50	0	0	0	0.002096	0	31	50				
CD19	930	broad.mit.edu	37	16	28947869	28947869	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:28947869C>A	ENST00000324662.3	+	7	1076	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	CD19_ENST00000538922.1_Silent_p.P344P|CD19_ENST00000567541.1_Silent_p.P344P			P15391	CD19_HUMAN	CD19 molecule	344					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAAGCGGGCCCCAGAACCAGT	0.637																																							uc002drs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1030-1032)CCC>CCA		CD19 antigen precursor							59.0	58.0	58.0					16																	28947869		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28947869C>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1032C>A	16.37:g.28947869C>A						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.P344P	p.P344P	NM_001770	NP_001761	P15391	CD19_HUMAN			7	1094	+			344			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.1032C>A	CCDS10644.1																																																																																				0.637	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			12	57	1	0	1.5842e-08	0.001855	2.31593e-08	12	57				
SALL1	6299	broad.mit.edu	37	16	51171110	51171110	+	Silent	SNP	G	G	C	rs535455041		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:51171110G>C	ENST00000251020.4	-	3	3921	c.3888C>G	c.(3886-3888)ggC>ggG	p.G1296G	SALL1_ENST00000541611.1_Silent_p.G119G|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.G1199G	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1296					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCTCCAGGCCGGCCAGGG	0.587																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3886-3888)GGC>GGG		sal-like 1 isoform a							74.0	68.0	70.0					16																	51171110		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171110G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3888C>G	16.37:g.51171110G>C						SALL1_uc010vgr.1_Silent_p.G1199G|SALL1_uc010cbv.2_Silent_p.G148G	p.G1296G	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3919	-		all_cancers(37;0.0322)	1296					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3888C>G	CCDS10747.1																																																																																				0.587	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	38	0	0	0	0.003163	0	16	38				
HYDIN	54768	broad.mit.edu	37	16	70908286	70908286	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:70908286G>T	ENST00000393567.2	-	64	11020	c.10870C>A	c.(10870-10872)Ccc>Acc	p.P3624T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3624					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCTGGTGGGGGCCACCAGT	0.502																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(10867-10869)CCC>ACC		hydrocephalus inducing isoform a							45.0	53.0	51.0					16																	70908286		1904	4104	6008	SO:0001583	missense	54768							g.chr16:70908286G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10870C>A	16.37:g.70908286G>T	ENSP00000377197:p.Pro3624Thr						p.P3623T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			64	10995	-		Ovarian(137;0.0654)	3624					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10867C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	7.451	0.642668	0.14451	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.71	-4.23	0.03789	.	1.007180	0.08014	U	0.990849	T	0.00468	0.0015	N	0.08118	0	0.09310	N	0.999996	B	0.09022	0.002	B	0.11329	0.006	T	0.47446	-0.9117	10	0.11182	T	0.66	.	0.2478	0.00201	0.3214:0.1553:0.2584:0.2648	.	3623	F8WD23	.	T	3624;3623	ENSP00000377197:P3624T	ENSP00000313052:P3623T	P	-	1	0	HYDIN	69465787	0.030000	0.19436	0.001000	0.08648	0.003000	0.03518	-1.110000	0.03306	-0.443000	0.07180	-0.350000	0.07774	CCC		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	50	1	0	3.45872e-05	0.004007	4.60682e-05	12	50				
HYDIN	54768	broad.mit.edu	37	16	71015345	71015345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:71015345C>A	ENST00000393567.2	-	29	4609	c.4459G>T	c.(4459-4461)Gga>Tga	p.G1487*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1487					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCCCTCTCCGCTCAGAGTG	0.478																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(4456-4458)GGA>TGA		hydrocephalus inducing isoform a							54.0	54.0	54.0					16																	71015345		1825	4062	5887	SO:0001587	stop_gained	54768							g.chr16:71015345C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4459G>T	16.37:g.71015345C>A	ENSP00000377197:p.Gly1487*						p.G1486*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			29	4584	-		Ovarian(137;0.0654)	1487					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.4456G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	45	12.014960	0.99627	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.26	4.26	0.50523	.	0.000000	0.32548	U	0.005945	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.6224	0.84934	0.0:1.0:0.0:0.0	.	.	.	.	X	1487;1486	.	ENSP00000313052:G1486X	G	-	1	0	HYDIN	69572846	1.000000	0.71417	0.937000	0.37676	0.989000	0.77384	7.230000	0.78097	2.083000	0.62718	0.603000	0.83216	GGA		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			18	39	1	0	7.16444e-05	0.003954	9.43777e-05	18	39				
CHST4	10164	broad.mit.edu	37	16	71571596	71571596	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:71571596C>A	ENST00000338482.5	+	3	1359	c.1016C>A	c.(1015-1017)cCc>cAc	p.P339H	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.P339H|CHST4_ENST00000539698.3_Missense_Mutation_p.P339H|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	339					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGTCTTTGCCCTATGAAAAG	0.527											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002fan.2		NA																	0					0						c.(1015-1017)CCC>CAC		carbohydrate (N-acetylglucosamine 6-O)							66.0	58.0	61.0					16																	71571596		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571596C>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1016C>A	16.37:g.71571596C>A	ENSP00000341206:p.Pro339His		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Missense_Mutation_p.P339H	p.P339H	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1197	+			339			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.1016C>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163354	0.78226	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82619	-1.63;-1.63	6.17	6.17	0.99709	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	M	0.88979	2.995	0.47407	D	0.999412	D	0.89917	1.0	D	0.87578	0.998	D	0.93183	0.6576	10	0.87932	D	0	-25.9004	18.3732	0.90420	0.0:1.0:0.0:0.0	.	339	Q8NCG5	CHST4_HUMAN	H	339	ENSP00000341206:P339H;ENSP00000441204:P339H	ENSP00000341206:P339H	P	+	2	0	CHST4	70129097	0.998000	0.40836	0.989000	0.46669	0.869000	0.49853	3.848000	0.55903	2.941000	0.99782	0.655000	0.94253	CCC		0.527	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		10	20	1	0	1.76689e-08	0.006214	2.57515e-08	10	20				
GLG1	2734	broad.mit.edu	37	16	74516969	74516969	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:74516969C>G	ENST00000422840.2	-	10	1624	c.1625G>C	c.(1624-1626)tGt>tCt	p.C542S	GLG1_ENST00000447066.2_Missense_Mutation_p.C531S|GLG1_ENST00000205061.5_Missense_Mutation_p.C542S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	542					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGGTGTTCACAGTCTTCTAC	0.413																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(1624-1626)TGT>TCT		golgi apparatus protein 1 isoform 3							140.0	133.0	135.0					16																	74516969		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74516969C>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1625G>C	16.37:g.74516969C>G	ENSP00000405984:p.Cys542Ser					GLG1_uc002fcx.2_Missense_Mutation_p.C542S|GLG1_uc002fcw.3_Missense_Mutation_p.C531S|GLG1_uc002fcz.3_Intron	p.C542S	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			10	1675	-			542			Extracellular (Potential).|Cys-rich GLG1 8.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1625G>C	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676736	0.88445	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.78049	2.395	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	0.82651	-0.0352	9	0.87932	D	0	-3.3848	15.2978	0.73922	0.0:0.9333:0.0:0.0667	.	542;542;531	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	S	542;531;542	.	ENSP00000205061:C542S	C	-	2	0	GLG1	73074470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.731000	0.84895	1.557000	0.49525	0.655000	0.94253	TGT		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		28	37	0	0	0	0.003755	0	28	37				
CHST5	23563	broad.mit.edu	37	16	75563627	75563627	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:75563627A>G	ENST00000336257.3	-	3	2050	c.656T>C	c.(655-657)aTc>aCc	p.I219T	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.I225T	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	219					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGGTGCACGATGCGCAGGTT	0.706																																							uc002fei.2		NA																	0					0						c.(655-657)ATC>ACC		carbohydrate (N-acetylglucosamine 6-O)							45.0	49.0	48.0					16																	75563627		2197	4299	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563627A>G	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.656T>C	16.37:g.75563627A>G	ENSP00000338783:p.Ile219Thr					CHST5_uc002fej.1_Missense_Mutation_p.I225T	p.I219T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2051	-			219			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.656T>C	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210082	0.39003	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.85556	-2.0;-2.0	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.054428	0.64402	D	0.000001	D	0.91509	0.7319	M	0.85462	2.755	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.978;0.987	D	0.91667	0.5347	10	0.72032	D	0.01	.	10.0936	0.42462	1.0:0.0:0.0:0.0	.	225;219	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	T	219;225	ENSP00000338783:I219T;ENSP00000441220:I225T	ENSP00000338783:I219T	I	-	2	0	CHST5	74121128	1.000000	0.71417	0.999000	0.59377	0.038000	0.13279	8.717000	0.91425	1.296000	0.44742	0.260000	0.18958	ATC		0.706	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		21	37	0	0	0	0.001523	0	21	37				
OSGIN1	29948	broad.mit.edu	37	16	83999445	83999445	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:83999445A>G	ENST00000343939.2	+	7	1899	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	OSGIN1_ENST00000361711.3_Missense_Mutation_p.K423E|OSGIN1_ENST00000393306.1_Missense_Mutation_p.K423E|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	506					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GCTGAGCGCCAAGAGGAACCC	0.662																																							uc002fha.2		NA																	0					0						c.(1516-1518)AAG>GAG		oxidative stress induced growth inhibitor 1							51.0	50.0	50.0					16																	83999445		2200	4298	6498	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999445A>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1516A>G	16.37:g.83999445A>G	ENSP00000343376:p.Lys506Glu					NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Missense_Mutation_p.K423E|OSGIN1_uc002fhc.2_Missense_Mutation_p.K423E	p.K506E	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1899	+			506					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1516A>G		.	.	.	.	.	.	.	.	.	.	A	16.70	3.195063	0.58017	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.38722	1.12;1.12;1.12	4.56	3.44	0.39384	.	0.104403	0.64402	D	0.000005	T	0.51822	0.1697	M	0.82323	2.585	0.80722	D	1	D	0.58268	0.982	P	0.48815	0.591	T	0.55029	-0.8204	10	0.48119	T	0.1	-22.3961	10.6048	0.45388	0.8386:0.1614:0.0:0.0	.	506	Q9UJX0	OSGI1_HUMAN	E	506;423;423	ENSP00000343376:K506E;ENSP00000355374:K423E;ENSP00000376983:K423E	ENSP00000343376:K506E	K	+	1	0	OSGIN1	82556946	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.043000	0.49823	0.569000	0.29329	0.260000	0.18958	AAG		0.662	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		33	17	0	0	0	0.00623	0	33	17				
PITPNM3	83394	broad.mit.edu	37	17	6364774	6364774	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:6364774C>A	ENST00000262483.8	-	18	2496	c.2409G>T	c.(2407-2409)caG>caT	p.Q803H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.Q767H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	803					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGATCATGCCCTGTGGGAAGT	0.607																																							uc002gdd.3		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2407-2409)CAG>CAT		PITPNM family member 3 isoform 1							177.0	159.0	165.0					17																	6364774		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6364774C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2409G>T	17.37:g.6364774C>A	ENSP00000262483:p.Gln803His					PITPNM3_uc010cln.2_Missense_Mutation_p.Q767H|PITPNM3_uc010clm.2_Missense_Mutation_p.Q286H|PITPNM3_uc002gdc.3_Missense_Mutation_p.Q394H	p.Q803H	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	18	2560	-			803					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2409G>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	2.886	-0.230755	0.05983	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76316	-1.01;-1.01	4.94	3.87	0.44632	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.060057	0.64402	D	0.000002	T	0.33673	0.0871	N	0.00151	-1.98	0.42742	D	0.993741	B;B	0.15930	0.001;0.015	B;B	0.15052	0.002;0.012	T	0.54275	-0.8318	10	0.02654	T	1	.	7.9795	0.30175	0.0:0.8427:0.0:0.1573	.	767;803	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	803;767	ENSP00000262483:Q803H;ENSP00000407882:Q767H	ENSP00000262483:Q803H	Q	-	3	2	PITPNM3	6305498	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	0.313000	0.19415	2.293000	0.77203	0.462000	0.41574	CAG		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		76	19	1	0	3.00167e-28	0.00361	6.073e-28	76	19				
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:7577129A>C	ENST00000269305.4	-	8	998	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270C|TP53_ENST00000445888.2_Missense_Mutation_p.F270C	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	0.537		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		48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(808-810)TTT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	50.0	53.0					17																	7577129		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577129A>C	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.809T>G	17.37:g.7577129A>C	ENSP00000269305:p.Phe270Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138C|TP53_uc010cng.1_Missense_Mutation_p.F138C|TP53_uc002gii.1_Missense_Mutation_p.F138C|TP53_uc010cnh.1_Missense_Mutation_p.F270C|TP53_uc010cni.1_Missense_Mutation_p.F270C|TP53_uc002gij.2_Missense_Mutation_p.F270C	p.F270C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1003	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	270		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.809T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931796	0.73442	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.75085	2.285	0.58432	D	0.999998	D;P;D;D	0.89917	1.0;0.711;1.0;1.0	D;P;D;D	0.91635	0.999;0.448;0.999;0.999	D	0.97007	0.9733	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	270;270;270;270;270;259;138	ENSP00000352610:F270C;ENSP00000269305:F270C;ENSP00000398846:F270C;ENSP00000391127:F270C;ENSP00000391478:F270C;ENSP00000425104:F138C	ENSP00000269305:F270C	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	6	0	0	0	0.006214	0	10	6				
DNAH2	146754	broad.mit.edu	37	17	7689630	7689630	+	Silent	SNP	C	C	T	rs150195626		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:7689630C>T	ENST00000572933.1	+	40	7778	c.6318C>T	c.(6316-6318)cgC>cgT	p.R2106R	DNAH2_ENST00000389173.2_Silent_p.R2106R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2106	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTGTGCCGCGCCGGAGACC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16458	0.0		0.0	False		,,,				2504	0.0						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(6316-6318)CGC>CGT		dynein heavy chain domain 3		C		1,4405	2.1+/-5.4	0,1,2202	45.0	44.0	44.0		6318	-10.4	0.1	17	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2106/4428	7689630	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7689630C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6318C>T	17.37:g.7689630C>T							p.R2106R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			39	6332	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2106			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.6318C>T	CCDS32551.1																																																																																				0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		8	18	0	0	0	0.006214	0	8	18				
MYH1	4619	broad.mit.edu	37	17	10404699	10404699	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10404699C>T	ENST00000226207.5	-	27	3560	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1156					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACCGGCTTCTTCCAGCCTC	0.622																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3466-3468)GAA>AAA		myosin, heavy chain 1, skeletal muscle, adult							72.0	82.0	79.0					17																	10404699		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404699C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3466G>A	17.37:g.10404699C>T	ENSP00000226207:p.Glu1156Lys					uc002gml.1_Intron	p.E1156K	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3560	-			1156			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3466G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466677	0.96257	.	.	ENSG00000109061	ENST00000226207	D	0.84223	-1.82	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.44285	U	0.000466	D	0.95611	0.8573	H	0.97962	4.115	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.96905	0.9663	10	0.87932	D	0	.	19.7865	0.96442	0.0:1.0:0.0:0.0	.	1156	P12882	MYH1_HUMAN	K	1156	ENSP00000226207:E1156K	ENSP00000226207:E1156K	E	-	1	0	MYH1	10345424	1.000000	0.71417	0.966000	0.40874	0.949000	0.60115	7.682000	0.84083	2.751000	0.94390	0.650000	0.86243	GAA		0.622	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		83	21	0	0	0	0.00361	0	83	21				
MYH1	4619	broad.mit.edu	37	17	10406197	10406197	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10406197T>C	ENST00000226207.5	-	24	3063	c.2969A>G	c.(2968-2970)gAt>gGt	p.D990G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	990					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGGTTTCATCCAGACCCGC	0.512																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2968-2970)GAT>GGT		myosin, heavy chain 1, skeletal muscle, adult							195.0	183.0	187.0					17																	10406197		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406197T>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2969A>G	17.37:g.10406197T>C	ENSP00000226207:p.Asp990Gly					uc002gml.1_Intron	p.D990G	NM_005963	NP_005954	P12882	MYH1_HUMAN			24	3063	-			990			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2969A>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978613	0.74360	.	.	ENSG00000109061	ENST00000226207	D	0.90133	-2.62	5.24	5.24	0.73138	.	0.000000	0.44285	U	0.000467	D	0.91945	0.7449	M	0.87682	2.9	0.54753	D	0.999987	B	0.21225	0.053	B	0.24394	0.053	D	0.90538	0.4500	10	0.62326	D	0.03	.	15.4365	0.75152	0.0:0.0:0.0:1.0	.	990	P12882	MYH1_HUMAN	G	990	ENSP00000226207:D990G	ENSP00000226207:D990G	D	-	2	0	MYH1	10346922	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	7.943000	0.87716	2.117000	0.64856	0.455000	0.32223	GAT		0.512	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		48	107	0	0	0	0.00361	0	48	107				
MYH2	4620	broad.mit.edu	37	17	10426870	10426870	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10426870C>G	ENST00000245503.5	-	37	5799	c.5415G>C	c.(5413-5415)gaG>gaC	p.E1805D	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1805D|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1805					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTCAGCCTCATCCAGAC	0.567																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5413-5415)GAG>GAC		myosin heavy chain IIa							102.0	105.0	104.0					17																	10426870		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426870C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5415G>C	17.37:g.10426870C>G	ENSP00000245503:p.Glu1805Asp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1805D|MYH2_uc010coj.2_Intron	p.E1805D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			37	5543	-			1805			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5415G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231054	0.58777	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80994	-1.44;-1.44	5.5	3.49	0.39957	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.89413	0.6708	M	0.88704	2.975	0.42148	D	0.991544	D	0.89917	1.0	D	0.91635	0.999	D	0.89603	0.3836	10	0.51188	T	0.08	.	9.6161	0.39692	0.0:0.7867:0.0:0.2133	.	1805	Q9UKX2	MYH2_HUMAN	D	1805	ENSP00000245503:E1805D;ENSP00000380367:E1805D	ENSP00000245503:E1805D	E	-	3	2	MYH2	10367595	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.817000	0.27281	1.564000	0.49628	0.655000	0.94253	GAG		0.567	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		73	28	0	0	0	0.00361	0	73	28				
MYH2	4620	broad.mit.edu	37	17	10428110	10428110	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10428110G>A	ENST00000245503.5	-	34	5319	c.4935C>T	c.(4933-4935)gcC>gcT	p.A1645A	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.A1645A|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1645					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTTCCTCAGGGCCTCAGCAG	0.507																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4933-4935)GCC>GCT		myosin heavy chain IIa							195.0	175.0	182.0					17																	10428110		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428110G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4935C>T	17.37:g.10428110G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.A1645A|MYH2_uc010coj.2_Intron	p.A1645A	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			34	5063	-			1645			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4935C>T	CCDS11156.1																																																																																				0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		31	55	0	0	0	0.002096	0	31	55				
DNAH9	1770	broad.mit.edu	37	17	11772571	11772571	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:11772571G>C	ENST00000262442.4	+	51	10121		c.e51+1		DNAH9_ENST00000454412.2_Splice_Site	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)		CAACCGCCTGGTGAGTGTAAG	0.512																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e51+1		dynein, axonemal, heavy chain 9 isoform 2							77.0	70.0	72.0					17																	11772571		2203	4300	6503	SO:0001630	splice_region_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.chr17:11772571G>C	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.10053+1G>C	17.37:g.11772571G>C						DNAH9_uc010coo.2_Splice_Site_p.L2645_splice	p.L3351_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)	51	10121	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.10053_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968756	0.74131	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8373	0.88701	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH9	11713296	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.171000	0.94802	2.510000	0.84645	0.643000	0.83706	.		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	25	19	0	0	0	0.004656	0	25	19				
KIAA0100	9703	broad.mit.edu	37	17	26940477	26940477	+	IGR	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:26940477C>G	ENST00000528896.2	-	0	7407				SGK494_ENST00000301037.5_Missense_Mutation_p.R102T|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.R101T|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.R102T|SPAG5-AS1_ENST00000414744.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGCTGCCCCCTAATGGGCCT	0.522											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hbr.1		NA																	0					0						c.(304-306)AGG>ACG		uncharacterized serine/threonine-protein kinase							63.0	67.0	66.0					17																	26940477		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26940477C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940477C>G			OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	SGK494_uc010waq.1_Missense_Mutation_p.R102T|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	p.R102T	NM_144610	NP_653211					2	337	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.305G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943474	0.18281	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	4.9	-0.851	0.10716	Protein kinase-like domain (1);	0.705172	0.14279	N	0.329634	T	0.03520	0.0101	N	0.14661	0.345	0.23468	N	0.997617	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.002	T	0.40720	-0.9548	10	0.27082	T	0.32	-0.1178	1.977	0.03418	0.1306:0.4356:0.128:0.3058	.	102;102	E9PMD0;Q96LW2	.;SG494_HUMAN	T	102	ENSP00000431165:R102T;ENSP00000436369:R102T;ENSP00000301037:R102T;ENSP00000437573:R102T;ENSP00000434603:R102T	ENSP00000301037:R102T	R	-	2	0	AC005726.6;RP11-192H23.4	23964604	0.001000	0.12720	0.499000	0.27577	0.995000	0.86356	0.110000	0.15437	-0.034000	0.13713	0.563000	0.77884	AGG		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		12	62	0	0	0	0.00245	0	12	62				
NF1	4763	broad.mit.edu	37	17	29553455	29553455	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:29553455T>C	ENST00000358273.4	+	18	2387	c.2004T>C	c.(2002-2004)gaT>gaC	p.D668D	NF1_ENST00000356175.3_Silent_p.D668D	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	668					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTCTCAGGATAGTGCAGCAG	0.458			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(2002-2004)GAT>GAC		neurofibromin isoform 1							41.0	46.0	45.0					17																	29553455		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553455T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2004T>C	17.37:g.29553455T>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Silent_p.D668D|NF1_uc010csn.1_Silent_p.D528D|NF1_uc002hgi.1_5'UTR	p.D668D	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2337	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	668					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2004T>C	CCDS42292.1																																																																																				0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		9	14	0	0	0	0.006214	0	9	14				
CCL7	6354	broad.mit.edu	37	17	32597371	32597371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:32597371G>T	ENST00000378569.2	+	1	132	c.62G>T	c.(61-63)gGg>gTg	p.G21V	CCL7_ENST00000394630.3_Missense_Mutation_p.G21V|CCL7_ENST00000394627.1_Missense_Mutation_p.G21V|CCL7_ENST00000200307.4_Missense_Mutation_p.G31V	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	21					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCCCCAGGGGCTTGCTCAG	0.557																																							uc002hhz.2		NA																	0				ovary(1)	1						c.(61-63)GGG>GTG		chemokine (C-C motif) ligand 7 precursor							75.0	67.0	70.0					17																	32597371		2203	4300	6503	SO:0001583	missense	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597371G>T	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.62G>T	17.37:g.32597371G>T	ENSP00000367832:p.Gly21Val					CCL7_uc010ctf.2_RNA	p.G21V	NM_006273	NP_006264	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	1	132	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	21					Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	c.62G>T	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237544	0.10023	.	.	ENSG00000108688	ENST00000378569;ENST00000200307;ENST00000394630;ENST00000394627	.	.	.	4.28	2.03	0.26663	.	0.591957	0.13882	N	0.356237	T	0.15522	0.0374	.	.	.	0.09310	N	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.31110	-0.9955	8	0.08837	T	0.75	.	4.6062	0.12378	0.0:0.1175:0.2826:0.5999	.	21	P80098	CCL7_HUMAN	V	31;21;31;31	.	ENSP00000200307:G21V	G	+	2	0	CCL7	29621484	0.001000	0.12720	0.001000	0.08648	0.018000	0.09664	0.372000	0.20467	0.311000	0.23014	0.650000	0.86243	GGG		0.557	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		9	18	1	0	0.000442599	0.006214	0.000570501	9	18				
LHX1	3975	broad.mit.edu	37	17	35300422	35300422	+	Silent	SNP	G	G	T	rs368870359		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:35300422G>T	ENST00000254457.5	+	5	2626	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	405					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCGGCCGTGTGGTAGCGGG	0.527																																							uc002hnh.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1213-1215)GTG>GTT		LIM homeobox protein 1							15.0	16.0	15.0					17																	35300422		2181	4257	6438	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35300422G>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1215G>T	17.37:g.35300422G>T							p.V405V	NM_005568	NP_005559	P48742	LHX1_HUMAN			5	2211	+		Breast(25;0.00607)	405					Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.1215G>T	CCDS11316.1																																																																																				0.527	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		12	5	1	0	9.31168e-06	0.001855	1.26129e-05	12	5				
LASP1	3927	broad.mit.edu	37	17	37070622	37070622	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:37070622C>G	ENST00000318008.6	+	5	733	c.402C>G	c.(400-402)agC>agG	p.S134R	LASP1_ENST00000435347.3_Missense_Mutation_p.S134R|LASP1_ENST00000433206.2_Missense_Mutation_p.S78R	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	134					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TGGGCCCTAGCGGGGGCGAGG	0.612			T	MLL	AML																																		uc002hra.2		NA		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				lung(1)	1						c.(400-402)AGC>AGG		LIM and SH3 protein 1							27.0	31.0	29.0					17																	37070622		2203	4299	6502	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37070622C>G		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.402C>G	17.37:g.37070622C>G	ENSP00000325240:p.Ser134Arg					LASP1_uc010cvq.2_Missense_Mutation_p.A12G|LASP1_uc010wdz.1_Missense_Mutation_p.S78R	p.S134R	NM_006148	NP_006139	Q14847	LASP1_HUMAN			5	733	+			134					B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.402C>G	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631353	0.46944	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	T;T;T;T	0.38077	1.25;1.16;1.25;2.73	5.24	-7.33	0.01431	.	0.170140	0.48286	D	0.000191	T	0.15955	0.0384	N	0.14661	0.345	0.27439	N	0.953761	B;P	0.37824	0.14;0.609	B;B	0.36504	0.061;0.226	T	0.14811	-1.0459	10	0.12766	T	0.61	.	15.6515	0.77099	0.0:0.3731:0.0:0.6269	.	78;134	B4DGQ0;Q14847	.;LASP1_HUMAN	R	134;78;134;98	ENSP00000325240:S134R;ENSP00000401048:S78R;ENSP00000392853:S134R;ENSP00000391897:S98R	ENSP00000325240:S134R	S	+	3	2	LASP1	34324148	0.001000	0.12720	0.648000	0.29521	0.928000	0.56348	-1.818000	0.01717	-1.381000	0.02112	-0.219000	0.12488	AGC		0.612	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		11	6	0	0	0	0.003163	0	11	6				
STARD3	10948	broad.mit.edu	37	17	37813294	37813294	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:37813294G>A	ENST00000336308.5	+	3	471	c.253G>A	c.(253-255)Gag>Aag	p.E85K	STARD3_ENST00000580611.1_Intron|STARD3_ENST00000544210.2_Missense_Mutation_p.E85K|STARD3_ENST00000394250.4_Missense_Mutation_p.E85K|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	85	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTGGAGCAGGAGATCATCCA	0.557																																							uc002hsd.2		NA																	0					0						c.(253-255)GAG>AAG		StAR-related lipid transfer (START) domain							141.0	125.0	131.0					17																	37813294		2203	4300	6503	SO:0001583	missense	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37813294G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.253G>A	17.37:g.37813294G>A	ENSP00000337446:p.Glu85Lys					STARD3_uc010weg.1_Missense_Mutation_p.E85K|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.E85K|STARD3_uc010wei.1_Missense_Mutation_p.E85K|STARD3_uc002hsf.2_5'UTR|STARD3_uc002hsg.2_5'Flank	p.E85K	NM_006804	NP_006795	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	377	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		85			Extracellular (Potential).|MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.253G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224370	0.58668	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.43	4.43	0.53597	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.995;1.0	D;D;D;D	0.91635	0.99;0.995;0.983;0.999	T	0.78081	-0.2343	10	0.66056	D	0.02	.	16.4129	0.83725	0.0:0.0:1.0:0.0	.	85;85;85;85	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	K	85	ENSP00000337446:E85K;ENSP00000439869:E85K;ENSP00000377794:E85K;ENSP00000411710:E85K	ENSP00000337446:E85K	E	+	1	0	STARD3	35066820	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.564000	0.90726	2.159000	0.67721	0.655000	0.94253	GAG		0.557	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			30	23	0	0	0	0.003755	0	30	23				
TOP2A	7153	broad.mit.edu	37	17	38555031	38555031	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:38555031A>C	ENST00000423485.1	-	26	3605	c.3447T>G	c.(3445-3447)aaT>aaG	p.N1149K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1149					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCACTTTTTCATTTCTTAGCC	0.363																																							uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3445-3447)AAT>AAG		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						214.0	188.0	196.0					17																	38555031		1857	4104	5961	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38555031A>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3447T>G	17.37:g.38555031A>C	ENSP00000411532:p.Asn1149Lys						p.N1149K	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		26	3573	-		Breast(137;0.00328)	1149					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.3447T>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324107	0.41197	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.20598	2.06	5.7	-2.69	0.06022	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.281892	0.44097	N	0.000484	T	0.09069	0.0224	N	0.11756	0.17	0.29490	N	0.855695	B	0.06786	0.001	B	0.12156	0.007	T	0.15896	-1.0421	10	0.30854	T	0.27	.	8.1982	0.31409	0.4245:0.4503:0.1252:0.0	.	1149	P11388	TOP2A_HUMAN	K	1149;1229;1172;1185	ENSP00000411532:N1149K	ENSP00000269577:N1229K	N	-	3	2	TOP2A	35808557	0.040000	0.19996	0.846000	0.33378	0.891000	0.51852	0.305000	0.19254	-0.883000	0.03982	-0.321000	0.08615	AAT		0.363	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			16	63	0	0	0	0.008871	0	16	63				
KRTAP9-2	83899	broad.mit.edu	37	17	39383101	39383101	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:39383101C>G	ENST00000377721.3	+	1	202	c.195C>G	c.(193-195)acC>acG	p.T65T	KRTAP9-2_ENST00000455970.2_Silent_p.T65T	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	65	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTAGGACCACCTGCTGCCAGC	0.652																																							uc002hwf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(193-195)ACC>ACG		keratin associated protein 9.2							61.0	54.0	56.0					17																	39383101		2203	4299	6502	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383101C>G	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.195C>G	17.37:g.39383101C>G							p.T65T	NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	202	+		Breast(137;0.000496)	65			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|7.		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.195C>G	CCDS32651.1																																																																																				0.652	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			46	45	0	0	0	0.00361	0	46	45				
CNTNAP1	8506	broad.mit.edu	37	17	40838982	40838982	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:40838982G>A	ENST00000264638.4	+	7	1179	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	321	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CATAACTTCCGCGGCTGCATA	0.632																																							uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(961-963)CGC>CAC		contactin associated protein 1 precursor							42.0	38.0	40.0					17																	40838982		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40838982G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.962G>A	17.37:g.40838982G>A	ENSP00000264638:p.Arg321His					CNTNAP1_uc010wgs.1_RNA	p.R321H	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	7	1178	+		Breast(137;0.000143)	321			Laminin G-like 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.962G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	7.332	0.619068	0.14129	.	.	ENSG00000108797	ENST00000264638	T	0.78595	-1.19	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000003	D	0.82282	0.5003	L	0.38953	1.18	0.43569	D	0.995897	D	0.76494	0.999	D	0.73380	0.98	T	0.77313	-0.2634	10	0.17832	T	0.49	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	321	P78357	CNTP1_HUMAN	H	321	ENSP00000264638:R321H	ENSP00000264638:R321H	R	+	2	0	CNTNAP1	38092508	1.000000	0.71417	0.963000	0.40424	0.749000	0.42624	3.611000	0.54132	2.588000	0.87417	0.561000	0.74099	CGC		0.632	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		26	13	0	0	0	0.004656	0	26	13				
PLEKHM1	9842	broad.mit.edu	37	17	43545941	43545941	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:43545941G>C	ENST00000430334.3	-	5	1075	c.942C>G	c.(940-942)agC>agG	p.S314R	RN7SL730P_ENST00000583727.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S225R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	314					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTGGGCTTTGCTGAATTCCA	0.512																																							uc002ija.2		NA																	0					0						c.(940-942)AGC>AGG		pleckstrin homology domain containing, family M							112.0	115.0	114.0					17																	43545941		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545941G>C	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.942C>G	17.37:g.43545941G>C	ENSP00000389913:p.Ser314Arg					PLEKHM1_uc010wjm.1_Missense_Mutation_p.S286R|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S263R	p.S314R	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			5	1112	-	Renal(3;0.0405)		314					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.942C>G	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566032	0.27915	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.65549	-0.15;-0.16	4.69	4.69	0.59074	.	0.778649	0.12529	N	0.460925	T	0.52273	0.1724	L	0.39633	1.23	0.29586	N	0.848784	B;B	0.19583	0.037;0.01	B;B	0.21917	0.037;0.007	T	0.40813	-0.9543	10	0.12430	T	0.62	.	13.2989	0.60313	0.0:0.0:1.0:0.0	.	225;314	F8W648;Q9Y4G2	.;PKHM1_HUMAN	R	314;263;225	ENSP00000389913:S314R;ENSP00000414352:S225R	ENSP00000414352:S225R	S	-	3	2	PLEKHM1	40901724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.676000	0.54612	2.592000	0.87571	0.655000	0.94253	AGC		0.512	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		27	39	0	0	0	0.001786	0	27	39				
KIF2B	84643	broad.mit.edu	37	17	51900476	51900476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:51900476G>T	ENST00000268919.4	+	1	238	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	28					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACATCCAAGAGGGCATCTA	0.557																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(82-84)GAG>TAG		kinesin family member 2B							106.0	90.0	95.0					17																	51900476		2203	4300	6503	SO:0001587	stop_gained	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900476G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.82G>T	17.37:g.51900476G>T	ENSP00000268919:p.Glu28*						p.E28*	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	238	+			28					Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	c.82G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647561	0.47258	.	.	ENSG00000141200	ENST00000268919	.	.	.	4.96	1.87	0.25490	.	1.088120	0.07212	N	0.859435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9915	0.14216	0.1834:0.3387:0.4779:0.0	.	.	.	.	X	28	.	ENSP00000268919:E28X	E	+	1	0	KIF2B	49255475	0.006000	0.16342	0.042000	0.18584	0.114000	0.19823	0.942000	0.29017	0.766000	0.33244	0.655000	0.94253	GAG		0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		28	6	1	0	4.87955e-14	0.005443	8.0542e-14	28	6				
KIF2B	84643	broad.mit.edu	37	17	51900892	51900892	+	Silent	SNP	G	G	T	rs376639270		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:51900892G>T	ENST00000268919.4	+	1	654	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	166					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGCGGCTGCAGCAGGAGA	0.547																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(496-498)CTG>CTT		kinesin family member 2B							57.0	59.0	58.0					17																	51900892		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900892G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.498G>T	17.37:g.51900892G>T						uc010wna.1_RNA	p.L166L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	654	+			166			Potential.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.498G>T	CCDS32685.1																																																																																				0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		46	20	1	0	7.05377e-20	0.00361	1.31606e-19	46	20				
CUEDC1	404093	broad.mit.edu	37	17	55950055	55950055	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:55950055C>G	ENST00000577830.1	-	5	1166	c.753G>C	c.(751-753)cgG>cgC	p.R251R	CUEDC1_ENST00000407144.2_Silent_p.R251R|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000577840.1_Silent_p.R114R|CUEDC1_ENST00000360238.2_Silent_p.R251R	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	251										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGTCGCGGTTCCGTTGCAGCT	0.622																																							uc002ivd.1		NA																	0				skin(2)	2						c.(751-753)CGG>CGC		CUE domain-containing 1							68.0	54.0	59.0					17																	55950055		2203	4300	6503	SO:0001819	synonymous_variant	404093							g.chr17:55950055C>G	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.753G>C	17.37:g.55950055C>G						CUEDC1_uc002ive.1_Silent_p.R251R	p.R251R	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN			5	1472	-			251					D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	c.753G>C	CCDS11599.1																																																																																				0.622	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		12	38	0	0	0	0.001368	0	12	38				
BCAS3	54828	broad.mit.edu	37	17	58987935	58987935	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:58987935C>G	ENST00000390652.5	+	12	896	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	BCAS3_ENST00000588874.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q289E|BCAS3_ENST00000589222.1_Missense_Mutation_p.Q289E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q289E|BCAS3_ENST00000585744.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q289E	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTGGTGACTCAGCTGACAGG	0.443																																							uc002iyv.3		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(865-867)CAG>GAG		breast carcinoma amplified sequence 3 isoform 1							110.0	110.0	110.0					17																	58987935		2041	4201	6242	SO:0001583	missense	54828					nucleus		g.chr17:58987935C>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.865C>G	17.37:g.58987935C>G	ENSP00000375067:p.Gln289Glu					BCAS3_uc010wow.1_Missense_Mutation_p.Q76E|BCAS3_uc002iyu.3_Missense_Mutation_p.Q289E|BCAS3_uc002iyw.3_Missense_Mutation_p.Q285E|BCAS3_uc002iyx.1_Missense_Mutation_p.Q104E|BCAS3_uc002iyy.3_Missense_Mutation_p.Q60E	p.Q289E	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		12	974	+			289						Missense_Mutation	SNP	ENST00000390652.5	37	c.865C>G	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572966	0.45798	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.28069	1.63;1.63;1.63	5.7	5.7	0.88788	.	0.052351	0.85682	D	0.000000	T	0.27900	0.0687	L	0.51422	1.61	0.54753	D	0.999988	B;B;B;P;P	0.37708	0.406;0.138;0.392;0.606;0.541	B;B;B;B;B	0.34931	0.094;0.12;0.124;0.136;0.192	T	0.09930	-1.0652	10	0.05833	T	0.94	.	19.8212	0.96595	0.0:1.0:0.0:0.0	.	80;94;289;289;289	B4E3M9;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	E	289;289;289;289;81;94	ENSP00000375067:Q289E;ENSP00000385323:Q289E;ENSP00000386173:Q289E	ENSP00000353336:Q81E	Q	+	1	0	BCAS3	56342717	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.469000	0.80959	2.694000	0.91930	0.650000	0.86243	CAG		0.443	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		19	53	0	0	0	0.007413	0	19	53				
BRIP1	83990	broad.mit.edu	37	17	59878764	59878764	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:59878764C>T	ENST00000259008.2	-	8	1257	c.990G>A	c.(988-990)ggG>ggA	p.G330G	BRIP1_ENST00000577598.1_Silent_p.G330G	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	330	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTGCACATCCCTTGGAAAG	0.393			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(988-990)GGG>GGA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							166.0	166.0	166.0					17																	59878764		2203	4300	6503	SO:0001819	synonymous_variant	83990	FanconAnemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59878764C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.990G>A	17.37:g.59878764C>T							p.G330G	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			8	1131	-			330			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.990G>A	CCDS11631.1																																																																																				0.393	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		72	54	0	0	0	0.00361	0	72	54				
MED13	9969	broad.mit.edu	37	17	60072552	60072552	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:60072552A>C	ENST00000397786.2	-	10	2218	c.2142T>G	c.(2140-2142)gaT>gaG	p.D714E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	714					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTTTGTCTATCTTTTTTAT	0.358																																							uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2140-2142)GAT>GAG		mediator complex subunit 13							185.0	160.0	168.0					17																	60072552		1824	4071	5895	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072552A>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2142T>G	17.37:g.60072552A>C	ENSP00000380888:p.Asp714Glu						p.D714E	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			10	2219	-			714					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2142T>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	7.543	0.661064	0.14645	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73152	-0.72	5.32	1.74	0.24563	.	0.096031	0.64402	D	0.000001	T	0.36358	0.0964	N	0.10809	0.05	0.46044	D	0.998834	B	0.25719	0.132	B	0.18263	0.021	T	0.33803	-0.9854	10	0.02654	T	1	-28.7843	1.2072	0.01897	0.4732:0.1465:0.2385:0.1418	.	714	Q9UHV7	MED13_HUMAN	E	714;713	ENSP00000380888:D714E	ENSP00000262436:D713E	D	-	3	2	MED13	57427334	0.014000	0.17966	1.000000	0.80357	0.993000	0.82548	-0.965000	0.03829	0.967000	0.38186	0.455000	0.32223	GAT		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		13	61	0	0	0	0.004007	0	13	61				
LRRC37A3	374819	broad.mit.edu	37	17	62856235	62856235	+	Silent	SNP	C	C	T	rs555242552	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:62856235C>T	ENST00000584306.1	-	11	4559	c.4029G>A	c.(4027-4029)ccG>ccA	p.P1343P	LRRC37A3_ENST00000339474.5_Silent_p.P461P|LRRC37A3_ENST00000319651.5_Silent_p.P1343P|LRRC37A3_ENST00000334962.5_Silent_p.P320P|LRRC37A3_ENST00000400877.3_Silent_p.P381P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1343						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGCAGAGAACGGAAGCCTGT	0.463													C|||	6	0.00119808	0.0	0.0	5008	,	,		17318	0.0		0.0	False		,,,				2504	0.0061						uc002jey.2		NA																	0					0						c.(4027-4029)CCG>CCA		leucine rich repeat containing 37, member A3							110.0	117.0	115.0					17																	62856235		2201	4299	6500	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62856235C>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4029G>A	17.37:g.62856235C>T						LRRC37A3_uc010wqg.1_Silent_p.P461P|LRRC37A3_uc002jex.1_Silent_p.P320P|LRRC37A3_uc010wqf.1_Silent_p.P381P|LRRC37A3_uc010dek.1_Silent_p.P349P	p.P1343P	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4560	-			1343			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.4029G>A	CCDS32708.1																																																																																				0.463	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		36	135	0	0	0	0.004289	0	36	135				
ABCA8	10351	broad.mit.edu	37	17	66881435	66881435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:66881435C>A	ENST00000269080.2	-	25	3468	c.3331G>T	c.(3331-3333)Gga>Tga	p.G1111*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.G1151*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.G1151*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1111					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACGCAAATCCAGCCACAGAG	0.358																																							uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(3331-3333)GGA>TGA		ATP-binding cassette, sub-family A member 8							82.0	75.0	77.0					17																	66881435		2203	4300	6503	SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66881435C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3331G>T	17.37:g.66881435C>A	ENSP00000269080:p.Gly1111*					ABCA8_uc002jhq.2_Nonsense_Mutation_p.G1151*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.G1151*	p.G1111*	NM_007168	NP_009099	O94911	ABCA8_HUMAN			25	3510	-	Breast(10;4.56e-13)		1111			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	c.3331G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	38	7.159960	0.98103	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	.	.	.	4.21	-2.94	0.05581	.	2.716840	0.01007	N	0.003762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	4.5084	0.11899	0.165:0.3027:0.0:0.5323	.	.	.	.	X	1111;1151	.	ENSP00000269080:G1111X	G	-	1	0	ABCA8	64393030	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.404000	0.00482	-0.514000	0.06488	0.655000	0.94253	GGA		0.358	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		20	41	1	0	0.000132079	0.008871	0.000173038	20	41				
MGAT5B	146664	broad.mit.edu	37	17	74901391	74901391	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:74901391G>T	ENST00000569840.2	+	7	1405	c.831G>T	c.(829-831)ggG>ggT	p.G277G	MGAT5B_ENST00000301618.4_Silent_p.G277G|MGAT5B_ENST00000428789.2_Silent_p.G288G|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	277					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAGCTGGGGGCCACCCAGA	0.647																																							uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(862-864)GGG>GGT		N-acetylglucosaminyltranferase VB isoform 2							18.0	22.0	21.0					17																	74901391		2196	4292	6488	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74901391G>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.831G>T	17.37:g.74901391G>T						MGAT5B_uc002jth.2_Silent_p.G277G	p.G288G	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			6	967	+			277			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.864G>T	CCDS59299.1																																																																																				0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		20	7	1	0	3.5997e-14	0.002299	5.99325e-14	20	7				
SEC14L1	6397	broad.mit.edu	37	17	75205438	75205438	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:75205438G>A	ENST00000413679.2	+	14	1794	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	SEC14L1_ENST00000443798.4_Silent_p.E497E|SEC14L1_ENST00000585618.1_Silent_p.E497E|SEC14L1_ENST00000392476.2_Silent_p.E497E|SEC14L1_ENST00000431431.2_Silent_p.E463E|SEC14L1_ENST00000591437.1_Silent_p.E463E|SEC14L1_ENST00000430767.4_Silent_p.E497E|SEC14L1_ENST00000436233.4_Silent_p.E497E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	497					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						AAGTGCCAGAGGGTGGACTGG	0.552																																							uc002jto.2		NA																	0				ovary(2)	2						c.(1489-1491)GAG>GAA		SEC14 (S. cerevisiae)-like 1 isoform a							71.0	62.0	65.0					17																	75205438		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205438G>A	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.1491G>A	17.37:g.75205438G>A						SEC14L1_uc010dhc.2_Silent_p.E497E|SEC14L1_uc010wth.1_Silent_p.E497E|SEC14L1_uc002jtm.2_Silent_p.E497E|SEC14L1_uc010wti.1_Silent_p.E463E|SEC14L1_uc010wtj.1_Silent_p.E57E|SEC14L1_uc002jtr.2_5'UTR	p.E497E	NM_003003	NP_002994	Q92503	S14L1_HUMAN			14	1758	+			497					A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1491G>A	CCDS11752.1																																																																																				0.552	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		3	30	0	0	0	0.004672	0	3	30				
LAMA1	284217	broad.mit.edu	37	18	7044817	7044817	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:7044817G>A	ENST00000389658.3	-	7	973	c.880C>T	c.(880-882)Cat>Tat	p.H294Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	294	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAAGTATTATGCTCACATTGA	0.448																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(880-882)CAT>TAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						116.0	111.0	113.0					18																	7044817		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.chr18:7044817G>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.880C>T	18.37:g.7044817G>A	ENSP00000374309:p.His294Tyr					LAMA1_uc010wzj.1_5'UTR	p.H294Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN			7	974	-		Colorectal(10;0.172)	294			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.880C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574866	0.65878	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	4.97	4.97	0.65823	EGF-like, laminin (4);	0.232727	0.35407	N	0.003237	D	0.86226	0.5882	H	0.97158	3.95	0.58432	D	0.99999	D	0.89917	1.0	D	0.73380	0.98	D	0.90423	0.4418	10	0.54805	T	0.06	.	18.579	0.91165	0.0:0.0:1.0:0.0	.	294	P25391	LAMA1_HUMAN	Y	294	ENSP00000374309:H294Y	ENSP00000374309:H294Y	H	-	1	0	LAMA1	7034817	1.000000	0.71417	0.570000	0.28473	0.294000	0.27393	9.769000	0.98969	2.456000	0.83038	0.655000	0.94253	CAT		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		67	59	0	0	0	0.00361	0	67	59				
PIEZO2	63895	broad.mit.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:10672706C>A	ENST00000503781.3	-	51	7986	c.7987G>T	c.(7987-7989)Ggg>Tgg	p.G2663W	PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455W|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620W|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2600W|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688W	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463																																							uc002kor.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1858-1860)GGG>TGG		family with sequence similarity 38, member B							112.0	107.0	108.0					18																	10672706		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10672706C>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7987G>T	18.37:g.10672706C>A	ENSP00000421377:p.Gly2663Trp					FAM38B_uc002koq.2_Missense_Mutation_p.G455W	p.G620W	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			13	1998	-			2663			Helical; (Potential).		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.1858G>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.586008	0.86748	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.72835	-0.69;-0.69	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.82323	2.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.86857	0.2027	10	0.72032	D	0.01	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	557	D6RFZ0	.	W	557;2663;620;455	ENSP00000443129:G620W;ENSP00000285141:G455W	ENSP00000285141:G455W	G	-	1	0	FAM38B	10662706	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	7.742000	0.85008	2.894000	0.99253	0.655000	0.94253	GGG		0.463	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		34	118	1	0	2.42023e-17	0.003271	4.33832e-17	34	118				
ESCO1	114799	broad.mit.edu	37	18	19154125	19154125	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:19154125C>A	ENST00000269214.5	-	4	1617	c.680G>T	c.(679-681)tGt>tTt	p.C227F		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	227					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTCTGAGGACACTTTTCAGA	0.403																																							uc002kth.1		NA																	0					0						c.(679-681)TGT>TTT		establishment of cohesion 1 homolog 1							176.0	170.0	172.0					18																	19154125		2203	4299	6502	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154125C>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.680G>T	18.37:g.19154125C>A	ENSP00000269214:p.Cys227Phe					ESCO1_uc002kti.1_RNA	p.C227F	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1614	-			227					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.680G>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	7.889	0.731959	0.15507	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59224	0.28;1.82	5.5	3.7	0.42460	.	0.368646	0.24417	N	0.038716	T	0.42743	0.1216	L	0.54323	1.7	0.33392	D	0.576223	P	0.35383	0.498	B	0.26693	0.072	T	0.50651	-0.8803	10	0.10111	T	0.7	-17.0556	9.3036	0.37861	0.0:0.7772:0.0:0.2228	.	227	Q5FWF5	ESCO1_HUMAN	F	227	ENSP00000269214:C227F;ENSP00000372763:C227F	ENSP00000269214:C227F	C	-	2	0	ESCO1	17408123	0.060000	0.20803	1.000000	0.80357	0.649000	0.38597	0.561000	0.23515	1.335000	0.45486	0.655000	0.94253	TGT		0.403	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		41	70	1	0	3.61848e-18	0.007835	6.5971e-18	41	70				
NPC1	4864	broad.mit.edu	37	18	21136522	21136523	+	Missense_Mutation	DNP	CC	CC	AA	rs373390781|rs147795644	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:21136522_21136523CC>AA	ENST00000269228.5	-	8	1564_1565	c.1010_1011GG>TT	c.(1009-1011)cGG>cTT	p.R337L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R87L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	337					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGTGAACAGCCGCCTCAAGCA	0.574																																							uc002kum.3		NA																	0				ovary(2)	2						c.(1009-1011)CGG>CTT		Niemann-Pick disease, type C1 precursor																																				SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136522_21136523CC>AA	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1010_1011delinsAA	18.37:g.21136522_21136523delinsAA	ENSP00000269228:p.Arg337Leu					NPC1_uc010xaz.1_Missense_Mutation_p.R138L|NPC1_uc010xba.1_Missense_Mutation_p.R182L	p.R337L	NM_000271	NP_000262	O15118	NPC1_HUMAN			8	1284_1285	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		337					B4DET3|Q9P130	Missense_Mutation	DNP	ENST00000269228.5	37	c.1010_1011GG>TT	CCDS11878.1																																																																																				0.574	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		14	15	0	0	0	0.004672	0	14	15				
ZNF521	25925	broad.mit.edu	37	18	22804644	22804644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:22804644G>T	ENST00000361524.3	-	4	3386	c.3238C>A	c.(3238-3240)Ctg>Atg	p.L1080M	ZNF521_ENST00000538137.2_Missense_Mutation_p.L1080M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.L860M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1080					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTTCACCAGATCTTGCTTG	0.542			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(3238-3240)CTG>ATG		zinc finger protein 521							77.0	70.0	72.0					18																	22804644		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804644G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3238C>A	18.37:g.22804644G>T	ENSP00000354794:p.Leu1080Met					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L1080M|ZNF521_uc002kvl.2_Missense_Mutation_p.L860M	p.L1080M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3485	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1080			C2H2-type 25; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3238C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.962	0.970707	0.18659	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.16457	2.59;2.34	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.26340	0.0643	L	0.29908	0.895	0.36681	D	0.879076	D	0.54601	0.967	P	0.62014	0.897	T	0.07558	-1.0766	10	0.87932	D	0	-19.854	11.155	0.48482	0.1102:0.0:0.8898:0.0	.	1080	Q96K83	ZN521_HUMAN	M	1080;1114;1080	ENSP00000354794:L1080M;ENSP00000382352:L1080M	ENSP00000354794:L1080M	L	-	1	2	ZNF521	21058642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.022000	0.49659	2.776000	0.95493	0.650000	0.86243	CTG		0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		18	39	1	0	9.16793e-09	0.00499	1.35262e-08	18	39				
CDH2	1000	broad.mit.edu	37	18	25565085	25565085	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:25565085C>A	ENST00000269141.3	-	13	2511	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	CDH2_ENST00000399380.3_Silent_p.L665L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	696	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTTCACACGCAGGATGGAAA	0.468																																							uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(2086-2088)CTG>CTT		cadherin 2, type 1 preproprotein							94.0	83.0	87.0					18																	25565085		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565085C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2088G>T	18.37:g.25565085C>A						CDH2_uc010xbn.1_Silent_p.L665L	p.L696L	NM_001792	NP_001783	P19022	CADH2_HUMAN			13	2547	-			696			Extracellular (Potential).|Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.2088G>T	CCDS11891.1																																																																																				0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		17	27	1	0	8.34094e-07	0.008871	1.16944e-06	17	27				
ASXL3	80816	broad.mit.edu	37	18	31323231	31323231	+	Missense_Mutation	SNP	C	C	A	rs201152513		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:31323231C>A	ENST00000269197.5	+	12	3419	c.3419C>A	c.(3418-3420)cCa>cAa	p.P1140Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGGGCCTCCAAACTTAGAA	0.483																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3418-3420)CCA>CAA		additional sex combs like 3		C	GLN/PRO	0,3748		0,0,1874	39.0	39.0	39.0		3419	4.0	0.0	18		39	1,8215		0,1,4107	yes	missense	ASXL3	NM_030632.1	76	0,1,5981	AA,AC,CC		0.0122,0.0,0.0084	possibly-damaging	1140/2249	31323231	1,11963	1874	4108	5982	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323231C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3419C>A	18.37:g.31323231C>A	ENSP00000269197:p.Pro1140Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.P847Q	p.P1140Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3474	+			1140					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3419C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399669	0.42512	0.0	1.22E-4	ENSG00000141431	ENST00000269197	T	0.46819	0.86	5.8	3.99	0.46301	.	2.071910	0.02055	N	0.050359	T	0.52403	0.1732	L	0.44542	1.39	0.09310	N	1	P	0.43477	0.808	P	0.45037	0.467	T	0.46992	-0.9151	10	0.66056	D	0.02	.	11.482	0.50331	0.0:0.8536:0.0:0.1464	.	1140	Q9C0F0	ASXL3_HUMAN	Q	1140	ENSP00000269197:P1140Q	ENSP00000269197:P1140Q	P	+	2	0	ASXL3	29577229	0.005000	0.15991	0.003000	0.11579	0.988000	0.76386	1.822000	0.39052	0.765000	0.33221	0.655000	0.94253	CCA		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	10	1	0	0.00198382	0.001984	0.00250656	6	10				
ST8SIA5	29906	broad.mit.edu	37	18	44260249	44260249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:44260249G>T	ENST00000315087.7	-	7	1547	c.887C>A	c.(886-888)gCc>gAc	p.A296D	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A332D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A265D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	296					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GATGCGCTTGGCGCGCACCCC	0.622																																							uc002lcj.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(886-888)GCC>GAC		ST8 alpha-N-acetyl-neuraminide							92.0	82.0	86.0					18																	44260249		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260249G>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.887C>A	18.37:g.44260249G>T	ENSP00000321343:p.Ala296Asp					ST8SIA5_uc002lci.1_Missense_Mutation_p.A143D|ST8SIA5_uc010xcy.1_Missense_Mutation_p.A332D|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A265D	p.A296D	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1455	-			296			Lumenal (Potential).		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.887C>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016102	0.93404	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.31769	1.48;1.48;1.48	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.971;1.0	D;P;D	0.91635	0.999;0.906;0.997	T	0.58549	-0.7617	10	0.31617	T	0.26	-12.8033	19.4172	0.94706	0.0:0.0:1.0:0.0	.	265;332;296	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	D	296;332;265	ENSP00000321343:A296D;ENSP00000445492:A332D;ENSP00000443683:A265D	ENSP00000321343:A296D	A	-	2	0	ST8SIA5	42514247	1.000000	0.71417	0.987000	0.45799	0.850000	0.48378	9.869000	0.99810	2.584000	0.87258	0.561000	0.74099	GCC		0.622	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		5	20	1	0	2.0095e-06	0.001984	2.76883e-06	5	20				
ME2	4200	broad.mit.edu	37	18	48458657	48458657	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:48458657A>G	ENST00000321341.5	+	13	1616	c.1344A>G	c.(1342-1344)ccA>ccG	p.P448P	ME2_ENST00000585680.1_3'UTR|ME2_ENST00000382927.3_Silent_p.P448P	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	448					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTGGCAGTCCATTTGGGCCAG	0.358																																							uc002ley.2		NA																	0					0						c.(1342-1344)CCA>CCG		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						126.0	123.0	124.0					18																	48458657		2203	4300	6503	SO:0001819	synonymous_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48458657A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1344A>G	18.37:g.48458657A>G						ME2_uc010dpd.2_Silent_p.P448P	p.P448P	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	13	1600	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	448					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	c.1344A>G	CCDS11948.1																																																																																				0.358	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		25	42	0	0	0	0.007291	0	25	42				
DCC	1630	broad.mit.edu	37	18	50985817	50985817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:50985817C>A	ENST00000442544.2	+	24	4224	c.3608C>A	c.(3607-3609)aCc>aAc	p.T1203N	DCC_ENST00000581580.1_Missense_Mutation_p.T838N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1203					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAAAAGCACCTCTCATTCA	0.478																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3607-3609)ACC>AAC		netrin receptor DCC precursor							117.0	113.0	114.0					18																	50985817		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50985817C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3608C>A	18.37:g.50985817C>A	ENSP00000389140:p.Thr1203Asn					DCC_uc010dpf.1_Missense_Mutation_p.T838N	p.T1203N	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	24	4195	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1203			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3608C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977034	0.34848	.	.	ENSG00000187323	ENST00000442544	T	0.38722	1.12	5.83	5.83	0.93111	Neogenin, C-terminal (1);	0.241167	0.29501	N	0.011968	T	0.23094	0.0558	N	0.04090	-0.28	0.33485	D	0.587919	B	0.02656	0.0	B	0.06405	0.002	T	0.12993	-1.0526	10	0.08381	T	0.77	-11.117	18.8899	0.92395	0.0:1.0:0.0:0.0	.	1203	P43146	DCC_HUMAN	N	1203	ENSP00000389140:T1203N	ENSP00000389140:T1203N	T	+	2	0	DCC	49239815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.761000	0.62243	2.769000	0.95229	0.655000	0.94253	ACC		0.478	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		22	27	1	0	2.37509e-13	0.001523	3.88688e-13	22	27				
ZCCHC2	54877	broad.mit.edu	37	18	60237354	60237354	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:60237354G>C	ENST00000269499.5	+	12	2283	c.1865G>C	c.(1864-1866)gGc>gCc	p.G622A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G301A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	622						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						TTGGACATTGGCTCTGGACAT	0.313																																							uc002lip.3		NA																	0				lung(1)|prostate(1)	2						c.(1864-1866)GGC>GCC		zinc finger, CCHC domain containing 2							63.0	60.0	61.0					18																	60237354		1838	4094	5932	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60237354G>C	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.1865G>C	18.37:g.60237354G>C	ENSP00000269499:p.Gly622Ala					ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.G92A	p.G622A	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			12	1865	+			622					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.1865G>C	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048944	0.55110	.	.	ENSG00000141664	ENST00000269499	T	0.25414	1.8	5.08	5.08	0.68730	.	0.176519	0.39834	N	0.001243	T	0.18882	0.0453	L	0.29908	0.895	0.46167	D	0.998904	P	0.44429	0.835	B	0.36030	0.216	T	0.02020	-1.1228	10	0.44086	T	0.13	-14.2656	15.4202	0.75006	0.0:0.139:0.861:0.0	.	622	Q9C0B9	ZCHC2_HUMAN	A	622	ENSP00000269499:G622A	ENSP00000269499:G622A	G	+	2	0	ZCCHC2	58388334	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.720000	0.61944	2.793000	0.96121	0.655000	0.94253	GGC		0.313	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		5	7	0	0	0	0.001168	0	5	7				
CDH7	1005	broad.mit.edu	37	18	63547670	63547670	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:63547670G>T	ENST00000397968.2	+	12	2324	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L	CDH7_ENST00000323011.3_Missense_Mutation_p.R633L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	633					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)				ATGAGAAGACGGAAAAAAGAG	0.438																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1897-1899)CGG>CTG		cadherin 7, type 2 preproprotein							59.0	60.0	60.0					18																	63547670		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.chr18:63547670G>T	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.1898G>T	18.37:g.63547670G>T	ENSP00000381058:p.Arg633Leu					CDH7_uc002lkb.2_Missense_Mutation_p.R633L	p.R633L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2223	+		Esophageal squamous(42;0.129)	633			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1898G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451579	0.63290	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.54279	0.58;0.58	5.71	5.71	0.89125	Cadherin, cytoplasmic domain (1);	0.064498	0.64402	D	0.000019	T	0.64091	0.2567	L	0.61036	1.89	0.80722	D	1	P	0.48503	0.911	P	0.51297	0.665	T	0.61222	-0.7106	10	0.39692	T	0.17	.	19.8625	0.96789	0.0:0.0:1.0:0.0	.	633	Q9ULB5	CADH7_HUMAN	L	633	ENSP00000319166:R633L;ENSP00000381058:R633L	ENSP00000319166:R633L	R	+	2	0	CDH7	61698650	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.360000	0.73064	2.689000	0.91719	0.655000	0.94253	CGG		0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		9	28	1	0	3.09899e-07	0.004482	4.42251e-07	9	28				
TSHZ1	10194	broad.mit.edu	37	18	72999633	72999633	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:72999633G>T	ENST00000580243.1	+	2	2619	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	TSHZ1_ENST00000322038.5_Silent_p.L712L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	757					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACACCCACCTGGGCAAGGTGT	0.602																																							uc002lly.2		NA																	0					0						c.(2134-2136)CTG>CTT		teashirt family zinc finger 1							72.0	69.0	70.0					18																	72999633		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999633G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2271G>T	18.37:g.72999633G>T							p.L712L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2699	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	757					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2136G>T																																																																																					0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	31	1	0	8.12818e-05	0.001984	0.00010678	7	31				
ZBTB7A	51341	broad.mit.edu	37	19	4047778	4047778	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4047778T>A	ENST00000322357.4	-	3	2005	c.1727A>T	c.(1726-1728)gAc>gTc	p.D576V	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D576V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	576					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTTACCGTCGGTGGCGGC	0.602																																							uc002lzh.2		NA																	0				pancreas(1)|skin(1)	2						c.(1726-1728)GAC>GTC		zinc finger and BTB domain containing 7A							31.0	34.0	33.0					19																	4047778		2198	4291	6489	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4047778T>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1727A>T	19.37:g.4047778T>A	ENSP00000323670:p.Asp576Val					ZBTB7A_uc002lzi.2_Missense_Mutation_p.D576V	p.D576V	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1802	-		Hepatocellular(1079;0.137)	576					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1727A>T	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901117	0.52227	.	.	ENSG00000178951	ENST00000322357	T	0.12147	2.71	3.68	3.68	0.42216	.	0.803168	0.10600	U	0.655734	T	0.08044	0.0201	N	0.08118	0	0.40856	D	0.983795	B	0.09022	0.002	B	0.09377	0.004	T	0.14062	-1.0486	10	0.62326	D	0.03	.	9.0307	0.36258	0.0:0.0:0.0:1.0	.	576	O95365	ZBT7A_HUMAN	V	576	ENSP00000323670:D576V	ENSP00000323670:D576V	D	-	2	0	ZBTB7A	3998778	0.822000	0.29219	0.891000	0.34965	0.815000	0.46073	1.310000	0.33551	1.457000	0.47850	0.448000	0.29417	GAC		0.602	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		11	22	0	0	0	0.000978	0	11	22				
ANKRD24	170961	broad.mit.edu	37	19	4224484	4224484	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4224484C>A	ENST00000600132.1	+	22	3699	c.3423C>A	c.(3421-3423)ctC>ctA	p.L1141L	ANKRD24_ENST00000262970.5_Silent_p.L1231L|ANKRD24_ENST00000318934.4_Silent_p.L1141L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1141										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCAGAGACTCCAGGCTCAGG	0.612																																							uc010dtt.1		NA																	0					0						c.(3421-3423)CTC>CTA		ankyrin repeat domain 24							43.0	50.0	48.0					19																	4224484		2109	4236	6345	SO:0001819	synonymous_variant	170961							g.chr19:4224484C>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3423C>A	19.37:g.4224484C>A							p.L1141L	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	22	3699	+			1141					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.3423C>A	CCDS45925.1																																																																																				0.612	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		16	24	1	0	6.94344e-10	0.006122	1.06882e-09	16	24				
SAFB2	9667	broad.mit.edu	37	19	5610692	5610692	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:5610692T>G	ENST00000252542.4	-	8	1417	c.1153A>C	c.(1153-1155)Aag>Cag	p.K385Q	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTTTCTTCCTTAAAAGAGCTA	0.323																																					Ovarian(127;888 1728 23957 44128 52668)	Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	0					0						c.(1153-1155)AAG>CAG		scaffold attachment factor B2							84.0	79.0	81.0					19																	5610692		2201	4300	6501	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5610692T>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1153A>C	19.37:g.5610692T>G	ENSP00000252542:p.Lys385Gln						p.K385Q	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	8	1365	-			385					B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.1153A>C	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213522	0.39102	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.10477	2.87	5.26	4.18	0.49190	.	0.214044	0.32753	N	0.005685	T	0.08537	0.0212	L	0.54323	1.7	0.36759	D	0.883195	P	0.44195	0.828	B	0.36186	0.219	T	0.14980	-1.0453	10	0.52906	T	0.07	-40.0721	3.1517	0.06490	0.0:0.3794:0.0:0.6206	.	385	Q14151	SAFB2_HUMAN	Q	281;136;385;385	ENSP00000252542:K385Q	ENSP00000252542:K385Q	K	-	1	0	SAFB2	5561692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.788000	0.47806	2.003000	0.58678	0.402000	0.26972	AAG		0.323	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		10	9	0	0	0	0.006214	0	10	9				
MUC16	94025	broad.mit.edu	37	19	8968943	8968943	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:8968943T>A	ENST00000397910.4	-	80	43276	c.43073A>T	c.(43072-43074)aAc>aTc	p.N14358I	MUC16_ENST00000380951.5_Missense_Mutation_p.N999I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14454	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGTTGGTTGAGCTGAAA	0.438																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43072-43074)AAC>ATC		mucin 16							70.0	66.0	67.0					19																	8968943		1946	4145	6091	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8968943T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43073A>T	19.37:g.8968943T>A	ENSP00000381008:p.Asn14358Ile					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N1158I|MUC16_uc010xki.1_RNA	p.N14358I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			80	43277	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43073A>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.16|12.16	1.855506|1.855506	0.32791|0.32791	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.42900|.	0.96;0.96|.	4.35|4.35	3.33|3.33	0.38152|0.38152	SEA (3);|.	.|0.377417	.|0.19187	.|N	.|0.120524	T|T	0.51295|0.51295	0.1666|0.1666	L|L	0.53249|0.53249	1.67|1.67	.|.	.|.	.|.	D;D|.	0.76494|.	0.999;0.983|.	D;D|.	0.79108|.	0.992;0.96|.	T|T	0.59354|0.59354	-0.7470|-0.7470	8|5	0.59425|.	D|.	0.04|.	.|.	6.7747|6.7747	0.23613|0.23613	0.0:0.1073:0.0:0.8927|0.0:0.1073:0.0:0.8927	.|.	22003;14358|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	I|S	14358;999|1181	ENSP00000381008:N14358I;ENSP00000370338:N999I|.	ENSP00000370338:N999I|.	N|T	-|-	2|1	0|0	MUC16|MUC16	8829943|8829943	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.265000|0.265000	0.26407|0.26407	4.095000|4.095000	0.57728|0.57728	0.817000|0.817000	0.34445|0.34445	-0.290000|-0.290000	0.09829|0.09829	AAC|ACC		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	11	0	0	0	0.001168	0	6	11				
OR7G1	125962	broad.mit.edu	37	19	9226437	9226437	+	Start_Codon_SNP	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:9226437C>T	ENST00000541538.1	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	OR7G1_ENST00000293614.1_Start_Codon_SNP_p.M1I	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TTCTGGGTCCCATGTTTTTGA	0.418																																							uc002mks.1		NA																	0				ovary(2)	2						c.(1-3)ATG>ATA		olfactory receptor, family 7, subfamily G,							72.0	74.0	73.0					19																	9226437		2203	4300	6503	SO:0001582	initiator_codon_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226437C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.3G>A	19.37:g.9226437C>T	ENSP00000444134:p.Met1Ile						p.M1I	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN			1	3	-			1			Extracellular (Potential).		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.3G>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	10.58	1.388736	0.25118	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.01369	4.97;4.97	2.76	1.71	0.24356	.	0.000000	0.45126	U	0.000400	T	0.01627	0.0052	.	.	.	0.34210	D	0.674149	B	0.22851	0.076	B	0.26614	0.071	T	0.32851	-0.9891	9	0.87932	D	0	.	7.8262	0.29315	0.0:0.8657:0.0:0.1343	.	1	Q8NGA0	OR7G1_HUMAN	I	1	ENSP00000293614:M1I;ENSP00000444134:M1I	ENSP00000293614:M1I	M	-	3	0	OR7G1	9087437	0.002000	0.14202	0.003000	0.11579	0.085000	0.17905	0.608000	0.24223	0.758000	0.33059	0.501000	0.49751	ATG		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		Missense_Mutation	40	18	0	0	0	0.004878	0	40	18				
CDC37	11140	broad.mit.edu	37	19	10504034	10504034	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:10504034G>A	ENST00000222005.2	-	6	863	c.810C>T	c.(808-810)cgC>cgT	p.R270R		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	270					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCGATGCGCAGCTTGG	0.657																																							uc002mof.1		NA																	0					0						c.(808-810)CGC>CGT		cell division cycle 37 protein							71.0	66.0	68.0					19																	10504034		2203	4300	6503	SO:0001819	synonymous_variant	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10504034G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.810C>T	19.37:g.10504034G>A						CDC37_uc002moe.1_Silent_p.R225R|CDC37_uc010dxf.1_Silent_p.R107R|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.R270R	p.R270R	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	6	926	-			270					Q53YA2	Silent	SNP	ENST00000222005.2	37	c.810C>T	CCDS12237.1																																																																																				0.657	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		55	5	0	0	0	0.00361	0	55	5				
SLC1A6	6511	broad.mit.edu	37	19	15073090	15073090	+	Missense_Mutation	SNP	G	G	A	rs141656938	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15073090G>A	ENST00000221742.3	-	5	666	c.659C>T	c.(658-660)cCg>cTg	p.P220L	SLC1A6_ENST00000600144.1_Missense_Mutation_p.P220L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P156L|SLC1A6_ENST00000598504.1_Missense_Mutation_p.P220L|SLC1A6_ENST00000544886.2_Missense_Mutation_p.P220L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	220					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAGGCACCCGGCTCAGACCC	0.547													N|||	6	0.00119808	0.0045	0.0	5008	,	,		18589	0.0		0.0	False		,,,				2504	0.0						uc002naa.1		NA																	0				pancreas(3)|ovary(2)|skin(1)	6						c.(658-660)CCG>CTG		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)	G	LEU/PRO	8,4398	14.3+/-33.2	0,8,2195	121.0	113.0	116.0		659	-1.7	0.6	19	dbSNP_134	116	0,8600		0,0,4300	yes	missense	SLC1A6	NM_005071.1	98	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	220/565	15073090	8,12998	2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073090G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.659C>T	19.37:g.15073090G>A	ENSP00000221742:p.Pro220Leu					SLC1A6_uc010dzu.1_Missense_Mutation_p.P220L|SLC1A6_uc010xod.1_Missense_Mutation_p.P156L|SLC1A6_uc002nab.2_Missense_Mutation_p.P220L|SLC1A6_uc002nac.2_Missense_Mutation_p.P220L	p.P220L	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	667	-			220			Extracellular (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.659C>T	CCDS12321.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	2.323	-0.355195	0.05138	0.001816	0.0	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70986	-0.53;0.61;1.35	4.42	-1.7	0.08159	.	0.746071	0.12874	N	0.431993	T	0.36580	0.0972	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.0	T	0.26326	-1.0106	10	0.08381	T	0.77	-0.0086	4.709	0.12863	0.5128:0.0:0.3465:0.1407	.	156;220;220	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	L	156;220;220	ENSP00000409386:P156L;ENSP00000221742:P220L;ENSP00000446175:P220L	ENSP00000221742:P220L	P	-	2	0	SLC1A6	14934090	0.002000	0.14202	0.607000	0.28956	0.514000	0.34195	-0.372000	0.07504	-0.673000	0.05259	-1.373000	0.01185	CCG		0.547	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		67	22	0	0	0	0.00361	0	67	22				
CYP4F12	66002	broad.mit.edu	37	19	15794413	15794413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15794413G>C	ENST00000550308.1	+	7	1138	c.758G>C	c.(757-759)gGg>gCg	p.G253A	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G253A	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	253					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TCCCATGACGGGCGGCGCTTC	0.552																																							uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(757-759)GGG>GCG		cytochrome P450, family 4, subfamily F,							76.0	78.0	77.0					19																	15794413		2198	4293	6491	SO:0001583	missense	66002							g.chr19:15794413G>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.758G>C	19.37:g.15794413G>C	ENSP00000448998:p.Gly253Ala						p.G253A	NM_023944	NP_076433					7	819	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.758G>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908487	0.52333	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68181	-0.31;-0.31	2.46	2.46	0.29980	.	0.000000	0.64402	U	0.000002	T	0.74291	0.3697	L	0.49571	1.57	0.28483	N	0.914867	D	0.76494	0.999	D	0.83275	0.996	T	0.66791	-0.5834	10	0.66056	D	0.02	.	11.0299	0.47767	0.0:0.0:1.0:0.0	.	253	Q9HCS2	CP4FC_HUMAN	A	253	ENSP00000448998:G253A;ENSP00000321821:G253A	ENSP00000321821:G253A	G	+	2	0	CYP4F12	15655413	1.000000	0.71417	0.015000	0.15790	0.006000	0.05464	6.907000	0.75724	1.682000	0.51000	0.484000	0.47621	GGG		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			50	25	0	0	0	0.00361	0	50	25				
OR10H1	26539	broad.mit.edu	37	19	15918728	15918728	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15918728C>A	ENST00000334920.2	-	1	208	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCAGGTTGCCCAGCAGCGTGA	0.597																																							uc002nbq.2		NA																	0					0						c.(118-120)CTG>CTT		olfactory receptor, family 10, subfamily H,							135.0	118.0	124.0					19																	15918728		2203	4297	6500	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918728C>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.120G>T	19.37:g.15918728C>A							p.L40L	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	209	-			40			Helical; Name=1; (Potential).		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.120G>T	CCDS12335.1																																																																																				0.597	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			54	11	1	0	2.03366e-24	0.00361	3.96398e-24	54	11				
CIB3	117286	broad.mit.edu	37	19	16280476	16280476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:16280476G>T	ENST00000269878.4	-	3	212	c.163C>A	c.(163-165)Ccc>Acc	p.P55T	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	55							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGCTCGTAGGGCACCTTCACA	0.557																																							uc002nds.2		NA																	0				ovary(1)	1						c.(163-165)CCC>ACC		DNA-dependent protein kinase catalytic							78.0	61.0	67.0					19																	16280476		2203	4300	6503	SO:0001583	missense	117286						calcium ion binding	g.chr19:16280476G>T	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.163C>A	19.37:g.16280476G>T	ENSP00000269878:p.Pro55Thr					CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron	p.P55T	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN			3	163	-			55					E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	c.163C>A	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809127	0.70797	.	.	ENSG00000141977	ENST00000269878	T	0.63096	-0.02	4.91	4.91	0.64330	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	L	0.55743	1.74	0.80722	D	1	P	0.45283	0.855	B	0.44163	0.443	T	0.64223	-0.6458	10	0.38643	T	0.18	-32.7493	17.1078	0.86668	0.0:0.0:1.0:0.0	.	55	Q96Q77	CIB3_HUMAN	T	55	ENSP00000269878:P55T	ENSP00000269878:P55T	P	-	1	0	CIB3	16141476	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.655000	0.98512	2.273000	0.75805	0.561000	0.74099	CCC		0.557	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		10	4	1	0	5.50884e-06	0.001368	7.50423e-06	10	4				
MAP1S	55201	broad.mit.edu	37	19	17837847	17837847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:17837847A>T	ENST00000324096.4	+	5	1805	c.1654A>T	c.(1654-1656)Aag>Tag	p.K552*	MAP1S_ENST00000544059.2_Nonsense_Mutation_p.K526*|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	552	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCCCAACCTCAAGAAGACGAA	0.682																																							uc002nhe.1		NA																	0				central_nervous_system(1)	1						c.(1654-1656)AAG>TAG		BPY2 interacting protein 1							9.0	14.0	13.0					19																	17837847		2169	4238	6407	SO:0001587	stop_gained	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837847A>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1654A>T	19.37:g.17837847A>T	ENSP00000325313:p.Lys552*					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Nonsense_Mutation_p.K552*|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Nonsense_Mutation_p.K526*	p.K552*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	1663	+			552			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Nonsense_Mutation	SNP	ENST00000324096.4	37	c.1654A>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	A	36	5.911059	0.97093	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	.	.	.	3.63	2.6	0.31112	.	0.274240	0.25944	N	0.027285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6717	3.3175	0.07039	0.6243:0.244:0.1317:0.0	.	.	.	.	X	552;526	.	ENSP00000325313:K552X	K	+	1	0	MAP1S	17698847	0.068000	0.21057	0.489000	0.27452	0.087000	0.18053	0.487000	0.22356	1.285000	0.44548	0.402000	0.26972	AAG		0.682	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		11	2	0	0	0	0.001368	0	11	2				
ZNF536	9745	broad.mit.edu	37	19	31040383	31040383	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:31040383C>G	ENST00000355537.3	+	4	4004	c.3857C>G	c.(3856-3858)aCa>aGa	p.T1286R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1286					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGTAGCACAGCAAATTCT	0.488																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3856-3858)ACA>AGA		zinc finger protein 536							51.0	50.0	50.0					19																	31040383		2181	4232	6413	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040383C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3857C>G	19.37:g.31040383C>G	ENSP00000347730:p.Thr1286Arg					ZNF536_uc010edd.1_Missense_Mutation_p.T1286R	p.T1286R	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3995	+	Esophageal squamous(110;0.0834)		1286					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3857C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996199	0.54147	.	.	ENSG00000198597	ENST00000355537	T	0.10005	2.92	5.01	5.01	0.66863	.	0.420011	0.25925	N	0.027405	T	0.10423	0.0255	L	0.27053	0.805	0.41081	D	0.985529	P;P	0.39216	0.664;0.664	B;B	0.36030	0.216;0.216	T	0.09952	-1.0651	10	0.87932	D	0	-1.6335	18.3218	0.90241	0.0:1.0:0.0:0.0	.	1286;1286	A7E228;O15090	.;ZN536_HUMAN	R	1286	ENSP00000347730:T1286R	ENSP00000347730:T1286R	T	+	2	0	ZNF536	35732223	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.619000	0.54196	2.292000	0.77174	0.650000	0.86243	ACA		0.488	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	53	0	0	0	0.00499	0	17	53				
TSHZ3	57616	broad.mit.edu	37	19	31768676	31768676	+	Missense_Mutation	SNP	G	G	A	rs143305127		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:31768676G>A	ENST00000240587.4	-	2	2350	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CACCCATCCCGCGGGGGGCTG	0.652																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2023-2025)CGG>TGG		zinc finger protein 537		G	TRP/ARG	0,4394		0,0,2197	25.0	28.0	27.0		2023	1.9	0.0	19	dbSNP_134	27	2,8578		0,2,4288	yes	missense	TSHZ3	NM_020856.2	101	0,2,6485	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	675/1082	31768676	2,12972	2197	4290	6487	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768676G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2023C>T	19.37:g.31768676G>A	ENSP00000240587:p.Arg675Trp						p.R675W	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2088	-	Esophageal squamous(110;0.226)		675					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2023C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528353	0.27299	0.0	2.33E-4	ENSG00000121297	ENST00000240587	T	0.39787	1.06	5.5	1.94	0.25998	.	0.353536	0.29053	N	0.013294	T	0.34250	0.0891	N	0.14661	0.345	0.31399	N	0.676919	D	0.64830	0.994	P	0.50570	0.644	T	0.47873	-0.9083	10	0.72032	D	0.01	-14.3004	13.4026	0.60891	0.0:0.0:0.283:0.717	.	675	Q63HK5	TSH3_HUMAN	W	675	ENSP00000240587:R675W	ENSP00000240587:R675W	R	-	1	2	TSHZ3	36460516	0.803000	0.28956	0.023000	0.16930	0.159000	0.22180	0.886000	0.28241	0.617000	0.30160	0.650000	0.86243	CGG		0.652	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		8	29	0	0	0	0.00308	0	8	29				
GPATCH1	55094	broad.mit.edu	37	19	33588736	33588736	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:33588736G>A	ENST00000170564.2	+	8	1242	c.928G>A	c.(928-930)Gtt>Att	p.V310I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	310					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTATGACACTGTTCTGAAGGA	0.453																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	0				skin(1)	1						c.(928-930)GTT>ATT		G patch domain containing 1							194.0	194.0	194.0					19																	33588736		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33588736G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.928G>A	19.37:g.33588736G>A	ENSP00000170564:p.Val310Ile						p.V310I	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			8	1242	+	Esophageal squamous(110;0.137)		310					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.928G>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226747	0.39399	.	.	ENSG00000076650	ENST00000170564	T	0.13307	2.6	5.83	-0.149	0.13420	.	0.287586	0.37955	N	0.001862	T	0.08626	0.0214	L	0.31476	0.935	0.35567	D	0.805197	B	0.12013	0.005	B	0.11329	0.006	T	0.30297	-0.9983	10	0.21014	T	0.42	-6.2083	10.1603	0.42847	0.3245:0.0:0.6755:0.0	.	310	Q9BRR8	GPTC1_HUMAN	I	310	ENSP00000170564:V310I	ENSP00000170564:V310I	V	+	1	0	GPATCH1	38280576	0.864000	0.29904	0.012000	0.15200	0.991000	0.79684	1.314000	0.33597	0.080000	0.16959	0.655000	0.94253	GTT		0.453	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		57	142	0	0	0	0.00361	0	57	142				
CD22	933	broad.mit.edu	37	19	35831821	35831821	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:35831821C>T	ENST00000085219.5	+	7	1353	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	CD22_ENST00000544992.2_Silent_p.P429P|CD22_ENST00000270311.6_Silent_p.P309P|CD22_ENST00000594250.1_Silent_p.P252P|CD22_ENST00000536635.2_Silent_p.P341P|CD22_ENST00000419549.2_Silent_p.P257P|CD22_ENST00000341773.6_Silent_p.P252P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	429	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTCAAAACCCCATGCCGATTC	0.512																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(1285-1287)CCC>CCT		CD22 molecule precursor	OspA lipoprotein(DB00045)						131.0	117.0	122.0					19																	35831821		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35831821C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1287C>T	19.37:g.35831821C>T						CD22_uc010xst.1_Silent_p.P257P|CD22_uc010edu.2_Silent_p.P341P|CD22_uc010edv.2_Silent_p.P429P|CD22_uc002nzb.3_Silent_p.P252P|CD22_uc010edx.2_RNA	p.P429P	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1364	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		429			Extracellular (Potential).|Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1287C>T	CCDS12457.1																																																																																				0.512	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		9	23	0	0	0	0.008291	0	9	23				
KMT2B	9757	broad.mit.edu	37	19	36216509	36216509	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:36216509A>G	ENST00000222270.7	+	12	3772	c.3772A>G	c.(3772-3774)Aaa>Gaa	p.K1258E	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.K1258E	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1258					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGTGGACGCAAAGGTCGTGG	0.637																																							uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3772-3774)AAA>GAA		myeloid/lymphoid or mixed-lineage leukemia 4							78.0	85.0	83.0					19																	36216509		2082	4206	6288	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36216509A>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3772A>G	19.37:g.36216509A>G	ENSP00000222270:p.Lys1258Glu						p.K1258E	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		13	3772	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1258			PHD-type 2.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3772A>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567777	0.45798	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.87412	-2.25;-2.25	5.54	5.54	0.83059	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47455	D	0.000237	D	0.89791	0.6817	L	0.42245	1.32	0.51482	D	0.99992	D	0.61080	0.989	P	0.62089	0.898	D	0.90273	0.4309	10	0.56958	D	0.05	.	14.7997	0.69906	1.0:0.0:0.0:0.0	.	1258	Q9UMN6	MLL4_HUMAN	E	1258	ENSP00000222270:K1258E;ENSP00000398837:K1258E	ENSP00000222270:K1258E	K	+	1	0	AD000671.1	40908349	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.790000	0.47821	2.326000	0.78906	0.533000	0.62120	AAA		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		22	46	0	0	0	0.001523	0	22	46				
NPHS1	4868	broad.mit.edu	37	19	36334447	36334447	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:36334447C>A	ENST00000378910.5	-	17	2260	c.2261G>T	c.(2260-2262)gGg>gTg	p.G754V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G754V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	754	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACAGAACCCCCGACGTTCAC	0.592																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(2260-2262)GGG>GTG		nephrin precursor							127.0	110.0	116.0					19																	36334447		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334447C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2261G>T	19.37:g.36334447C>A	ENSP00000368190:p.Gly754Val						p.G754V	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2261	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		754			Ig-like C2-type 7.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2261G>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838738	0.71373	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86366	-2.11;-2.11	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95582	0.8647	10	0.87932	D	0	-28.444	14.3119	0.66422	0.0:1.0:0.0:0.0	.	754	O60500	NPHN_HUMAN	V	754	ENSP00000368190:G754V;ENSP00000343634:G754V	ENSP00000343634:G754V	G	-	2	0	NPHS1	41026287	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.194000	0.65125	2.532000	0.85374	0.456000	0.33151	GGG		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			26	37	1	0	4.02929e-09	0.002096	6.07561e-09	26	37				
ZFP30	22835	broad.mit.edu	37	19	38127134	38127134	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:38127134C>A	ENST00000351218.2	-	6	865	c.308G>T	c.(307-309)tGg>tTg	p.W103L	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.W103L|ZFP30_ENST00000392144.1_Missense_Mutation_p.W103L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	103					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTACCTTCCACTGAGATAA	0.338																																							uc002ogv.1		NA																	0					0						c.(307-309)TGG>TTG		zinc finger protein 30 homolog							52.0	51.0	51.0					19																	38127134		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127134C>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.308G>T	19.37:g.38127134C>A	ENSP00000343581:p.Trp103Leu					ZFP30_uc002ogw.1_Missense_Mutation_p.W103L|ZFP30_uc002ogx.1_Missense_Mutation_p.W103L|ZFP30_uc010xtt.1_Missense_Mutation_p.W102L	p.W103L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	824	-			103					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.308G>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	5.873	0.345159	0.11126	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05081	3.5;3.5;3.5	3.26	3.26	0.37387	.	0.000000	0.32785	N	0.005655	T	0.03695	0.0105	L	0.28400	0.85	0.38210	D	0.940453	P;P	0.39282	0.666;0.666	B;B	0.33339	0.162;0.162	T	0.46665	-0.9175	10	0.09590	T	0.72	.	8.7818	0.34795	0.0:0.8845:0.0:0.1155	.	103;103	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	L	103;103;103;102	ENSP00000343581:W103L;ENSP00000422930:W103L;ENSP00000375988:W103L	ENSP00000343581:W103L	W	-	2	0	ZFP30	42818974	0.123000	0.22298	1.000000	0.80357	0.822000	0.46500	2.327000	0.43858	2.124000	0.65301	0.561000	0.74099	TGG		0.338	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		19	20	1	0	1.33834e-09	0.007413	2.0308e-09	19	20				
RYR1	6261	broad.mit.edu	37	19	38990296	38990296	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:38990296C>G	ENST00000359596.3	+	44	7049	c.7049C>G	c.(7048-7050)gCc>gGc	p.A2350G	RYR1_ENST00000355481.4_Missense_Mutation_p.A2350G|RYR1_ENST00000360985.3_Missense_Mutation_p.A2350G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2350	6 X approximate repeats.		A -> T (in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity). {ECO:0000269|PubMed:11525881, ECO:0000269|PubMed:15448513, ECO:0000269|PubMed:16163667}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGAGAACGCCAATGTGGTG	0.667																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7048-7050)GCC>GGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						43.0	38.0	40.0					19																	38990296		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990296C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7049C>G	19.37:g.38990296C>G	ENSP00000352608:p.Ala2350Gly					RYR1_uc002oiu.2_Missense_Mutation_p.A2350G|RYR1_uc002oiv.1_5'UTR	p.A2350G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7179	+	all_cancers(60;7.91e-06)		2350		A -> T (in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity).	Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7049C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395922	0.62177	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96522	-4.04;-4.04;-4.04	3.82	3.82	0.43975	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000003	D	0.97701	0.9246	M	0.74647	2.275	0.52501	D	0.999954	D;P	0.67145	0.996;0.596	D;B	0.77557	0.99;0.291	D	0.98579	1.0649	10	0.87932	D	0	.	15.4896	0.75593	0.0:1.0:0.0:0.0	.	2350;2350	P21817-2;P21817	.;RYR1_HUMAN	G	2350	ENSP00000352608:A2350G;ENSP00000347667:A2350G;ENSP00000354254:A2350G	ENSP00000347667:A2350G	A	+	2	0	RYR1	43682136	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.917000	0.69989	1.960000	0.56953	0.297000	0.19635	GCC		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	17	0	0	0	0.004672	0	3	17				
RYR1	6261	broad.mit.edu	37	19	39062816	39062816	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:39062816A>T	ENST00000359596.3	+	95	13904	c.13904A>T	c.(13903-13905)gAa>gTa	p.E4635V	RYR1_ENST00000355481.4_Missense_Mutation_p.E4630V|RYR1_ENST00000360985.3_Missense_Mutation_p.E4630V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4635					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCCTGGAGGAAAGCACAGGC	0.587																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(13903-13905)GAA>GTA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						153.0	129.0	137.0					19																	39062816		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39062816A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13904A>T	19.37:g.39062816A>T	ENSP00000352608:p.Glu4635Val					RYR1_uc002oiu.2_Missense_Mutation_p.E4630V	p.E4635V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		95	14034	+	all_cancers(60;7.91e-06)		4635					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.13904A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940672	0.52972	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96200	-3.94;-3.94;-3.94	5.23	5.23	0.72850	Ryanodine Receptor TM 4-6 (1);	0.074525	0.50627	U	0.000113	D	0.97748	0.9261	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.9463	0.71035	1.0:0.0:0.0:0.0	.	4630;4635	P21817-2;P21817	.;RYR1_HUMAN	V	4635;4630;4630	ENSP00000352608:E4635V;ENSP00000347667:E4630V;ENSP00000354254:E4630V	ENSP00000347667:E4630V	E	+	2	0	RYR1	43754656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.906000	0.92626	2.200000	0.70718	0.459000	0.35465	GAA		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			25	48	0	0	0	0.005443	0	25	48				
LRFN1	57622	broad.mit.edu	37	19	39805183	39805183	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:39805183C>A	ENST00000248668.4	-	1	793	c.794G>T	c.(793-795)cGg>cTg	p.R265L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	265	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGGGTCAGCCGCCGCAGCCA	0.692																																							uc002okw.2		NA																	0				ovary(2)	2						c.(793-795)CGG>CTG		leucine rich repeat and fibronectin type III							15.0	21.0	19.0					19																	39805183		2186	4284	6470	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805183C>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.794G>T	19.37:g.39805183C>A	ENSP00000248668:p.Arg265Leu						p.R265L	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	794	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		265			LRRCT.|Extracellular (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.794G>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393255	0.83011	.	.	ENSG00000128011	ENST00000248668	T	0.53206	0.63	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.40385	N	0.001115	T	0.66723	0.2818	M	0.71920	2.185	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.70799	-0.4774	10	0.66056	D	0.02	.	14.2826	0.66224	0.0:1.0:0.0:0.0	.	265	Q9P244	LRFN1_HUMAN	L	265	ENSP00000248668:R265L	ENSP00000248668:R265L	R	-	2	0	LRFN1	44497023	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.610000	0.82949	2.234000	0.73211	0.491000	0.48974	CGG		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		6	1	1	0	1.06961e-07	0.00308	1.54482e-07	6	1				
ADCK4	79934	broad.mit.edu	37	19	41220260	41220260	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:41220260C>A	ENST00000324464.3	-	3	446	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	ADCK4_ENST00000450541.1_Missense_Mutation_p.G49W|ADCK4_ENST00000243583.6_Missense_Mutation_p.G49W|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	49						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTCCCAGGCCCATCCTGGTAA	0.602																																							uc002oor.2		NA																	0					0						c.(145-147)GGG>TGG		aarF domain containing kinase 4 isoform a							69.0	73.0	72.0					19																	41220260		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41220260C>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.145G>T	19.37:g.41220260C>A	ENSP00000315118:p.Gly49Trp					ADCK4_uc002ooq.1_Missense_Mutation_p.G49W|ADCK4_uc002oos.2_Missense_Mutation_p.G49W|ITPKC_uc002oot.2_5'Flank	p.G49W	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		3	447	-			49					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.145G>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	c	16.65	3.181917	0.57800	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.74842	-0.88;-0.48;-0.48	4.92	-1.22	0.09494	.	0.991564	0.08206	N	0.981478	T	0.73674	0.3617	L	0.40543	1.245	0.09310	N	1	P;D	0.54772	0.946;0.968	P;P	0.58013	0.682;0.831	T	0.62364	-0.6870	10	0.72032	D	0.01	0.5359	5.121	0.14860	0.0:0.5192:0.1466:0.3341	.	49;49	Q96D53;Q96D53-2	ADCK4_HUMAN;.	W	49	ENSP00000315118:G49W;ENSP00000412839:G49W;ENSP00000243583:G49W	ENSP00000243583:G49W	G	-	1	0	ADCK4	45912100	0.006000	0.16342	0.069000	0.20011	0.956000	0.61745	0.408000	0.21065	-0.261000	0.09405	0.556000	0.70494	GGG		0.602	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		19	31	1	0	1.33834e-09	0.007413	2.0308e-09	19	31				
CEACAM5	1048	broad.mit.edu	37	19	42219636	42219636	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:42219636C>A	ENST00000221992.6	+	4	885	c.771C>A	c.(769-771)ctC>ctA	p.L257L	CEACAM5_ENST00000405816.1_Silent_p.L257L|CEACAM5_ENST00000398599.4_Silent_p.L257L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	257	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATCTGAACCTCTCCTGCCACG	0.498																																							uc002ork.2		NA																	0				skin(2)	2						c.(769-771)CTC>CTA		carcinoembryonic antigen-related cell adhesion							92.0	88.0	89.0					19																	42219636		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219636C>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.771C>A	19.37:g.42219636C>A						CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Silent_p.L257L|CEACAM5_uc002orl.2_Silent_p.L257L	p.L257L	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	4	892	+			257			Ig-like 3.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.771C>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.371	-0.586148	0.03827	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.19	2.02	0.26589	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.41829	D	0.990067	.	.	.	.	.	.	T	0.67891	-0.5553	5	0.87932	D	0	.	8.6695	0.34140	0.0:0.7642:0.2358:0.0	.	.	.	.	I	254	.	ENSP00000381600:L254I	L	+	1	0	CEACAM5	46911476	0.247000	0.23920	0.722000	0.30670	0.328000	0.28507	0.573000	0.23699	1.512000	0.48834	0.313000	0.20887	CTC		0.498	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		19	23	1	0	5.3912e-06	0.006122	7.36491e-06	19	23				
ARHGEF1	9138	broad.mit.edu	37	19	42410694	42410694	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:42410694C>A	ENST00000354532.3	+	27	2725	c.2577C>A	c.(2575-2577)ggC>ggA	p.G859G	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000599846.1_Silent_p.G915G|ARHGEF1_ENST00000347545.4_Silent_p.G826G|ARHGEF1_ENST00000337665.4_Silent_p.G874G	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	859					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCCAGGGGGCGGCCCCCTGA	0.677																																							uc002orx.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2575-2577)GGC>GGA		Rho guanine nucleotide exchange factor 1 isoform							22.0	25.0	24.0					19																	42410694		2201	4298	6499	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410694C>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2577C>A	19.37:g.42410694C>A						ARHGEF1_uc002ory.2_Silent_p.G826G|ARHGEF1_uc002orz.2_Silent_p.G697G|ARHGEF1_uc002osa.2_Silent_p.G874G|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Silent_p.G518G|ARHGEF1_uc002ose.2_Silent_p.G303G	p.G859G	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	27	2686	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	859					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.2577C>A	CCDS12591.1																																																																																				0.677	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		7	18	1	0	8.12818e-05	0.001984	0.00010678	7	18				
ZNF225	7768	broad.mit.edu	37	19	44635327	44635327	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:44635327A>T	ENST00000262894.6	+	5	840	c.560A>T	c.(559-561)tAt>tTt	p.Y187F	ZNF225_ENST00000590612.1_Missense_Mutation_p.Y187F|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTTTCTGTTATAGCTCAGCT	0.398																																							uc002oyj.1		NA																	0					0						c.(559-561)TAT>TTT		zinc finger protein 225							82.0	86.0	85.0					19																	44635327		2144	4280	6424	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635327A>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.560A>T	19.37:g.44635327A>T	ENSP00000262894:p.Tyr187Phe					ZNF225_uc010eje.1_Missense_Mutation_p.Y104F|ZNF225_uc010ejf.1_Missense_Mutation_p.Y187F	p.Y187F	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	803	+		Prostate(69;0.0352)|all_neural(266;0.202)	187			C2H2-type 1.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.560A>T	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	7.630	0.678650	0.14841	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.00995	5.46	2.75	0.549	0.17213	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	L	0.31420	0.93	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.49466	-0.8937	9	0.13470	T	0.59	.	3.4926	0.07644	0.555:0.2008:0.2441:0.0	.	187	Q9UK10	ZN225_HUMAN	F	187;151	ENSP00000262894:Y187F	ENSP00000262894:Y187F	Y	+	2	0	ZNF225	49327167	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-1.155000	0.03163	-0.069000	0.12931	0.459000	0.35465	TAT		0.398	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			20	33	0	0	0	0.007413	0	20	33				
SYMPK	8189	broad.mit.edu	37	19	46357498	46357498	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:46357498C>A	ENST00000245934.7	-	3	350	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	36	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGATCCACCACCTGGAAGGAG	0.632																																							uc002pdn.2		NA																	0				ovary(1)	1						c.(106-108)GTG>TTG		symplekin							52.0	56.0	55.0					19																	46357498		1989	4154	6143	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46357498C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.106-1G>T	19.37:g.46357498C>A						SYMPK_uc002pdo.1_Missense_Mutation_p.V36L|SYMPK_uc002pdp.1_Missense_Mutation_p.V36L|SYMPK_uc002pdq.1_Missense_Mutation_p.V36L	p.V36L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	3	351	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	36			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.106G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797602	0.70567	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.25579	1.79	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	M	0.72353	2.195	0.80722	D	1	D;P	0.53462	0.96;0.896	P;B	0.45712	0.491;0.38	T	0.33007	-0.9885	10	0.72032	D	0.01	.	15.8944	0.79323	0.0:1.0:0.0:0.0	.	51;36	Q4LE61;Q92797	.;SYMPK_HUMAN	L	36;40	ENSP00000245934:V36L	ENSP00000245934:V36L	V	-	1	0	SYMPK	51049338	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.274000	0.72587	2.632000	0.89209	0.644000	0.83932	GTG		0.632	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Missense_Mutation	10	23	1	0	6.40141e-05	0.000978	8.45586e-05	10	23				
DHX34	9704	broad.mit.edu	37	19	47876150	47876150	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:47876150G>C	ENST00000328771.4	+	8	2281	c.1932G>C	c.(1930-1932)acG>acC	p.T644T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	644					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACCCCTTCACGCTCTTCAACG	0.677																																							uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1930-1932)ACG>ACC		DEAH (Asp-Glu-Ala-His) box polypeptide 34							33.0	31.0	32.0					19																	47876150		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876150G>C	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1932G>C	19.37:g.47876150G>C						DHX34_uc010elc.1_Silent_p.T559T	p.T644T	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	8	2273	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	644					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.1932G>C	CCDS12700.1																																																																																				0.677	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		11	16	0	0	0	0.00245	0	11	16				
RASIP1	54922	broad.mit.edu	37	19	49238578	49238578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:49238578C>A	ENST00000222145.4	-	4	1258	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	352					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TCGGCTGCCCCTGGGGCCATG	0.647																																							uc002pki.2		NA																	0				pancreas(1)	1						c.(1054-1056)GGG>TGG		Ras-interacting protein 1							35.0	34.0	34.0					19																	49238578		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238578C>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1054G>T	19.37:g.49238578C>A	ENSP00000222145:p.Gly352Trp						p.G352W	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1251	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	352					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.1054G>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238534	0.79800	.	.	ENSG00000105538	ENST00000222145	T	0.07444	3.19	5.27	5.27	0.74061	.	0.072894	0.52532	D	0.000063	T	0.16041	0.0386	N	0.22421	0.69	0.47009	D	0.99928	D	0.69078	0.997	D	0.66602	0.945	T	0.01232	-1.1411	10	0.72032	D	0.01	-17.7688	14.7501	0.69519	0.0:1.0:0.0:0.0	.	352	Q5U651	RAIN_HUMAN	W	352	ENSP00000222145:G352W	ENSP00000222145:G352W	G	-	1	0	RASIP1	53930390	0.986000	0.35501	1.000000	0.80357	0.965000	0.64279	2.801000	0.47908	2.630000	0.89119	0.561000	0.74099	GGG		0.647	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		13	12	1	0	5.50884e-06	0.001368	7.50423e-06	13	12				
SLC17A7	57030	broad.mit.edu	37	19	49933857	49933857	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:49933857G>T	ENST00000221485.3	-	12	1773	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	SLC17A7_ENST00000543531.1_Silent_p.P522P|SLC17A7_ENST00000600601.1_Silent_p.P467P	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	534	Pro-rich.				glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGGTGCAGGGGGTGCCCCCG	0.652																																							uc002pnp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1600-1602)CCC>CCA		solute carrier family 17, member 7							23.0	23.0	23.0					19																	49933857		2198	4295	6493	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933857G>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1602C>A	19.37:g.49933857G>T						SLC17A7_uc002pno.2_Silent_p.P196P	p.P534P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1774	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	534			Cytoplasmic (Potential).|Pro-rich.		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1602C>A	CCDS12764.1																																																																																				0.652	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			10	20	1	0	1.08611e-07	0.000978	1.56628e-07	10	20				
ZNF677	342926	broad.mit.edu	37	19	53741621	53741621	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:53741621A>T	ENST00000598513.1	-	5	509	c.359T>A	c.(358-360)aTg>aAg	p.M120K	ZNF677_ENST00000333952.4_Missense_Mutation_p.M120K|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTCAAAGGCATTCCTTTGTA	0.353																																							uc002qbf.1		NA																	0				ovary(1)	1						c.(358-360)ATG>AAG		zinc finger protein 677							133.0	127.0	129.0					19																	53741621		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741621A>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.359T>A	19.37:g.53741621A>T	ENSP00000469391:p.Met120Lys					ZNF677_uc002qbg.1_Missense_Mutation_p.M120K	p.M120K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	544	-			120						Missense_Mutation	SNP	ENST00000598513.1	37	c.359T>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	0.288	-0.982198	0.02197	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07114	3.22	2.01	-1.58	0.08479	.	2.152280	0.02472	N	0.087666	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.35992	-0.9766	10	0.02654	T	1	.	7.3845	0.26874	0.7369:0.0:0.2631:0.0	.	120	Q86XU0	ZN677_HUMAN	K	120	ENSP00000334394:M120K	ENSP00000334394:M120K	M	-	2	0	ZNF677	58433433	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.960000	0.03849	-0.568000	0.06038	-1.545000	0.00906	ATG		0.353	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		24	49	0	0	0	0.00278	0	24	49				
LILRA6	79168	broad.mit.edu	37	19	54744954	54744954	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:54744954G>T	ENST00000396365.2	-	5	747	c.708C>A	c.(706-708)gcC>gcA	p.A236A	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.A236A|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Silent_p.A236A|LILRA6_ENST00000245621.5_Silent_p.A236A	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	236	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A236A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGCCCAGGGGCCAGGACAG	0.642																																							uc002qeu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(706-708)GCC>GCA		leukocyte immunoglobulin-like receptor,							38.0	46.0	43.0					19																	54744954		2203	4297	6500	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54744954G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.708C>A	19.37:g.54744954G>T						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.A236A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.A236A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A236A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.A236A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.A236A|LILRA6_uc010yeq.1_Silent_p.A236A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.A97A	p.A236A	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	832	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		236			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000396365.2	37	c.708C>A	CCDS42610.1																																																																																				0.642	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		7	33	1	0	5.4927e-09	0.004482	8.20483e-09	7	33				
LILRA2	11027	broad.mit.edu	37	19	55086271	55086271	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55086271G>A	ENST00000251377.3	+	5	559	c.426G>A	c.(424-426)caG>caA	p.Q142Q	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Silent_p.Q130Q|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.Q142Q|LILRA2_ENST00000251376.3_Silent_p.Q142Q			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	142	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCAC	0.557																																							uc002qgg.3		NA																	0				ovary(1)	1						c.(424-426)CAG>CAA		leukocyte immunoglobulin-like receptor,							170.0	155.0	160.0					19																	55086271		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086271G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.426G>A	19.37:g.55086271G>A						LILRA2_uc010ern.2_Silent_p.Q142Q|LILRA2_uc002qgf.2_Silent_p.Q142Q|LILRA2_uc010yfe.1_Silent_p.Q142Q|LILRA2_uc010yff.1_Silent_p.Q130Q|LILRA2_uc010ero.2_Silent_p.Q130Q|LILRA2_uc010yfg.1_Silent_p.Q142Q	p.Q142Q	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	515	+			142			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Silent	SNP	ENST00000251377.3	37	c.426G>A	CCDS46179.1																																																																																				0.557	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			42	56	0	0	0	0.00874	0	42	56				
LILRA1	11024	broad.mit.edu	37	19	55107261	55107261	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55107261C>A	ENST00000251372.3	+	6	1001	c.819C>A	c.(817-819)ccC>ccA	p.P273P	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	273	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCACAGCCCCAGGCTGGGC	0.597																																							uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(817-819)CCC>CCA		leukocyte immunoglobulin-like receptor,							84.0	86.0	85.0					19																	55107261		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107261C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.819C>A	19.37:g.55107261C>A						LILRA2_uc010yfg.1_Silent_p.P271P|LILRA1_uc010yfh.1_Silent_p.P273P	p.P273P	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1001	+			273			Extracellular (Potential).|Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.819C>A	CCDS12901.1																																																																																				0.597	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		23	47	1	0	7.87624e-14	0.00278	1.29559e-13	23	47				
NLRP2	55655	broad.mit.edu	37	19	55501966	55501966	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55501966C>G	ENST00000543010.1	+	10	2777	c.2634C>G	c.(2632-2634)aaC>aaG	p.N878K	NLRP2_ENST00000538819.1_Missense_Mutation_p.N854K|NLRP2_ENST00000427260.2_Missense_Mutation_p.N855K|NLRP2_ENST00000537859.1_Missense_Mutation_p.N856K|NLRP2_ENST00000339757.7_Missense_Mutation_p.N856K|NLRP2_ENST00000263437.6_Missense_Mutation_p.N875K|NLRP2_ENST00000391721.4_Missense_Mutation_p.N854K|NLRP2_ENST00000448584.2_Missense_Mutation_p.N878K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	878					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCCAAGAACCCCATTGGGA	0.537																																							uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(2632-2634)AAC>AAG		NLR family, pyrin domain containing 2							133.0	130.0	131.0					19																	55501966		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501966C>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2634C>G	19.37:g.55501966C>G	ENSP00000445135:p.Asn878Lys					NLRP2_uc010yfp.1_Missense_Mutation_p.N855K|NLRP2_uc010esn.2_Missense_Mutation_p.N854K|NLRP2_uc010eso.2_Missense_Mutation_p.N875K|NLRP2_uc010esp.2_Missense_Mutation_p.N856K	p.N878K	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2720	+			878			LRR 3.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2634C>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668701	0.14776	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	2.31	-1.28	0.09318	.	.	.	.	.	D	0.86581	0.5967	H	0.99074	4.42	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.987;0.995;0.987;0.995	T	0.74022	-0.3798	9	0.72032	D	0.01	.	6.3241	0.21234	0.0:0.6152:0.0:0.3848	.	855;856;875;854;878	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	K	878;854;856;878;856;855;854;875	ENSP00000445135:N878K;ENSP00000375601:N854K;ENSP00000344074:N856K;ENSP00000409370:N878K;ENSP00000440601:N856K;ENSP00000402474:N855K;ENSP00000441133:N854K;ENSP00000263437:N875K	ENSP00000263437:N875K	N	+	3	2	NLRP2	60193778	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.200000	0.03029	-0.364000	0.08088	0.561000	0.74099	AAC		0.537	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		27	27	0	0	0	0.007291	0	27	27				
NLRP13	126204	broad.mit.edu	37	19	56424536	56424536	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56424536T>A	ENST00000342929.3	-	5	646	c.647A>T	c.(646-648)cAg>cTg	p.Q216L	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q216L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	216							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTAGGCGCTGCAGTTCCTC	0.512																																							uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(646-648)CAG>CTG		NACHT, leucine rich repeat and PYD containing							159.0	163.0	162.0					19																	56424536		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424536T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.647A>T	19.37:g.56424536T>A	ENSP00000343891:p.Gln216Leu						p.Q216L	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	672	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	216					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.647A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	7.210	0.595274	0.13875	.	.	ENSG00000173572	ENST00000342929	T	0.79940	-1.32	2.13	-1.9	0.07665	.	.	.	.	.	T	0.58708	0.2141	N	0.14661	0.345	0.09310	N	1	B	0.23891	0.093	B	0.21151	0.033	T	0.42582	-0.9443	9	0.39692	T	0.17	.	2.3739	0.04337	0.2429:0.379:0.0:0.3781	.	216	Q86W25	NAL13_HUMAN	L	216	ENSP00000343891:Q216L	ENSP00000343891:Q216L	Q	-	2	0	NLRP13	61116348	0.023000	0.18921	0.000000	0.03702	0.009000	0.06853	-0.235000	0.09016	-0.538000	0.06281	0.482000	0.46254	CAG		0.512	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		37	60	0	0	0	0.003755	0	37	60				
NLRP8	126205	broad.mit.edu	37	19	56466135	56466135	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56466135C>A	ENST00000291971.3	+	3	782	c.711C>A	c.(709-711)cgC>cgA	p.R237R	NLRP8_ENST00000590542.1_Silent_p.R237R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	237	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCACAAGCGCTGGTGTGCTT	0.532																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(709-711)CGC>CGA		NLR family, pyrin domain containing 8							115.0	101.0	106.0					19																	56466135		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466135C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.711C>A	19.37:g.56466135C>A						NLRP8_uc010etg.2_Silent_p.R237R	p.R237R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	782	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	237			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.711C>A	CCDS12937.1																																																																																				0.532	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		32	42	1	0	1.61788e-16	0.002445	2.84166e-16	32	42				
NLRP8	126205	broad.mit.edu	37	19	56467457	56467457	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56467457C>A	ENST00000291971.3	+	3	2104	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	NLRP8_ENST00000590542.1_Missense_Mutation_p.P678H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	678					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCCCATCCTGGCTCTGAG	0.552																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2032-2034)CCT>CAT		NLR family, pyrin domain containing 8							100.0	94.0	96.0					19																	56467457		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467457C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2033C>A	19.37:g.56467457C>A	ENSP00000291971:p.Pro678His					NLRP8_uc010etg.2_Missense_Mutation_p.P678H	p.P678H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	2104	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	678					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2033C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	1.029	-0.682479	0.03353	.	.	ENSG00000179709	ENST00000291971	D	0.89270	-2.49	1.86	-3.71	0.04424	.	.	.	.	.	T	0.70736	0.3258	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.53704	-0.8401	9	0.36615	T	0.2	.	1.5665	0.02605	0.4958:0.2063:0.1643:0.1336	.	678;678	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	678	ENSP00000291971:P678H	ENSP00000291971:P678H	P	+	2	0	NLRP8	61159269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.545000	0.02190	-1.704000	0.01407	-1.353000	0.01230	CCT		0.552	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		16	27	1	0	3.45872e-05	0.004007	4.60682e-05	16	27				
ZNF470	388566	broad.mit.edu	37	19	57085817	57085817	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57085817T>C	ENST00000330619.8	+	4	801	c.115T>C	c.(115-117)Tgg>Cgg	p.W39R	ZNF470_ENST00000391709.3_Missense_Mutation_p.W39R|ZNF470_ENST00000601902.1_Missense_Mutation_p.W39R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGGGAGTGGCTGAATCT	0.428																																							uc002qnl.3		NA																	0				ovary(1)|pancreas(1)	2						c.(115-117)TGG>CGG		zinc finger protein 470							202.0	178.0	186.0					19																	57085817		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57085817T>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.115T>C	19.37:g.57085817T>C	ENSP00000333223:p.Trp39Arg					ZNF470_uc010etn.2_RNA	p.W39R	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	4	791	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	39			KRAB.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.115T>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	T	0.605	-0.827492	0.02734	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.01572	4.76;4.76	3.28	1.18	0.20946	Krueppel-associated box (4);	.	.	.	.	T	0.02888	0.0086	N	0.25647	0.755	0.09310	N	1	D	0.61697	0.99	P	0.59357	0.856	T	0.51834	-0.8655	9	0.23891	T	0.37	.	6.1697	0.20410	0.0:0.2392:0.0:0.7608	.	39	Q6ECI4	ZN470_HUMAN	R	39	ENSP00000375590:W39R;ENSP00000333223:W39R	ENSP00000333223:W39R	W	+	1	0	ZNF470	61777629	0.000000	0.05858	0.881000	0.34555	0.404000	0.30871	-0.043000	0.12043	0.462000	0.27095	-0.263000	0.10527	TGG		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		45	53	0	0	0	0.002522	0	45	53				
PEG3	5178	broad.mit.edu	37	19	57328466	57328466	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57328466C>A	ENST00000326441.9	-	10	1707	c.1344G>T	c.(1342-1344)ggG>ggT	p.G448G	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.G448G|PEG3_ENST00000593695.1_Silent_p.G322G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.G324G|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	448					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)		ATGGCATTGCCCCAAAATCAA	0.483																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1342-1344)GGG>GGT		paternally expressed 3 isoform 1							183.0	165.0	171.0					19																	57328466		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328466C>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.1344G>T	19.37:g.57328466C>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G419G|PEG3_uc002qnv.2_Silent_p.G448G|PEG3_uc002qnw.2_Silent_p.G324G|PEG3_uc002qnx.2_Silent_p.G322G|PEG3_uc010etr.2_Silent_p.G448G	p.G448G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1695	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	448					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1344G>T	CCDS12948.1																																																																																				0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			32	65	1	0	1.61788e-16	0.002445	2.84166e-16	32	65				
ZNF543	125919	broad.mit.edu	37	19	57839116	57839116	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57839116C>G	ENST00000321545.4	+	4	631	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	96					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)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		CTTTTCTCACCTGGCCTTGCC	0.458																																							uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						c.(286-288)CTG>GTG		zinc finger protein 543							79.0	79.0	79.0					19																	57839116		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839116C>G	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.286C>G	19.37:g.57839116C>G	ENSP00000322545:p.Leu96Val						p.L96V	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	631	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	96					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.286C>G	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	6.552	0.470104	0.12461	.	.	ENSG00000178229	ENST00000321545	T	0.23754	1.89	2.75	1.7	0.24286	.	.	.	.	.	T	0.14874	0.0359	L	0.29908	0.895	0.09310	N	1	B	0.29716	0.255	B	0.26614	0.071	T	0.16571	-1.0398	9	0.27082	T	0.32	.	4.8912	0.13728	0.0:0.8241:0.0:0.1759	.	96	Q08ER8	ZN543_HUMAN	V	96	ENSP00000322545:L96V	ENSP00000322545:L96V	L	+	1	2	ZNF543	62530928	0.000000	0.05858	0.009000	0.14445	0.051000	0.14879	0.522000	0.22909	1.543000	0.49345	0.555000	0.69702	CTG		0.458	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		16	55	0	0	0	0.003163	0	16	55				
ZNF132	7691	broad.mit.edu	37	19	58945522	58945522	+	Missense_Mutation	SNP	G	G	T	rs200662557		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:58945522G>T	ENST00000254166.3	-	3	1689	c.1289C>A	c.(1288-1290)cCg>cAg	p.P430Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCATTCATACGGTCTTTCTCC	0.468																																							uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1288-1290)CCG>CAG		zinc finger protein 132							128.0	125.0	126.0					19																	58945522		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945522G>T	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1289C>A	19.37:g.58945522G>T	ENSP00000254166:p.Pro430Gln						p.P430Q	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1690	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	430					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1289C>A	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439684	0.63067	.	.	ENSG00000131849	ENST00000254166	T	0.28454	1.61	3.43	2.38	0.29361	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56187	0.1968	M	0.85197	2.74	0.32681	N	0.515455	D	0.89917	1.0	D	0.85130	0.997	T	0.66677	-0.5863	9	0.87932	D	0	.	9.9133	0.41419	0.1083:0.0:0.8917:0.0	.	430	P52740	ZN132_HUMAN	Q	430	ENSP00000254166:P430Q	ENSP00000254166:P430Q	P	-	2	0	ZNF132	63637334	0.997000	0.39634	0.004000	0.12327	0.939000	0.58152	2.528000	0.45624	0.727000	0.32360	0.655000	0.94253	CCG		0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		52	40	1	0	5.13769e-22	0.00361	9.79531e-22	52	40				
FAM110C	642273	broad.mit.edu	37	2	45522	45522	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:45522C>T	ENST00000327669.4	-	1	863	c.864G>A	c.(862-864)gaG>gaA	p.E288E	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	288					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GGGCGTTCCTCTCGATGACCG	0.657																																							uc010yim.1		NA																	0					0						c.(862-864)GAG>GAA		hypothetical protein LOC642273							58.0	66.0	63.0					2																	45522		2086	4213	6299	SO:0001819	synonymous_variant	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45522C>T	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.864G>A	2.37:g.45522C>T							p.E288E	NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	864	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	288						Silent	SNP	ENST00000327669.4	37	c.864G>A	CCDS42645.1																																																																																				0.657	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		9	52	0	0	0	0.008291	0	9	52				
ATAD2B	54454	broad.mit.edu	37	2	24005766	24005766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:24005766C>A	ENST00000238789.5	-	22	3449	c.3106G>T	c.(3106-3108)Gag>Tag	p.E1036*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1036	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTATACTCTAAAGCATTG	0.358																																							uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(3106-3108)GAG>TAG		ATPase family, AAA domain containing 2B							102.0	96.0	98.0					2																	24005766		1855	4099	5954	SO:0001587	stop_gained	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24005766C>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3106G>T	2.37:g.24005766C>A	ENSP00000238789:p.Glu1036*					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Nonsense_Mutation_p.E276*|ATAD2B_uc002rej.3_Nonsense_Mutation_p.E204*	p.E1036*	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			22	3400	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1036			Bromo.		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	c.3106G>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.350978|11.350978	0.99550|0.99550	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.676002|.	0.14673|.	N|.	0.305219|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.45353|.	T|.	0.12|.	.|.	19.5389|19.5389	0.95266|0.95266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	1036;204|311	.|.	ENSP00000238789:E1036X|.	E|X	-|-	1|3	0|2	ATAD2B|ATAD2B	23859270|23859270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.689000|2.689000	0.91719|0.91719	0.591000|0.591000	0.81541|0.81541	GAG|TAG		0.358	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		34	23	1	0	2.6416e-12	0.00623	4.22216e-12	34	23				
CGREF1	10669	broad.mit.edu	37	2	27327173	27327173	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:27327173G>A	ENST00000260595.5	-	2	354	c.62C>T	c.(61-63)cCa>cTa	p.P21L	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.P143L|CGREF1_ENST00000405600.1_Missense_Mutation_p.P21L|CGREF1_ENST00000312734.4_Missense_Mutation_p.P21L|CGREF1_ENST00000402550.1_Missense_Mutation_p.P21L|CGREF1_ENST00000402394.1_Missense_Mutation_p.P21L			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	21					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P21Q(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATCCTTTGGGGCAGCCTG	0.562																																							uc010eys.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(61-63)CCA>CTA		cell growth regulator with EF-hand domain 1							73.0	64.0	67.0					2																	27327173		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27327173G>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.62C>T	2.37:g.27327173G>A	ENSP00000260595:p.Pro21Leu					CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_5'UTR|CGREF1_uc002riq.2_Missense_Mutation_p.P21L|CGREF1_uc010eyr.1_Missense_Mutation_p.P143L|CGREF1_uc002rir.1_Missense_Mutation_p.P21L|CGREF1_uc002ris.2_Missense_Mutation_p.P21L	p.P21L	NM_006569	NP_006560	Q99674	CGRE1_HUMAN			2	204	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		21					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.62C>T		.	.	.	.	.	.	.	.	.	.	G	19.01	3.743618	0.69418	.	.	ENSG00000138028	ENST00000402550;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.28	4.4	0.53042	.	0.063402	0.64402	N	0.000006	T	0.26991	0.0661	L	0.36672	1.1	0.58432	D	0.999994	D;P;P	0.56521	0.976;0.94;0.94	P;B;B	0.45538	0.484;0.389;0.389	T	0.03384	-1.1042	10	0.59425	D	0.04	-17.554	9.5807	0.39486	0.0939:0.0:0.9061:0.0	.	143;21;21	B5MCC9;B5MCP5;Q99674	.;.;CGRE1_HUMAN	L	21;21;21;21;21;143;21	ENSP00000385452:P21L;ENSP00000386113:P21L;ENSP00000324025:P21L;ENSP00000385574:P143L;ENSP00000260595:P21L	ENSP00000260595:P21L	P	-	2	0	CGREF1	27180677	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.120000	0.57897	1.463000	0.47967	0.650000	0.86243	CCA		0.562	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		19	29	0	0	0	0.001882	0	19	29				
IFT172	26160	broad.mit.edu	37	2	27676886	27676886	+	Missense_Mutation	SNP	C	C	T	rs141440865	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:27676886C>T	ENST00000260570.3	-	33	3777	c.3674G>A	c.(3673-3675)cGg>cAg	p.R1225Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1225					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCTCTGGGCCCGGAGCAGCAG	0.622																																							uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3673-3675)CGG>CAG		selective LIM binding factor homolog		C	GLN/ARG	1,4405		0,1,2202	46.0	54.0	52.0		3674	5.7	1.0	2	dbSNP_134	52	2,8596		0,2,4297	yes	missense	IFT172	NM_015662.1	43	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	1225/1750	27676886	3,13001	2203	4299	6502	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27676886C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3674G>A	2.37:g.27676886C>T	ENSP00000260570:p.Arg1225Gln					IFT172_uc010ezb.2_RNA	p.R1225Q	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			33	3725	-	Acute lymphoblastic leukemia(172;0.155)		1225					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3674G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	37	6.021523	0.97211	2.27E-4	2.33E-4	ENSG00000138002	ENST00000260570	T	0.50277	0.75	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.89214	3.015	0.80722	D	1	D	0.54397	0.966	P	0.45099	0.469	T	0.70263	-0.4920	10	0.51188	T	0.08	-16.0042	18.3852	0.90464	0.0:1.0:0.0:0.0	.	1225	Q9UG01	IF172_HUMAN	Q	1225	ENSP00000260570:R1225Q	ENSP00000260570:R1225Q	R	-	2	0	IFT172	27530390	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.506000	0.66993	2.693000	0.91896	0.462000	0.41574	CGG		0.622	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		50	81	0	0	0	0.00361	0	50	81				
SRBD1	55133	broad.mit.edu	37	2	45778281	45778282	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:45778281_45778282GC>AT	ENST00000263736.4	-	12	1719_1720	c.1657_1658GC>AT	c.(1657-1659)GCt>ATt	p.A553I	SRBD1_ENST00000535761.1_Missense_Mutation_p.A72I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	553					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGAAATTATAGCTAATTTGCAA	0.391																																							uc002rus.2		NA																	0				central_nervous_system(1)	1						c.(1657-1659)GCT>ATT		S1 RNA binding domain 1																																				SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45778281_45778282GC>AT	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1657_1658delinsAT	2.37:g.45778281_45778282delinsAT	ENSP00000263736:p.Ala553Ile					SRBD1_uc010yoc.1_Missense_Mutation_p.A72I	p.A553I	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		12	1733_1734	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	553					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	DNP	ENST00000263736.4	37	c.1657_1658GC>AT	CCDS1823.1																																																																																				0.391	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		22	30	0	0	0	0.004672	0	22	30				
PSME4	23198	broad.mit.edu	37	2	54146345	54146345	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:54146345C>A	ENST00000404125.1	-	20	2514	c.2459G>T	c.(2458-2460)tGt>tTt	p.C820F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	820					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCAATTAAACAGTTGTGCAC	0.333																																							uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2458-2460)TGT>TTT		proteasome (prosome, macropain) activator							84.0	84.0	84.0					2																	54146345		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54146345C>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2459G>T	2.37:g.54146345C>A	ENSP00000384211:p.Cys820Phe					PSME4_uc010yop.1_Missense_Mutation_p.C706F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.C195F|PSME4_uc010fbv.1_Intron	p.C820F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		20	2515	-			820					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2459G>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687655	0.88639	.	.	ENSG00000068878	ENST00000404125	T	0.22539	1.95	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.64997	1.995	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.62382	0.901;0.724	T	0.04708	-1.0932	10	0.35671	T	0.21	.	19.8365	0.96659	0.0:1.0:0.0:0.0	.	195;820	Q14997-2;Q14997	.;PSME4_HUMAN	F	820	ENSP00000384211:C820F	ENSP00000384211:C820F	C	-	2	0	PSME4	53999849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.611000	0.82962	2.694000	0.91930	0.467000	0.42956	TGT		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		20	40	1	0	5.35356e-11	0.00278	8.37531e-11	20	40				
VRK2	7444	broad.mit.edu	37	2	58311222	58311222	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:58311222A>T	ENST00000435505.2	+	6	881		c.e6-1		VRK2_ENST00000417641.2_Splice_Site|VRK2_ENST00000440705.2_Splice_Site|VRK2_ENST00000340157.4_Splice_Site|VRK2_ENST00000412104.2_Splice_Site			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2						cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTTGTCTGCAGCTTTCCCCA	0.328																																							uc002rzo.2		NA																	0				ovary(1)	1						c.e6-2		vaccinia related kinase 2 isoform 2							158.0	160.0	159.0					2																	58311222		2203	4300	6503	SO:0001630	splice_region_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58311222A>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.137-1A>T	2.37:g.58311222A>T						VRK2_uc010fcb.2_Splice_Site_p.A46_splice|VRK2_uc002rzs.2_Splice_Site_p.A46_splice|VRK2_uc002rzr.2_Splice_Site_p.A46_splice|VRK2_uc010fcc.2_Splice_Site|VRK2_uc002rzv.2_Splice_Site_p.A46_splice|VRK2_uc010fcd.2_Splice_Site_p.A23_splice|VRK2_uc002rzp.2_Splice_Site_p.A46_splice|VRK2_uc010ypg.1_Splice_Site_p.A46_splice|VRK2_uc002rzq.2_Splice_Site_p.A46_splice|VRK2_uc002rzu.2_Splice_Site_p.A46_splice|VRK2_uc002rzt.2_Splice_Site|VRK2_uc010yph.1_5'Flank	p.A46_splice	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			6	882	+								B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Splice_Site	SNP	ENST00000435505.2	37	c.137_splice	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199829	0.58126	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705;ENST00000428021	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9603	0.53005	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VRK2	58164726	1.000000	0.71417	0.991000	0.47740	0.689000	0.40095	4.515000	0.60489	2.087000	0.62958	0.397000	0.26171	.		0.328	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	Intron	36	55	0	0	0	0.004878	0	36	55				
USP34	9736	broad.mit.edu	37	2	61571046	61571046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:61571046C>A	ENST00000398571.2	-	16	2480	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	802					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAACTAGCTCCTCTTCACAT	0.398																																							uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2404-2406)GAG>TAG		ubiquitin specific protease 34							151.0	137.0	142.0					2																	61571046		1909	4121	6030	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61571046C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2404G>T	2.37:g.61571046C>A	ENSP00000381577:p.Glu802*						p.E802*	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		16	2426	-			802					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.2404G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	40	8.495476	0.98836	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.7396	0.85455	0.0:0.8708:0.1292:0.0	.	.	.	.	X	650;650;802	.	ENSP00000263989:E650X	E	-	1	0	USP34	61424550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.805000	0.86005	1.384000	0.46424	0.603000	0.83216	GAG		0.398	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			20	73	1	0	1.33834e-09	0.007413	2.0308e-09	20	73				
DYSF	8291	broad.mit.edu	37	2	71892314	71892314	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:71892314G>C	ENST00000258104.3	+	46	5357	c.5080G>C	c.(5080-5082)Gac>Cac	p.D1694H	DYSF_ENST00000409762.1_Missense_Mutation_p.D1711H|DYSF_ENST00000410020.3_Missense_Mutation_p.D1733H|DYSF_ENST00000413539.2_Missense_Mutation_p.D1725H|DYSF_ENST00000410041.1_Missense_Mutation_p.D1712H|DYSF_ENST00000409651.1_Missense_Mutation_p.D1726H|DYSF_ENST00000394120.2_Missense_Mutation_p.D1695H|DYSF_ENST00000409744.1_Missense_Mutation_p.D1702H|DYSF_ENST00000409582.3_Missense_Mutation_p.D1732H|DYSF_ENST00000409366.1_Missense_Mutation_p.D1716H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.D1715H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1694					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGTGGCGGGACCAGCTCCG	0.562																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(5080-5082)GAC>CAC		dysferlin isoform 8							100.0	99.0	99.0					2																	71892314		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71892314G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5080G>C	2.37:g.71892314G>C	ENSP00000258104:p.Asp1694His					DYSF_uc010feg.2_Missense_Mutation_p.D1725H|DYSF_uc010feh.2_Missense_Mutation_p.D1701H|DYSF_uc002sig.3_Missense_Mutation_p.D1680H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1715H|DYSF_uc010fef.2_Missense_Mutation_p.D1732H|DYSF_uc010fei.2_Missense_Mutation_p.D1711H|DYSF_uc010fek.2_Missense_Mutation_p.D1712H|DYSF_uc010fej.2_Missense_Mutation_p.D1702H|DYSF_uc010fel.2_Missense_Mutation_p.D1681H|DYSF_uc010feo.2_Missense_Mutation_p.D1726H|DYSF_uc010fem.2_Missense_Mutation_p.D1716H|DYSF_uc010fen.2_Missense_Mutation_p.D1733H|DYSF_uc002sif.2_Missense_Mutation_p.D1695H|DYSF_uc010yqy.1_Missense_Mutation_p.D575H|DYSF_uc010yqz.1_Missense_Mutation_p.D455H	p.D1694H	NM_003494	NP_003485	O75923	DYSF_HUMAN			46	5456	+			1694			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5080G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735676	0.89482	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.45;-2.43;-2.51;-2.44;-2.44;-2.37;-2.36;-2.37;-2.45	5.41	5.41	0.78517	C2 calcium/lipid-binding domain, CaLB (1);	0.106336	0.64402	D	0.000002	D	0.95481	0.8532	M	0.90145	3.09	0.80722	D	1	P;D;D;D;D;P;P;P;D;D;D;D;D;D;D	0.89917	0.778;1.0;1.0;1.0;1.0;0.927;0.822;0.927;0.996;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;P;P;P;D;D;D;D;D;D;D	0.85130	0.635;0.992;0.992;0.992;0.992;0.681;0.57;0.681;0.92;0.992;0.997;0.997;0.992;0.992;0.982	D	0.96186	0.9134	10	0.87932	D	0	-31.2518	16.6972	0.85339	0.0:0.0:1.0:0.0	.	458;1726;1733;1716;1681;1712;1702;1711;1701;1725;1732;1715;1680;1695;1694	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1725;1711;1732;1715;1694;1726;1695;1702;1716;1733;1712	ENSP00000407046:D1725H;ENSP00000387137:D1711H;ENSP00000386547:D1732H;ENSP00000398305:D1715H;ENSP00000258104:D1694H;ENSP00000386683:D1726H;ENSP00000377678:D1695H;ENSP00000386285:D1702H;ENSP00000386512:D1716H;ENSP00000386881:D1733H;ENSP00000386617:D1712H	ENSP00000258104:D1694H	D	+	1	0	DYSF	71745822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.667000	0.83888	2.532000	0.85374	0.655000	0.94253	GAC		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		28	69	0	0	0	0.002836	0	28	69				
RAB11FIP5	26056	broad.mit.edu	37	2	73315800	73315800	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:73315800C>A	ENST00000258098.6	-	3	1186	c.946G>T	c.(946-948)Gct>Tct	p.A316S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	316					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CGAGGAGGAGCCACTCGCATC	0.592																																							uc002siu.3		NA																	0					0						c.(946-948)GCT>TCT		RAB11 family interacting protein 5 (class I)							21.0	23.0	22.0					2																	73315800		2150	4229	6379	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315800C>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.946G>T	2.37:g.73315800C>A	ENSP00000258098:p.Ala316Ser					RAB11FIP5_uc002sit.3_Missense_Mutation_p.A238S	p.A316S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1187	-			316					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.946G>T	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	9.296	1.051969	0.19827	.	.	ENSG00000135631	ENST00000258098	T	0.44083	0.93	4.32	4.32	0.51571	.	0.410669	0.22464	N	0.059701	T	0.26268	0.0641	L	0.31207	0.915	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.19148	0.024;0.024	T	0.15065	-1.0450	10	0.06757	T	0.87	-3.4639	11.1897	0.48677	0.1839:0.8161:0.0:0.0	.	316;316	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	S	316	ENSP00000258098:A316S	ENSP00000258098:A316S	A	-	1	0	RAB11FIP5	73169308	0.000000	0.05858	0.272000	0.24630	0.584000	0.36387	0.349000	0.20055	2.405000	0.81733	0.561000	0.74099	GCT		0.592	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		9	8	1	0	1.12685e-05	0.004482	1.52204e-05	9	8				
MRPL19	9801	broad.mit.edu	37	2	75881930	75881930	+	Missense_Mutation	SNP	C	C	T	rs200525291		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:75881930C>T	ENST00000393909.2	+	5	569	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	MRPL19_ENST00000409374.1_Missense_Mutation_p.R182W|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	182					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						ATTAGAGAAACGGCTGGATGA	0.388																																							uc002snl.2		NA																	0					0						c.(544-546)CGG>TGG		mitochondrial ribosomal protein L19 precursor		C	TRP/ARG	0,3718		0,0,1859	136.0	126.0	129.0		544	5.2	1.0	2		129	1,8189		0,1,4094	no	missense	MRPL19	NM_014763.3	101	0,1,5953	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	182/293	75881930	1,11907	1859	4095	5954	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75881930C>T	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.544C>T	2.37:g.75881930C>T	ENSP00000377486:p.Arg182Trp					MRPL19_uc002snm.1_Missense_Mutation_p.R182W	p.R182W	NM_014763	NP_055578	P49406	RM19_HUMAN			5	569	+			182					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.544C>T	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787293	0.49997	0.0	1.22E-4	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.18	5.18	0.71444	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.69823	2.125	0.80722	D	1	P	0.43477	0.808	B	0.37422	0.249	T	0.63161	-0.6699	9	0.72032	D	0.01	-20.227	11.6298	0.51166	0.1777:0.8223:0.0:0.0	.	182	P49406	RM19_HUMAN	W	182	.	ENSP00000377486:R182W	R	+	1	2	MRPL19	75735438	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.338000	0.52128	2.582000	0.87167	0.563000	0.77884	CGG		0.388	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		17	66	0	0	0	0.007413	0	17	66				
LRRTM4	80059	broad.mit.edu	37	2	77745606	77745606	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:77745606C>A	ENST00000409093.1	-	3	1725	c.1389G>T	c.(1387-1389)atG>atT	p.M463I	LRRTM4_ENST00000409088.3_Missense_Mutation_p.M463I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M464I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M463I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M464I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	463					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCGCCTCTTCATAAGAGAGT	0.473																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1387-1389)ATG>ATT		leucine rich repeat transmembrane neuronal 4							66.0	66.0	66.0					2																	77745606		1916	4148	6064	SO:0001583	missense	80059					integral to membrane		g.chr2:77745606C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1389G>T	2.37:g.77745606C>A	ENSP00000386357:p.Met463Ile					LRRTM4_uc002snq.2_Missense_Mutation_p.M463I|LRRTM4_uc002sns.2_Missense_Mutation_p.M463I|LRRTM4_uc002snt.2_Missense_Mutation_p.M464I	p.M463I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1804	-			463			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1389G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	3.582	-0.085415	0.07097	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	5.68	0.88126	.	0.188655	0.64402	D	0.000019	T	0.68705	0.3030	L	0.43152	1.355	0.40065	D	0.975943	B;B;B	0.27997	0.197;0.129;0.197	B;B;B	0.26202	0.03;0.067;0.052	T	0.64659	-0.6355	10	0.27082	T	0.32	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	464;463;463	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	464;463;463;463;464	ENSP00000387228:M464I;ENSP00000387297:M463I;ENSP00000386357:M463I;ENSP00000386236:M463I;ENSP00000386286:M464I	ENSP00000386236:M463I	M	-	3	0	LRRTM4	77599114	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.101000	0.41787	2.670000	0.90874	0.655000	0.94253	ATG		0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		19	19	1	0	7.07596e-05	0.006122	9.33404e-05	19	19				
REG3A	5068	broad.mit.edu	37	2	79385835	79385835	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:79385835G>T	ENST00000409839.3	-	3	173	c.137C>A	c.(136-138)gCc>gAc	p.A46D	REG3A_ENST00000305165.2_Missense_Mutation_p.A46D|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.A46D	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	46					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGAGCCATAGGCCTTGGAGCC	0.547																																							uc002sod.1		NA																	0				skin(1)	1						c.(136-138)GCC>GAC		pancreatitis-associated protein precursor							109.0	97.0	101.0					2																	79385835		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385835G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.137C>A	2.37:g.79385835G>T	ENSP00000386630:p.Ala46Asp					REG3A_uc002soe.1_Missense_Mutation_p.A46D|REG3A_uc002sof.1_Missense_Mutation_p.A46D	p.A46D	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	392	-			46			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.137C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630703	0.46944	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14766	2.48;2.48;2.48	3.83	2.91	0.33838	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.116181	0.39083	N	0.001466	T	0.24774	0.0601	M	0.82132	2.575	0.09310	N	1	D	0.53151	0.958	P	0.49637	0.617	T	0.09207	-1.0685	10	0.87932	D	0	.	9.3004	0.37842	0.0:0.2198:0.7802:0.0	.	46	Q06141	REG3A_HUMAN	D	46	ENSP00000386630:A46D;ENSP00000377456:A46D;ENSP00000304311:A46D	ENSP00000304311:A46D	A	-	2	0	REG3A	79239343	0.019000	0.18553	0.008000	0.14137	0.045000	0.14185	0.658000	0.24979	1.142000	0.42291	0.597000	0.82753	GCC		0.547	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		22	22	1	0	3.5997e-14	0.002299	5.99325e-14	22	22				
SLC9A4	389015	broad.mit.edu	37	2	103148809	103148809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:103148809G>T	ENST00000295269.4	+	12	2516	c.2059G>T	c.(2059-2061)Gga>Tga	p.G687*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	687					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTGATCCAGGATCCCCATC	0.453																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2059-2061)GGA>TGA		solute carrier family 9 (sodium/hydrogen							105.0	105.0	105.0					2																	103148809		2203	4300	6503	SO:0001587	stop_gained	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148809G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2059G>T	2.37:g.103148809G>T	ENSP00000295269:p.Gly687*						p.G687*	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2516	+			687			Cytoplasmic (Potential).		Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	c.2059G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	38	7.179717	0.98118	.	.	ENSG00000180251	ENST00000295269	.	.	.	4.78	1.86	0.25419	.	0.899589	0.09402	N	0.807053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	4.1283	0.10138	0.0891:0.1606:0.5843:0.166	.	.	.	.	X	687	.	ENSP00000295269:G687X	G	+	1	0	SLC9A4	102515241	0.363000	0.24989	0.005000	0.12908	0.010000	0.07245	3.463000	0.53050	0.521000	0.28445	-0.181000	0.13052	GGA		0.453	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		22	90	1	0	2.70639e-06	0.002299	3.72372e-06	22	90				
SLC5A7	60482	broad.mit.edu	37	2	108618393	108618393	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:108618393C>T	ENST00000264047.2	+	6	914	c.638C>T	c.(637-639)gCa>gTa	p.A213V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A213V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A108V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	213					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTGCAGTCGCAGACATCGGG	0.488																																							uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(637-639)GCA>GTA		solute carrier family 5 (choline transporter),	Choline(DB00122)						215.0	204.0	208.0					2																	108618393		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108618393C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.638C>T	2.37:g.108618393C>T	ENSP00000264047:p.Ala213Val					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A213V|SLC5A7_uc010ywn.1_Missense_Mutation_p.A100V	p.A213V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			6	914	+			213			Cytoplasmic (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.638C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124702	0.37533	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92348	-2.77;-3.02;-2.77	5.49	4.6	0.57074	.	0.469642	0.25636	N	0.029316	T	0.80974	0.4727	N	0.03154	-0.405	0.26638	N	0.972342	B	0.02656	0.0	B	0.09377	0.004	T	0.61579	-0.7034	10	0.11182	T	0.66	-25.2802	16.1501	0.81611	0.0:0.8662:0.1338:0.0	.	213	Q9GZV3	SC5A7_HUMAN	V	213;108;213	ENSP00000387346:A213V;ENSP00000445351:A108V;ENSP00000264047:A213V	ENSP00000264047:A213V	A	+	2	0	SLC5A7	107984825	0.010000	0.17322	0.299000	0.25016	0.963000	0.63663	2.523000	0.45580	1.278000	0.44430	0.643000	0.83706	GCA		0.488	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			21	69	0	0	0	0.00333	0	21	69				
POTEF	728378	broad.mit.edu	37	2	130832405	130832405	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:130832405C>A	ENST00000409914.2	-	17	3039	c.2640G>T	c.(2638-2640)ctG>ctT	p.L880L	POTEF_ENST00000357462.5_Silent_p.L880L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	880	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCCGCCCAGCCAGGTCTAGGC	0.592																																							uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(2638-2640)CTG>CTT		prostate, ovary, testis expressed protein on							19.0	25.0	23.0					2																	130832405		1926	4014	5940	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832405C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2640G>T	2.37:g.130832405C>A							p.L880L	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	3040	-			880			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2640G>T	CCDS46409.1																																																																																				0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		18	25	1	0	3.52763e-06	0.00499	4.83286e-06	18	25				
THSD7B	80731	broad.mit.edu	37	2	137988717	137988717	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:137988717G>C	ENST00000409968.1	+	8	2005	c.1827G>C	c.(1825-1827)gaG>gaC	p.E609D	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E609D|THSD7B_ENST00000413152.2_Missense_Mutation_p.E578D			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	609	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGGACGGAGTGGTCATCCT	0.512																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1732-1734)GAG>GAC		thrombospondin, type I, domain containing 7B							77.0	78.0	78.0					2																	137988717		1992	4159	6151	SO:0001583	missense	80731							g.chr2:137988717G>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1827G>C	2.37:g.137988717G>C	ENSP00000387145:p.Glu609Asp					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E468D	p.E578D	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1734	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1734G>C		.	.	.	.	.	.	.	.	.	.	G	8.276	0.814515	0.16607	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.58652	0.32;0.32;0.32	5.89	0.811	0.18739	.	1.167200	0.05810	N	0.613883	T	0.42562	0.1208	L	0.31371	0.925	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.20338	-1.0278	10	0.20519	T	0.43	.	5.762	0.18205	0.317:0.0:0.5656:0.1174	.	609;578	Q9C0I4;C9JKN6	THS7B_HUMAN;.	D	609;609;578	ENSP00000387145:E609D;ENSP00000272643:E609D;ENSP00000413841:E578D	ENSP00000272643:E609D	E	+	3	2	THSD7B	137705187	0.000000	0.05858	0.997000	0.53966	0.982000	0.71751	-0.421000	0.07053	0.114000	0.18032	-0.253000	0.11424	GAG		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	17	0	0	0	0.008291	0	10	17				
LRP1B	53353	broad.mit.edu	37	2	141643783	141643783	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:141643783G>A	ENST00000389484.3	-	24	4859	c.3888C>T	c.(3886-3888)caC>caT	p.H1296H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1296					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGATTGAAGTGAAAATCAA	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3886-3888)CAC>CAT		low density lipoprotein-related protein 1B							81.0	83.0	82.0					2																	141643783		2202	4295	6497	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643783G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3888C>T	2.37:g.141643783G>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.H478H	p.H1296H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4860	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1296			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3888C>T	CCDS2182.1																																																																																				0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	28	0	0	0	0.00245	0	11	28				
TTN	7273	broad.mit.edu	37	2	179397732	179397732	+	Missense_Mutation	SNP	C	C	T	rs369028576		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179397732C>T	ENST00000591111.1	-	308	98911	c.98687G>A	c.(98686-98688)cGg>cAg	p.R32896Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25597Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25472Q|TTN_ENST00000342175.6_Missense_Mutation_p.R25664Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31969Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34537Q			Q8WZ42	TITIN_HUMAN	titin	32896					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)			ATAAGGCATCCGGAGTTTTCT	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.(95905-95907)CGG>CAG		titin isoform N2-A							168.0	175.0	173.0					2																	179397732		1984	4163	6147	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397732C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98687G>A	2.37:g.179397732C>T	ENSP00000465570:p.Arg32896Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25664Q|TTN_uc010zfi.1_Missense_Mutation_p.R25597Q|TTN_uc010zfj.1_Missense_Mutation_p.R25472Q	p.R31969Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96130	-			32896					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.95906G>A		.	.	.	.	.	.	.	.	.	.	C	16.74	3.206092	0.58234	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64991	-0.13;0.11;0.09;0.08	5.94	5.94	0.96194	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.47819	D	0.999528	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;P;P	0.59546	0.766;0.766;0.766;0.859	T	0.69953	-0.5005	9	0.87932	D	0	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	25472;25597;25664;32896	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31969;25472;25664;25597;25469	ENSP00000343764:R31969Q;ENSP00000434586:R25472Q;ENSP00000340554:R25664Q;ENSP00000352154:R25597Q	ENSP00000340554:R25664Q	R	-	2	0	TTN	179105978	0.998000	0.40836	0.993000	0.49108	0.940000	0.58332	4.014000	0.57145	2.826000	0.97356	0.561000	0.74099	CGG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	154	0	0	0	0.00361	0	53	154				
TTN	7273	broad.mit.edu	37	2	179463659	179463660	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179463659_179463660GG>TC	ENST00000591111.1	-	241	52078_52079	c.51854_51855CC>GA	c.(51853-51855)aCC>aGA	p.T17285R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9986R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T9861R|TTN_ENST00000342175.6_Missense_Mutation_p.T10053R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16358R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T18926R			Q8WZ42	TITIN_HUMAN	titin	17285	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGAAGTGGTGTCTTTCAT	0.455																																							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.(49072-49074)ACC>AGA		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463659_179463660GG>TC	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.51854_51855delinsTC	2.37:g.179463659_179463660delinsTC	ENSP00000465570:p.Thr17285Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T10053R|TTN_uc010zfi.1_Missense_Mutation_p.T9986R|TTN_uc010zfj.1_Missense_Mutation_p.T9861R	p.T16358R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49297_49298	-			17285					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	DNP	ENST00000591111.1	37	c.49073_49074CC>GA																																																																																					0.455	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	37	0	0	0	0.004672	0	10	37				
TTN	7273	broad.mit.edu	37	2	179579280	179579280	+	Missense_Mutation	SNP	T	T	G	rs538959125	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179579280T>G	ENST00000591111.1	-	89	25494	c.25270A>C	c.(25270-25272)Aag>Cag	p.K8424Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7497Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K8741Q			Q8WZ42	TITIN_HUMAN	titin	12595	Ig-like 67.				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)			TCACTGAGCTTCTTCACAAAT	0.438																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22489-22491)AAG>CAG		titin isoform N2-A							45.0	40.0	41.0					2																	179579280		1843	4108	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579280T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25270A>C	2.37:g.179579280T>G	ENSP00000465570:p.Lys8424Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4158Q	p.K7497Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	22713	-			8424					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.22489A>C		.	.	.	.	.	.	.	.	.	.	T	16.77	3.215411	0.58452	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71307	0.3324	M	0.73217	2.22	0.80722	D	1	B	0.30114	0.269	B	0.36666	0.23	T	0.72590	-0.4247	9	0.87932	D	0	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	8424	Q8WZ42	TITIN_HUMAN	Q	7497	ENSP00000343764:K7497Q	ENSP00000343764:K7497Q	K	-	1	0	TTN	179287525	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	AAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	17	0	0	0	0.002299	0	20	17				
TTN	7273	broad.mit.edu	37	2	179590619	179590619	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179590619T>A	ENST00000591111.1	-	68	19703	c.19479A>T	c.(19477-19479)gcA>gcT	p.A6493A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A5566A|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.A6810A			Q8WZ42	TITIN_HUMAN	titin	12094	Ig-like 46.				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)			AGTTTTTGGATGCAATCTTGT	0.428																																							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.(16696-16698)GCA>GCT		titin isoform N2-A							121.0	116.0	118.0					2																	179590619		1910	4150	6060	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590619T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19479A>T	2.37:g.179590619T>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A2227A	p.A5566A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		67	16922	-			6493					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.16698A>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	15	0	0	0	0.002299	0	24	15				
TTN	7273	broad.mit.edu	37	2	179592015	179592015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179592015C>A	ENST00000591111.1	-	67	19350	c.19126G>T	c.(19126-19128)Gga>Tga	p.G6376*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G5449*|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.G6693*			Q8WZ42	TITIN_HUMAN	titin	13148	Ig-like 45.				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)			TCTGGGGATCCAGCTATCTTG	0.418																																							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.(16345-16347)GGA>TGA		titin isoform N2-A							73.0	67.0	69.0					2																	179592015		1870	4095	5965	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592015C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19126G>T	2.37:g.179592015C>A	ENSP00000465570:p.Gly6376*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G2110*	p.G5449*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16569	-			6376					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.16345G>T		.	.	.	.	.	.	.	.	.	.	C	57	29.335535	0.99975	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	5449	.	ENSP00000343764:G5449X	G	-	1	0	TTN	179300260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.073000	0.71245	2.941000	0.99782	0.655000	0.94253	GGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	13	1	0	1.04352e-10	0.003755	1.62456e-10	33	13				
TTN	7273	broad.mit.edu	37	2	179642533	179642533	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179642533C>G	ENST00000591111.1	-	25	4602	c.4378G>C	c.(4378-4380)Gtg>Ctg	p.V1460L	TTN_ENST00000359218.5_Missense_Mutation_p.V1414L|TTN_ENST00000360870.5_Missense_Mutation_p.V1460L|TTN_ENST00000460472.2_Missense_Mutation_p.V1414L|TTN_ENST00000342175.6_Missense_Mutation_p.V1414L|TTN_ENST00000342992.6_Missense_Mutation_p.V1460L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V1460L			Q8WZ42	TITIN_HUMAN	titin	12326	Ig-like 6.				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)			GGTTTTAACACAAAGACTGGT	0.448																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4378-4380)GTG>CTG		titin isoform N2-A							81.0	80.0	81.0					2																	179642533		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642533C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4378G>C	2.37:g.179642533C>G	ENSP00000465570:p.Val1460Leu					TTN_uc010zfh.1_Missense_Mutation_p.V1414L|TTN_uc010zfi.1_Missense_Mutation_p.V1414L|TTN_uc010zfj.1_Missense_Mutation_p.V1414L|TTN_uc002unb.2_Missense_Mutation_p.V1460L|uc002unc.1_RNA	p.V1460L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		25	4602	-			1460					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.4378G>C		.	.	.	.	.	.	.	.	.	.	C	18.18	3.566078	0.65651	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75613	0.3873	N	0.12961	0.28	0.42132	D	0.991474	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	D;D;D;D;D	0.83275	0.994;0.994;0.994;0.994;0.996	T	0.79579	-0.1745	9	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1414;1414;1414;1460;1460	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1460;1414;1414;1414;1414;1460	ENSP00000343764:V1460L;ENSP00000434586:V1414L;ENSP00000340554:V1414L;ENSP00000352154:V1414L;ENSP00000354117:V1460L	ENSP00000340554:V1414L	V	-	1	0	TTN	179350778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.831000	0.97527	0.650000	0.86243	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	71	0	0	0	0.001523	0	22	71				
TTN	7273	broad.mit.edu	37	2	179648463	179648463	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179648463G>A	ENST00000591111.1	-	17	3049	c.2825C>T	c.(2824-2826)cCa>cTa	p.P942L	TTN_ENST00000359218.5_Missense_Mutation_p.P896L|TTN_ENST00000360870.5_Missense_Mutation_p.P942L|TTN_ENST00000460472.2_Missense_Mutation_p.P896L|TTN_ENST00000342175.6_Missense_Mutation_p.P896L|TTN_ENST00000342992.6_Missense_Mutation_p.P942L|TTN_ENST00000589042.1_Missense_Mutation_p.P942L			Q8WZ42	TITIN_HUMAN	titin	33644					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)			CAAAGTTGGTGGAGTAACAGG	0.353																																							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.(2824-2826)CCA>CTA		titin isoform N2-A							89.0	91.0	91.0					2																	179648463		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648463G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2825C>T	2.37:g.179648463G>A	ENSP00000465570:p.Pro942Leu					TTN_uc010zfh.1_Missense_Mutation_p.P896L|TTN_uc010zfi.1_Missense_Mutation_p.P896L|TTN_uc010zfj.1_Missense_Mutation_p.P896L|TTN_uc002unb.2_Missense_Mutation_p.P942L	p.P942L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		17	3049	-			942					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.2825C>T		.	.	.	.	.	.	.	.	.	.	G	15.69	2.907123	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.93	5.93	0.95920	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79644	0.4481	L	0.34521	1.04	0.49389	D	0.999782	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.997;0.997;0.999	T	0.80455	-0.1375	9	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	896;896;896;942;942	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	942;896;896;896;896;942	ENSP00000343764:P942L;ENSP00000434586:P896L;ENSP00000340554:P896L;ENSP00000352154:P896L;ENSP00000354117:P942L	ENSP00000340554:P896L	P	-	2	0	TTN	179356708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.847000	0.86896	2.826000	0.97356	0.655000	0.94253	CCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	72	0	0	0	0.00632	0	23	72				
TTN	7273	broad.mit.edu	37	2	179650358	179650358	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179650358G>T	ENST00000591111.1	-	15	2706	c.2482C>A	c.(2482-2484)Cat>Aat	p.H828N	TTN_ENST00000359218.5_Missense_Mutation_p.H782N|TTN_ENST00000360870.5_Missense_Mutation_p.H828N|TTN_ENST00000460472.2_Missense_Mutation_p.H782N|TTN_ENST00000342175.6_Missense_Mutation_p.H782N|TTN_ENST00000342992.6_Missense_Mutation_p.H828N|TTN_ENST00000589042.1_Missense_Mutation_p.H828N			Q8WZ42	TITIN_HUMAN	titin	33659					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)			TCATATCCATGTTCTGTCTTA	0.408																																							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.(2482-2484)CAT>AAT		titin isoform N2-A							117.0	115.0	116.0					2																	179650358		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650358G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2482C>A	2.37:g.179650358G>T	ENSP00000465570:p.His828Asn					TTN_uc010zfh.1_Missense_Mutation_p.H782N|TTN_uc010zfi.1_Missense_Mutation_p.H782N|TTN_uc010zfj.1_Missense_Mutation_p.H782N|TTN_uc002unb.2_Missense_Mutation_p.H828N	p.H828N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2706	-			828					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.2482C>A		.	.	.	.	.	.	.	.	.	.	G	13.66	2.303220	0.40795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64085	-0.08;0.15;0.15;0.14;0.29	5.63	5.63	0.86233	Ribonuclease H-like (1);	.	.	.	.	T	0.61426	0.2346	L	0.32530	0.975	0.25610	N	0.986502	B;B;B;B;P	0.38504	0.201;0.201;0.201;0.201;0.634	B;B;B;B;B	0.41988	0.058;0.058;0.058;0.058;0.372	T	0.60900	-0.7171	9	0.87932	D	0	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	782;782;782;828;828	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	828;782;782;782;782;828	ENSP00000343764:H828N;ENSP00000434586:H782N;ENSP00000340554:H782N;ENSP00000352154:H782N;ENSP00000354117:H828N	ENSP00000340554:H782N	H	-	1	0	TTN	179358603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.042000	0.64202	2.798000	0.96311	0.655000	0.94253	CAT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	55	1	0	1.45105e-14	0.006122	2.44562e-14	16	55				
CCDC141	285025	broad.mit.edu	37	2	179702023	179702023	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179702023T>A	ENST00000420890.2	-	23	4040	c.3923A>T	c.(3922-3924)aAg>aTg	p.K1308M	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.K733M	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1308										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCAGTACTCTTTTCCACGAA	0.478																																							uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(2197-2199)AAG>ATG		coiled-coil domain containing 141							111.0	103.0	106.0					2																	179702023		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702023T>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3923A>T	2.37:g.179702023T>A	ENSP00000395995:p.Lys1308Met					CCDC141_uc002une.1_Missense_Mutation_p.K183M	p.K733M	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2255	-			733					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2198A>T		.	.	.	.	.	.	.	.	.	.	T	12.06	1.824517	0.32237	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.47869	0.83;1.47;1.47	5.71	-3.21	0.05140	.	1.071880	0.07129	N	0.845263	T	0.28300	0.0699	L	0.31664	0.95	0.09310	N	1	B;B	0.28933	0.228;0.228	B;B	0.24269	0.035;0.052	T	0.17684	-1.0361	10	0.33940	T	0.23	-2.0827	3.6797	0.08305	0.11:0.1547:0.4944:0.2409	.	733;733	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	M	1308;752;733	ENSP00000395995:K1308M;ENSP00000344627:K752M;ENSP00000295723:K733M	ENSP00000295723:K733M	K	-	2	0	CCDC141	179410268	0.048000	0.20356	0.077000	0.20336	0.948000	0.59901	0.082000	0.14847	-0.432000	0.07297	0.533000	0.62120	AAG		0.478	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		22	53	0	0	0	0.001882	0	22	53				
CERKL	375298	broad.mit.edu	37	2	182423388	182423388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:182423388G>T	ENST00000339098.5	-	6	802	c.803C>A	c.(802-804)gCt>gAt	p.A268D	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.A224D|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000410087.3_Missense_Mutation_p.A242D			Q49MI3	CERKL_HUMAN	ceramide kinase-like	268	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGAAGCAAAGCATGGGCTAC	0.453																																							uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(802-804)GCT>GAT		ceramide kinase-like isoform b							119.0	119.0	119.0					2																	182423388		1979	4159	6138	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182423388G>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.803C>A	2.37:g.182423388G>T	ENSP00000341159:p.Ala268Asp					CERKL_uc002uny.2_Missense_Mutation_p.A242D|CERKL_uc010zfm.1_Missense_Mutation_p.A224D|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.A37D|CERKL_uc002uoe.2_Missense_Mutation_p.A242D	p.A268D	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		6	904	-			268			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.803C>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495734	0.85069	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.24538	1.85;1.85;1.85	5.93	4.06	0.47325	Diacylglycerol kinase, catalytic domain (2);	0.202871	0.42053	D	0.000767	T	0.54838	0.1883	M	0.88310	2.945	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.99	D;P;P	0.65140	0.932;0.782;0.88	T	0.66787	-0.5835	10	0.87932	D	0	.	14.7487	0.69508	0.0:0.5638:0.4362:0.0	.	224;242;268	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	D	242;224;268	ENSP00000386725:A242D;ENSP00000387080:A224D;ENSP00000341159:A268D	ENSP00000341159:A268D	A	-	2	0	CERKL	182131633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.417000	0.52714	1.477000	0.48234	0.591000	0.81541	GCT		0.453	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			22	99	1	0	1.50039e-11	0.001882	2.38224e-11	22	99				
ITGAV	3685	broad.mit.edu	37	2	187529932	187529932	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:187529932A>G	ENST00000261023.3	+	21	2427	c.2153A>G	c.(2152-2154)aAg>aGg	p.K718R	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.K682R|ITGAV_ENST00000433736.2_Missense_Mutation_p.K672R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	718					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AACCCAATGAAGGCTGGAACT	0.363																																					Melanoma(58;108 1995 6081)	Melanoma(58;108 1995 6081)	uc002upq.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2152-2154)AAG>AGG		integrin alpha-V isoform 1 precursor							82.0	81.0	81.0					2																	187529932		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187529932A>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2153A>G	2.37:g.187529932A>G	ENSP00000261023:p.Lys718Arg					ITGAV_uc010frs.2_Missense_Mutation_p.K682R|ITGAV_uc010zfv.1_Missense_Mutation_p.K672R	p.K718R	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	21	2429	+			718			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2153A>G	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174589	0.78452	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.53857	0.6;0.6;0.6	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.044764	0.85682	D	0.000000	T	0.74997	0.3790	M	0.83774	2.66	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.77787	-0.2457	10	0.52906	T	0.07	.	16.1286	0.81410	1.0:0.0:0.0:0.0	.	672;682;718	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	R	718;682;672	ENSP00000261023:K718R;ENSP00000364042:K682R;ENSP00000404291:K672R	ENSP00000261023:K718R	K	+	2	0	ITGAV	187238177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.213000	0.71641	0.477000	0.44152	AAG		0.363	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		10	267	0	0	0	0.000978	0	10	267				
COL3A1	1281	broad.mit.edu	37	2	189862437	189862437	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:189862437T>A	ENST00000304636.3	+	27	2051	c.1881T>A	c.(1879-1881)ggT>ggA	p.G627G	COL3A1_ENST00000317840.5_Silent_p.G627G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	627	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCCTGGTGGTGACAAAGGAG	0.383																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1879-1881)GGT>GGA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						89.0	102.0	98.0					2																	189862437		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189862437T>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1881T>A	2.37:g.189862437T>A							p.G627G	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		27	1998	+			627			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.1881T>A	CCDS2297.1																																																																																				0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		105	39	0	0	0	0.00361	0	105	39				
COL5A2	1290	broad.mit.edu	37	2	189899873	189899873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:189899873A>T	ENST00000374866.3	-	53	4396	c.4122T>A	c.(4120-4122)taT>taA	p.Y1374*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1374	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTGGTCTCCATAAGCGAACT	0.348																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(4120-4122)TAT>TAA		alpha 2 type V collagen preproprotein							84.0	84.0	84.0					2																	189899873		2203	4300	6503	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899873A>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4122T>A	2.37:g.189899873A>T	ENSP00000364000:p.Tyr1374*					COL5A2_uc010frx.2_Nonsense_Mutation_p.Y950*	p.Y1374*	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4397	-			1374			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.4122T>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	A	42	9.740818	0.99252	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.53	1.93	0.25924	.	0.000000	0.43747	D	0.000525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4799	0.38895	0.7255:0.0:0.2745:0.0	.	.	.	.	X	1374;1014	.	ENSP00000364000:Y1374X	Y	-	3	2	COL5A2	189608118	0.741000	0.28217	0.999000	0.59377	0.611000	0.37282	0.092000	0.15066	0.397000	0.25310	0.455000	0.32223	TAT		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		16	337	0	0	0	0.007413	0	16	337				
SLC40A1	30061	broad.mit.edu	37	2	190428941	190428941	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:190428941T>A	ENST00000261024.2	-	7	1197	c.771A>T	c.(769-771)ccA>ccT	p.P257P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	257					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)			CCAGGGGTTTTGGCTCAGTAT	0.418																																							uc002uqp.3		NA																	0				ovary(1)	1						c.(769-771)CCA>CCT		solute carrier family 40 (iron-regulated							75.0	72.0	73.0					2																	190428941		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428941T>A	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.771A>T	2.37:g.190428941T>A							p.P257P	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1122	-			257					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.771A>T	CCDS2299.1																																																																																				0.418	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			102	62	0	0	0	0.00361	0	102	62				
HECW2	57520	broad.mit.edu	37	2	197184519	197184519	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:197184519C>A	ENST00000260983.3	-	9	1277	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	HECW2_ENST00000409111.1_Missense_Mutation_p.Q9H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q365H(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAGAGCACACCTGGCTGTCGT	0.517																																							uc002utm.1		NA																	1	Substitution - Missense(1)	p.Q365H(1)	ovary(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1093-1095)CAG>CAT		HECT, C2 and WW domain containing E3 ubiquitin							100.0	87.0	91.0					2																	197184519		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184519C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1095G>T	2.37:g.197184519C>A	ENSP00000260983:p.Gln365His					HECW2_uc002utl.1_Missense_Mutation_p.Q9H	p.Q365H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1278	-			365					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1095G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	1.029	-0.682585	0.03353	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30448	1.53;1.53	5.43	-10.9	0.00192	.	1.428700	0.04438	N	0.370451	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.46703	T	0.11	.	0.8874	0.01247	0.276:0.132:0.1998:0.3922	.	365	Q9P2P5	HECW2_HUMAN	H	9;365	ENSP00000386775:Q9H;ENSP00000260983:Q365H	ENSP00000260983:Q365H	Q	-	3	2	HECW2	196892764	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.392000	0.02523	-3.876000	0.00096	-0.140000	0.14226	CAG		0.517	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		14	43	1	0	0.000151284	0.001855	0.000197659	14	43				
KCTD18	130535	broad.mit.edu	37	2	201363800	201363800	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:201363800G>T	ENST00000359878.3	-	4	890	c.380C>A	c.(379-381)aCa>aAa	p.T127K	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.T127K	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	127					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACAGAAGTCTGTTAAAGCCTA	0.308																																							uc002uvs.2		NA																	0				ovary(1)	1						c.(379-381)ACA>AAA		potassium channel tetramerization domain							50.0	49.0	50.0					2																	201363800		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201363800G>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.380C>A	2.37:g.201363800G>T	ENSP00000352941:p.Thr127Lys					KCTD18_uc002uvt.2_Missense_Mutation_p.T127K|KCTD18_uc002uvu.1_Missense_Mutation_p.T127K	p.T127K	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN			4	897	-			127					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.380C>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212110	0.39102	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	D;D	0.97066	-4.23;-4.23	5.42	4.54	0.55810	.	0.499552	0.20293	N	0.095188	D	0.91270	0.7248	L	0.27053	0.805	0.29605	N	0.847411	B;P	0.38922	0.018;0.651	B;B	0.32805	0.015;0.153	D	0.86949	0.2084	10	0.27785	T	0.31	-5.8641	6.3412	0.21324	0.2963:0.0:0.7037:0.0	.	127;127	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	K	127	ENSP00000352941:T127K;ENSP00000386751:T127K	ENSP00000352941:T127K	T	-	2	0	KCTD18	201072045	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.852000	0.39348	1.509000	0.48786	0.563000	0.77884	ACA		0.308	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		25	79	1	0	2.39556e-15	0.00278	4.11711e-15	25	79				
CTLA4	1493	broad.mit.edu	37	2	204732769	204732769	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:204732769G>A	ENST00000302823.3	+	1	261	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000295854.6_Missense_Mutation_p.C35Y|CTLA4_ENST00000472206.1_Missense_Mutation_p.C35Y|CTLA4_ENST00000427473.2_5'Flank	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	35					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CCTGTCTTCTGCAAAGGTGAG	0.488																																							uc002vak.1		NA																	0					0						c.(103-105)TGC>TAC		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						129.0	113.0	118.0					2																	204732769		2203	4300	6503	SO:0001583	missense	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204732769G>A		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.104G>A	2.37:g.204732769G>A	ENSP00000303939:p.Cys35Tyr					CTLA4_uc002val.1_Missense_Mutation_p.C35Y|CTLA4_uc010fty.1_Missense_Mutation_p.C35Y|CTLA4_uc010ftz.1_RNA	p.C35Y	NM_005214	NP_005205	P16410	CTLA4_HUMAN			1	261	+			35					A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.104G>A	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	G	7.777	0.708587	0.15239	.	.	ENSG00000163599	ENST00000302823;ENST00000541886;ENST00000295854;ENST00000472206	T;T;T	0.28895	1.59;1.59;1.59	6.17	5.3	0.74995	.	0.467428	0.22431	N	0.060159	T	0.18964	0.0455	N	0.08118	0	0.80722	D	1	B;B;B	0.25609	0.001;0.13;0.008	B;B;B	0.21151	0.001;0.033;0.013	T	0.05194	-1.0900	10	0.66056	D	0.02	-6.7042	15.1574	0.72755	0.0:0.8583:0.1417:0.0	.	35;35;35	P16410-4;Q8TDA6;P16410	.;.;CTLA4_HUMAN	Y	35	ENSP00000303939:C35Y;ENSP00000295854:C35Y;ENSP00000417779:C35Y	ENSP00000295854:C35Y	C	+	2	0	CTLA4	204441014	0.912000	0.30974	0.992000	0.48379	0.047000	0.14425	1.081000	0.30791	1.635000	0.50512	-0.133000	0.14855	TGC		0.488	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		22	137	0	0	0	0.002299	0	22	137				
CTLA4	1493	broad.mit.edu	37	2	204735330	204735330	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:204735330C>T	ENST00000302823.3	+	2	288	c.131C>T	c.(130-132)gCt>gTt	p.A44V	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.A44V|CTLA4_ENST00000472206.1_Missense_Mutation_p.A44V|CTLA4_ENST00000427473.2_Missense_Mutation_p.A7V	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	44	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	GCCCAGCCTGCTGTGGTACTG	0.582																																							uc002vak.1		NA																	0					0						c.(130-132)GCT>GTT		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						68.0	62.0	64.0					2																	204735330		2203	4300	6503	SO:0001583	missense	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204735330C>T		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.131C>T	2.37:g.204735330C>T	ENSP00000303939:p.Ala44Val					CTLA4_uc002val.1_Missense_Mutation_p.A44V|CTLA4_uc010fty.1_Missense_Mutation_p.A44V|CTLA4_uc010ftz.1_Intron	p.A44V	NM_005214	NP_005205	P16410	CTLA4_HUMAN			2	288	+			44			Ig-like V-type.|Extracellular (Potential).		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.131C>T	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	12.64	2.000077	0.35320	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000472206;ENST00000427473	T;T;T;T	0.44881	1.35;1.35;1.35;0.91	5.19	2.09	0.27110	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.205020	0.05692	N	0.592363	T	0.46756	0.1409	L	0.57536	1.79	0.19575	N	0.999965	P;P;B	0.40731	0.728;0.694;0.412	P;B;B	0.44359	0.447;0.382;0.412	T	0.37776	-0.9691	10	0.45353	T	0.12	-9.2276	8.9517	0.35792	0.4246:0.4377:0.1377:0.0	.	44;44;44	P16410-4;Q8TDA6;P16410	.;.;CTLA4_HUMAN	V	44;44;44;7	ENSP00000303939:A44V;ENSP00000295854:A44V;ENSP00000417779:A44V;ENSP00000409707:A7V	ENSP00000295854:A44V	A	+	2	0	CTLA4	204443575	0.672000	0.27530	0.606000	0.28943	0.195000	0.23768	0.868000	0.27982	0.527000	0.28560	-0.293000	0.09583	GCT		0.582	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		200	40	0	0	0	0.00361	0	200	40				
EEF1B2	1933	broad.mit.edu	37	2	207027262	207027263	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:207027262_207027263GG>TT	ENST00000392222.2	+	5	822_823	c.447_448GG>TT	c.(445-450)tgGGat>tgTTat	p.149_150WD>CY	SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.149_150WD>CY|EEF1B2_ENST00000236957.5_Missense_Mutation_p.149_150WD>CY|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	149					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGAAACCTTGGGATGATGAGAC	0.391																																							uc002vbf.1		NA																	0					0						c.(445-450)TGGGAT>TGTTAT		eukaryotic translation elongation factor 1 beta																																				SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207027262_207027263GG>TT	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	Exception_encountered	2.37:g.207027262_207027263delinsTT	ENSP00000376056:p.W149_D150delinsCY					EEF1B2_uc002vbg.1_Missense_Mutation_p.149_150WD>CY|EEF1B2_uc002vbh.1_Missense_Mutation_p.149_150WD>CY	p.149_150WD>CY	NM_001037663	NP_001032752	P24534	EF1B_HUMAN			6	605_606	+			149_150					A8K795|Q6IBH9	Missense_Mutation	DNP	ENST00000392222.2	37	c.447_448GG>TT	CCDS2367.1																																																																																				0.391	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		138	105	0	0	0	0.004672	0	138	105				
ZDBF2	57683	broad.mit.edu	37	2	207171188	207171188	+	Missense_Mutation	SNP	A	A	G	rs374997578		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:207171188A>G	ENST00000374423.3	+	5	2322	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	646							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTTGAAAAGATAAATCTTCT	0.423																																							uc002vbp.2		NA																	0				ovary(3)	3						c.(1936-1938)ATA>GTA		zinc finger, DBF-type containing 2		A	VAL/ILE	0,3744		0,0,1872	90.0	87.0	88.0		1936	0.5	0.0	2		88	1,8219		0,1,4109	no	missense	ZDBF2	NM_020923.1	29	0,1,5981	GG,GA,AA		0.0122,0.0,0.0084	benign	646/2355	207171188	1,11963	1872	4110	5982	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171188A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1936A>G	2.37:g.207171188A>G	ENSP00000363545:p.Ile646Val						p.I646V	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2186	+			646			Potential.		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1936A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968055	0.18659	0.0	1.22E-4	ENSG00000204186	ENST00000374423	T	0.53206	0.63	4.24	0.497	0.16902	.	0.334628	0.21462	N	0.074142	T	0.23727	0.0574	N	0.25201	0.72	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.12630	-1.0540	10	0.12430	T	0.62	.	2.9204	0.05767	0.6148:0.0:0.2025:0.1826	.	646	Q9HCK1	ZDBF2_HUMAN	V	646	ENSP00000363545:I646V	ENSP00000363545:I646V	I	+	1	0	ZDBF2	206879433	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	2.195000	0.42677	0.078000	0.16900	-0.290000	0.09829	ATA		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		17	112	0	0	0	0.00499	0	17	112				
CRYGC	1420	broad.mit.edu	37	2	208992948	208992948	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:208992948C>A	ENST00000282141.3	-	3	541	c.504G>T	c.(502-504)cgG>cgT	p.R168R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	168	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CCACCACTCTCCGCAAAGAGC	0.502																																							uc002vco.3		NA																	0					0						c.(502-504)CGG>CGT		crystallin, gamma C							86.0	98.0	94.0					2																	208992948		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208992948C>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.504G>T	2.37:g.208992948C>A							p.R168R	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	542	-			168			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.504G>T	CCDS2379.1																																																																																				0.502	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		53	216	1	0	7.89702e-26	0.00361	1.56149e-25	53	216				
MAP2	4133	broad.mit.edu	37	2	210559792	210559792	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:210559792G>T	ENST00000360351.4	+	7	3404	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K962N|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	966					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TACTAGAAAAGAGTGAAGAAC	0.403																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2896-2898)AAG>AAT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						83.0	83.0	83.0					2																	210559792		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559792G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2898G>T	2.37:g.210559792G>T	ENSP00000353508:p.Lys966Asn					MAP2_uc002vdc.1_Missense_Mutation_p.K966N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K962N	p.K966N	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3146	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	966					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2898G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869821	0.51588	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.79	-2.16	0.07080	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.43010	0.1228	M	0.61703	1.905	0.43149	D	0.994911	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.36432	-0.9748	10	0.87932	D	0	-20.7956	13.087	0.59146	0.757:0.0:0.243:0.0	.	962;966	P11137-3;P11137	.;MAP2_HUMAN	N	966;962	ENSP00000353508:K966N;ENSP00000392164:K962N	ENSP00000353508:K966N	K	+	3	2	MAP2	210268037	0.859000	0.29813	0.520000	0.27837	0.475000	0.33008	1.088000	0.30877	-0.485000	0.06754	-0.127000	0.14921	AAG		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		34	33	1	0	2.42023e-17	0.003271	4.33832e-17	34	33				
KANSL1L	151050	broad.mit.edu	37	2	210888902	210888902	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:210888902C>A	ENST00000281772.9	-	14	2851	c.2588G>T	c.(2587-2589)gGa>gTa	p.G863V	KANSL1L_ENST00000418791.1_Missense_Mutation_p.G821V	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	863						histone acetyltransferase complex (GO:0000123)											CAAGTCCTGTCCTTCAACATT	0.383																																							uc002vds.2		NA																	0				ovary(3)	3						c.(2587-2589)GGA>GTA		hypothetical protein LOC151050							70.0	70.0	70.0					2																	210888902		2202	4300	6502	SO:0001583	missense	151050							g.chr2:210888902C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2588G>T	2.37:g.210888902C>A	ENSP00000281772:p.Gly863Val					C2orf67_uc002vdt.2_Missense_Mutation_p.G821V	p.G863V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	14	2796	-		Renal(323;0.202)	863					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2588G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008762	0.75046	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	.	0.627397	0.14072	N	0.343320	T	0.57140	0.2033	L	0.60455	1.87	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.54026	0.74;0.74	T	0.56208	-0.8017	10	0.72032	D	0.01	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	821;863	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	V	863;821	ENSP00000281772:G863V;ENSP00000405724:G821V	ENSP00000281772:G863V	G	-	2	0	C2orf67	210597147	0.999000	0.42202	0.996000	0.52242	0.716000	0.41182	2.187000	0.42602	2.816000	0.96949	0.650000	0.86243	GGA		0.383	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		10	32	1	0	0.000673444	0.008291	0.000859964	10	32				
CPS1	1373	broad.mit.edu	37	2	211515147	211515147	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:211515147G>T	ENST00000233072.5	+	28	3661	c.3465G>T	c.(3463-3465)gcG>gcT	p.A1155A	CPS1_ENST00000430249.2_Silent_p.A1161A|CPS1_ENST00000451903.2_Silent_p.A704A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1155	ATP-grasp 2.		A -> E (in CPS1D). {ECO:0000269|PubMed:21120950}.|A -> V (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TAGAAGAGGCGACTAGAGTTT	0.368																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3463-3465)GCG>GCT		carbamoyl-phosphate synthetase 1 isoform b							129.0	129.0	129.0					2																	211515147		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211515147G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3465G>T	2.37:g.211515147G>T						CPS1_uc010fur.2_Silent_p.A1161A|CPS1_uc010fus.2_Silent_p.A704A	p.A1155A	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	28	3597	+			1155			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3465G>T	CCDS2393.1																																																																																				0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			24	32	1	0	3.6726e-16	0.003954	6.41535e-16	24	32				
WNT6	7475	broad.mit.edu	37	2	219736268	219736268	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:219736268G>T	ENST00000233948.3	+	3	580	c.363G>T	c.(361-363)acG>acT	p.T121T	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	121					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGCCGTCACGCAGGCCTGTT	0.741																																							uc002vjc.1		NA																	0				ovary(2)|skin(1)	3						c.(361-363)ACG>ACT		wingless-type MMTV integration site family,																																				SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736268G>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.363G>T	2.37:g.219736268G>T							p.T121T	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	578	+		Renal(207;0.0474)	121					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.363G>T	CCDS2425.1																																																																																				0.741	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		4	7	1	0	5.16669e-11	0.000978	8.09616e-11	4	7				
ATG9A	79065	broad.mit.edu	37	2	220087103	220087103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:220087103G>A	ENST00000409618.1	-	12	2357	c.1918C>T	c.(1918-1920)Cag>Tag	p.Q640*	ATG9A_ENST00000361242.4_Nonsense_Mutation_p.Q640*|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Nonsense_Mutation_p.Q640*|ATG9A_ENST00000409422.1_Nonsense_Mutation_p.Q579*			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	640					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGCCCTGCAGGTCTCTG	0.642																																							uc002vke.1		NA																	0				skin(1)	1						c.(1918-1920)CAG>TAG		APG9 autophagy 9-like 1							40.0	46.0	44.0					2																	220087103		1962	4131	6093	SO:0001587	stop_gained	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220087103G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1918C>T	2.37:g.220087103G>A	ENSP00000386710:p.Gln640*					ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Nonsense_Mutation_p.Q640*	p.Q640*	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2104	-		Renal(207;0.0474)	640			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Nonsense_Mutation	SNP	ENST00000409618.1	37	c.1918C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284298	0.80803	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	.	.	.	5.35	5.35	0.76521	.	0.323972	0.34879	N	0.003602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.6729	19.2555	0.93944	0.0:0.0:1.0:0.0	.	.	.	.	X	640;640;640;579;199	.	ENSP00000355173:Q640X	Q	-	1	0	ATG9A	219795347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.489000	0.73641	2.790000	0.95986	0.591000	0.81541	CAG		0.642	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		37	24	0	0	0	0.005524	0	37	24				
SLC4A3	6508	broad.mit.edu	37	2	220505593	220505593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:220505593C>A	ENST00000358055.3	+	22	4042	c.3530C>A	c.(3529-3531)gCc>gAc	p.A1177D	SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1204D|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1204D			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1177	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACGGCGGCCTCACTCGCC	0.642																																							uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(3529-3531)GCC>GAC		solute carrier family 4, anion exchanger, member							64.0	53.0	57.0					2																	220505593		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505593C>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3530C>A	2.37:g.220505593C>A	ENSP00000350756:p.Ala1177Asp					SLC4A3_uc002vmo.3_Missense_Mutation_p.A1204D|SLC4A3_uc010fwm.2_Missense_Mutation_p.A727D	p.A1177D	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	3799	+		Renal(207;0.0183)	1177			Membrane (anion exchange).|Helical; (Potential).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3530C>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380760	0.82792	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.83	2.97	0.34412	.	0.057013	0.64402	N	0.000001	D	0.86928	0.6051	H	0.94264	3.515	0.58432	D	0.999999	P;P;P	0.52463	0.953;0.921;0.953	P;P;P	0.61397	0.851;0.775;0.888	D	0.88007	0.2760	10	0.72032	D	0.01	.	9.2036	0.37275	0.1468:0.7767:0.0:0.0766	.	881;1177;1204	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	D	1177;1177;1204;1204;1177	ENSP00000350756:A1177D;ENSP00000362865:A1177D;ENSP00000273063:A1204D;ENSP00000362867:A1204D;ENSP00000314006:A1177D	ENSP00000273063:A1204D	A	+	2	0	SLC4A3	220213837	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.890000	0.63178	1.140000	0.42260	0.563000	0.77884	GCC		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		5	32	1	0	1.23904e-05	0.000602	1.6642e-05	5	32				
SERPINE2	5270	broad.mit.edu	37	2	224862898	224862898	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:224862898C>A	ENST00000258405.4	-	3	663	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	SERPINE2_ENST00000409304.1_Missense_Mutation_p.V141L|SERPINE2_ENST00000447280.2_Missense_Mutation_p.V153L|SERPINE2_ENST00000409840.3_Missense_Mutation_p.V141L	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	141					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAAGTTCACATTCCGGACC	0.453																																							uc002vnu.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(421-423)GTG>TTG		plasminogen activator inhibitor type 1, member 2							102.0	90.0	94.0					2																	224862898		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224862898C>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.421G>T	2.37:g.224862898C>A	ENSP00000258405:p.Val141Leu					SERPINE2_uc002vnt.2_Missense_Mutation_p.V141L|SERPINE2_uc010zlr.1_Missense_Mutation_p.V153L|SERPINE2_uc002vnv.2_Missense_Mutation_p.V141L	p.V141L	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	664	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	141					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.421G>T	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548145	0.27652	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.92	1.43	0.22495	Serpin domain (3);	0.270708	0.36628	N	0.002500	T	0.71459	0.3342	L	0.31120	0.905	0.37234	D	0.905803	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.58907	-0.7553	10	0.19590	T	0.45	.	6.3854	0.21558	0.2812:0.4789:0.1784:0.0614	.	153;141	B4DIF2;P07093	.;GDN_HUMAN	L	141;141;141;153;141	ENSP00000386412:V141L;ENSP00000258405:V141L;ENSP00000386969:V141L;ENSP00000415786:V153L;ENSP00000408452:V141L	ENSP00000258405:V141L	V	-	1	0	SERPINE2	224571142	0.040000	0.19996	0.759000	0.31340	0.860000	0.49131	0.318000	0.19504	0.340000	0.23745	0.650000	0.86243	GTG		0.453	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		8	37	1	0	3.09899e-07	0.004482	4.42251e-07	8	37				
CCL20	6364	broad.mit.edu	37	2	228681074	228681074	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:228681074G>C	ENST00000358813.4	+	3	301	c.243G>C	c.(241-243)tgG>tgC	p.W81C	CCL20_ENST00000409189.3_Missense_Mutation_p.W80C|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	81					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACAGACTTGGGTGAAATATA	0.398																																							uc002vpl.2		NA																	0					0						c.(241-243)TGG>TGC		chemokine (C-C motif) ligand 20 isoform 1							100.0	97.0	98.0					2																	228681074		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228681074G>C	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.243G>C	2.37:g.228681074G>C	ENSP00000351671:p.Trp81Cys					CCL20_uc002vpm.2_Missense_Mutation_p.W80C	p.W81C	NM_004591	NP_004582	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	313	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	81					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.243G>C	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157519	0.38119	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.10477	2.87;2.87	5.19	5.19	0.71726	Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02844	-1.1103	9	0.87932	D	0	-14.2805	14.5713	0.68213	0.0:0.0:1.0:0.0	.	80;81	P78556-2;P78556	.;CCL20_HUMAN	C	80;81	ENSP00000386273:W80C;ENSP00000351671:W81C	ENSP00000351671:W81C	W	+	3	0	CCL20	228389318	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	4.946000	0.63576	2.600000	0.87896	0.555000	0.69702	TGG		0.398	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		17	49	0	0	0	0.008871	0	17	49				
DNER	92737	broad.mit.edu	37	2	230253070	230253070	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:230253070G>T	ENST00000341772.4	-	11	1900	c.1766C>A	c.(1765-1767)cCc>cAc	p.P589H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	589	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGTGGCAGGGGTTACTGTC	0.502																																							uc002vpv.2		NA																	0				lung(5)|ovary(2)|skin(1)	8						c.(1765-1767)CCC>CAC		delta-notch-like EGF repeat-containing							150.0	145.0	147.0					2																	230253070		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230253070G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1766C>A	2.37:g.230253070G>T	ENSP00000345229:p.Pro589His						p.P589H	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	11	1913	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	589			Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1766C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840937	0.91197	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.95377	-3.69	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	589	Q8NFT8	DNER_HUMAN	H	589;307	ENSP00000345229:P589H	ENSP00000345229:P589H	P	-	2	0	DNER	229961314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.979000	0.93455	2.691000	0.91804	0.643000	0.83706	CCC		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		29	85	1	0	5.45727e-16	0.008361	9.51549e-16	29	85				
NMUR1	10316	broad.mit.edu	37	2	232393341	232393341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:232393341C>A	ENST00000305141.4	-	2	524	c.391G>T	c.(391-393)Gtt>Ttt	p.V131F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	131					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGCCACCAACGCCCAGCAGG	0.612																																							uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(391-393)GTT>TTT		neuromedin U receptor 1							80.0	78.0	79.0					2																	232393341		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393341C>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.391G>T	2.37:g.232393341C>A	ENSP00000305877:p.Val131Phe						p.V131F	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	501	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	131			Extracellular (Potential).		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.391G>T	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	.	7.720	0.696887	0.15106	.	.	ENSG00000171596	ENST00000305141	T	0.72167	-0.63	5.11	-6.03	0.02185	GPCR, rhodopsin-like superfamily (1);	0.948037	0.08992	N	0.864238	T	0.56529	0.1991	N	0.25825	0.765	0.09310	N	1	B	0.27853	0.191	B	0.37239	0.244	T	0.56860	-0.7909	10	0.56958	D	0.05	-0.0834	7.7918	0.29125	0.0:0.4265:0.3489:0.2245	.	131	Q9HB89	NMUR1_HUMAN	F	131	ENSP00000305877:V131F	ENSP00000305877:V131F	V	-	1	0	NMUR1	232101585	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.825000	0.01707	-1.783000	0.01274	-0.477000	0.04895	GTT		0.612	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		36	26	1	0	2.42023e-17	0.003271	4.33832e-17	36	26				
UGT1A3	54659	broad.mit.edu	37	2	234638412	234638412	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:234638412A>T	ENST00000482026.1	+	1	659	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	UGT1A1_ENST00000609767.1_Missense_Mutation_p.M214L|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	214					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GGTCAAGAACATGCTCTACCC	0.463																																							uc002vuy.2		NA																	0				ovary(1)	1						c.(640-642)ATG>TTG		UDP glycosyltransferase 1 family, polypeptide A3							255.0	238.0	244.0					2																	234638412		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234638412A>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.640A>T	2.37:g.234638412A>T	ENSP00000418532:p.Met214Leu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.M214L	p.M214L	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	640	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	214					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.640A>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	10.96	1.498234	0.26861	.	.	ENSG00000243135	ENST00000482026	T	0.60424	0.19	4.2	0.453	0.16639	.	.	.	.	.	T	0.48390	0.1497	L	0.32530	0.975	0.09310	N	1	B;B	0.25105	0.118;0.118	B;B	0.35278	0.199;0.199	T	0.50154	-0.8861	9	0.45353	T	0.12	.	9.4592	0.38774	0.7071:0.0:0.2929:0.0	.	214;214	Q5DT01;P35503	.;UD13_HUMAN	L	214	ENSP00000418532:M214L	ENSP00000418532:M214L	M	+	1	0	UGT1A3	234303151	0.000000	0.05858	0.999000	0.59377	0.950000	0.60333	-0.595000	0.05727	0.444000	0.26612	0.477000	0.44152	ATG		0.463	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		58	139	0	0	0	0.00361	0	58	139				
TRAF3IP1	26146	broad.mit.edu	37	2	239237863	239237863	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:239237863G>T	ENST00000373327.4	+	5	1017	c.795G>T	c.(793-795)agG>agT	p.R265S	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R265S|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R265S	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	265	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		tgagagacagggaccgagagc	0.587																																							uc002vye.2		NA																	0				ovary(1)	1						c.(793-795)AGG>AGT		TNF receptor-associated factor 3 interacting							89.0	98.0	95.0					2																	239237863		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237863G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.795G>T	2.37:g.239237863G>T	ENSP00000362424:p.Arg265Ser					TRAF3IP1_uc002vyf.2_Missense_Mutation_p.R265S	p.R265S	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	5	914	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	265			Abolishes microtubules-binding when missing.|DISC1-interaction domain.|Arg-rich.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.795G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160772	0.57368	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.14640	2.49;2.49;2.49	3.92	-1.85	0.07784	.	0.833038	0.10746	N	0.638867	T	0.11793	0.0287	L	0.51422	1.61	0.09310	N	0.999999	P;P	0.42078	0.728;0.77	B;B	0.40375	0.165;0.327	T	0.12760	-1.0535	10	0.52906	T	0.07	-6.7123	4.7721	0.13160	0.3725:0.1492:0.4783:0.0	.	265;265	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	S	265	ENSP00000375851:R265S;ENSP00000362424:R265S;ENSP00000375852:R265S	ENSP00000362424:R265S	R	+	3	2	TRAF3IP1	238902602	0.511000	0.26179	0.000000	0.03702	0.201000	0.24016	-0.027000	0.12371	-0.736000	0.04831	0.655000	0.94253	AGG		0.587	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		5	12	1	0	0.000602214	0.000602	0.000770031	5	12				
FARP2	9855	broad.mit.edu	37	2	242343347	242343347	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:242343347G>C	ENST00000264042.3	+	3	458	c.288G>C	c.(286-288)tgG>tgC	p.W96C	FARP2_ENST00000545004.1_Splice_Site_p.W96C|FARP2_ENST00000373287.4_Splice_Site_p.W96C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	96	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGTCCTACTGGGTAAGTGCTT	0.468																																							uc002wbi.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(286-288)TGG>TGC		FERM, RhoGEF and pleckstrin domain protein 2							98.0	92.0	94.0					2																	242343347		2203	4300	6503	SO:0001630	splice_region_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242343347G>C	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.288+1G>C	2.37:g.242343347G>C						FARP2_uc010zoq.1_Missense_Mutation_p.W96C|FARP2_uc010zor.1_Missense_Mutation_p.W96C	p.W96C	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	3	405	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	96			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.288G>C	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687912	0.48097	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.9	4.9	0.64082	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.293921	0.35291	N	0.003312	D	0.86932	0.6052	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88115	0.2828	10	0.66056	D	0.02	.	15.3803	0.74651	0.0:0.0:1.0:0.0	.	96;96;96	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	96	ENSP00000264042:W96C;ENSP00000443876:W96C;ENSP00000362384:W96C;ENSP00000393376:W96C	ENSP00000264042:W96C	W	+	3	0	FARP2	241992020	1.000000	0.71417	0.999000	0.59377	0.382000	0.30200	7.002000	0.76304	2.429000	0.82318	0.650000	0.86243	TGG		0.468	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		Missense_Mutation	13	28	0	0	0	0.001855	0	13	28				
SLC52A3	113278	broad.mit.edu	37	20	744613	744613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:744613C>A	ENST00000217254.7	-	3	843	c.602G>T	c.(601-603)gGa>gTa	p.G201V	SLC52A3_ENST00000381944.3_Missense_Mutation_p.G201V|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	201					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										TGCTTCCATTCCGGGGAGGGC	0.587																																							uc002wed.3		NA																	0				ovary(2)	2						c.(601-603)GGA>GTA		hypothetical protein LOC113278 precursor							30.0	27.0	28.0					20																	744613		2201	4298	6499	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744613C>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.602G>T	20.37:g.744613C>A	ENSP00000217254:p.Gly201Val					C20orf54_uc002wee.2_Missense_Mutation_p.G201V	p.G201V	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			3	941	-			201					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.602G>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438248	0.04636	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.72394	-0.65;-0.65	2.49	0.472	0.16758	.	3.044690	0.01024	N	0.004033	T	0.51618	0.1685	N	0.08118	0	0.09310	N	0.999999	B;B	0.15473	0.013;0.003	B;B	0.16289	0.015;0.004	T	0.37709	-0.9694	10	0.29301	T	0.29	.	7.3212	0.26528	0.0:0.7363:0.0:0.2637	.	201;201	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	V	201	ENSP00000217254:G201V;ENSP00000371370:G201V	ENSP00000217254:G201V	G	-	2	0	C20orf54	692613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.013000	0.13310	-0.106000	0.12110	-1.134000	0.01955	GGA		0.587	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		8	14	1	0	0.00307968	0.00308	0.00388096	8	14				
TMC2	117532	broad.mit.edu	37	20	2597940	2597940	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:2597940T>A	ENST00000358864.1	+	16	2178	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	721					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CACCCTCCTTTGACTGCGGGC	0.632																																							uc002wgf.1		NA																	0				ovary(3)	3						c.(2161-2163)TTT>TTA		transmembrane cochlear-expressed protein 2							98.0	72.0	80.0					20																	2597940		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2597940T>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2163T>A	20.37:g.2597940T>A	ENSP00000351732:p.Phe721Leu					TMC2_uc002wgg.1_Missense_Mutation_p.F705L	p.F721L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			16	2178	+			721			Extracellular (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2163T>A	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098780	0.56183	.	.	ENSG00000149488	ENST00000358864	T	0.63744	-0.06	5.31	-3.01	0.05463	.	0.093853	0.85682	D	0.000000	T	0.65831	0.2729	L	0.46614	1.455	0.45962	D	0.998789	D	0.89917	1.0	D	0.87578	0.998	T	0.62742	-0.6790	10	0.22109	T	0.4	-8.2584	11.7861	0.52043	0.0:0.4747:0.0:0.5253	.	721	Q8TDI7	TMC2_HUMAN	L	721	ENSP00000351732:F721L	ENSP00000351732:F721L	F	+	3	2	TMC2	2545940	0.900000	0.30661	0.989000	0.46669	0.998000	0.95712	-0.026000	0.12392	-0.505000	0.06568	0.528000	0.53228	TTT		0.632	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			5	59	0	0	0	0.000602	0	5	59				
PAK7	57144	broad.mit.edu	37	20	9561076	9561076	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:9561076G>A	ENST00000378429.3	-	5	1252	c.706C>T	c.(706-708)Cct>Tct	p.P236S	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.P236S|PAK7_ENST00000353224.5_Missense_Mutation_p.P236S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	236	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTCTAGAAGGTGTGAATTGG	0.517																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(706-708)CCT>TCT		p21-activated kinase 7							66.0	64.0	65.0					20																	9561076		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561076G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.706C>T	20.37:g.9561076G>A	ENSP00000367686:p.Pro236Ser					PAK7_uc002wnk.2_Missense_Mutation_p.P236S|PAK7_uc002wnj.2_Missense_Mutation_p.P236S|PAK7_uc010gby.1_Missense_Mutation_p.P236S	p.P236S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1251	-			236			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.706C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965856	0.53507	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.28255	1.62;1.62;1.62	5.55	5.55	0.83447	.	0.106330	0.64402	D	0.000003	T	0.38295	0.1035	L	0.43152	1.355	0.44603	D	0.997577	P;P	0.50710	0.682;0.938	B;P	0.49140	0.154;0.601	T	0.02705	-1.1121	9	.	.	.	.	19.5262	0.95208	0.0:0.0:1.0:0.0	.	236;236	B0AZM9;Q9P286	.;PAK7_HUMAN	S	236;236;236;184	ENSP00000367686:P236S;ENSP00000322957:P236S;ENSP00000367679:P236S	.	P	-	1	0	PAK7	9509076	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.452000	0.73485	2.631000	0.89168	0.544000	0.68410	CCT		0.517	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			31	66	0	0	0	0.001786	0	31	66				
PCSK2	5126	broad.mit.edu	37	20	17462628	17462628	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:17462628G>T	ENST00000262545.2	+	12	2145	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N	PCSK2_ENST00000536609.1_Missense_Mutation_p.K575N|PCSK2_ENST00000377899.1_Missense_Mutation_p.K591N|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	610					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCAGTCCAAGTTGGCCATGT	0.582																																							uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1828-1830)AAG>AAT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						30.0	25.0	27.0					20																	17462628		2203	4298	6501	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462628G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1830G>T	20.37:g.17462628G>T	ENSP00000262545:p.Lys610Asn					PCSK2_uc002wpl.2_Missense_Mutation_p.K591N|PCSK2_uc010zrm.1_Missense_Mutation_p.K575N|PCSK2_uc002wpn.2_Missense_Mutation_p.K264N	p.K610N	NM_002594	NP_002585	P16519	NEC2_HUMAN			12	2150	+			610					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1830G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895444	0.72639	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.72505	-0.48;-0.48;-0.66	5.77	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.922	T	0.79974	-0.1577	10	0.72032	D	0.01	-36.917	6.7111	0.23278	0.2225:0.0:0.7775:0.0	.	575;591;610	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	N	591;610;575	ENSP00000367131:K591N;ENSP00000262545:K610N;ENSP00000437458:K575N	ENSP00000262545:K610N	K	+	3	2	PCSK2	17410628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.341000	0.59335	2.718000	0.92993	0.460000	0.39030	AAG		0.582	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		7	32	1	0	0.00198382	0.001984	0.00250656	7	32				
CST9	128822	broad.mit.edu	37	20	23584167	23584167	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:23584167G>T	ENST00000376971.3	-	2	471	c.460C>A	c.(460-462)Ccg>Acg	p.P154T		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	154						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TTGTCCCTCGGAATGGCTTTG	0.582																																							uc002wtl.2		NA																	0				ovary(1)	1						c.(460-462)CCG>ACG		cystatin 9 precursor							130.0	90.0	104.0					20																	23584167		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23584167G>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.460C>A	20.37:g.23584167G>T	ENSP00000366170:p.Pro154Thr						p.P154T	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			2	569	-	Colorectal(13;0.0993)		154					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.460C>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	G	4.234	0.042350	0.08196	.	.	ENSG00000173335	ENST00000376971	T	0.23754	1.89	2.27	0.114	0.14639	.	.	.	.	.	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B	0.25048	0.117	B	0.27076	0.076	T	0.30119	-0.9989	9	0.46703	T	0.11	.	7.9735	0.30140	0.0:0.5037:0.4963:0.0	.	154	Q5W186	CST9_HUMAN	T	154	ENSP00000366170:P154T	ENSP00000366170:P154T	P	-	1	0	CST9	23532167	0.015000	0.18098	0.000000	0.03702	0.005000	0.04900	1.480000	0.35464	0.051000	0.15978	-0.304000	0.09214	CCG		0.582	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		12	32	1	0	4.93089e-13	0.00245	8.05575e-13	12	32				
CST9	128822	broad.mit.edu	37	20	23586332	23586332	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:23586332G>A	ENST00000376971.3	-	1	181	c.170C>T	c.(169-171)aCt>aTt	p.T57I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	57						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CACGTTGAAAGTGTTCAAGGC	0.498																																							uc002wtl.2		NA																	0				ovary(1)	1						c.(169-171)ACT>ATT		cystatin 9 precursor							287.0	230.0	249.0					20																	23586332		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586332G>A	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.170C>T	20.37:g.23586332G>A	ENSP00000366170:p.Thr57Ile						p.T57I	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			1	279	-	Colorectal(13;0.0993)		57					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.170C>T	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.477925	0.12521	.	.	ENSG00000173335	ENST00000376971	T	0.26810	1.71	3.06	-1.83	0.07833	Proteinase inhibitor I25, cystatin (1);	1.820970	0.03799	N	0.264208	T	0.16599	0.0399	L	0.29908	0.895	0.09310	N	1	B	0.31769	0.339	B	0.31686	0.134	T	0.15093	-1.0449	10	0.37606	T	0.19	.	2.2661	0.04079	0.3251:0.0:0.2625:0.4123	.	57	Q5W186	CST9_HUMAN	I	57	ENSP00000366170:T57I	ENSP00000366170:T57I	T	-	2	0	CST9	23534332	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.713000	0.05007	-0.346000	0.08312	0.585000	0.79938	ACT		0.498	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		47	210	0	0	0	0.00361	0	47	210				
NINL	22981	broad.mit.edu	37	20	25450719	25450719	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:25450719A>G	ENST00000278886.6	-	18	3334	c.3261T>C	c.(3259-3261)caT>caC	p.H1087H	NINL_ENST00000422516.1_Silent_p.H738H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1087					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGAAAGTCTATGGAACTCCA	0.507											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3259-3261)CAT>CAC		ninein-like							141.0	142.0	142.0					20																	25450719		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25450719A>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3261T>C	20.37:g.25450719A>G			OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	779	NINL_uc010gdn.1_Silent_p.H738H	p.H1087H	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			18	3335	-			1087			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3261T>C	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	A	0.064	-1.217390	0.01542	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.85	-4.18	0.03846	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.815	0.8533	0.01177	0.2824:0.3173:0.2123:0.1879	.	.	.	.	Q	40	.	.	X	-	1	0	NINL	25398719	0.000000	0.05858	0.204000	0.23530	0.021000	0.10359	-0.574000	0.05868	-0.594000	0.05836	0.533000	0.62120	TAG		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		68	120	0	0	0	0.00361	0	68	120				
BPIFB4	149954	broad.mit.edu	37	20	31671678	31671678	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:31671678G>T	ENST00000375483.3	+	3	675	c.675G>T	c.(673-675)acG>acT	p.T225T		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	225	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AAGGCATCACGGGGTAAGGAG	0.627																																							uc010zue.1		NA																	0					0						c.(673-675)ACG>ACT		antimicrobial peptide RY2G5 precursor							30.0	34.0	33.0					20																	31671678		2173	4244	6417	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671678G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.675G>T	20.37:g.31671678G>T							p.T225T	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	690	+			225			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.675G>T	CCDS13213.2																																																																																				0.627	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		26	44	1	0	5.61819e-17	0.005443	1.00146e-16	26	44				
ZNF341	84905	broad.mit.edu	37	20	32357916	32357916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:32357916T>A	ENST00000375200.1	+	10	1805	c.1440T>A	c.(1438-1440)tgT>tgA	p.C480*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.C473*	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCAAAAGCTGTGCCCAGACGT	0.592																																							uc002wzy.2		NA																	0				ovary(2)	2						c.(1438-1440)TGT>TGA		zinc finger protein 341							60.0	52.0	54.0					20																	32357916		2203	4300	6503	SO:0001587	stop_gained	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32357916T>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1440T>A	20.37:g.32357916T>A	ENSP00000364346:p.Cys480*					ZNF341_uc002wzx.2_Nonsense_Mutation_p.C473*|ZNF341_uc010geq.2_Nonsense_Mutation_p.C390*|ZNF341_uc010ger.2_RNA	p.C480*	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			10	1460	+			480			C2H2-type 5.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	ENST00000375200.1	37	c.1440T>A		.	.	.	.	.	.	.	.	.	.	T	40	8.253952	0.98727	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.35	-2.64	0.06114	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0286	14.191	0.65637	0.0:0.5818:0.0:0.4182	.	.	.	.	X	473;480	.	ENSP00000344308:C473X	C	+	3	2	ZNF341	31821577	0.800000	0.28916	0.911000	0.35937	0.976000	0.68499	-0.085000	0.11250	-0.707000	0.05022	-0.443000	0.05667	TGT		0.592	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				11	40	0	0	0	0.008291	0	11	40				
GDF5	8200	broad.mit.edu	37	20	34021804	34021804	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:34021804C>A	ENST00000374372.1	-	4	1912	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Missense_Mutation_p.R470L			P43026	GDF5_HUMAN	growth differentiation factor 5	470					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGACTCAGCCGCGTGGGCAC	0.577																																							uc002xck.1		NA																	0					0						c.(1408-1410)CGG>CTG		growth differentiation factor 5 preproprotein							119.0	106.0	111.0					20																	34021804		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34021804C>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1409G>T	20.37:g.34021804C>A	ENSP00000363492:p.Arg470Leu					GDF5_uc010gfc.1_Missense_Mutation_p.R470L|uc002xcj.2_Missense_Mutation_p.P72Q|GDF5_uc010zvc.1_Missense_Mutation_p.R470L	p.R470L	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1728	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		470					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.1409G>T	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531651	0.64972	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.84223	-1.82;-1.82	4.41	4.41	0.53225	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	M	0.75264	2.295	0.51233	D	0.999912	D;D	0.59767	0.986;0.974	P;P	0.58077	0.811;0.832	D	0.92046	0.5644	10	0.72032	D	0.01	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	470;470	F1T0J1;P43026	.;GDF5_HUMAN	L	470	ENSP00000363489:R470L;ENSP00000363492:R470L	ENSP00000363489:R470L	R	-	2	0	GDF5	33485218	0.996000	0.38824	0.990000	0.47175	0.996000	0.88848	3.884000	0.56175	2.259000	0.74868	0.555000	0.69702	CGG		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			39	38	1	0	2.05212e-20	0.005524	3.87398e-20	39	38				
EMILIN3	90187	broad.mit.edu	37	20	39991455	39991455	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:39991455G>A	ENST00000332312.3	-	4	946	c.754C>T	c.(754-756)Cta>Tta	p.L252L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	252						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACCTTGCTTAGGATCTCGTCT	0.602																																							uc002xjy.1		NA																	0				ovary(1)	1						c.(754-756)CTA>TTA		elastin microfibril interfacer 3							68.0	73.0	71.0					20																	39991455		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39991455G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.754C>T	20.37:g.39991455G>A							p.L252L	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	978	-		Myeloproliferative disorder(115;0.00425)	252					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.754C>T	CCDS13316.1																																																																																				0.602	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		23	34	0	0	0	0.00278	0	23	34				
PTPRT	11122	broad.mit.edu	37	20	40714398	40714398	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:40714398G>A	ENST00000373187.1	-	28	3941	c.3942C>T	c.(3940-3942)caC>caT	p.H1314H	PTPRT_ENST00000373184.1_Silent_p.H1324H|PTPRT_ENST00000356100.2_Silent_p.H1323H|PTPRT_ENST00000373198.4_Silent_p.H1333H|PTPRT_ENST00000373193.3_Silent_p.H1317H|PTPRT_ENST00000373201.1_Silent_p.H1304H|PTPRT_ENST00000373190.1_Silent_p.H1313H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1314	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATATTCTGTGGATGATGT	0.577																																							uc002xkg.2		NA																	0		p.T1314A(1)		skin(8)|ovary(7)|lung(5)	20						c.(3940-3942)CAC>CAT		protein tyrosine phosphatase, receptor type, T							84.0	88.0	86.0					20																	40714398		1997	4165	6162	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40714398G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3942C>T	20.37:g.40714398G>A						PTPRT_uc010ggj.2_Silent_p.H1333H|PTPRT_uc010ggi.2_Silent_p.H517H	p.H1314H	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4126	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1314			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3942C>T	CCDS42874.1																																																																																				0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			56	58	0	0	0	0.00361	0	56	58				
L3MBTL1	26013	broad.mit.edu	37	20	42159463	42159463	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:42159463G>T	ENST00000427442.2	+	11	1311	c.1152G>T	c.(1150-1152)tgG>tgT	p.W384C	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.W316C|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.W316C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.W384C|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.W316C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	316	Interaction with monomethylated and dimethylated peptides.				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						AGTTCAGCTGGAGCCAGTACC	0.622																																							uc010zwh.1		NA																	0					0						c.(1150-1152)TGG>TGT		l(3)mbt-like isoform I							74.0	66.0	68.0					20																	42159463		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.chr20:42159463G>T	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.1152G>T	20.37:g.42159463G>T	ENSP00000402107:p.Trp384Cys					L3MBTL_uc002xkl.2_Missense_Mutation_p.W316C|L3MBTL_uc002xkm.2_Missense_Mutation_p.W316C|L3MBTL_uc010ggl.2_Missense_Mutation_p.W316C|L3MBTL_uc002xkn.1_Missense_Mutation_p.W75C|L3MBTL_uc002xko.2_5'Flank	p.W384C	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1198	+		Myeloproliferative disorder(115;0.00452)	316			MBT 2.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1152G>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498623	0.85069	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.94449	0.7665	10	0.72032	D	0.01	.	18.0536	0.89357	0.0:0.0:1.0:0.0	.	384;316;316	Q9Y468-5;Q9Y468-2;Q9Y468-1	.;.;.	C	384;384;316;316;316;102	ENSP00000402107:W384C;ENSP00000398516:W384C;ENSP00000362227:W316C;ENSP00000403316:W316C;ENSP00000362226:W316C;ENSP00000410139:W102C	ENSP00000362226:W316C	W	+	3	0	L3MBTL1	41592877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.709000	0.98729	2.642000	0.89623	0.655000	0.94253	TGG		0.622	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		16	33	1	0	3.41278e-10	0.00499	5.2788e-10	16	33				
MYBL2	4605	broad.mit.edu	37	20	42331433	42331433	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:42331433G>T	ENST00000217026.4	+	8	1382	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MYBL2_ENST00000396863.4_Missense_Mutation_p.A395S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	419					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGGCGTGTGGCTCTGTCCCC	0.612																																							uc002xlb.1		NA																	0				lung(3)|kidney(2)	5						c.(1255-1257)GCT>TCT		MYB-related protein B							118.0	92.0	100.0					20																	42331433		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331433G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1255G>T	20.37:g.42331433G>T	ENSP00000217026:p.Ala419Ser					MYBL2_uc010zwj.1_Missense_Mutation_p.A395S|MYBL2_uc002xla.1_Missense_Mutation_p.A419S	p.A419S	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1470	+		Myeloproliferative disorder(115;0.00452)	419					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1255G>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128764	0.21041	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.13538	2.58;2.58	4.99	2.65	0.31530	.	0.279063	0.40818	N	0.001018	T	0.04543	0.0124	N	0.08118	0	0.35408	D	0.792193	B;B	0.17667	0.023;0.022	B;B	0.16289	0.015;0.01	T	0.32322	-0.9911	10	0.02654	T	1	-20.7724	4.8019	0.13301	0.4182:0.0:0.5818:0.0	.	395;419	F8W6N6;P10244	.;MYBB_HUMAN	S	395;419	ENSP00000380072:A395S;ENSP00000217026:A419S	ENSP00000217026:A419S	A	+	1	0	MYBL2	41764847	0.979000	0.34478	0.975000	0.42487	0.719000	0.41307	1.703000	0.37846	1.239000	0.43787	0.462000	0.41574	GCT		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		36	37	1	0	4.34311e-12	0.003271	6.91867e-12	36	37				
SLC12A5	57468	broad.mit.edu	37	20	44664148	44664148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:44664148G>A	ENST00000454036.2	+	3	371	c.322G>A	c.(322-324)Gag>Aag	p.E108K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E85K|SLC12A5_ENST00000372315.1_Missense_Mutation_p.E85K|SLC12A5_ENST00000608944.1_Missense_Mutation_p.E34K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	108					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGAAAACAATGAGGGTGGAAA	0.572																																							uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(322-324)GAG>AAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						61.0	69.0	66.0					20																	44664148		2202	4300	6502	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664148G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.322G>A	20.37:g.44664148G>A	ENSP00000387694:p.Glu108Lys					SLC12A5_uc002xra.2_Missense_Mutation_p.E85K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E85K	p.E108K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			3	398	+		Myeloproliferative disorder(115;0.0122)	108			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.322G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594924	0.66219	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95137	-1.88;-3.19;-3.62;-1.87	4.81	4.81	0.61882	.	0.188109	0.45606	D	0.000348	D	0.89701	0.6791	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29716	0.004;0.185;0.255	B;B;B	0.31946	0.01;0.138;0.053	D	0.86897	0.2052	10	0.19147	T	0.46	.	16.6093	0.84858	0.0:0.0:1.0:0.0	.	108;85;85	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	K	108;85;85;85	ENSP00000387694:E108K;ENSP00000361389:E85K;ENSP00000446091:E85K;ENSP00000243964:E85K	ENSP00000243964:E85K	E	+	1	0	SLC12A5	44097555	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.254000	0.78329	2.494000	0.84150	0.563000	0.77884	GAG		0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			37	65	0	0	0	0.004878	0	37	65				
SLC12A5	57468	broad.mit.edu	37	20	44674636	44674636	+	Splice_Site	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:44674636G>A	ENST00000454036.2	+	13	1806		c.e13+1		SLC12A5_ENST00000243964.3_Splice_Site	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTCTCTATGTGCGTGCCTG	0.582																																							uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.e13+1		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						171.0	148.0	156.0					20																	44674636		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674636G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1757+1G>A	20.37:g.44674636G>A						SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.M563_splice	p.M586_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			13	1833	+		Myeloproliferative disorder(115;0.0122)						A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.1757_splice	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741798	0.69304	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.858	0.79000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A5	44108043	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	9.648000	0.98483	2.317000	0.78254	0.563000	0.77884	.		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Intron	80	181	0	0	0	0.00361	0	80	181				
SULF2	55959	broad.mit.edu	37	20	46331302	46331302	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:46331302C>A	ENST00000359930.4	-	4	1379	c.528G>T	c.(526-528)cgG>cgT	p.R176R	SULF2_ENST00000484875.1_Silent_p.R176R|SULF2_ENST00000467815.1_Silent_p.R176R|SULF2_ENST00000361612.4_Silent_p.R176R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	176					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACCCCGTTCCGACACAGCG	0.542																																							uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(526-528)CGG>CGT		sulfatase 2 isoform a precursor							77.0	69.0	72.0					20																	46331302		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46331302C>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.528G>T	20.37:g.46331302C>A						SULF2_uc002xtr.2_Silent_p.R176R|SULF2_uc002xtq.2_Silent_p.R176R|SULF2_uc010ghv.1_Silent_p.R176R	p.R176R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			4	858	-			176					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.528G>T	CCDS13408.1																																																																																				0.542	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		16	32	1	0	4.7546e-09	0.004007	7.12448e-09	16	32				
PREX1	57580	broad.mit.edu	37	20	47307504	47307504	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:47307504G>T	ENST00000371941.3	-	9	1189	c.1167C>A	c.(1165-1167)cgC>cgA	p.R389R	PREX1_ENST00000396220.1_Silent_p.R389R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	389	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCCCGCTCGCGGATGATGG	0.592																																							uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(1165-1167)CGC>CGA		phosphatidylinositol-3,4,							109.0	89.0	96.0					20																	47307504		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47307504G>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1167C>A	20.37:g.47307504G>T							p.R389R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		9	1190	-			389			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1167C>A	CCDS13410.1																																																																																				0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		40	47	1	0	2.51966e-14	0.00361	4.21702e-14	40	47				
PTPN1	5770	broad.mit.edu	37	20	49177900	49177900	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:49177900G>T	ENST00000371621.3	+	2	238	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	Y_RNA_ENST00000364631.1_RNA|PTPN1_ENST00000541713.1_Intron	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	22	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TTTTTTGTAGGATATCCGACA	0.443																																							uc002xvl.2		NA																	0					0						c.(64-66)GAT>TAT		protein tyrosine phosphatase, non-receptor type	Clodronate(DB00720)|Tiludronate(DB01133)						116.0	103.0	107.0					20																	49177900		2203	4300	6503	SO:0001630	splice_region_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49177900G>T		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.64-1G>T	20.37:g.49177900G>T						PTPN1_uc010zys.1_Intron	p.D22Y	NM_002827	NP_002818	P18031	PTN1_HUMAN			2	238	+		Lung NSC(126;0.163)	22			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.64G>T	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529747	0.64860	.	.	ENSG00000196396	ENST00000371621	T	0.03124	4.04	5.02	5.02	0.67125	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.090402	0.46442	D	0.000296	T	0.06735	0.0172	M	0.72894	2.215	0.80722	D	1	B	0.29835	0.258	B	0.19666	0.026	T	0.25187	-1.0139	9	.	.	.	.	17.2684	0.87093	0.0:0.0:1.0:0.0	.	22	P18031	PTN1_HUMAN	Y	22	ENSP00000360683:D22Y	.	D	+	1	0	PTPN1	48611307	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.318000	0.79029	2.602000	0.87976	0.650000	0.86243	GAT		0.443	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		Missense_Mutation	25	45	1	0	4.47668e-21	0.003954	8.50126e-21	25	45				
CBLN4	140689	broad.mit.edu	37	20	54579055	54579055	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:54579055G>T	ENST00000064571.2	-	1	1473	c.173C>A	c.(172-174)tCc>tAc	p.S58Y		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	58					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCCCAGCGGGGAGGAAGAGGA	0.657																																							uc002xxa.2		NA																	0				ovary(3)|pancreas(1)	4						c.(172-174)TCC>TAC		cerebellin 4 precursor							73.0	76.0	75.0					20																	54579055		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54579055G>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.173C>A	20.37:g.54579055G>T	ENSP00000064571:p.Ser58Tyr						p.S58Y	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	958	-			58					A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.173C>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602277	0.87055	.	.	ENSG00000054803	ENST00000064571	D	0.85629	-2.01	5.16	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.68952	2.095	0.80722	D	1	D	0.60575	0.988	P	0.55667	0.781	D	0.88705	0.3218	10	0.59425	D	0.04	-17.2334	12.1484	0.54036	0.0795:0.0:0.9205:0.0	.	58	Q9NTU7	CBLN4_HUMAN	Y	58	ENSP00000064571:S58Y	ENSP00000064571:S58Y	S	-	2	0	CBLN4	54012462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.650000	0.91073	1.311000	0.45024	0.655000	0.94253	TCC		0.657	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		37	46	1	0	1.06647e-15	0.003755	1.8528e-15	37	46				
SYCP2	10388	broad.mit.edu	37	20	58461890	58461890	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:58461890C>T	ENST00000357552.3	-	25	2590		c.e25-1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACTTTTCTCTCTGAAAAAAAT	0.269																																							uc002yaz.2		NA																	0				ovary(3)|lung(2)	5						c.e24-1		synaptonemal complex protein 2							67.0	62.0	64.0					20																	58461890		2198	4287	6485	SO:0001630	splice_region_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58461890C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2365-1G>A	20.37:g.58461890C>T							p.R789_splice	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2504	-	all_lung(29;0.00344)							A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	37	c.2365_splice	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913521	0.17907	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3705	0.83355	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57895285	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	4.360000	0.59455	2.598000	0.87819	0.591000	0.81541	.		0.269	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Intron	25	26	0	0	0	0.00278	0	25	26				
FAM217B	63939	broad.mit.edu	37	20	58519910	58519910	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:58519910G>T	ENST00000358293.3	+	5	1327	c.912G>T	c.(910-912)caG>caT	p.Q304H	FAM217B_ENST00000360816.3_Missense_Mutation_p.Q304H|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	304																	CGAAGCTGCAGCGCTGGGATC	0.483																																							uc002yba.2		NA																	0				ovary(2)|breast(1)	3						c.(910-912)CAG>CAT		hypothetical protein LOC63939							48.0	51.0	50.0					20																	58519910		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519910G>T	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.912G>T	20.37:g.58519910G>T	ENSP00000351040:p.Gln304His					C20orf177_uc010zzx.1_Missense_Mutation_p.Q147H|C20orf177_uc002ybc.2_Missense_Mutation_p.Q304H	p.Q304H	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	1327	+	all_lung(29;0.00693)		304					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.912G>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413149	0.25465	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.27720	1.65;1.65	5.38	-0.755	0.11061	.	0.095438	0.42821	D	0.000648	T	0.38161	0.1030	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	T	0.37033	-0.9723	10	0.66056	D	0.02	-17.2098	12.8973	0.58106	0.4241:0.0:0.5759:0.0	.	304	Q9NTX9	CT177_HUMAN	H	304	ENSP00000351040:Q304H;ENSP00000354056:Q304H	ENSP00000351040:Q304H	Q	+	3	2	C20orf177	57953305	0.449000	0.25689	0.002000	0.10522	0.032000	0.12392	0.394000	0.20834	-0.190000	0.10465	-0.921000	0.02739	CAG		0.483	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		25	53	1	0	9.86323e-18	0.003954	1.78133e-17	25	53				
DIDO1	11083	broad.mit.edu	37	20	61542745	61542745	+	Missense_Mutation	SNP	C	C	A	rs182296617		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:61542745C>A	ENST00000266070.4	-	3	545	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	DIDO1_ENST00000370366.1_Missense_Mutation_p.V74L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V74L|DIDO1_ENST00000370371.4_Missense_Mutation_p.V74L|DIDO1_ENST00000370368.1_Missense_Mutation_p.V74L|DIDO1_ENST00000395335.2_Missense_Mutation_p.V74L|DIDO1_ENST00000266071.5_Missense_Mutation_p.V74L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V74L|DIDO1_ENST00000354665.4_Missense_Mutation_p.V74L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	74					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTGCTCCACGCGCTCAGTG	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(220-222)GTG>TTG		death inducer-obliterator 1 isoform c							28.0	29.0	29.0					20																	61542745		2202	4298	6500	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542745C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.220G>T	20.37:g.61542745C>A	ENSP00000266070:p.Val74Leu					DIDO1_uc002yds.1_Missense_Mutation_p.V74L|DIDO1_uc002ydt.1_Missense_Mutation_p.V74L|DIDO1_uc002ydu.1_Missense_Mutation_p.V74L|DIDO1_uc002ydv.1_Missense_Mutation_p.V74L|DIDO1_uc002ydw.1_Missense_Mutation_p.V74L|DIDO1_uc002ydx.1_Missense_Mutation_p.V74L|DIDO1_uc011aao.1_Missense_Mutation_p.V74L	p.V74L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			3	484	-	Breast(26;5.68e-08)		74					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.220G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918688	0.33908	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18502	2.99;2.99;2.77;2.77;2.21;2.21;2.21;2.23;2.23	5.83	4.88	0.63580	.	0.000000	0.37304	U	0.002145	T	0.36138	0.0956	L	0.52266	1.64	0.37858	D	0.929629	D;P;B;B	0.89917	1.0;0.754;0.022;0.139	D;P;B;B	0.72625	0.978;0.526;0.024;0.034	T	0.23547	-1.0185	10	0.42905	T	0.14	-34.1208	16.316	0.82928	0.1333:0.8667:0.0:0.0	.	74;74;74;74	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	L	74	ENSP00000266070:V74L;ENSP00000378752:V74L;ENSP00000378749:V74L;ENSP00000378744:V74L;ENSP00000359397:V74L;ENSP00000359394:V74L;ENSP00000346692:V74L;ENSP00000359391:V74L;ENSP00000266071:V74L	ENSP00000266070:V74L	V	-	1	0	DIDO1	61013190	0.999000	0.42202	0.882000	0.34594	0.109000	0.19521	3.869000	0.56062	1.459000	0.47892	-0.182000	0.12963	GTG		0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		18	20	1	0	1.33834e-09	0.007413	2.0308e-09	18	20				
COL20A1	57642	broad.mit.edu	37	20	61959818	61959818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:61959818G>A	ENST00000358894.6	+	34	3849	c.3749G>A	c.(3748-3750)tGg>tAg	p.W1250*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.W1263*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.W1263*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.W1282*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1250					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGAGAATGGGGGCGTGGT	0.701																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(3748-3750)TGG>TAG		collagen, type XX, alpha 1							17.0	22.0	20.0					20																	61959818		1929	4124	6053	SO:0001587	stop_gained	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959818G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3749G>A	20.37:g.61959818G>A	ENSP00000351767:p.Trp1250*					COL20A1_uc011aav.1_Nonsense_Mutation_p.W1077*	p.W1250*	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			34	3849	+	all_cancers(38;1.39e-10)		1250					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Nonsense_Mutation	SNP	ENST00000358894.6	37	c.3749G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	36	5.860167	0.97036	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.08	-4.46	0.03536	.	1.460060	0.04427	U	0.368583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	0.709	0.00921	0.3312:0.166:0.3351:0.1677	.	.	.	.	X	1250;1282;1263;1263;391;246	.	ENSP00000323077:W1282X	W	+	2	0	COL20A1	61430262	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.570000	0.02140	-0.758000	0.04690	0.313000	0.20887	TGG		0.701	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		11	18	0	0	0	0.00245	0	11	18				
NCAM2	4685	broad.mit.edu	37	21	22881243	22881243	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:22881243G>C	ENST00000400546.1	+	16	2398	c.2149G>C	c.(2149-2151)Gtg>Ctg	p.V717L	NCAM2_ENST00000284894.7_Missense_Mutation_p.V575L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	717					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTAATTCTTGTGGTAACAGA	0.423																																							uc002yld.1		NA																	0				ovary(4)	4						c.(2149-2151)GTG>CTG		neural cell adhesion molecule 2 precursor							94.0	90.0	91.0					21																	22881243		1978	4166	6144	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22881243G>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2149G>C	21.37:g.22881243G>C	ENSP00000383392:p.Val717Leu					NCAM2_uc011acb.1_Missense_Mutation_p.V575L	p.V717L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	16	2398	+		Lung NSC(9;0.195)	717			Helical; (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2149G>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494576	0.64186	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.60672	0.17;0.25	4.98	4.98	0.66077	.	0.107664	0.64402	D	0.000007	T	0.44393	0.1291	N	0.20328	0.56	0.80722	D	1	P;P	0.37441	0.595;0.595	B;B	0.34931	0.192;0.192	T	0.46898	-0.9158	10	0.44086	T	0.13	-14.0837	17.699	0.88289	0.0:0.0:1.0:0.0	.	575;717	B7Z5K2;O15394	.;NCAM2_HUMAN	L	717;575	ENSP00000383392:V717L;ENSP00000284894:V575L	ENSP00000284894:V575L	V	+	1	0	NCAM2	21803114	1.000000	0.71417	0.995000	0.50966	0.876000	0.50452	9.327000	0.96396	2.689000	0.91719	0.643000	0.83706	GTG		0.423	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		30	8	0	0	0	0.003271	0	30	8				
IL10RB	3588	broad.mit.edu	37	21	34655489	34655489	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:34655489G>C	ENST00000290200.2	+	5	697	c.589G>C	c.(589-591)Gat>Cat	p.D197H	AP000295.9_ENST00000433395.2_Silent_p.L324L	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTTTCTTCCTGATCGGAACAA	0.478																																					Melanoma(67;315 1275 21667 21943 44564)	Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NA																	0					0						c.(589-591)GAT>CAT		interleukin 10 receptor, beta precursor							142.0	126.0	131.0					21																	34655489		2203	4300	6503	SO:0001583	missense	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34655489G>C	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.589G>C	21.37:g.34655489G>C	ENSP00000290200:p.Asp197His					IL10RB_uc002yrh.1_Missense_Mutation_p.D267H|IL10RB_uc002yri.1_Missense_Mutation_p.D150H|IL10RB_uc002yrl.1_Missense_Mutation_p.D199H	p.D197H	NM_000628	NP_000619	Q08334	I10R2_HUMAN			5	688	+			197			Fibronectin type-III.|Extracellular (Potential).		Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.589G>C	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881327	0.51801	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.30714	1.52	5.39	2.59	0.31030	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.072000	0.07208	N	0.858585	T	0.45458	0.1343	M	0.67953	2.075	0.09310	N	1	D;D;D;P	0.60575	0.988;0.975;0.975;0.818	P;P;P;P	0.59221	0.854;0.806;0.806;0.623	T	0.27226	-1.0080	10	0.18710	T	0.47	-6.8008	7.7282	0.28771	0.2687:0.0:0.7313:0.0	.	199;197;197;197	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	H	197	ENSP00000290200:D197H	ENSP00000290200:D197H	D	+	1	0	IL10RB	33577359	0.709000	0.27886	0.005000	0.12908	0.783000	0.44284	3.679000	0.54634	0.660000	0.30964	0.561000	0.74099	GAT		0.478	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			3	44	0	0	0	0.004672	0	3	44				
IFNAR1	3454	broad.mit.edu	37	21	34721562	34721562	+	Missense_Mutation	SNP	G	G	T	rs578193831		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:34721562G>T	ENST00000270139.3	+	7	1106	c.954G>T	c.(952-954)tgG>tgT	p.W318C	IFNAR1_ENST00000416947.2_Missense_Mutation_p.W249C|IFNAR1_ENST00000442357.2_Missense_Mutation_p.W318C	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	318	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CATCTTTTTGGTCTGAAGAGA	0.343																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(952-954)TGG>TGT		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						95.0	95.0	95.0					21																	34721562		2203	4300	6503	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34721562G>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.954G>T	21.37:g.34721562G>T	ENSP00000270139:p.Trp318Cys					IFNAR1_uc011adv.1_Missense_Mutation_p.W249C	p.W318C	NM_000629	NP_000620	P17181	INAR1_HUMAN			7	1101	+			318			Fibronectin type-III 2.|Extracellular (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.954G>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.43294	0.95;0.95;0.95	5.56	5.56	0.83823	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.147468	0.49305	D	0.000142	T	0.69824	0.3154	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75224	-0.3393	10	0.87932	D	0	-7.8403	15.3956	0.74790	0.0:0.0:1.0:0.0	.	318	P17181	INAR1_HUMAN	C	249;318;318	ENSP00000395606:W249C;ENSP00000270139:W318C;ENSP00000407406:W318C	ENSP00000270139:W318C	W	+	3	0	IFNAR1	33643432	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	4.662000	0.61525	2.776000	0.95493	0.655000	0.94253	TGG		0.343	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			47	9	1	0	3.21987e-24	0.00361	6.25072e-24	47	9				
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001						uc002zji.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(418-420)CCA>CCG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G						PCNT_uc002zjj.2_Silent_p.P22P|PCNT_uc010gqk.1_RNA	p.P140P	NM_006031	NP_006022	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	47	0	0	0	0.000248	0	3	47				
PRODH	5625	broad.mit.edu	37	22	18918567	18918567	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:18918567C>T	ENST00000357068.6	-	2	683	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	PRODH_ENST00000334029.2_Missense_Mutation_p.A32T|PRODH_ENST00000420436.1_Missense_Mutation_p.A32T	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	140					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCCAGGATGGCGCTGACACCG	0.597																																							uc010grl.2		NA																	0				breast(1)	1						c.(418-420)GCC>ACC		proline dehydrogenase 1	L-Proline(DB00172)						72.0	71.0	71.0					22																	18918567		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18918567C>T	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.418G>A	22.37:g.18918567C>T	ENSP00000349577:p.Ala140Thr					PRODH_uc002zoj.3_Missense_Mutation_p.A30T|PRODH_uc002zol.3_Missense_Mutation_p.A30T|PRODH_uc002zok.3_Missense_Mutation_p.A140T	p.A140T	NM_016335	NP_057419	O43272	PROD_HUMAN			2	432	-			140					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.418G>A	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	4.809	0.150505	0.09185	.	.	ENSG00000100033	ENST00000357068	T	0.77489	-1.1	4.16	2.0	0.26442	.	0.326111	0.28641	N	0.014623	T	0.54078	0.1836	N	0.10760	0.04	0.27050	N	0.963794	B;B;B	0.13594	0.008;0.004;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.45011	-0.9290	10	0.45353	T	0.12	-19.3794	5.9175	0.19063	0.6642:0.1746:0.0:0.1612	.	56;140;32	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	T	140	ENSP00000349577:A140T	ENSP00000334726:A32T	A	-	1	0	PRODH	17298567	1.000000	0.71417	0.998000	0.56505	0.090000	0.18270	1.750000	0.38329	0.270000	0.21984	-1.410000	0.01125	GCC		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		11	48	0	0	0	0.008291	0	11	48				
SEZ6L	23544	broad.mit.edu	37	22	26747120	26747120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:26747120G>T	ENST00000248933.6	+	12	2605	c.2510G>T	c.(2509-2511)gGt>gTt	p.G837V	SEZ6L_ENST00000402979.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G837V|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G837V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G34V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G837V			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	837	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAACCCCGGTTTTGTGCTT	0.572																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2509-2511)GGT>GTT		seizure related 6 homolog (mouse)-like							132.0	113.0	119.0					22																	26747120		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747120G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2510G>T	22.37:g.26747120G>T	ENSP00000248933:p.Gly837Val					SEZ6L_uc003acc.2_Missense_Mutation_p.G837V|SEZ6L_uc011akc.1_Missense_Mutation_p.G837V|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.G837V|SEZ6L_uc003ace.2_Missense_Mutation_p.G837V|SEZ6L_uc003acf.1_Missense_Mutation_p.G610V|SEZ6L_uc010gvc.1_Missense_Mutation_p.G610V|SEZ6L_uc011ake.1_RNA	p.G837V	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			12	2666	+			837			Sushi 4.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2510G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.517279	0.85495	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000037	D	0.92374	0.7580	H	0.97829	4.085	0.80722	D	1	P;P;D;D;P;P	0.76494	0.803;0.933;0.997;0.999;0.833;0.933	P;P;D;D;P;P	0.74023	0.653;0.876;0.982;0.959;0.745;0.876	D	0.95241	0.8351	10	0.87932	D	0	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	837;837;610;837;837;837	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	V	837;837;837;837;610;610;34	ENSP00000384772:G837V;ENSP00000437037:G837V;ENSP00000248933:G837V;ENSP00000342661:G837V;ENSP00000384838:G610V;ENSP00000384733:G610V;ENSP00000397274:G34V	ENSP00000248933:G837V	G	+	2	0	SEZ6L	25077120	1.000000	0.71417	0.885000	0.34714	0.841000	0.47740	6.982000	0.76173	2.381000	0.81170	0.539000	0.68188	GGT		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			12	34	1	0	2.27111e-07	0.001368	3.25074e-07	12	34				
MN1	4330	broad.mit.edu	37	22	28146947	28146947	+	Missense_Mutation	SNP	C	C	T	rs568489325		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:28146947C>T	ENST00000302326.4	-	2	4873	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1307					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGAGATGTCAGAATGCAGG	0.592			T	ETV6	"""AML, meningioma"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0						uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3919-3921)GAC>AAC		meningioma  1							71.0	80.0	77.0					22																	28146947		2032	4185	6217	SO:0001583	missense	4330						binding	g.chr22:28146947C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3919G>A	22.37:g.28146947C>T	ENSP00000304956:p.Asp1307Asn					MN1_uc010gvg.2_RNA	p.D1307N	NM_002430	NP_002421	Q10571	MN1_HUMAN			2	4874	-			1307					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3919G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741417	0.89573	.	.	ENSG00000169184	ENST00000302326	T	0.58940	0.3	3.41	3.41	0.39046	.	0.000000	0.64402	D	0.000002	T	0.62109	0.2401	N	0.19112	0.55	0.49299	D	0.999776	D	0.89917	1.0	D	0.87578	0.998	T	0.69135	-0.5225	10	0.87932	D	0	-32.2694	15.0733	0.72056	0.0:1.0:0.0:0.0	.	1307	Q10571	MN1_HUMAN	N	1307	ENSP00000304956:D1307N	ENSP00000304956:D1307N	D	-	1	0	MN1	26476947	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.869000	0.75521	2.187000	0.69744	0.561000	0.74099	GAC		0.592	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		16	24	0	0	0	0.004007	0	16	24				
INPP5J	27124	broad.mit.edu	37	22	31529925	31529925	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:31529925C>A	ENST00000331075.5	+	13	2590	c.2541C>A	c.(2539-2541)gcC>gcA	p.A847A	INPP5J_ENST00000402238.1_Silent_p.A186A|INPP5J_ENST00000404453.1_Silent_p.A212A|INPP5J_ENST00000404390.3_Silent_p.A479A|INPP5J_ENST00000400294.2_Silent_p.A480A|INPP5J_ENST00000412277.2_Silent_p.A780A|INPP5J_ENST00000401755.1_Silent_p.A212A|INPP5J_ENST00000405300.1_Silent_p.A480A	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	847	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CGGAGTTGGCCAGCAGCAGCA	0.647																																							uc003aju.3		NA																	0				skin(1)	1						c.(2539-2541)GCC>GCA		phosphatidylinositol (4,5) bisphosphate							29.0	34.0	32.0					22																	31529925		2174	4272	6446	SO:0001819	synonymous_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31529925C>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2541C>A	22.37:g.31529925C>A						INPP5J_uc003ajv.3_Silent_p.A480A|INPP5J_uc003ajs.3_Silent_p.A480A|INPP5J_uc011alk.1_Silent_p.A780A|INPP5J_uc010gwg.2_Silent_p.A412A|INPP5J_uc003ajw.2_3'UTR|INPP5J_uc003ajt.3_Silent_p.A479A|INPP5J_uc003ajx.2_Silent_p.A212A|INPP5J_uc003ajy.2_Silent_p.A186A|INPP5J_uc003ajz.2_Silent_p.A287A	p.A847A	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			13	2633	+			847			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37	c.2541C>A																																																																																					0.647	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		15	19	1	0	3.32936e-07	0.006122	4.74421e-07	15	19				
MCM5	4174	broad.mit.edu	37	22	35806852	35806852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:35806852C>T	ENST00000216122.4	+	7	1022	c.868C>T	c.(868-870)Cga>Tga	p.R290*	MCM5_ENST00000382011.5_Nonsense_Mutation_p.R247*	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	290					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTGGGCATCCGAAGCTCCTA	0.587																																							uc003anu.3		NA																	0				ovary(1)	1						c.(868-870)CGA>TGA		minichromosome maintenance complex component 5							127.0	100.0	109.0					22																	35806852		2203	4300	6503	SO:0001587	stop_gained	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35806852C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.868C>T	22.37:g.35806852C>T	ENSP00000216122:p.Arg290*					MCM5_uc010gwr.2_Nonsense_Mutation_p.R99*|MCM5_uc003anv.3_Nonsense_Mutation_p.R247*|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Nonsense_Mutation_p.R74*	p.R290*	NM_006739	NP_006730	P33992	MCM5_HUMAN			7	962	+			290					O60785|Q14578|Q9BTJ4|Q9BWL8	Nonsense_Mutation	SNP	ENST00000216122.4	37	c.868C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.025243	0.97211	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000444778	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4006	19.3449	0.94359	0.0:1.0:0.0:0.0	.	.	.	.	X	290;247;199;147	.	ENSP00000216122:R290X	R	+	1	2	MCM5	34136852	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.217000	0.77982	2.651000	0.90000	0.561000	0.74099	CGA		0.587	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			12	26	0	0	0	0.000978	0	12	26				
RPL3	6122	broad.mit.edu	37	22	39713540	39713540	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:39713540T>A	ENST00000216146.4	-	3	464	c.291A>T	c.(289-291)cgA>cgT	p.R97R	RPL3_ENST00000401609.1_Silent_p.R45R|SNORD83A_ENST00000386747.1_RNA|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	97					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TCCGGAGGCCTCGAGGGGTTT	0.532																																							uc003axi.2		NA																	0				breast(1)|kidney(1)	2						c.(289-291)CGA>CGT		ribosomal protein L3 isoform a							124.0	122.0	123.0					22																	39713540		2203	4300	6503	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39713540T>A	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.291A>T	22.37:g.39713540T>A						RPL3_uc003axh.2_Silent_p.R97R|RPL3_uc003axj.2_5'UTR|RPL3_uc011aoj.1_Silent_p.R97R|RPL3_uc010gxx.2_Silent_p.R45R|RPL3_uc003axg.2_Silent_p.R45R|RPL3_uc003axk.1_5'UTR	p.R97R	NM_000967	NP_000958	P39023	RL3_HUMAN			3	359	-	Melanoma(58;0.04)		97					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.291A>T	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879585	0.33162	.	.	ENSG00000100316	ENST00000427905	T	0.44482	0.92	5.2	0.182	0.15077	.	0.112909	0.64402	D	0.000011	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32981	-0.9886	7	0.87932	D	0	.	0.3674	0.00374	0.3952:0.1684:0.2065:0.2299	.	.	.	.	W	129	ENSP00000412713:R129W	ENSP00000412713:R129W	R	-	1	2	RPL3	38043486	0.085000	0.21516	0.947000	0.38551	0.996000	0.88848	-0.523000	0.06230	0.002000	0.14630	0.459000	0.35465	AGG		0.532	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		35	79	0	0	0	0.002836	0	35	79				
TCF20	6942	broad.mit.edu	37	22	42607645	42607645	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:42607645G>C	ENST00000359486.3	-	1	3803	c.3667C>G	c.(3667-3669)Cta>Gta	p.L1223V	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.L1223V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTCAGCTAGTCCATGTCCA	0.512																																							uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(3667-3669)CTA>GTA		transcription factor 20 isoform 1							100.0	93.0	95.0					22																	42607645		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607645G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3667C>G	22.37:g.42607645G>C	ENSP00000352463:p.Leu1223Val					TCF20_uc003bck.1_Missense_Mutation_p.L1223V|TCF20_uc003bnt.2_Missense_Mutation_p.L1223V	p.L1223V	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3801	-			1223					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3667C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	3.646	-0.072463	0.07228	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.57273	0.42;0.41	5.34	4.33	0.51752	.	0.292125	0.25786	N	0.028318	T	0.29389	0.0732	N	0.14661	0.345	0.28101	N	0.931407	P;P	0.40794	0.729;0.61	B;B	0.39027	0.288;0.15	T	0.27640	-1.0068	10	0.02654	T	1	-10.9749	10.3024	0.43661	0.1489:0.0:0.8511:0.0	.	1223;1223	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	1223	ENSP00000352463:L1223V;ENSP00000335561:L1223V	ENSP00000335561:L1223V	L	-	1	2	TCF20	40937589	0.988000	0.35896	0.135000	0.22099	0.984000	0.73092	4.045000	0.57368	1.490000	0.48466	0.650000	0.86243	CTA		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		19	23	0	0	0	0.006122	0	19	23				
PKDREJ	10343	broad.mit.edu	37	22	46655173	46655173	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:46655173A>T	ENST00000253255.5	-	1	4046	c.4047T>A	c.(4045-4047)gaT>gaA	p.D1349E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1349					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCAGACGCTCATCTGGATGGG	0.388																																							uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4045-4047)GAT>GAA		receptor for egg jelly-like protein precursor							87.0	84.0	85.0					22																	46655173		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655173A>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4047T>A	22.37:g.46655173A>T	ENSP00000253255:p.Asp1349Glu						p.D1349E	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4047	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1349			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4047T>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	9.107	1.005715	0.19199	.	.	ENSG00000130943	ENST00000253255	T	0.33216	1.42	5.09	-6.85	0.01681	.	0.574845	0.16302	N	0.220421	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.25719	0.132	B	0.17098	0.017	T	0.40421	-0.9564	10	0.06891	T	0.86	-15.0351	5.8769	0.18834	0.1325:0.4461:0.3336:0.0877	.	1349	Q9NTG1	PKDRE_HUMAN	E	1349	ENSP00000253255:D1349E	ENSP00000253255:D1349E	D	-	3	2	PKDREJ	45033837	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-1.449000	0.02392	-0.956000	0.03631	0.418000	0.28097	GAT		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	60	0	0	0	0.000602	0	5	60				
SHANK3	85358	broad.mit.edu	37	22	51160861	51160861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:51160861G>T	ENST00000414786.2	+	21	4785	c.4558G>T	c.(4558-4560)Gct>Tct	p.A1520S	SHANK3_ENST00000445220.2_Missense_Mutation_p.A1536S|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1550S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1534					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CATCGCAGCAGCTCGGTGAGC	0.637																																							uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(4648-4650)GCT>TCT		SH3 and multiple ankyrin repeat domains 3							21.0	24.0	23.0					22																	51160861		1911	3743	5654	SO:0001583	missense	85358							g.chr22:51160861G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4558G>T	22.37:g.51160861G>T	ENSP00000464552:p.Ala1520Ser					SHANK3_uc003bnf.1_Missense_Mutation_p.A997S|SHANK3_uc010hbg.1_Missense_Mutation_p.A732S	p.A1550S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4648	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1550					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4648G>T		.	.	.	.	.	.	.	.	.	.	G	12.13	1.845961	0.32606	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.31769	1.48;1.48	5.7	5.7	0.88788	.	0.450059	0.21760	N	0.069523	T	0.40222	0.1108	L	0.29908	0.895	0.37323	D	0.909647	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.78314	0.987;0.978;0.991	T	0.07252	-1.0782	10	0.05833	T	0.94	.	17.321	0.87236	0.0:0.0:1.0:0.0	.	1534;1535;1550	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1550;1536	ENSP00000442518:A1550S;ENSP00000446078:A1536S	ENSP00000442518:A1550S	A	+	1	0	SHANK3	49507727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.025000	0.93694	2.702000	0.92279	0.563000	0.77884	GCT		0.637	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		14	12	1	0	1.99824e-07	0.00499	2.86873e-07	14	12				
SLC6A11	6538	broad.mit.edu	37	3	10916777	10916777	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:10916777C>A	ENST00000254488.2	+	6	954	c.888C>A	c.(886-888)ccC>ccA	p.P296P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	296					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTCCGACCCCCAGGTAAGAG	0.592																																							uc003bvz.2		NA																	0				skin(3)|ovary(1)	4						c.(886-888)CCC>CCA		solute carrier family 6 (neurotransmitter							67.0	63.0	65.0					3																	10916777		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10916777C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.888C>A	3.37:g.10916777C>A							p.P296P	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	6	922	+			296					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.888C>A	CCDS2602.1																																																																																				0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		29	9	1	0	7.26314e-15	0.007291	1.23063e-14	29	9				
FBLN2	2199	broad.mit.edu	37	3	13612322	13612322	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:13612322C>T	ENST00000295760.7	+	2	536	c.467C>T	c.(466-468)cCc>cTc	p.P156L	FBLN2_ENST00000492059.1_Missense_Mutation_p.P156L|FBLN2_ENST00000404922.3_Missense_Mutation_p.P156L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P182L	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	156	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACCTGCCGCCCTGCCGGGCC	0.687																																							uc011avb.1		NA																	0				ovary(1)	1						c.(466-468)CCC>CTC		fibulin 2 isoform b precursor							12.0	15.0	14.0					3																	13612322		2126	4220	6346	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612322C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.467C>T	3.37:g.13612322C>T	ENSP00000295760:p.Pro156Leu					FBLN2_uc011auz.1_Missense_Mutation_p.P182L|FBLN2_uc011ava.1_Missense_Mutation_p.P156L|FBLN2_uc011avc.1_Missense_Mutation_p.P156L	p.P156L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	592	+			156			Subdomain NA (Cys-rich).|N.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.467C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	8.523	0.869262	0.17322	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000465610;ENST00000492059	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;1.49;-0.21	5.25	4.29	0.51040	.	0.877238	0.09859	N	0.746459	T	0.57080	0.2029	L	0.42245	1.32	0.09310	N	1	B;P;B	0.38504	0.384;0.634;0.01	B;B;B	0.34242	0.055;0.178;0.015	T	0.53337	-0.8453	10	0.62326	D	0.03	.	9.2471	0.37532	0.1781:0.7402:0.0:0.0816	.	156;156;182	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	L	182;156;156;156;156	ENSP00000445705:P182L;ENSP00000384169:P156L;ENSP00000295760:P156L;ENSP00000420164:P156L;ENSP00000420042:P156L	ENSP00000295760:P156L	P	+	2	0	FBLN2	13587322	0.002000	0.14202	0.411000	0.26484	0.080000	0.17528	1.616000	0.36933	2.474000	0.83562	0.558000	0.71614	CCC		0.687	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		7	2	0	0	0	0.004482	0	7	2				
ZFYVE20	64145	broad.mit.edu	37	3	15124018	15124018	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:15124018G>A	ENST00000253699.3	-	9	1309	c.696C>T	c.(694-696)agC>agT	p.S232S	ZFYVE20_ENST00000476527.2_Silent_p.S232S|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	232	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTCATGCTGCTGATGCTGC	0.607																																							uc003bzm.1		NA																	0				skin(2)	2						c.(694-696)AGC>AGT		FYVE-finger-containing Rab5 effector protein							149.0	112.0	125.0					3																	15124018		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124018G>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.696C>T	3.37:g.15124018G>A						ZFYVE20_uc010hek.1_Silent_p.S232S|ZFYVE20_uc011avn.1_Intron	p.S232S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			9	1310	-			232			FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.696C>T	CCDS2623.1																																																																																				0.607	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		32	13	0	0	0	0.002836	0	32	13				
SUSD5	26032	broad.mit.edu	37	3	33194435	33194435	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:33194435C>A	ENST00000309558.3	-	5	2106	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	563					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCCGTCCCCCACACACGACT	0.607																																							uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1687-1689)GTG>GTT		sushi domain containing 5 precursor							57.0	62.0	60.0					3																	33194435		2195	4288	6483	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194435C>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1689G>T	3.37:g.33194435C>A							p.V563V	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	2107	-			563			Extracellular (Potential).			Silent	SNP	ENST00000309558.3	37	c.1689G>T	CCDS46787.1																																																																																				0.607	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		8	14	1	0	1.12685e-05	0.004482	1.52204e-05	8	14				
ARPP21	10777	broad.mit.edu	37	3	35778760	35778760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:35778760C>A	ENST00000187397.4	+	16	2006	c.1550C>A	c.(1549-1551)tCc>tAc	p.S517Y	ARPP21_ENST00000458225.1_Missense_Mutation_p.S483Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S463Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.S463Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S483Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	517	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGGGGCAGTCCCAACAGCAG	0.637																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1549-1551)TCC>TAC		cyclic AMP-regulated phosphoprotein, 21 kD							40.0	46.0	44.0					3																	35778760		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778760C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1550C>A	3.37:g.35778760C>A	ENSP00000187397:p.Ser517Tyr					ARPP21_uc003cga.2_Missense_Mutation_p.S463Y|ARPP21_uc011axy.1_Missense_Mutation_p.S483Y|ARPP21_uc003cgf.2_Missense_Mutation_p.S318Y|ARPP21_uc003cgg.2_Missense_Mutation_p.S5Y	p.S517Y	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1814	+			517			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1550C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889222	0.52014	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.91	5.91	0.95273	.	0.571881	0.19006	N	0.125219	T	0.44244	0.1284	L	0.44542	1.39	0.36925	D	0.891615	P;B;P;P	0.48503	0.911;0.003;0.661;0.911	P;B;B;P	0.46940	0.532;0.004;0.309;0.532	T	0.32613	-0.9900	10	0.19147	T	0.46	-0.1339	18.4858	0.90828	0.0:1.0:0.0:0.0	.	483;5;517;463	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	Y	483;463;463;517;483	ENSP00000414351:S483Y;ENSP00000337792:S463Y;ENSP00000405276:S463Y;ENSP00000187397:S517Y;ENSP00000412326:S483Y	ENSP00000187397:S517Y	S	+	2	0	ARPP21	35753764	1.000000	0.71417	0.873000	0.34254	0.681000	0.39784	3.178000	0.50879	2.808000	0.96608	0.655000	0.94253	TCC		0.637	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		19	17	1	0	8.00594e-06	0.007413	1.08749e-05	19	17				
CCR3	1232	broad.mit.edu	37	3	46307665	46307665	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:46307665C>G	ENST00000357422.2	+	4	1559	c.1016C>G	c.(1015-1017)aCc>aGc	p.T339S	CCR3_ENST00000395940.2_Missense_Mutation_p.T339S|CCR3_ENST00000395942.2_Missense_Mutation_p.T339S|CCR3_ENST00000545097.1_Missense_Mutation_p.T360S|CCR3_ENST00000541018.1_Missense_Mutation_p.T339S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	339					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGGAAAGAACCAGCTCTGTC	0.507																																							uc003cpg.1		NA																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(1015-1017)ACC>AGC		CC chemokine receptor 3 isoform 1							65.0	59.0	61.0					3																	46307665		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307665C>G	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.1016C>G	3.37:g.46307665C>G	ENSP00000350003:p.Thr339Ser					CCR3_uc003cpi.1_Missense_Mutation_p.T339S|CCR3_uc003cpj.1_Missense_Mutation_p.T339S|CCR3_uc003cpk.1_Missense_Mutation_p.T360S|CCR3_uc010hjb.1_Missense_Mutation_p.T357S|CCR3_uc003cpl.1_Missense_Mutation_p.T372S	p.T339S	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1559	+			339			Cytoplasmic (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.1016C>G	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	7.937	0.741858	0.15642	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.66460	-0.17;-0.21;-0.17;-0.17;-0.17	5.45	0.831	0.18860	.	26.017600	0.00718	N	0.000869	T	0.53400	0.1794	N	0.19112	0.55	0.09310	N	1	B;B	0.18461	0.028;0.016	B;B	0.22753	0.041;0.01	T	0.36089	-0.9762	10	0.25751	T	0.34	.	8.4881	0.33084	0.0:0.5025:0.3739:0.1236	.	360;339	F5GWL6;P51677	.;CCR3_HUMAN	S	339;360;339;339;339	ENSP00000350003:T339S;ENSP00000441600:T360S;ENSP00000440097:T339S;ENSP00000379271:T339S;ENSP00000379273:T339S	ENSP00000350003:T339S	T	+	2	0	CCR3	46282669	0.000000	0.05858	0.358000	0.25811	0.559000	0.35586	-0.755000	0.04782	0.224000	0.20940	0.655000	0.94253	ACC		0.507	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			11	14	0	0	0	0.008291	0	11	14				
QARS	5859	broad.mit.edu	37	3	49135913	49135913	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49135913C>A	ENST00000306125.6	-	21	2294	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	QARS_ENST00000414533.1_Splice_Site_p.G642C|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	653					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCACTGGGGCCCTGGAAGTGG	0.572																																							uc003cvx.2		NA																	0				ovary(1)	1						c.(1957-1959)GGC>TGC		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						45.0	51.0	49.0					3																	49135913		2203	4300	6503	SO:0001630	splice_region_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49135913C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1957-1G>T	3.37:g.49135913C>A						QARS_uc011bcc.1_Missense_Mutation_p.G106C|QARS_uc011bcd.1_Missense_Mutation_p.G508C|QARS_uc003cvy.2_Missense_Mutation_p.G508C|QARS_uc011bce.1_Missense_Mutation_p.G642C	p.G653C	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	1962	-			653					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1957G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961900	0.53400	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.22945	1.93;1.93	5.66	4.6	0.57074	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.194515	0.51477	D	0.000099	T	0.41719	0.1171	L	0.54323	1.7	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.58660	0.843;0.843	T	0.28586	-1.0039	10	0.87932	D	0	-8.3421	15.204	0.73162	0.0:0.9201:0.0:0.0799	.	642;653	B4DWJ2;P47897	.;SYQ_HUMAN	C	173;653;642	ENSP00000307567:G653C;ENSP00000390015:G642C	ENSP00000307567:G653C	G	-	1	0	QARS	49110917	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	3.521000	0.53472	2.670000	0.90874	0.561000	0.74099	GGC		0.572	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	Missense_Mutation	30	11	1	0	2.08457e-15	0.002096	3.60198e-15	30	11				
QARS	5859	broad.mit.edu	37	3	49137018	49137018	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49137018T>A	ENST00000306125.6	-	16	1788	c.1451A>T	c.(1450-1452)tAt>tTt	p.Y484F	QARS_ENST00000414533.1_Missense_Mutation_p.Y473F|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	484					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GAGGCGGCCATACTCCCACTG	0.552																																							uc003cvx.2		NA																	0				ovary(1)	1						c.(1450-1452)TAT>TTT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						80.0	79.0	79.0					3																	49137018		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137018T>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1451A>T	3.37:g.49137018T>A	ENSP00000307567:p.Tyr484Phe					QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.Y339F|QARS_uc003cvy.2_Missense_Mutation_p.Y339F|QARS_uc011bce.1_Missense_Mutation_p.Y473F	p.Y484F	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1456	-			484					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1451A>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827634	0.32329	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.22336	1.96;2.03;2.03	5.86	5.86	0.93980	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.20807	0.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08146	-1.0736	10	0.23891	T	0.37	-14.8886	16.255	0.82510	0.0:0.0:0.0:1.0	.	473;484	B4DWJ2;P47897	.;SYQ_HUMAN	F	4;484;473	ENSP00000396326:Y4F;ENSP00000307567:Y484F;ENSP00000390015:Y473F	ENSP00000307567:Y484F	Y	-	2	0	QARS	49112022	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.469000	0.80959	2.240000	0.73641	0.533000	0.62120	TAT		0.552	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		35	5	0	0	0	0.002836	0	35	5				
USP19	10869	broad.mit.edu	37	3	49149022	49149022	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49149022C>G	ENST00000398888.2	-	20	3137	c.2819G>C	c.(2818-2820)aGc>aCc	p.S940T	USP19_ENST00000434032.2_Missense_Mutation_p.S1041T|USP19_ENST00000417901.1_Missense_Mutation_p.S1043T|USP19_ENST00000398896.1_Missense_Mutation_p.S748T|USP19_ENST00000398892.3_Missense_Mutation_p.S980T|USP19_ENST00000453664.1_Missense_Mutation_p.S1031T|USP19_ENST00000398898.2_Missense_Mutation_p.S980T	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	940	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCACTGGTGCTGGGCACAGG	0.642																																							uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2818-2820)AGC>ACC		ubiquitin thioesterase 19							27.0	29.0	28.0					3																	49149022		1884	4112	5996	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49149022C>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2819G>C	3.37:g.49149022C>G	ENSP00000381863:p.Ser940Thr					USP19_uc003cwa.2_Missense_Mutation_p.S748T|USP19_uc003cvz.3_Missense_Mutation_p.S1043T|USP19_uc011bcg.1_Missense_Mutation_p.S1031T|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.S698T|USP19_uc011bch.1_Missense_Mutation_p.S1041T	p.S940T	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	2980	-			940			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2819G>C	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334092	0.41297	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.21191	2.05;2.04;2.14;2.13;2.02;2.13;2.11	6.04	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.688850	0.15824	N	0.242828	T	0.16557	0.0398	N	0.16743	0.435	0.27336	N	0.956648	B;P;B;P;B	0.40681	0.194;0.727;0.159;0.625;0.051	B;B;B;B;B	0.43301	0.122;0.254;0.084;0.415;0.018	T	0.06881	-1.0802	10	0.62326	D	0.03	-20.7327	10.3922	0.44179	0.0:0.7941:0.1329:0.073	.	1041;1031;940;980;748	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	T	748;980;1043;1031;980;940;1041	ENSP00000381870:S748T;ENSP00000381872:S980T;ENSP00000395260:S1043T;ENSP00000400090:S1031T;ENSP00000381867:S980T;ENSP00000381863:S940T;ENSP00000401197:S1041T	ENSP00000381863:S940T	S	-	2	0	USP19	49124026	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	0.259000	0.18405	2.890000	0.99128	0.650000	0.86243	AGC		0.642	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		26	4	0	0	0	0.003954	0	26	4				
DNAH1	25981	broad.mit.edu	37	3	52428648	52428648	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:52428648G>T	ENST00000420323.2	+	67	11055	c.10794G>T	c.(10792-10794)cgG>cgT	p.R3598R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3663					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAATTCCGGGTCATCTTCG	0.577																																							uc011bef.1		NA																	0				large_intestine(3)	3						c.(10792-10794)CGG>CGT		dynein, axonemal, heavy chain 1							74.0	79.0	77.0					3																	52428648		1962	4142	6104	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52428648G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10794G>T	3.37:g.52428648G>T						DNAH1_uc003ddv.2_Silent_p.R456R	p.R3598R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	67	11055	+			3663					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10794G>T	CCDS46842.1																																																																																				0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		26	3	1	0	4.87955e-14	0.005443	8.0542e-14	26	3				
ITIH1	3697	broad.mit.edu	37	3	52812520	52812520	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:52812520C>A	ENST00000273283.2	+	3	327	c.303C>A	c.(301-303)gcC>gcA	p.A101A	ITIH1_ENST00000542827.1_Silent_p.A101A|ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	101	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGACTTTGCCGTGTGCGTGC	0.547																																							uc003dfs.2		NA																	0				ovary(3)	3						c.(301-303)GCC>GCA		inter-alpha (globulin) inhibitor H1							121.0	109.0	113.0					3																	52812520		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812520C>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.303C>A	3.37:g.52812520C>A						ITIH1_uc010hmn.1_RNA	p.A101A	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	3	327	+			101			VIT.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.303C>A	CCDS2864.1																																																																																				0.547	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		34	8	1	0	8.73648e-17	0.004289	1.54867e-16	34	8				
FRMD4B	23150	broad.mit.edu	37	3	69230592	69230592	+	Missense_Mutation	SNP	T	T	G	rs148389023	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:69230592T>G	ENST00000398540.3	-	21	2392	c.2309A>C	c.(2308-2310)aAt>aCt	p.N770T	FRMD4B_ENST00000478263.1_Missense_Mutation_p.N422T|FRMD4B_ENST00000542259.1_Missense_Mutation_p.N716T	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	770					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AGTAGAAACATTCTGTTTCTT	0.493													T|||	14	0.00279553	0.0008	0.0014	5008	,	,		20086	0.0		0.0119	False		,,,				2504	0.0						uc003dnv.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2308-2310)AAT>ACT		FERM domain containing 4B		T	THR/ASN	11,3811		0,11,1900	96.0	91.0	92.0		2309	2.3	0.1	3	dbSNP_134	92	132,8090		4,124,3983	yes	missense	FRMD4B	NM_015123.1	65	4,135,5883	GG,GT,TT		1.6054,0.2878,1.1873	benign	770/1035	69230592	143,11901	1911	4111	6022	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230592T>G	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2309A>C	3.37:g.69230592T>G	ENSP00000381549:p.Asn770Thr					FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.N422T|FRMD4B_uc011bga.1_Missense_Mutation_p.N614T	p.N770T	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	21	2599	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	770					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.2309A>C	CCDS46863.1	12	0.005494505494505495	0	0.0	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	T	9.899	1.206405	0.22205	0.002878	0.016054	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83673	-1.75;-1.75	5.98	2.34	0.29019	.	0.429185	0.27168	N	0.020613	T	0.58538	0.2129	L	0.43152	1.355	0.09310	N	1	B;B	0.27853	0.191;0.007	B;B	0.23275	0.045;0.013	T	0.50634	-0.8805	10	0.23302	T	0.38	-11.6879	9.403	0.38444	0.0:0.2037:0.0:0.7963	.	614;770	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	T	770;716;422	ENSP00000381549:N770T;ENSP00000437658:N716T	ENSP00000381549:N770T	N	-	2	0	FRMD4B	69313282	0.012000	0.17670	0.078000	0.20375	0.870000	0.49936	1.544000	0.36158	0.174000	0.19809	-0.342000	0.07992	AAT		0.493	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			3	50	0	0	0	0.004672	0	3	50				
CADM2	253559	broad.mit.edu	37	3	85961612	85961612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:85961612G>T	ENST00000407528.2	+	5	654	c.592G>T	c.(592-594)Gga>Tga	p.G198*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.G207*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.G200*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	198	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAGTGATGATGGAGTGGCGGT	0.453																																							uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(592-594)GGA>TGA		immunoglobulin superfamily, member 4D							98.0	78.0	85.0					3																	85961612		2203	4300	6503	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961612G>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.592G>T	3.37:g.85961612G>T	ENSP00000384575:p.Gly198*					CADM2_uc003dqk.2_Nonsense_Mutation_p.G207*|CADM2_uc003dql.2_Nonsense_Mutation_p.G200*	p.G198*	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1218	+		Lung NSC(201;0.0148)	198			Ig-like C2-type 1.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.592G>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.339281	0.97485	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	.	.	.	X	207;198;200	.	ENSP00000373200:G207X	G	+	1	0	CADM2	86044302	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GGA		0.453	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		20	7	1	0	1.87028e-06	0.001882	2.59566e-06	20	7				
GABRR3	200959	broad.mit.edu	37	3	97744491	97744491	+	RNA	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:97744491C>G	ENST00000472788.1	-	0	159					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						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)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CGCTTTGGTACTGTCATCTTT	0.388																																							uc011bgr.1		NA																	0					0						c.(157-159)AGT>ACT		gamma-aminobutyric acid (GABA) receptor, rho 3							169.0	157.0	161.0					3																	97744491		1833	4092	5925			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744491C>G	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744491C>G							p.S53T	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			2	158	-			53			Extracellular (Potential).		Q9UIV9	Missense_Mutation	SNP	ENST00000472788.1	37	c.158G>C																																																																																					0.388	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			16	8	0	0	0	0.004007	0	16	8				
GPR128	84873	broad.mit.edu	37	3	100374024	100374024	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:100374024G>T	ENST00000273352.3	+	12	1993	c.1725G>T	c.(1723-1725)tgG>tgT	p.W575C	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Splice_Site_p.W280C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	575					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAATTGGATGGGGTAAGTGTT	0.408																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(1723-1725)TGG>TGT		G protein-coupled receptor 128 precursor							57.0	57.0	57.0					3																	100374024		2203	4300	6503	SO:0001630	splice_region_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100374024G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1726+1G>T	3.37:g.100374024G>T						GPR128_uc011bhc.1_Missense_Mutation_p.W276C|GPR128_uc003dud.2_Missense_Mutation_p.W98C	p.W575C	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1993	+			575			Helical; Name=4; (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1725G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306681	0.60305	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.62788	0.0;0.0	5.72	4.85	0.62838	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000010	D	0.84515	0.5489	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88420	0.3028	10	0.87932	D	0	.	12.0326	0.53406	0.0807:0.0:0.9193:0.0	.	280;575	E9PHI0;Q96K78	.;GP128_HUMAN	C	575;280	ENSP00000273352:W575C;ENSP00000419788:W280C	ENSP00000273352:W575C	W	+	3	0	GPR128	101856714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.488000	0.60300	1.416000	0.47057	0.591000	0.81541	TGG		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		Missense_Mutation	54	10	1	0	2.73381e-35	0.00361	5.72428e-35	54	10				
CBLB	868	broad.mit.edu	37	3	105412398	105412398	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:105412398T>C	ENST00000264122.4	-	13	2315	c.1994A>G	c.(1993-1995)tAt>tGt	p.Y665C	CBLB_ENST00000394027.3_Missense_Mutation_p.Y687C|CBLB_ENST00000405772.1_Missense_Mutation_p.Y665C|CBLB_ENST00000403724.1_Missense_Mutation_p.Y665C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	665	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGAACATCATATTCTTCACT	0.418			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1993-1995)TAT>TGT		Cas-Br-M (murine) ecotropic retroviral							128.0	122.0	124.0					3																	105412398		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105412398T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1994A>G	3.37:g.105412398T>C	ENSP00000264122:p.Tyr665Cys					CBLB_uc011bhi.1_Missense_Mutation_p.Y687C|CBLB_uc003dwd.1_Missense_Mutation_p.Y665C|CBLB_uc003dwe.1_Missense_Mutation_p.Y665C	p.Y665C	NM_170662	NP_733762	Q13191	CBLB_HUMAN			13	2316	-			665	Y->F: Slightly inhibits interaction with CRKL. Abolishes interaction with CRKL; when associated with F-709.		Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1994A>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473781	0.63737	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D;D	0.85411	-1.95;-1.97;-1.91;-1.95;-1.98	5.45	5.45	0.79879	.	0.128392	0.53938	D	0.000044	D	0.91362	0.7275	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	D	0.92330	0.5873	10	0.87932	D	0	-17.4922	15.5058	0.75739	0.0:0.0:0.0:1.0	.	687;665;665	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	C	48;665;687;665;665	ENSP00000377598:Y48C;ENSP00000264122:Y665C;ENSP00000377595:Y687C;ENSP00000384816:Y665C;ENSP00000384938:Y665C	ENSP00000264122:Y665C	Y	-	2	0	CBLB	106895088	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	5.901000	0.69861	2.072000	0.62099	0.482000	0.46254	TAT		0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		33	6	0	0	0	0.005524	0	33	6				
SIDT1	54847	broad.mit.edu	37	3	113325904	113325904	+	Missense_Mutation	SNP	G	G	C	rs572675919	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:113325904G>C	ENST00000264852.4	+	15	2147	c.1421G>C	c.(1420-1422)gGc>gCc	p.G474A	SIDT1_ENST00000393830.3_Missense_Mutation_p.G474A|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	474					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.G474A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATGTCACTGGCAACCAGGAC	0.512																																							uc003eak.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1420-1422)GGC>GCC		SID1 transmembrane family, member 1 precursor							157.0	125.0	136.0					3																	113325904		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113325904G>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1421G>C	3.37:g.113325904G>C	ENSP00000264852:p.Gly474Ala					SIDT1_uc011bif.1_Intron|SIDT1_uc003eaj.1_Missense_Mutation_p.G474A|SIDT1_uc011big.1_Missense_Mutation_p.G227A|SIDT1_uc011bih.1_Intron|SIDT1_uc011bii.1_Intron	p.G474A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			15	2072	+			474			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1421G>C	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206037	0.95033	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.31769	1.48;1.48	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.58337	0.2115	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58869	-0.7560	10	0.66056	D	0.02	-20.2859	19.8411	0.96685	0.0:0.0:1.0:0.0	.	474;474	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	A	474	ENSP00000264852:G474A;ENSP00000377416:G474A	ENSP00000264852:G474A	G	+	2	0	SIDT1	114808594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.789000	0.99068	2.683000	0.91414	0.655000	0.94253	GGC		0.512	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		22	23	0	0	0	0.00632	0	22	23				
B4GALT4	8702	broad.mit.edu	37	3	118937606	118937606	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:118937606C>G	ENST00000483209.1	-	6	1329	c.688G>C	c.(688-690)Gga>Cga	p.G230R	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G230R|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G230R|B4GALT4_ENST00000467604.1_Missense_Mutation_p.G230R			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	230					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CCAAAATATCCACTGTAACGT	0.473																																							uc003ecg.2		NA																	0					0						c.(688-690)GGA>CGA		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						123.0	114.0	117.0					3																	118937606		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118937606C>G	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.688G>C	3.37:g.118937606C>G	ENSP00000420161:p.Gly230Arg					B4GALT4_uc003ece.1_Missense_Mutation_p.G230R|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.G230R|B4GALT4_uc003eci.2_Missense_Mutation_p.G230R|B4GALT4_uc011biy.1_RNA	p.G230R	NM_212543	NP_997708	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	1329	-			230			Lumenal (Potential).		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.688G>C	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757321	0.49468	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.92	4.01	0.46588	.	0.099070	0.64402	D	0.000001	T	0.75946	0.3919	L	0.41492	1.28	0.50039	D	0.999848	B	0.27316	0.175	B	0.33196	0.159	T	0.71045	-0.4706	10	0.32370	T	0.25	-10.0517	9.1847	0.37163	0.1459:0.7773:0.0:0.0767	.	230	O60513	B4GT4_HUMAN	R	230	ENSP00000420161:G230R;ENSP00000417226:G230R;ENSP00000352144:G230R;ENSP00000377360:G230R	ENSP00000352144:G230R	G	-	1	0	B4GALT4	120420296	0.992000	0.36948	0.960000	0.40013	0.994000	0.84299	3.146000	0.50631	1.487000	0.48415	0.543000	0.68304	GGA		0.473	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		6	98	0	0	0	0.00308	0	6	98				
STXBP5L	9515	broad.mit.edu	37	3	120871407	120871407	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:120871407G>T	ENST00000273666.6	+	8	1024	c.753G>T	c.(751-753)gaG>gaT	p.E251D	STXBP5L_ENST00000492541.1_Splice_Site_p.E251D|STXBP5L_ENST00000497029.1_Splice_Site_p.E251D|STXBP5L_ENST00000471454.1_Splice_Site_p.E251D|STXBP5L_ENST00000472879.1_Splice_Site_p.E251D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	251					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTATGATGAGGTAAGTGATT	0.353																																							uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(751-753)GAG>GAT		syntaxin binding protein 5-like							112.0	112.0	112.0					3																	120871407		1860	4097	5957	SO:0001630	splice_region_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871407G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.753+1G>T	3.37:g.120871407G>T						STXBP5L_uc011bji.1_Missense_Mutation_p.E251D	p.E251D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	8	893	+			251					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.753G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996050	0.54147	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.52983	0.64;1.64;0.64;0.64;1.64;1.64	5.38	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.57021	-0.7882	10	0.35671	T	0.21	-17.6975	9.8406	0.40996	0.1663:0.0:0.8336:0.0	.	251;251	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	D	251	ENSP00000273666:E251D;ENSP00000420019:E251D;ENSP00000419627:E251D;ENSP00000420287:E251D;ENSP00000420666:E251D;ENSP00000420167:E251D	ENSP00000273666:E251D	E	+	3	2	STXBP5L	122354097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.743000	0.68655	1.246000	0.43901	0.655000	0.94253	GAG		0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Missense_Mutation	40	7	1	0	1.22674e-20	0.00874	2.32499e-20	40	7				
COL6A6	131873	broad.mit.edu	37	3	130282295	130282295	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:130282295G>A	ENST00000358511.6	+	2	479	c.448G>A	c.(448-450)Gca>Aca	p.A150T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A150T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	150	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGGAAGAGGCATCAAAGGC	0.493																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(448-450)GCA>ACA		collagen type VI alpha 6 precursor							52.0	52.0	52.0					3																	130282295		1916	4124	6040	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282295G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.448G>A	3.37:g.130282295G>A	ENSP00000351310:p.Ala150Thr						p.A150T	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	479	+			150			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.448G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248069	0.59103	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.21	2.01	0.26516	von Willebrand factor, type A (3);	0.220705	0.31760	N	0.007120	D	0.82944	0.5147	M	0.85197	2.74	0.34338	D	0.688409	P	0.36354	0.549	B	0.39617	0.305	D	0.87496	0.2430	10	0.45353	T	0.12	.	15.4175	0.74983	0.0:0.662:0.338:0.0	.	150	A6NMZ7	CO6A6_HUMAN	T	150	ENSP00000351310:A150T;ENSP00000399236:A150T	ENSP00000351310:A150T	A	+	1	0	COL6A6	131764985	0.698000	0.27777	0.939000	0.37840	0.561000	0.35649	2.208000	0.42797	0.648000	0.30732	0.561000	0.74099	GCA		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		28	10	0	0	0	0.00632	0	28	10				
CPNE4	131034	broad.mit.edu	37	3	131442447	131442447	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:131442447C>G	ENST00000512055.1	-	7	2329	c.203G>C	c.(202-204)cGc>cCc	p.R68P	CPNE4_ENST00000511604.1_Missense_Mutation_p.R68P|CPNE4_ENST00000429747.1_Missense_Mutation_p.R68P|CPNE4_ENST00000502818.1_Missense_Mutation_p.R86P|CPNE4_ENST00000512332.1_Missense_Mutation_p.R86P			Q96A23	CPNE4_HUMAN	copine IV	68	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.R68H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TATGCAGGTGCGAATCACCTC	0.428																																							uc003eok.2		NA																	1	Substitution - Missense(1)		endometrium(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(202-204)CGC>CCC		copine IV							104.0	105.0	104.0					3																	131442447		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131442447C>G	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.203G>C	3.37:g.131442447C>G	ENSP00000421705:p.Arg68Pro					CPNE4_uc011blq.1_Missense_Mutation_p.R86P|CPNE4_uc003eol.2_Missense_Mutation_p.R86P|CPNE4_uc003eom.2_Missense_Mutation_p.R68P	p.R68P	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			3	638	-			68			C2 1.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.203G>C	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834346	0.50951	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;1.01	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	L	0.45352	1.415	0.58432	D	0.999996	B;B	0.24576	0.021;0.106	B;B	0.25405	0.06;0.06	T	0.61525	-0.7045	10	0.56958	D	0.05	-12.7178	19.1819	0.93627	0.0:1.0:0.0:0.0	.	86;68	Q96A23-2;Q96A23	.;CPNE4_HUMAN	P	68;68;86;68;86;68;68;68	ENSP00000421705:R68P;ENSP00000411904:R68P;ENSP00000424853:R86P;ENSP00000423811:R68P;ENSP00000421646:R86P;ENSP00000425506:R68P;ENSP00000427561:R68P;ENSP00000421394:R68P	ENSP00000411904:R68P	R	-	2	0	CPNE4	132925137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.777000	0.62361	2.542000	0.85734	0.555000	0.69702	CGC		0.428	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		30	92	0	0	0	0.002096	0	30	92				
ACAD11	84129	broad.mit.edu	37	3	132360964	132360964	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:132360964C>T	ENST00000264990.6	-	4	1360	c.389G>A	c.(388-390)cGt>cAt	p.R130H	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R130H|ACAD11_ENST00000545291.1_De_novo_Start_OutOfFrame|ACAD11_ENST00000481970.2_Missense_Mutation_p.R130H	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	130					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTTAAATCACGGAAGATTCG	0.363																																							uc003eov.3		NA																	0				ovary(1)	1						c.(388-390)CGT>CAT		putative acyl-CoA dehydrogenase							104.0	98.0	100.0					3																	132360964		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132360964C>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.389G>A	3.37:g.132360964C>T	ENSP00000264990:p.Arg130His					ACAD11_uc003eoy.2_Missense_Mutation_p.R130H	p.R130H	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			4	769	-			130					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.389G>A	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003373	0.54254	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.30448	1.53;1.53;1.53	5.49	4.62	0.57501	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.53738	0.1815	M	0.78223	2.4	0.80722	D	1	P;D	0.71674	0.771;0.998	B;P	0.62649	0.249;0.905	T	0.60110	-0.7327	9	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.929:0.0:0.071	.	130;130	D6RDI8;Q709F0	.;ACD11_HUMAN	H	130	ENSP00000347636:R130H;ENSP00000264990:R130H;ENSP00000420907:R130H	ENSP00000264990:R130H	R	-	2	0	ACAD11	133843654	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.169000	0.50809	1.449000	0.47699	0.563000	0.77884	CGT		0.363	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		25	79	0	0	0	0.00632	0	25	79				
MRPS22	56945	broad.mit.edu	37	3	139065733	139065733	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:139065733C>G	ENST00000495075.1	+	4	618	c.186C>G	c.(184-186)agC>agG	p.S62R	RP11-219D15.3_ENST00000608472.1_RNA|MRPS22_ENST00000465056.1_Missense_Mutation_p.S61R|MRPS22_ENST00000310776.4_Missense_Mutation_p.S62R|MRPS22_ENST00000478464.1_Missense_Mutation_p.S21R			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	62						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AATCTGGTAGCCCAGAGACCA	0.363																																							uc003etb.2		NA																	0				ovary(2)|skin(1)	3						c.(184-186)AGC>AGG		mitochondrial ribosomal protein S22							71.0	69.0	70.0					3																	139065733		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139065733C>G	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.186C>G	3.37:g.139065733C>G	ENSP00000418008:p.Ser62Arg					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.S61R|MRPS22_uc003ete.2_Missense_Mutation_p.S21R	p.S62R	NM_020191	NP_064576	P82650	RT22_HUMAN			2	194	+			62					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.186C>G	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.898018	0.17686	.	.	ENSG00000175110	ENST00000495075;ENST00000495225;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;T;D	0.83591	-1.68;-1.68;-1.68;-1.1;-1.74	5.42	-0.0107	0.13995	.	0.813120	0.11699	N	0.538175	T	0.76227	0.3958	L	0.55481	1.735	0.09310	N	1	B;B;B	0.30439	0.017;0.279;0.183	B;B;B	0.33521	0.009;0.165;0.08	T	0.63355	-0.6656	10	0.41790	T	0.15	0.4349	4.6158	0.12427	0.2503:0.4368:0.2429:0.07	.	21;61;62	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	R	62;32;62;61;67;21	ENSP00000418008:S62R;ENSP00000310785:S62R;ENSP00000418233:S61R;ENSP00000419920:S67R;ENSP00000419303:S21R	ENSP00000310785:S62R	S	+	3	2	MRPS22	140548423	0.001000	0.12720	0.010000	0.14722	0.749000	0.42624	0.706000	0.25690	-0.316000	0.08690	-0.293000	0.09583	AGC		0.363	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		103	8	0	0	0	0.00361	0	103	8				
ATR	545	broad.mit.edu	37	3	142272147	142272147	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:142272147T>C	ENST00000350721.4	-	13	2848	c.2727A>G	c.(2725-2727)acA>acG	p.T909T	ATR_ENST00000383101.3_Silent_p.T845T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	909					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTAATTTCTGTGTATGCTG	0.413								Other conserved DNA damage response genes																															uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2725-2727)ACA>ACG	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							78.0	78.0	78.0					3																	142272147		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142272147T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2727A>G	3.37:g.142272147T>C							p.T909T	NM_001184	NP_001175	Q13535	ATR_HUMAN			13	2849	-			909					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.2727A>G	CCDS3124.1																																																																																				0.413	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		115	14	0	0	0	0.00361	0	115	14				
MED12L	116931	broad.mit.edu	37	3	150840728	150840728	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:150840728A>T	ENST00000474524.1	+	3	401	c.363A>T	c.(361-363)gcA>gcT	p.A121A	MED12L_ENST00000422248.2_Silent_p.A121A|MED12L_ENST00000273432.4_Silent_p.A121A|MED12L_ENST00000309237.4_Silent_p.A121A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	121						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGACTTAGCAGGAAATAAGC	0.343																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(361-363)GCA>GCT		mediator of RNA polymerase II transcription,							67.0	67.0	67.0					3																	150840728		2202	4300	6502	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150840728A>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.363A>T	3.37:g.150840728A>T						MED12L_uc011bnz.1_Silent_p.A121A|MED12L_uc003eym.1_Silent_p.A121A|MED12L_uc003eyn.2_Silent_p.A121A|MED12L_uc003eyo.2_Silent_p.A121A	p.A121A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	401	+			121					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.363A>T	CCDS33876.1																																																																																				0.343	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		27	9	0	0	0	0.008361	0	27	9				
PHC3	80012	broad.mit.edu	37	3	169846735	169846735	+	Missense_Mutation	SNP	T	T	C	rs113283659	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:169846735T>C	ENST00000494943.1	-	8	1557	c.1489A>G	c.(1489-1491)Atc>Gtc	p.I497V	PHC3_ENST00000467570.1_Missense_Mutation_p.I456V|PHC3_ENST00000495893.2_Missense_Mutation_p.I509V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	497	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAATTGGGATTGGAGAGGAC	0.512													T|||	3	0.000599042	0.0	0.0014	5008	,	,		22179	0.0		0.002	False		,,,				2504	0.0						uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1489-1491)ATC>GTC		polyhomeotic like 3		T	VAL/ILE	8,4064		0,8,2028	102.0	104.0	104.0		1525	4.9	1.0	3	dbSNP_132	104	48,8336		0,48,4144	yes	missense	PHC3	NM_024947.3	29	0,56,6172	CC,CT,TT		0.5725,0.1965,0.4496	benign	509/996	169846735	56,12400	2036	4192	6228	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846735T>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1489A>G	3.37:g.169846735T>C	ENSP00000420271:p.Ile497Val					PHC3_uc003fgl.2_Missense_Mutation_p.I509V|PHC3_uc011bpq.1_Missense_Mutation_p.I456V|PHC3_uc011bpr.1_Missense_Mutation_p.I423V	p.I497V	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1553	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		497			Pro-rich.|Gln-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1489A>G		.	.	.	.	.	.	.	.	.	.	T	6.651	0.488542	0.12641	0.001965	0.005725	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.29917	1.55;1.55	4.9	4.9	0.64082	.	0.085656	0.48767	D	0.000165	T	0.17365	0.0417	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.32968	0.047;0.392;0.003;0.006	B;B;B;B	0.28638	0.037;0.092;0.006;0.023	T	0.03473	-1.1033	10	0.26408	T	0.33	-10.4125	14.6811	0.69017	0.0:0.0:0.0:1.0	.	456;456;497;509	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	V	497;509;456	ENSP00000420271:I497V;ENSP00000420294:I509V	ENSP00000419089:I456V	I	-	1	0	PHC3	171329429	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.120000	0.31271	2.039000	0.60335	0.460000	0.39030	ATC		0.512	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	57	0	0	0	0.004672	0	3	57				
PRKCI	5584	broad.mit.edu	37	3	169985720	169985720	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:169985720G>T	ENST00000295797.4	+	5	687	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	128	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CTACCGTAGAGGTGCACGCCG	0.363																																							uc003fgs.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(382-384)GGT>TGT		protein kinase C, iota							63.0	58.0	60.0					3																	169985720		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169985720G>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.382G>T	3.37:g.169985720G>T	ENSP00000295797:p.Gly128Cys						p.G128C	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		5	620	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		128			Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.382G>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545506	0.86022	.	.	ENSG00000163558	ENST00000295797	D	0.84660	-1.88	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92665	0.6145	9	.	.	.	.	18.2456	0.89984	0.0:0.0:1.0:0.0	.	128	P41743	KPCI_HUMAN	C	128	ENSP00000295797:G128C	.	G	+	1	0	PRKCI	171468414	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.728000	0.98792	2.486000	0.83907	0.467000	0.42956	GGT		0.363	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		27	6	1	0	2.61193e-14	0.001786	4.36384e-14	27	6				
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	C	A	rs549390160		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:172607409C>A	ENST00000351008.3	-	11	1844	c.1661G>T	c.(1660-1662)cGa>cTa	p.R554L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTTTGCCTTCGAGCAGTTCT	0.378																																							uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1660-1662)CGA>CTA		spermatogenesis associated 16							182.0	171.0	175.0					3																	172607409		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172607409C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1661G>T	3.37:g.172607409C>A	ENSP00000341765:p.Arg554Leu						p.R554L	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		11	1819	-	Ovarian(172;0.00319)|Breast(254;0.197)		554					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1661G>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241295	0.79912	.	.	ENSG00000144962	ENST00000351008	T	0.19532	2.14	5.78	5.78	0.91487	.	0.110360	0.38959	N	0.001520	T	0.31420	0.0796	L	0.27053	0.805	0.30996	N	0.720881	D	0.69078	0.997	D	0.67231	0.95	T	0.13469	-1.0508	10	0.72032	D	0.01	-11.1639	12.813	0.57649	0.0:0.9227:0.0:0.0773	.	554	Q9BXB7	SPT16_HUMAN	L	554	ENSP00000341765:R554L	ENSP00000341765:R554L	R	-	2	0	SPATA16	174090103	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	2.325000	0.43840	2.894000	0.99253	0.591000	0.81541	CGA		0.378	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		93	23	1	0	5.95195e-44	0.00361	1.27694e-43	93	23				
CHRD	8646	broad.mit.edu	37	3	184106393	184106393	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:184106393C>A	ENST00000204604.1	+	21	2819	c.2573C>A	c.(2572-2574)cCc>cAc	p.P858H	CHRD_ENST00000450923.1_Missense_Mutation_p.P858H|CHRD_ENST00000348986.3_Missense_Mutation_p.P818H|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.P400H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	858					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCCACCCCCAGCTGGGG	0.607																																							uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.(2572-2574)CCC>CAC		chordin precursor							51.0	61.0	57.0					3																	184106393		2197	4294	6491	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184106393C>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2573C>A	3.37:g.184106393C>A	ENSP00000204604:p.Pro858His					CHRD_uc003fow.2_Missense_Mutation_p.P488H|CHRD_uc003fox.2_Missense_Mutation_p.P858H|CHRD_uc003foy.2_Missense_Mutation_p.P488H|CHRD_uc010hyc.2_Missense_Mutation_p.P448H|CHRD_uc011brr.1_Missense_Mutation_p.P400H	p.P858H	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	2819	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		858					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2573C>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122858	0.37436	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.48836	2.69;2.46;2.47;0.8	4.93	4.06	0.47325	.	0.458792	0.21403	N	0.075120	T	0.47875	0.1469	L	0.34521	1.04	0.09310	N	0.999995	B;P;B;P	0.50528	0.351;0.936;0.251;0.895	B;P;B;P	0.55999	0.213;0.789;0.17;0.547	T	0.30592	-0.9973	10	0.52906	T	0.07	-4.3532	7.813	0.29243	0.0:0.811:0.0:0.189	.	400;818;858;858	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	858;858;818;400	ENSP00000204604:P858H;ENSP00000408972:P858H;ENSP00000334036:P818H;ENSP00000442948:P400H	ENSP00000204604:P858H	P	+	2	0	CHRD	185589087	0.743000	0.28239	0.900000	0.35374	0.344000	0.29017	1.887000	0.39698	1.070000	0.40811	-0.137000	0.14449	CCC		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		62	18	1	0	3.05417e-18	0.00361	5.5896e-18	62	18				
IGF2BP2	10644	broad.mit.edu	37	3	185434484	185434484	+	Intron	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:185434484C>T	ENST00000382199.2	-	3	335				IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000346192.3_Intron|C3orf65_ENST00000296270.1_Missense_Mutation_p.A106V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTACTCAGGGCCATGGTGGTG	0.547																																							uc003fpr.2		NA																	0					0						c.(316-318)GCC>GTC		RecName: Full=Putative uncharacterized protein C3orf65;							82.0	87.0	86.0					3																	185434484		2107	4212	6319	SO:0001627	intron_variant	646600							g.chr3:185434484C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.240-18349G>A	3.37:g.185434484C>T						IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_Intron	p.A106V	NR_027317				OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	493	+	all_cancers(143;1.5e-10)|Ovarian(172;0.0386)							A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.317C>T	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	6.343	0.431458	0.12045	.	.	ENSG00000163915	ENST00000296270	.	.	.	3.1	-0.824	0.10812	.	0.269330	0.19903	N	0.103468	T	0.25827	0.0629	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.16630	-1.0396	8	0.87932	D	0	.	2.7566	0.05294	0.2051:0.4311:0.0:0.3639	.	106	Q96M15	CC065_HUMAN	V	106	.	ENSP00000296270:A106V	A	+	2	0	C3orf65	186917178	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.438000	0.02416	-0.202000	0.10268	-0.838000	0.03060	GCC		0.547	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		20	28	0	0	0	0.001523	0	20	28				
RFC4	5984	broad.mit.edu	37	3	186522453	186522453	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:186522453G>C	ENST00000392481.2	-	2	331	c.50C>G	c.(49-51)aCc>aGc	p.T17S	RFC4_ENST00000296273.2_Missense_Mutation_p.T17S|RFC4_ENST00000433496.1_Missense_Mutation_p.T17S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	17					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCGATCCTTGGTCAGCGGGGG	0.458																																							uc003fqz.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(49-51)ACC>AGC		replication factor C 4							150.0	136.0	141.0					3																	186522453		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186522453G>C		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.50C>G	3.37:g.186522453G>C	ENSP00000376272:p.Thr17Ser					RFC4_uc011bsc.1_Missense_Mutation_p.T17S|RFC4_uc011bsd.1_Missense_Mutation_p.T17S	p.T17S	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	2	273	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		17					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.50C>G	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409573	0.11812	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497;ENST00000411792	T;T;T;T;T;T;T	0.41758	2.33;2.33;2.33;1.0;0.99;0.99;0.99	5.47	4.59	0.56863	.	0.831259	0.11456	N	0.562265	T	0.22085	0.0532	N	0.14661	0.345	0.22866	N	0.998639	B;B	0.17038	0.004;0.02	B;B	0.14023	0.001;0.01	T	0.27673	-1.0067	10	0.05959	T	0.93	-0.6074	7.7056	0.28648	0.0866:0.1668:0.7466:0.0	.	17;17	B4DM41;P35249	.;RFC4_HUMAN	S	17	ENSP00000399769:T17S;ENSP00000376272:T17S;ENSP00000296273:T17S;ENSP00000411300:T17S;ENSP00000413065:T17S;ENSP00000407982:T17S;ENSP00000415099:T17S	ENSP00000296273:T17S	T	-	2	0	RFC4	188005147	0.994000	0.37717	0.870000	0.34147	0.437000	0.31866	2.871000	0.48459	1.286000	0.44565	-0.302000	0.09304	ACC		0.458	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		79	25	0	0	0	0.00361	0	79	25				
DLG1	1739	broad.mit.edu	37	3	196842896	196842896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:196842896C>A	ENST00000419354.1	-	14	1730	c.1444G>T	c.(1444-1446)Gga>Tga	p.G482*	DLG1_ENST00000452595.1_Nonsense_Mutation_p.G366*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.G431*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.G449*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.G431*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.G449*|DLG1_ENST00000443183.1_Nonsense_Mutation_p.G366*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.G482*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.G449*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.G482*			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	482	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTTCTCCTCCTACAATGTTG	0.373																																							uc003fxo.3		NA																	0				ovary(3)	3						c.(1444-1446)GGA>TGA		discs, large homolog 1 isoform 1							112.0	115.0	114.0					3																	196842896		2203	4300	6503	SO:0001587	stop_gained	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196842896C>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1444G>T	3.37:g.196842896C>A	ENSP00000407531:p.Gly482*					DLG1_uc011bub.1_Nonsense_Mutation_p.G366*|DLG1_uc011buc.1_Nonsense_Mutation_p.G366*|DLG1_uc011bud.1_Nonsense_Mutation_p.G165*|DLG1_uc003fxn.3_Nonsense_Mutation_p.G482*|DLG1_uc011bue.1_Nonsense_Mutation_p.G449*|DLG1_uc010ial.2_Nonsense_Mutation_p.G482*|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.G449*|DLG1_uc010ian.2_Nonsense_Mutation_p.G349*	p.G482*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	14	1634	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	482			PDZ 3.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Nonsense_Mutation	SNP	ENST00000419354.1	37	c.1444G>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	38	7.263834	0.98171	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	.	.	.	X	482;482;449;482;431;482;366;431;482;366;449;449	.	ENSP00000321087:G431X	G	-	1	0	DLG1	198327293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.662000	0.90505	0.591000	0.81541	GGA		0.373	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		108	15	1	0	1.81142e-54	0.00361	3.93021e-54	108	15				
ZNF595	152687	broad.mit.edu	37	4	59439	59439	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:59439G>T	ENST00000509152.2	+	2	305	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.L40L			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L40L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACAGGAACCTGGTCTCCCTGG	0.443																																							uc003fzv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)CTG>CTT		zinc finger protein 595							372.0	404.0	393.0					4																	59439		2203	4298	6501	SO:0001819	synonymous_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59439G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.120G>T	4.37:g.59439G>T						ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.L40L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.L40L	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	276	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	40						Silent	SNP	ENST00000509152.2	37	c.120G>T																																																																																					0.443	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		31	423	1	0	9.04072e-19	0.003271	1.66412e-18	31	423				
BOD1L1	259282	broad.mit.edu	37	4	13601180	13601180	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:13601180T>C	ENST00000040738.5	-	10	7479	c.7344A>G	c.(7342-7344)ggA>ggG	p.G2448G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2448						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTCTTTCTGTCCTCTTCCTG	0.483											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(7342-7344)GGA>GGG		biorientation of chromosomes in cell division							177.0	159.0	165.0					4																	13601180		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601180T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7344A>G	4.37:g.13601180T>C			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	BOD1L_uc010idr.1_Silent_p.G1785G	p.G2448G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7461	-			2448					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7344A>G	CCDS3411.2																																																																																				0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		17	33	0	0	0	0.007413	0	17	33				
ARAP2	116984	broad.mit.edu	37	4	36161118	36161118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:36161118C>A	ENST00000303965.4	-	14	2941	c.2452G>T	c.(2452-2454)Gct>Tct	p.A818S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	818					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTACAGCAGCACATAGAGCC	0.413																																							uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2452-2454)GCT>TCT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							65.0	65.0	65.0					4																	36161118		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36161118C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2452G>T	4.37:g.36161118C>A	ENSP00000302895:p.Ala818Ser						p.A818S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			14	2790	-			818					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.2452G>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258838	0.59321	.	.	ENSG00000047365	ENST00000303965	T	0.08282	3.11	6.08	5.22	0.72569	.	0.116276	0.64402	N	0.000020	T	0.21921	0.0528	L	0.50333	1.59	0.37521	D	0.917527	D	0.67145	0.996	P	0.61070	0.883	T	0.03221	-1.1059	10	0.87932	D	0	.	16.5751	0.84634	0.1315:0.8685:0.0:0.0	.	818	Q8WZ64	ARAP2_HUMAN	S	818	ENSP00000302895:A818S	ENSP00000302895:A818S	A	-	1	0	ARAP2	35837513	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.680000	0.54641	1.542000	0.49330	0.591000	0.81541	GCT		0.413	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		29	11	1	0	5.60225e-13	0.001786	9.10603e-13	29	11				
PDGFRA	5156	broad.mit.edu	37	4	55140718	55140718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:55140718G>T	ENST00000257290.5	+	11	1910	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	527					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V527M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAACTCACGGTGGCTGCTGC	0.478			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		endometrium(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1579-1581)GTG>TTG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						176.0	159.0	165.0					4																	55140718		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140718G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1579G>T	4.37:g.55140718G>T	ENSP00000257290:p.Val527Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V421L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	p.V527L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1910	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		527			Helical; (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1579G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411355	0.62399	.	.	ENSG00000134853	ENST00000257290	T	0.75154	-0.91	6.07	6.07	0.98685	.	0.000000	0.29522	U	0.011903	T	0.72036	0.3411	L	0.51853	1.615	0.80722	D	1	P;B	0.35944	0.529;0.073	B;B	0.42798	0.398;0.042	T	0.65508	-0.6151	10	0.06494	T	0.89	.	16.8564	0.86007	0.0:0.1281:0.8719:0.0	.	527;527	P16234-3;P16234	.;PGFRA_HUMAN	L	527	ENSP00000257290:V527L	ENSP00000257290:V527L	V	+	1	0	PDGFRA	54835475	1.000000	0.71417	0.972000	0.41901	0.656000	0.38851	7.466000	0.80914	2.885000	0.99019	0.655000	0.94253	GTG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		53	10	1	0	1.0442e-30	0.00361	2.1489e-30	53	10				
LPHN3	23284	broad.mit.edu	37	4	62598529	62598529	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:62598529C>A	ENST00000514591.1	+	7	781	c.452C>A	c.(451-453)tCc>tAc	p.S151Y	LPHN3_ENST00000514996.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.S151Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGTTTGAGTCCGACCACCAA	0.408																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(451-453)TCC>TAC		latrophilin 3 precursor							35.0	33.0	33.0					4																	62598529		1871	4101	5972	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598529C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.452C>A	4.37:g.62598529C>A	ENSP00000422533:p.Ser151Tyr					LPHN3_uc003hcq.3_Missense_Mutation_p.S151Y|LPHN3_uc010ihg.1_Missense_Mutation_p.S219Y|LPHN3_uc003hcs.1_5'UTR	p.S151Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	625	+			151			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.452C>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344006	0.61073	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.77	4.91	0.64330	.	0.059262	0.64402	N	0.000001	D	0.93265	0.7854	M	0.64080	1.96	0.50813	D	0.999897	D;D;B	0.76494	0.997;0.999;0.004	D;D;B	0.87578	0.996;0.998;0.003	D	0.93874	0.7165	10	0.87932	D	0	.	15.0562	0.71915	0.143:0.857:0.0:0.0	.	151;219;151	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Y	151;151;219;219;151;151;151;151;151;219;219;219;151;151;151;219;219;151	ENSP00000423388:S151Y;ENSP00000422533:S151Y;ENSP00000423787:S219Y;ENSP00000425033:S219Y;ENSP00000424120:S151Y;ENSP00000439831:S151Y;ENSP00000421476:S219Y;ENSP00000424030:S219Y;ENSP00000421372:S219Y;ENSP00000425201:S151Y;ENSP00000423434:S151Y;ENSP00000421627:S151Y;ENSP00000420931:S219Y;ENSP00000425884:S219Y;ENSP00000424258:S151Y	ENSP00000280009:S151Y	S	+	2	0	LPHN3	62281124	1.000000	0.71417	0.827000	0.32855	0.888000	0.51559	7.818000	0.86416	1.402000	0.46780	0.557000	0.71058	TCC		0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	3	1	0	0.00116845	0.001168	0.00148613	5	3				
TECRL	253017	broad.mit.edu	37	4	65165692	65165692	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:65165692C>A	ENST00000381210.3	-	8	884	c.774G>T	c.(772-774)ctG>ctT	p.L258L	TECRL_ENST00000507440.1_Splice_Site_p.L258L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	258					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGATACATACCAGAAAATTGA	0.299																																							uc003hcv.2		NA																	0					0						c.(772-774)CTG>CTT		steroid 5 alpha-reductase 2-like 2							115.0	127.0	123.0					4																	65165692		2203	4294	6497	SO:0001630	splice_region_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65165692C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.774+1G>T	4.37:g.65165692C>A							p.L258L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			8	883	-			258						Silent	SNP	ENST00000381210.3	37	c.774G>T	CCDS33990.1																																																																																				0.299	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	Silent	37	51	1	0	8.16277e-20	0.006999	1.52002e-19	37	51				
EPHA5	2044	broad.mit.edu	37	4	66509116	66509117	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:66509116_66509117CC>AT	ENST00000273854.3	-	2	810_811	c.210_211GG>AT	c.(208-213)atGGgg>atATgg	p.70_71MG>IW	EPHA5_ENST00000354839.4_Missense_Mutation_p.70_71MG>IW|EPHA5_ENST00000511294.1_Missense_Mutation_p.70_71MG>IW|EPHA5_ENST00000432638.2_Missense_Mutation_p.70_71MG>IW	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	70	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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						CCCAGGTCCCCCATGACAGTGC	0.322										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(208-213)ATGGGG>ATATGG		ephrin receptor EphA5 isoform a precursor																																				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.chr4:66509116_66509117CC>AT	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.210_211delinsAT	4.37:g.66509116_66509117delinsAT	ENSP00000273854:p.M70_G71delinsIW	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.1_2MG>IW|EPHA5_uc003hcz.2_Missense_Mutation_p.70_71MG>IW|EPHA5_uc011cah.1_Missense_Mutation_p.70_71MG>IW|EPHA5_uc011cai.1_Missense_Mutation_p.70_71MG>IW|EPHA5_uc003hda.2_Missense_Mutation_p.70_71MG>IW	p.70_71MG>IW	NM_004439	NP_004430	P54756	EPHA5_HUMAN			2	403_404	-			70_71			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	DNP	ENST00000273854.3	37	c.210_211GG>AT	CCDS3513.1																																																																																				0.322	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		34	13	0	0	0	0.004672	0	34	13				
SHROOM3	57619	broad.mit.edu	37	4	77700208	77700208	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:77700208C>T	ENST00000296043.6	+	11	6822	c.5869C>T	c.(5869-5871)Ccc>Tcc	p.P1957S	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1957	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGAGCCTGCCCTCAGATTT	0.562																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(5869-5871)CCC>TCC		shroom family member 3 protein							85.0	91.0	89.0					4																	77700208		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700208C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5869C>T	4.37:g.77700208C>T	ENSP00000296043:p.Pro1957Ser					SHROOM3_uc003hkg.2_Missense_Mutation_p.P1735S	p.P1957S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6822	+			1957			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5869C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	34	5.359575	0.95854	.	.	ENSG00000138771	ENST00000296043	T	0.25250	1.81	5.2	4.35	0.52113	Apx/shroom, ASD2 (1);	0.000000	0.64402	D	0.000001	T	0.51363	0.1670	M	0.73962	2.25	0.51767	D	0.999935	D	0.89917	1.0	D	0.85130	0.997	T	0.57435	-0.7812	10	0.66056	D	0.02	-12.9102	15.2062	0.73180	0.1417:0.8583:0.0:0.0	.	1957	Q8TF72	SHRM3_HUMAN	S	1957	ENSP00000296043:P1957S	ENSP00000296043:P1957S	P	+	1	0	SHROOM3	77919232	1.000000	0.71417	0.067000	0.19924	0.936000	0.57629	5.509000	0.67012	1.411000	0.46957	0.591000	0.81541	CCC		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		53	18	0	0	0	0.00361	0	53	18				
ARHGAP24	83478	broad.mit.edu	37	4	86921657	86921657	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:86921657G>A	ENST00000395184.1	+	10	2495	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E582K|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E584K|RP13-514E23.2_ENST00000610225.1_RNA	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	677					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTTGACTTTGGAAACAGAAAT	0.423																																							uc003hpk.2		NA																	0					0						c.(2029-2031)GAA>AAA		Rho GTPase activating protein 24 isoform 1							70.0	70.0	70.0					4																	86921657		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86921657G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2029G>A	4.37:g.86921657G>A	ENSP00000378611:p.Glu677Lys					ARHGAP24_uc003hpl.2_Missense_Mutation_p.E582K|ARHGAP24_uc010ikf.2_Missense_Mutation_p.E592K|ARHGAP24_uc003hpm.2_Missense_Mutation_p.E584K	p.E677K	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	10	2478	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	677			Potential.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.2029G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401219	0.42613	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.34521	1.04	0.80722	D	1	P;P;D	0.69078	0.922;0.669;0.997	P;B;D	0.75020	0.568;0.175;0.985	T	0.29731	-1.0002	10	0.10636	T	0.68	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	582;584;677	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	K	677;582;592;584	ENSP00000378611:E677K;ENSP00000378610:E582K;ENSP00000425589:E592K;ENSP00000264343:E584K	ENSP00000264343:E584K	E	+	1	0	ARHGAP24	87140681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.545000	0.73883	2.777000	0.95525	0.655000	0.94253	GAA		0.423	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		30	12	0	0	0	0.002096	0	30	12				
SNCA	6622	broad.mit.edu	37	4	90650401	90650401	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:90650401T>A	ENST00000394986.1	-	5	755	c.334A>T	c.(334-336)Att>Ttt	p.I112F	SNCA_ENST00000420646.2_Intron|RP11-115D19.1_ENST00000508021.1_RNA|SNCA_ENST00000508895.1_Missense_Mutation_p.I112F|SNCA_ENST00000394989.2_Missense_Mutation_p.I98F|SNCA_ENST00000506244.1_Missense_Mutation_p.I112F|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000505199.1_Missense_Mutation_p.I98F|SNCA_ENST00000394991.3_Missense_Mutation_p.I112F|SNCA_ENST00000336904.3_Missense_Mutation_p.I112F			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	112					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TCTTCCAGAATTCCTTCCTGT	0.373																																							uc003hsq.2		NA																	0					0						c.(334-336)ATT>TTT		alpha-synuclein isoform NACP140	Melatonin(DB01065)						81.0	83.0	83.0					4																	90650401		2203	4300	6503	SO:0001583	missense	6622				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	g.chr4:90650401T>A	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.334A>T	4.37:g.90650401T>A	ENSP00000378437:p.Ile112Phe					SNCA_uc010ikt.2_Missense_Mutation_p.I98F|SNCA_uc003hso.2_Intron|SNCA_uc003hsp.2_Missense_Mutation_p.I112F|SNCA_uc003hsr.2_Missense_Mutation_p.I112F|uc011cdr.1_5'Flank	p.I112F	NM_001146054	NP_001139526	P37840	SYUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	5	593	-		Hepatocellular(203;0.114)	112					A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	c.334A>T	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	T	3.670	-0.067796	0.07228	.	.	ENSG00000145335	ENST00000394989;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.11	2.94	0.34122	.	0.310958	0.29106	N	0.013124	T	0.65668	0.2713	N	0.08118	0	0.80722	D	1	B;B	0.18310	0.022;0.027	B;B	0.15870	0.014;0.007	T	0.60515	-0.7248	10	0.46703	T	0.11	-12.9211	10.1565	0.42825	0.0:0.0804:0.0:0.9196	.	98;112	P37840-3;P37840	.;SYUA_HUMAN	F	98;112;112;112;112;112;98	ENSP00000378440:I98F;ENSP00000378437:I112F;ENSP00000378442:I112F;ENSP00000338345:I112F;ENSP00000426955:I112F;ENSP00000422238:I112F;ENSP00000421485:I98F	ENSP00000338345:I112F	I	-	1	0	SNCA	90869424	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	2.401000	0.44513	0.924000	0.37069	0.533000	0.62120	ATT		0.373	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			25	7	0	0	0	0.007291	0	25	7				
MTTP	4547	broad.mit.edu	37	4	100521876	100521876	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:100521876C>T	ENST00000265517.5	+	9	1425	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	MTTP_ENST00000457717.1_Silent_p.L408L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.L435L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	408	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGAAGAACTCCTGAGAGCCCT	0.358																																							uc003hvc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1222-1224)CTG>TTG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						54.0	56.0	56.0					4																	100521876		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100521876C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1222C>T	4.37:g.100521876C>T						MTTP_uc011cej.1_Silent_p.L435L	p.L408L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	10	1478	+			408			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.1222C>T	CCDS3651.1																																																																																				0.358	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			20	30	0	0	0	0.001523	0	20	30				
TACR3	6870	broad.mit.edu	37	4	104512726	104512726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:104512726G>T	ENST00000304883.2	-	4	1143	c.1003C>A	c.(1003-1005)Cag>Aag	p.Q335K	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	335					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAGACCTGCTGGATGTATTTC	0.393																																							uc003hxe.1		NA																	0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1003-1005)CAG>AAG		tachykinin receptor 3							144.0	138.0	140.0					4																	104512726		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512726G>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1003C>A	4.37:g.104512726G>T	ENSP00000303325:p.Gln335Lys						p.Q335K	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1146	-		Hepatocellular(203;0.217)	335			Helical; Name=7; (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1003C>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055906	0.93793	.	.	ENSG00000169836	ENST00000304883	T	0.71222	-0.55	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82800	-0.0278	10	0.51188	T	0.08	.	18.1421	0.89643	0.0:0.0:1.0:0.0	.	335	P29371	NK3R_HUMAN	K	335	ENSP00000303325:Q335K	ENSP00000303325:Q335K	Q	-	1	0	TACR3	104732175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.593000	0.87608	0.655000	0.94253	CAG		0.393	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		40	19	1	0	8.01111e-26	0.002522	1.57431e-25	40	19				
EGF	1950	broad.mit.edu	37	4	110883141	110883141	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:110883141G>C	ENST00000265171.5	+	8	1757	c.1312G>C	c.(1312-1314)Ggt>Cgt	p.G438R	EGF_ENST00000503392.1_Splice_Site_p.G438R|EGF_ENST00000509793.1_Splice_Site_p.G396R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	438	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AACATGTAGCGGTGAGTTTAT	0.378																																							uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1312-1314)GGT>CGT		epidermal growth factor precursor	Sulindac(DB00605)						250.0	257.0	255.0					4																	110883141		2203	4300	6503	SO:0001630	splice_region_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110883141G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1312+1G>C	4.37:g.110883141G>C						EGF_uc011cfu.1_Missense_Mutation_p.G396R|EGF_uc011cfv.1_Missense_Mutation_p.G438R	p.G438R	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	8	1764	+		Hepatocellular(203;0.0893)	438			EGF-like 4.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1312G>C	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889372	0.72524	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87029	-2.2;-2.2;-2.2	5.22	5.22	0.72569	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.050431	0.85682	D	0.000000	D	0.92573	0.7641	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92692	0.6167	10	0.54805	T	0.06	.	18.4066	0.90538	0.0:0.0:1.0:0.0	.	438;396;438	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	R	396;438;438	ENSP00000424316:G396R;ENSP00000265171:G438R;ENSP00000421384:G438R	ENSP00000265171:G438R	G	+	1	0	EGF	111102590	1.000000	0.71417	0.985000	0.45067	0.549000	0.35272	7.490000	0.81461	2.436000	0.82500	0.655000	0.94253	GGT		0.378	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		Missense_Mutation	48	17	0	0	0	0.00361	0	48	17				
SLC10A7	84068	broad.mit.edu	37	4	147438231	147438231	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:147438231C>A	ENST00000507030.1	-	2	141	c.142G>T	c.(142-144)Gca>Tca	p.A48S	SLC10A7_ENST00000511374.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000394059.4_Missense_Mutation_p.A48S|SLC10A7_ENST00000264986.3_Missense_Mutation_p.A48S|SLC10A7_ENST00000432059.2_Missense_Mutation_p.A48S|SLC10A7_ENST00000502607.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.A48S|SLC10A7_ENST00000394062.3_Missense_Mutation_p.A48S			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	48					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AATATTGTTGCAACAGCAATG	0.338																																							uc010ioz.2		NA																	0					0						c.(142-144)GCA>TCA		solute carrier family 10 (sodium/bile acid							216.0	227.0	223.0					4																	147438231		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147438231C>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.142G>T	4.37:g.147438231C>A	ENSP00000421275:p.Ala48Ser					SLC10A7_uc003ikr.2_Missense_Mutation_p.A48S|SLC10A7_uc010ipa.2_Missense_Mutation_p.A48S|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.A48S|SLC10A7_uc003iku.3_RNA	p.A48S	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			2	396	-	all_hematologic(180;0.151)		48			Helical; (Potential).		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.142G>T	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	C	7.550	0.662428	0.14645	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000264986;ENST00000507030;ENST00000394062;ENST00000394059;ENST00000511374;ENST00000502607	.	.	.	5.47	4.54	0.55810	.	0.057397	0.64402	D	0.000001	T	0.24774	0.0601	N	0.02697	-0.525	0.40763	D	0.983025	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.0	T	0.16541	-1.0399	9	0.12103	T	0.63	-18.219	10.9777	0.47475	0.4156:0.5844:0.0:0.0	.	48;48;48;48	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	S	48	.	ENSP00000264986:A48S	A	-	1	0	SLC10A7	147657681	0.996000	0.38824	0.997000	0.53966	0.996000	0.88848	2.930000	0.48924	2.582000	0.87167	0.591000	0.81541	GCA		0.338	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		73	40	1	0	3.30373e-36	0.00361	6.94798e-36	73	40				
TLL1	7092	broad.mit.edu	37	4	166986864	166986864	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:166986864G>T	ENST00000061240.2	+	16	2684	c.2037G>T	c.(2035-2037)tgG>tgT	p.W679C	TLL1_ENST00000507499.1_Missense_Mutation_p.W702C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	679	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGAGATCTGGAGTGGTCTTT	0.373																																							uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2035-2037)TGG>TGT		tolloid-like 1 precursor							136.0	134.0	135.0					4																	166986864		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166986864G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2037G>T	4.37:g.166986864G>T	ENSP00000061240:p.Trp679Cys					TLL1_uc011cjn.1_Missense_Mutation_p.W702C|TLL1_uc011cjo.1_Missense_Mutation_p.W503C	p.W679C	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	16	2684	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	679			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2037G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647816	0.47258	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.28255	1.62;1.62	5.97	4.0	0.46444	CUB (5);	0.072732	0.56097	U	0.000026	T	0.43233	0.1238	M	0.68952	2.095	0.80722	D	1	D;D	0.55385	0.971;0.965	P;P	0.62298	0.9;0.855	T	0.27971	-1.0058	10	0.41790	T	0.15	.	4.808	0.13329	0.1941:0.3796:0.4263:0.0	.	702;679	E9PD25;O43897	.;TLL1_HUMAN	C	679;702	ENSP00000061240:W679C;ENSP00000426082:W702C	ENSP00000061240:W679C	W	+	3	0	TLL1	167206314	0.998000	0.40836	1.000000	0.80357	0.785000	0.44390	0.337000	0.19841	2.836000	0.97738	0.655000	0.94253	TGG		0.373	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			45	18	1	0	4.01344e-20	0.00361	7.51736e-20	45	18				
ENPP6	133121	broad.mit.edu	37	4	185012394	185012394	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:185012394G>A	ENST00000296741.2	-	8	1400	c.1259C>T	c.(1258-1260)aCt>aTt	p.T420I		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	420					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGCGGGGCAGTGCTGGCGCG	0.557																																							uc003iwc.2		NA																	0				central_nervous_system(1)	1						c.(1258-1260)ACT>ATT		ectonucleotide pyrophosphatase/phosphodiesterase							68.0	66.0	67.0					4																	185012394		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012394G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1259C>T	4.37:g.185012394G>A	ENSP00000296741:p.Thr420Ile						p.T420I	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1401	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	420			Helical; (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1259C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	8.434	0.849335	0.17034	.	.	ENSG00000164303	ENST00000296741	T	0.75589	-0.95	6.08	-0.627	0.11541	.	1.959200	0.01951	N	0.042653	T	0.43656	0.1257	N	0.02539	-0.55	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.40403	-0.9565	10	0.10377	T	0.69	-0.5262	0.6687	0.00855	0.371:0.1261:0.2691:0.2338	.	420	Q6UWR7	ENPP6_HUMAN	I	420	ENSP00000296741:T420I	ENSP00000296741:T420I	T	-	2	0	ENPP6	185249388	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.495000	0.22483	0.044000	0.15775	-0.293000	0.09583	ACT		0.557	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		5	22	0	0	0	0.001168	0	5	22				
TRIML2	205860	broad.mit.edu	37	4	189012681	189012681	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:189012681G>T	ENST00000512729.1	-	7	1384	c.1010C>A	c.(1009-1011)aCc>aAc	p.T337N	TRIML2_ENST00000326754.3_Missense_Mutation_p.T362N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	337	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGACATCTCGGTCACATTGTA	0.493																																							uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(1009-1011)ACC>AAC		tripartite motif family-like 2							156.0	165.0	162.0					4																	189012681		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012681G>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1010C>A	4.37:g.189012681G>T	ENSP00000422581:p.Thr337Asn					TRIML2_uc003izj.1_Missense_Mutation_p.T165N|TRIML2_uc003izk.1_Missense_Mutation_p.T145N|TRIML2_uc011cle.1_Missense_Mutation_p.T412N	p.T337N	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1046	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	337			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1010C>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326643	0.24080	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.68903	-0.36;-0.36	5.85	2.04	0.26737	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.414784	0.21058	N	0.080876	T	0.68769	0.3037	M	0.61703	1.905	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.59115	0.852;0.796	T	0.59327	-0.7475	10	0.59425	D	0.04	.	1.7267	0.02923	0.235:0.1385:0.4839:0.1426	.	362;337	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	N	337;362	ENSP00000422581:T337N;ENSP00000317498:T362N	ENSP00000317498:T362N	T	-	2	0	TRIML2	189249675	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.563000	0.23547	0.497000	0.27926	-0.768000	0.03414	ACC		0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		47	18	1	0	5.78141e-17	0.003214	1.02864e-16	47	18				
TRIML1	339976	broad.mit.edu	37	4	189068142	189068142	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:189068142C>A	ENST00000332517.3	+	6	1163	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	341	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGAGACACTACTGGGAGG	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1021-1023)CAC>CAA		tripartite motif family-like 1							83.0	80.0	81.0					4																	189068142		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068142C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1023C>A	4.37:g.189068142C>A	ENSP00000327738:p.His341Gln					TRIML1_uc003izn.1_Missense_Mutation_p.H65Q	p.H341Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1138	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	341			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1023C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.998680	0.54147	.	.	ENSG00000184108	ENST00000332517	T	0.69175	-0.38	4.92	2.28	0.28536	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000028	T	0.80813	0.4695	M	0.89214	3.015	0.34263	D	0.68016	D	0.89917	1.0	D	0.85130	0.997	T	0.83031	-0.0162	10	0.56958	D	0.05	-25.3552	7.0589	0.25115	0.0:0.6451:0.0:0.3549	.	341	Q8N9V2	TRIML_HUMAN	Q	341	ENSP00000327738:H341Q	ENSP00000327738:H341Q	H	+	3	2	TRIML1	189305136	0.328000	0.24687	1.000000	0.80357	0.760000	0.43138	0.018000	0.13422	0.390000	0.25115	0.550000	0.68814	CAC		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		22	13	1	0	5.26018e-13	0.001882	8.5791e-13	22	13				
PLEKHG4B	153478	broad.mit.edu	37	5	163501	163501	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:163501G>A	ENST00000283426.6	+	11	2296	c.2246G>A	c.(2245-2247)aGt>aAt	p.S749N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	749							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCATACTAGTGTCTTCAGC	0.567																																							uc003jak.2		NA																	0				skin(2)	2						c.(2245-2247)AGT>AAT		pleckstrin homology domain containing, family G							71.0	85.0	80.0					5																	163501		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163501G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2246G>A	5.37:g.163501G>A	ENSP00000283426:p.Ser749Asn						p.S749N	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2296	+			749						Missense_Mutation	SNP	ENST00000283426.6	37	c.2246G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	5.184	0.219557	0.09863	.	.	ENSG00000153404	ENST00000283426	T	0.32988	1.43	3.01	2.12	0.27331	.	.	.	.	.	T	0.16769	0.0403	N	0.14661	0.345	0.23923	N	0.996451	B	0.20671	0.047	B	0.19148	0.024	T	0.21484	-1.0244	9	0.44086	T	0.13	.	6.2046	0.20595	0.1536:0.0:0.8464:0.0	.	749	Q96PX9	PKH4B_HUMAN	N	749	ENSP00000283426:S749N	ENSP00000283426:S749N	S	+	2	0	PLEKHG4B	216501	1.000000	0.71417	0.057000	0.19452	0.003000	0.03518	4.400000	0.59709	0.253000	0.21552	-0.657000	0.03884	AGT		0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		43	167	0	0	0	0.002852	0	43	167				
TAS2R1	50834	broad.mit.edu	37	5	9629486	9629486	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:9629486C>G	ENST00000382492.2	-	1	977	c.659G>C	c.(658-660)aGg>aCg	p.R220T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	220					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGGTGCACCCCTGCCAGGAAC	0.493																																							uc003jem.1		NA																	0				ovary(3)	3						c.(658-660)AGG>ACG		taste receptor T2R1							52.0	60.0	57.0					5																	9629486		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629486C>G	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.659G>C	5.37:g.9629486C>G	ENSP00000371932:p.Arg220Thr						p.R220T	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	978	-			220			Cytoplasmic (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.659G>C	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	6.432	0.447757	0.12223	.	.	ENSG00000169777	ENST00000382492	T	0.00634	6.07	5.28	-2.29	0.06805	.	1.275860	0.05579	N	0.572489	T	0.00384	0.0012	N	0.04132	-0.27	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.43015	-0.9417	9	.	.	.	.	3.5662	0.07900	0.4701:0.189:0.2582:0.0828	.	220	Q9NYW7	TA2R1_HUMAN	T	220	ENSP00000371932:R220T	.	R	-	2	0	TAS2R1	9682486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.465000	0.06680	-0.359000	0.08150	-0.169000	0.13324	AGG		0.493	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			19	60	0	0	0	0.007413	0	19	60				
CTNND2	1501	broad.mit.edu	37	5	11023036	11023036	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:11023036G>C	ENST00000304623.8	-	17	3033	c.2844C>G	c.(2842-2844)aaC>aaG	p.N948K	CTNND2_ENST00000458100.2_Missense_Mutation_p.N515K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.N890K|CTNND2_ENST00000511377.1_Missense_Mutation_p.N857K|CTNND2_ENST00000503622.1_Missense_Mutation_p.N611K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	948					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGCAGTGTTGTTGCTGTTGT	0.498																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2842-2844)AAC>AAG		catenin (cadherin-associated protein), delta 2							216.0	163.0	181.0					5																	11023036		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11023036G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2844C>G	5.37:g.11023036G>C	ENSP00000307134:p.Asn948Lys					CTNND2_uc010itt.2_Missense_Mutation_p.N857K|CTNND2_uc011cmy.1_Missense_Mutation_p.N611K|CTNND2_uc011cmz.1_Missense_Mutation_p.N515K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.N540K	p.N948K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	2989	-			948					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2844C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434372	0.25813	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.64	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.096084	0.64402	D	0.000001	T	0.36826	0.0981	L	0.38175	1.15	0.58432	D	0.999998	P;P;P	0.37525	0.598;0.598;0.501	B;B;B	0.32211	0.142;0.142;0.039	T	0.18023	-1.0350	10	0.44086	T	0.13	-16.0007	14.3107	0.66415	0.0766:0.0:0.9234:0.0	.	611;540;948	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	948;890;857;43;515;611	ENSP00000307134:N948K;ENSP00000352661:N890K;ENSP00000426510:N857K;ENSP00000391155:N515K;ENSP00000426887:N611K	ENSP00000307134:N948K	N	-	3	2	CTNND2	11076036	1.000000	0.71417	0.817000	0.32601	0.250000	0.25880	6.686000	0.74548	1.205000	0.43262	0.655000	0.94253	AAC		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		13	89	0	0	0	0.00245	0	13	89				
TRIO	7204	broad.mit.edu	37	5	14378120	14378120	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:14378120G>T	ENST00000344204.4	+	20	3355		c.e20-1		TRIO_ENST00000537187.1_Splice_Site|TRIO_ENST00000509967.2_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTTTCTCTCAGATATCTTGAA	0.393																																							uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.e20-1		triple functional domain (PTPRF interacting)							72.0	69.0	70.0					5																	14378120		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14378120G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3332-1G>T	5.37:g.14378120G>T						TRIO_uc003jfg.2_Splice_Site|TRIO_uc011cna.1_Splice_Site_p.N1062_splice|TRIO_uc003jfh.1_Splice_Site_p.N760_splice	p.N1111_splice	NM_007118	NP_009049	O75962	TRIO_HUMAN			20	3338	+	Lung NSC(4;0.000742)							D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37	c.3332_splice	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825261	0.90955	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIO	14431120	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	.		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Intron	10	26	1	0	3.86212e-05	0.008291	5.12278e-05	10	26				
CDH18	1016	broad.mit.edu	37	5	19571701	19571701	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:19571701T>A	ENST00000507958.1	-	10	2230	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y	CDH18_ENST00000382275.1_Missense_Mutation_p.N414Y|CDH18_ENST00000511273.1_Missense_Mutation_p.N414Y|CDH18_ENST00000506372.1_Missense_Mutation_p.N414Y|CDH18_ENST00000274170.4_Missense_Mutation_p.N414Y|CDH18_ENST00000502796.1_Missense_Mutation_p.N414Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	414	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)			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)					ACTAAGCTGTTAGTACTGTCA	0.373																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1240-1242)AAC>TAC		cadherin 18, type 2 preproprotein							143.0	123.0	130.0					5																	19571701		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571701T>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.1240A>T	5.37:g.19571701T>A	ENSP00000425093:p.Asn414Tyr					CDH18_uc003jgd.2_Missense_Mutation_p.N414Y|CDH18_uc011cnm.1_Missense_Mutation_p.N414Y	p.N414Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1617	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		414			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1240A>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232682	0.79688	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.17	5.17	0.71159	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.91038	3.17	0.53005	D	0.999968	D;D	0.65815	0.995;0.98	D;D	0.68943	0.961;0.948	D	0.84407	0.0563	9	.	.	.	.	14.131	0.65253	0.0:0.0:0.0:1.0	.	414;414	B4DHG6;Q13634	.;CAD18_HUMAN	Y	414;414;414;414;414;414;360;414	ENSP00000371710:N414Y;ENSP00000425093:N414Y;ENSP00000274170:N414Y;ENSP00000424931:N414Y;ENSP00000422138:N414Y;ENSP00000427383:N360Y;ENSP00000425854:N414Y	.	N	-	1	0	CDH18	19607458	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	4.661000	0.61518	2.095000	0.63458	0.533000	0.62120	AAC		0.373	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		58	97	0	0	0	0.00361	0	58	97				
CDH12	1010	broad.mit.edu	37	5	21802377	21802377	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:21802377G>T	ENST00000382254.1	-	10	2241	c.1155C>A	c.(1153-1155)agC>agA	p.S385R	CDH12_ENST00000522262.1_Missense_Mutation_p.S345R|CDH12_ENST00000504376.2_Missense_Mutation_p.S385R|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	385	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						AGAGCGGCTTGCTGAAAACCG	0.547										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1153-1155)AGC>AGA		cadherin 12, type 2 preproprotein							96.0	72.0	80.0					5																	21802377		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.chr5:21802377G>T	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.1155C>A	5.37:g.21802377G>T	ENSP00000371689:p.Ser385Arg	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.S345R|CDH12_uc003jgk.2_Missense_Mutation_p.S385R	p.S385R	NM_004061	NP_004052	P55289	CAD12_HUMAN			7	1613	-			385			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1155C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129571	0.56721	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Cadherin (2);Cadherin-like (1);	0.078528	0.85682	D	0.000000	T	0.67021	0.2849	M	0.82433	2.59	0.53688	D	0.999976	P;P	0.50272	0.464;0.933	B;P	0.44860	0.374;0.462	T	0.67507	-0.5653	10	0.29301	T	0.29	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	345;385	B7Z2U6;P55289	.;CAD12_HUMAN	R	385;385;345	ENSP00000423577:S385R;ENSP00000371689:S385R;ENSP00000428786:S345R	ENSP00000371689:S385R	S	-	3	2	CDH12	21838134	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.901000	0.48695	2.765000	0.95021	0.655000	0.94253	AGC		0.547	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		12	45	1	0	1.61879e-10	0.001368	2.51608e-10	12	45				
PRDM9	56979	broad.mit.edu	37	5	23526943	23526943	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:23526943C>T	ENST00000296682.3	+	11	1928	c.1746C>T	c.(1744-1746)tgC>tgT	p.C582C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	582					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTATGTCTGCAGGGAGTGTG	0.597										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1744-1746)TGC>TGT		PR domain containing 9							53.0	59.0	57.0					5																	23526943		2184	4290	6474	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526943C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1746C>T	5.37:g.23526943C>T		HNSCC(3;0.000094)					p.C582C	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1928	+			582			C2H2-type 4.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1746C>T	CCDS43307.1																																																																																				0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		32	133	0	0	0	0.00623	0	32	133				
CDH9	1007	broad.mit.edu	37	5	26886084	26886084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:26886084C>A	ENST00000231021.4	-	10	1793	c.1621G>T	c.(1621-1623)Gat>Tat	p.D541Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	541	Cadherin 5. {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)	p.D541N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTTTATTATCTACAATGGTG	0.303																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1621-1623)GAT>TAT		cadherin 9, type 2 preproprotein							53.0	61.0	58.0					5																	26886084		2201	4294	6495	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886084C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1621G>T	5.37:g.26886084C>A	ENSP00000231021:p.Asp541Tyr					CDH9_uc011cnv.1_Missense_Mutation_p.D134Y	p.D541Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1790	-			541			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1621G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345289	0.82022	.	.	ENSG00000113100	ENST00000231021	T	0.51574	0.7	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.84245	0.0474	9	.	.	.	.	18.5403	0.91025	0.0:1.0:0.0:0.0	.	134;541	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Y	541	ENSP00000231021:D541Y	.	D	-	1	0	CDH9	26921841	1.000000	0.71417	0.991000	0.47740	0.913000	0.54294	4.894000	0.63206	2.733000	0.93635	0.467000	0.42956	GAT		0.303	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		50	96	1	0	3.31993e-32	0.00361	6.86166e-32	50	96				
ADAMTS12	81792	broad.mit.edu	37	5	33577051	33577051	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:33577051G>C	ENST00000504830.1	-	19	3415	c.3080C>G	c.(3079-3081)tCc>tGc	p.S1027C	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S942C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1027	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGGCCTGGATGTAGGTGG	0.527										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3079-3081)TCC>TGC		ADAM metallopeptidase with thrombospondin type 1							141.0	133.0	136.0					5																	33577051		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577051G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3080C>G	5.37:g.33577051G>C	ENSP00000422554:p.Ser1027Cys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S942C	p.S1027C	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3243	-			1027			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3080C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	9.069	0.996508	0.19043	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60299	0.21;0.2	5.15	3.34	0.38264	.	0.950629	0.08990	N	0.864554	T	0.52370	0.1730	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.52463	0.932;0.953	P;B	0.50378	0.639;0.43	T	0.39722	-0.9600	10	0.52906	T	0.07	.	6.2175	0.20663	0.158:0.0:0.694:0.148	.	942;1027	P58397-3;P58397	.;ATS12_HUMAN	C	1027;942	ENSP00000422554:S1027C;ENSP00000344847:S942C	ENSP00000344847:S942C	S	-	2	0	ADAMTS12	33612808	0.016000	0.18221	0.002000	0.10522	0.001000	0.01503	2.031000	0.41117	1.396000	0.46663	0.655000	0.94253	TCC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	85	0	0	0	0.008361	0	31	85				
ADAMTS12	81792	broad.mit.edu	37	5	33649767	33649767	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:33649767C>A	ENST00000504830.1	-	8	1561	c.1226G>T	c.(1225-1227)tGt>tTt	p.C409F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C409F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	409	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGGCTCACAGTCATTTTC	0.542										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1225-1227)TGT>TTT		ADAM metallopeptidase with thrombospondin type 1							156.0	134.0	142.0					5																	33649767		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649767C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1226G>T	5.37:g.33649767C>A	ENSP00000422554:p.Cys409Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C409F	p.C409F	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1389	-			409			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1226G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.585896	0.66105	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.85013	-1.93;-1.93	5.52	5.52	0.82312	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97279	0.9916	10	0.66056	D	0.02	.	19.4284	0.94754	0.0:1.0:0.0:0.0	.	409;409	P58397-3;P58397	.;ATS12_HUMAN	F	409	ENSP00000422554:C409F;ENSP00000344847:C409F	ENSP00000344847:C409F	C	-	2	0	ADAMTS12	33685524	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.702000	0.84576	2.596000	0.87737	0.549000	0.68633	TGT		0.542	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		19	63	1	0	2.27731e-05	0.001882	3.04594e-05	19	63				
TTC23L	153657	broad.mit.edu	37	5	34845695	34845695	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:34845695A>T	ENST00000505624.1	+	3	275	c.172A>T	c.(172-174)Aag>Tag	p.K58*	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	58										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGAGAAGGAGAAGGCCATAGA	0.433																																							uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(172-174)AAG>TAG		tetratricopeptide repeat domain 23-like							109.0	104.0	106.0					5																	34845695		1889	4104	5993	SO:0001587	stop_gained	153657						binding	g.chr5:34845695A>T		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.172A>T	5.37:g.34845695A>T	ENSP00000422188:p.Lys58*						p.K58*	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			3	275	+			58					Q6RGS4|Q8N7R3|Q96LJ2	Nonsense_Mutation	SNP	ENST00000505624.1	37	c.172A>T	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	A	8.635	0.894539	0.17613	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	.	.	.	4.18	-2.74	0.05932	.	1.965860	0.02243	N	0.065995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7412	4.2893	0.10870	0.4295:0.0:0.4028:0.1677	.	.	.	.	X	58	.	ENSP00000425242:K58X	K	+	1	0	TTC23L	34881452	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.202000	0.09451	-0.603000	0.05767	-1.992000	0.00449	AAG		0.433	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		15	62	0	0	0	0.00499	0	15	62				
IL7R	3575	broad.mit.edu	37	5	35867563	35867563	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:35867563T>C	ENST00000303115.3	+	3	506	c.377T>C	c.(376-378)aTa>aCa	p.I126T	IL7R_ENST00000506850.1_Missense_Mutation_p.I126T|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Missense_Mutation_p.I126T|IL7R_ENST00000511982.1_Missense_Mutation_p.I126T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	126					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTAACCACTATAGGTAAGAAG	0.353			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(376-378)ATA>ACA		interleukin 7 receptor precursor							67.0	68.0	67.0					5																	35867563		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35867563T>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.377T>C	5.37:g.35867563T>C	ENSP00000306157:p.Ile126Thr					IL7R_uc011coo.1_Missense_Mutation_p.I126T|IL7R_uc011cop.1_RNA	p.I126T	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	466	+	all_lung(31;0.00015)		126			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.377T>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867914	0.51588	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T	0.75704	-0.96;-0.96;-0.96;0.8	5.6	4.42	0.53409	.	0.046129	0.85682	D	0.000000	T	0.79505	0.4457	M	0.63843	1.955	0.43740	D	0.996239	B;D	0.69078	0.19;0.997	B;P	0.57425	0.052;0.82	T	0.79517	-0.1771	10	0.62326	D	0.03	-16.4738	9.7136	0.40260	0.0:0.0:0.1748:0.8252	.	126;126	D6RGV2;P16871	.;IL7RA_HUMAN	T	126	ENSP00000306157:I126T;ENSP00000345819:I126T;ENSP00000421207:I126T;ENSP00000425309:I126T	ENSP00000306157:I126T	I	+	2	0	IL7R	35903320	1.000000	0.71417	0.970000	0.41538	0.382000	0.30200	2.054000	0.41335	0.933000	0.37291	0.528000	0.53228	ATA		0.353	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			39	72	0	0	0	0.006999	0	39	72				
NIPBL	25836	broad.mit.edu	37	5	37007478	37007478	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:37007478A>T	ENST00000282516.8	+	18	4640	c.4141A>T	c.(4141-4143)Aga>Tga	p.R1381*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R1381*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1381					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCATAAGCAGAGAGTAATAGT	0.318																																							uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(4141-4143)AGA>TGA		delangin isoform A							71.0	68.0	69.0					5																	37007478		2203	4295	6498	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37007478A>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4141A>T	5.37:g.37007478A>T	ENSP00000282516:p.Arg1381*					NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1381*	p.R1381*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		18	4640	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1381					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.4141A>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	47	13.204257	0.99727	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.54	4.35	0.52113	.	0.051373	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5946	0.56461	0.8613:0.1387:0.0:0.0	.	.	.	.	X	1381	.	ENSP00000282516:R1381X	R	+	1	2	NIPBL	37043235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	0.896000	0.36366	0.528000	0.53228	AGA		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		17	47	0	0	0	0.00499	0	17	47				
GDNF	2668	broad.mit.edu	37	5	37815911	37815911	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:37815911A>G	ENST00000326524.2	-	3	677	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	GDNF_ENST00000381826.4_Silent_p.L151L|GDNF_ENST00000515058.1_Silent_p.L134L|GDNF_ENST00000427982.1_Silent_p.L177L|GDNF_ENST00000344622.4_Silent_p.L134L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	160					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTTTTTCAATATTTTGTCG	0.458																																							uc011cpi.1		NA																	0					0						c.(478-480)TTG>CTG		glial cell derived neurotrophic factor isoform 1							114.0	112.0	113.0					5																	37815911		2203	4300	6503	SO:0001819	synonymous_variant	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815911A>G		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.478T>C	5.37:g.37815911A>G						GDNF_uc011cpc.1_Silent_p.L82L|GDNF_uc011cpd.1_Silent_p.L108L|GDNF_uc011cpe.1_Silent_p.L134L|GDNF_uc011cpf.1_Silent_p.L134L|GDNF_uc011cpg.1_Silent_p.L177L|GDNF_uc011cph.1_Silent_p.L151L	p.L160L	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	678	-	all_lung(31;0.00118)		160					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	c.478T>C	CCDS3922.1																																																																																				0.458	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		52	135	0	0	0	0.00361	0	52	135				
CARD6	84674	broad.mit.edu	37	5	40853641	40853641	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:40853641C>G	ENST00000254691.5	+	3	2406	c.2207C>G	c.(2206-2208)aCc>aGc	p.T736S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	736					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						CTCTTTCCAACCAGAATTGGA	0.502																																							uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2206-2208)ACC>AGC		caspase recruitment domain family, member 6							178.0	189.0	185.0					5																	40853641		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853641C>G	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.2207C>G	5.37:g.40853641C>G	ENSP00000254691:p.Thr736Ser						p.T736S	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	2282	+			736					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2207C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154383	0.21371	.	.	ENSG00000132357	ENST00000254691	T	0.13420	2.59	4.58	1.81	0.25067	.	1.110990	0.06782	N	0.785460	T	0.09818	0.0241	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.38373	-0.9664	10	0.39692	T	0.17	0.3076	5.9237	0.19096	0.0:0.6624:0.0:0.3375	.	736	Q9BX69	CARD6_HUMAN	S	736	ENSP00000254691:T736S	ENSP00000254691:T736S	T	+	2	0	CARD6	40889398	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.018000	0.13422	0.183000	0.20059	0.561000	0.74099	ACC		0.502	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			182	198	0	0	0	0.00361	0	182	198				
MROH2B	133558	broad.mit.edu	37	5	41018863	41018863	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:41018863G>T	ENST00000399564.4	-	26	3053	c.2603C>A	c.(2602-2604)gCc>gAc	p.A868D	MROH2B_ENST00000506092.2_Missense_Mutation_p.A423D	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	868																	TTTTCCTAGGGCGTCCATGGA	0.453																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(2602-2604)GCC>GAC		HEAT repeat family member 7B2							123.0	119.0	120.0					5																	41018863		1927	4133	6060	SO:0001583	missense	133558						binding	g.chr5:41018863G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2603C>A	5.37:g.41018863G>T	ENSP00000382476:p.Ala868Asp					HEATR7B2_uc003jmi.3_Missense_Mutation_p.A423D	p.A868D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			26	3093	-			868					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2603C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625834	0.87560	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.15017	2.46;2.46	6.02	6.02	0.97574	Armadillo-type fold (1);	0.103247	0.43579	D	0.000542	T	0.42720	0.1215	M	0.72118	2.19	0.31929	N	0.612455	D	0.89917	1.0	D	0.91635	0.999	T	0.48703	-0.9012	10	0.62326	D	0.03	.	16.0408	0.80680	0.0:0.0:1.0:0.0	.	868	Q7Z745	HTRB2_HUMAN	D	423;573;868	ENSP00000441504:A423D;ENSP00000382476:A868D	ENSP00000296803:A573D	A	-	2	0	HEATR7B2	41054620	0.989000	0.36119	0.989000	0.46669	0.957000	0.61999	4.833000	0.62766	2.865000	0.98341	0.655000	0.94253	GCC		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		19	89	1	0	1.33834e-09	0.007413	2.0308e-09	19	89				
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	A	rs180790607		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:45303797C>A	ENST00000303230.4	-	6	1579	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.V508M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTACCCACGGCTCCTTCT	0.393																																							uc003jok.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1522-1524)GTG>TTG		hyperpolarization activated cyclic							114.0	112.0	112.0					5																	45303797		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303797C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1522G>T	5.37:g.45303797C>A	ENSP00000307342:p.Val508Leu						p.V508L	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1547	-			508			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1522G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888029	0.52014	.	.	ENSG00000164588	ENST00000303230	D	0.92495	-3.05	5.62	5.62	0.85841	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000014	D	0.85566	0.5726	N	0.10707	0.03	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.79465	-0.1792	10	0.54805	T	0.06	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	508	O60741	HCN1_HUMAN	L	508	ENSP00000307342:V508L	ENSP00000307342:V508L	V	-	1	0	HCN1	45339554	0.980000	0.34600	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.809000	0.96659	0.655000	0.94253	GTG		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		59	130	1	0	6.09941e-20	0.00361	1.14022e-19	59	130				
SKIV2L2	23517	broad.mit.edu	37	5	54649077	54649077	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:54649077G>C	ENST00000230640.5	+	14	1767	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCGCAAATTTGATGGGAAGGA	0.338																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	0				ovary(1)|skin(1)	2						c.(1513-1515)GAT>CAT		superkiller viralicidic activity 2-like 2							81.0	87.0	85.0					5																	54649077		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54649077G>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1513G>C	5.37:g.54649077G>C	ENSP00000230640:p.Asp505His					SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404H	p.D505H	NM_015360	NP_056175	P42285	SK2L2_HUMAN			14	1779	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	505			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1513G>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.72505	-0.66;-0.66	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89478	0.3748	10	0.87932	D	0	-12.2081	20.8598	0.99761	0.0:0.0:1.0:0.0	.	404;505	F5H7E2;P42285	.;SK2L2_HUMAN	H	505;404	ENSP00000230640:D505H;ENSP00000442583:D404H	ENSP00000230640:D505H	D	+	1	0	SKIV2L2	54684834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.489000	0.97949	2.937000	0.99478	0.650000	0.86243	GAT		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			42	9	0	0	0	0.002852	0	42	9				
FCHO2	115548	broad.mit.edu	37	5	72383470	72383470	+	Missense_Mutation	SNP	C	C	T	rs574187088	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:72383470C>T	ENST00000430046.2	+	25	2416	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	FCHO2_ENST00000341845.6_Missense_Mutation_p.T767M|FCHO2_ENST00000512348.1_Missense_Mutation_p.T734M	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	767	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGTAAACCCACGACACTTGCA	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		17613	0.0		0.001	False		,,,				2504	0.001						uc003kcl.2		NA																	0				ovary(1)	1						c.(2299-2301)ACG>ATG		FCH domain only 2 isoform a							98.0	94.0	95.0					5																	72383470		1829	4077	5906	SO:0001583	missense	115548							g.chr5:72383470C>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2300C>T	5.37:g.72383470C>T	ENSP00000393776:p.Thr767Met					FCHO2_uc011csl.1_Missense_Mutation_p.T734M|FCHO2_uc010izb.2_Missense_Mutation_p.T195M|FCHO2_uc011csn.1_Missense_Mutation_p.T195M	p.T767M	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	25	2416	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	767					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.2300C>T	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	7.334	0.619479	0.14129	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.44482	0.92;0.92;0.92	4.67	-0.382	0.12481	Muniscin C-terminal mu homology domain (1);	0.519145	0.19326	N	0.117015	T	0.19725	0.0474	N	0.04959	-0.14	0.09310	N	1	B;B	0.19445	0.036;0.016	B;B	0.17098	0.01;0.017	T	0.16808	-1.0390	10	0.56958	D	0.05	-2.6743	8.8698	0.35309	0.0:0.622:0.194:0.184	.	734;767	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	M	767;767;734	ENSP00000393776:T767M;ENSP00000344034:T767M;ENSP00000427296:T734M	ENSP00000344034:T767M	T	+	2	0	FCHO2	72419226	0.915000	0.31059	0.134000	0.22075	0.742000	0.42306	2.852000	0.48310	-0.195000	0.10382	-1.969000	0.00466	ACG		0.433	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		7	37	0	0	0	0.001984	0	7	37				
SLCO6A1	133482	broad.mit.edu	37	5	101774337	101774337	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:101774337C>A	ENST00000506729.1	-	7	1431	c.1260G>T	c.(1258-1260)gtG>gtT	p.V420V	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V358V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.V420V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	420						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTGTAGTTGCCACAGTGGGTG	0.294																																							uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1258-1260)GTG>GTT		solute carrier organic anion transporter family,							43.0	49.0	47.0					5																	101774337		2203	4289	6492	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101774337C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1260G>T	5.37:g.101774337C>A						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Silent_p.V420V|SLCO6A1_uc003knq.2_Silent_p.V358V	p.V420V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	7	1432	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	420			Extracellular (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.1260G>T	CCDS34206.1																																																																																				0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		49	12	1	0	5.37117e-13	0.00361	8.74526e-13	49	12				
CAMK4	814	broad.mit.edu	37	5	110730453	110730453	+	Silent	SNP	C	C	G	rs558040766		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:110730453C>G	ENST00000282356.4	+	5	830	c.432C>G	c.(430-432)gcC>gcG	p.A144A	CAMK4_ENST00000512453.1_Silent_p.A144A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTGCAGATGCCGTTAAACAAA	0.388																																							uc011cvj.1		NA																	0				ovary(3)|lung(2)	5						c.(430-432)GCC>GCG		calcium/calmodulin-dependent protein kinase IV							140.0	140.0	140.0					5																	110730453		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110730453C>G	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.432C>G	5.37:g.110730453C>G						CAMK4_uc003kpf.2_Silent_p.A144A|CAMK4_uc010jbv.2_5'UTR	p.A144A	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	6	531	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	144			Protein kinase.		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.432C>G	CCDS4103.1																																																																																				0.388	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		24	33	0	0	0	0.002299	0	24	33				
TRIM36	55521	broad.mit.edu	37	5	114480312	114480312	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:114480312C>A	ENST00000282369.3	-	4	875	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	TRIM36_ENST00000514154.1_Missense_Mutation_p.A97S|TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000513154.1_Missense_Mutation_p.A240S	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	252					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTTTGTAGGCACTGCTCATA	0.368																																							uc003kqs.2		NA																	0				ovary(4)|lung(2)|breast(2)	8						c.(754-756)GCC>TCC		tripartite motif-containing 36 isoform 1							121.0	119.0	120.0					5																	114480312		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114480312C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.754G>T	5.37:g.114480312C>A	ENSP00000282369:p.Ala252Ser					TRIM36_uc011cwc.1_Missense_Mutation_p.A240S|TRIM36_uc003kqt.2_Missense_Mutation_p.A97S	p.A252S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	4	1263	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	252					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.754G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091958	0.94149	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.36340	1.26;1.26;1.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.72982	0.824;0.979	T	0.50833	-0.8781	10	0.31617	T	0.26	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	240;252	E9PFI8;Q9NQ86	.;TRI36_HUMAN	S	252;240;97	ENSP00000282369:A252S;ENSP00000423934:A240S;ENSP00000424259:A97S	ENSP00000282369:A252S	A	-	1	0	TRIM36	114508211	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.321000	0.79088	2.816000	0.96949	0.478000	0.44815	GCC		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		25	10	1	0	2.44723e-14	0.004656	4.10296e-14	25	10				
FBN2	2201	broad.mit.edu	37	5	127614379	127614379	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:127614379G>T	ENST00000508053.1	-	63	8267	c.7293C>A	c.(7291-7293)gcC>gcA	p.A2431A	FBN2_ENST00000262464.4_Silent_p.A2431A			P35556	FBN2_HUMAN	fibrillin 2	2431	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTTGTACTGGGCAGTTCCAG	0.458																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7291-7293)GCC>GCA		fibrillin 2 precursor							111.0	104.0	107.0					5																	127614379		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614379G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7293C>A	5.37:g.127614379G>T							p.A2431A	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	57	7732	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2431			TB 9.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.7293C>A	CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		45	20	1	0	1.63429e-32	0.00361	3.39975e-32	45	20				
CDC25C	995	broad.mit.edu	37	5	137665288	137665288	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:137665288C>A	ENST00000323760.6	-	3	521	c.243G>T	c.(241-243)gaG>gaT	p.E81D	CDC25C_ENST00000356505.3_Missense_Mutation_p.E81D|CDC25C_ENST00000513970.1_Missense_Mutation_p.E81D|CDC25C_ENST00000514555.1_Missense_Mutation_p.E81D|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	81					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCAGTTATCTCCCCACTGC	0.418																																							uc003lcp.1		NA																	0				lung(3)	3						c.(241-243)GAG>GAT		cell division cycle 25C isoform a							162.0	157.0	159.0					5																	137665288		2203	4300	6503	SO:0001583	missense	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137665288C>A	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.243G>T	5.37:g.137665288C>A	ENSP00000321656:p.Glu81Asp					CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.E81D|CDC25C_uc011cyp.1_Missense_Mutation_p.E98D|CDC25C_uc003lcs.1_Missense_Mutation_p.E159D|CDC25C_uc010jet.1_Missense_Mutation_p.E81D|CDC25C_uc003lct.1_Missense_Mutation_p.E81D|CDC25C_uc003lcu.1_Intron	p.E81D	NM_001790	NP_001781	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	514	-			81					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	c.243G>T	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520265	0.44866	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	4.4	4.4	0.53042	.	0.417829	0.20803	N	0.085397	T	0.50188	0.1601	L	0.52364	1.645	0.80722	D	1	P;P;D;P	0.67145	0.911;0.856;0.996;0.856	B;B;D;B	0.75484	0.373;0.206;0.986;0.136	T	0.32322	-0.9911	10	0.24483	T	0.36	-16.654	12.3532	0.55161	0.0:1.0:0.0:0.0	.	98;98;81;81	G3V1P6;B4DX61;P30307-2;P30307	.;.;.;MPIP3_HUMAN	D	81;81;81;98;81;81;98	ENSP00000321656:E81D;ENSP00000348898:E81D;ENSP00000424795:E81D;ENSP00000425470:E81D;ENSP00000427251:E81D;ENSP00000427105:E98D	ENSP00000321656:E81D	E	-	3	2	CDC25C	137693187	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.200000	0.51051	2.288000	0.76882	0.563000	0.77884	GAG		0.418	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			70	22	1	0	2.18329e-32	0.00361	4.52219e-32	70	22				
PCDHA1	56147	broad.mit.edu	37	5	140167441	140167441	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140167441C>A	ENST00000504120.2	+	1	1566	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	PCDHA1_ENST00000394633.3_Silent_p.P522P|PCDHA1_ENST00000378133.3_Silent_p.P522P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCAGCCCCTGGACCACG	0.677																																							uc003lhb.2		NA																	0				skin(1)	1						c.(1564-1566)CCC>CCA		protocadherin alpha 1 isoform 1 precursor							75.0	79.0	78.0					5																	140167441		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167441C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1566C>A	5.37:g.140167441C>A						PCDHA1_uc003lha.2_Silent_p.P522P|PCDHA1_uc003lgz.2_Silent_p.P522P	p.P522P	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1566	+			522			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1566C>A	CCDS54913.1																																																																																				0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		88	22	1	0	3.07327e-39	0.00361	6.5205e-39	88	22				
PCDHA6	56142	broad.mit.edu	37	5	140208979	140208979	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140208979C>T	ENST00000529310.1	+	1	1417	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L435L	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCGCTGTGGGCCAC	0.612																																							uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1303-1305)CTG>TTG		protocadherin alpha 6 isoform 1 precursor							59.0	70.0	66.0					5																	140208979		2201	4298	6499	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208979C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1303C>T	5.37:g.140208979C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.L435L|PCDHA6_uc011dab.1_Silent_p.L435L	p.L435L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1330	+			435			Cadherin 4.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1303C>T	CCDS47281.1																																																																																				0.612	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		28	59	0	0	0	0.002836	0	28	59				
PCDHA7	56141	broad.mit.edu	37	5	140214890	140214890	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140214890A>G	ENST00000525929.1	+	1	922	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.M308V|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGGACATATGGATTTTGA	0.448																																					NSCLC(160;258 2013 5070 22440 28951)	NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(922-924)ATG>GTG		protocadherin alpha 7 isoform 1 precursor							73.0	65.0	68.0					5																	140214890		2202	4279	6481	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214890A>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.922A>G	5.37:g.140214890A>G	ENSP00000436426:p.Met308Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.M308V	p.M308V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	922	+			308			Cadherin 3.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.922A>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	0.581	-0.837209	0.02692	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.46063	0.88;0.88	4.04	-2.0	0.07433	Cadherin (4);Cadherin-like (1);	0.358244	0.15682	U	0.249876	T	0.09512	0.0234	N	0.00521	-1.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.23762	-1.0179	10	0.38643	T	0.18	.	1.5493	0.02571	0.3146:0.3065:0.0821:0.2968	.	308;308	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	308	ENSP00000436426:M308V;ENSP00000367365:M308V	ENSP00000367365:M308V	M	+	1	0	PCDHA7	140195074	0.000000	0.05858	0.008000	0.14137	0.652000	0.38707	-0.290000	0.08354	0.062000	0.16340	0.254000	0.18369	ATG		0.448	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		5	27	0	0	0	0.001855	0	5	27				
PCDHA11	56138	broad.mit.edu	37	5	140250330	140250330	+	Missense_Mutation	SNP	G	G	T	rs369212308		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140250330G>T	ENST00000398640.2	+	1	1642	c.1642G>T	c.(1642-1644)Gtg>Ttg	p.V548L	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGCAACGTGACGCTGCA	0.657													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17553	0.0		0.0	False		,,,				2504	0.0						uc003lia.2		NA																	0				breast(1)	1						c.(1642-1644)GTG>TTG		protocadherin alpha 11 isoform 1 precursor							83.0	91.0	89.0					5																	140250330		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250330G>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1642G>T	5.37:g.140250330G>T	ENSP00000381636:p.Val548Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V548L	p.V548L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2500	+			548			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1642G>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884710	0.51908	.	.	ENSG00000249158	ENST00000398640	T	0.50813	0.73	5.15	5.15	0.70609	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.55016	0.1894	M	0.77712	2.385	0.32414	N	0.550305	B;B	0.28783	0.192;0.222	B;B	0.35470	0.104;0.203	T	0.66783	-0.5836	9	0.62326	D	0.03	.	13.9643	0.64199	0.0:0.1521:0.8479:0.0	.	548;548	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	548	ENSP00000381636:V548L	ENSP00000381636:V548L	V	+	1	0	PCDHA11	140230514	0.712000	0.27916	1.000000	0.80357	0.990000	0.78478	3.496000	0.53288	2.398000	0.81561	0.556000	0.70494	GTG		0.657	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		70	31	1	0	1.356e-25	0.00361	2.65389e-25	70	31				
PCDHB4	56131	broad.mit.edu	37	5	140501789	140501789	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140501789A>T	ENST00000194152.1	+	1	209	c.209A>T	c.(208-210)gAc>gTc	p.D70V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGACGATGACAAGCAGCGT	0.567																																							uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(208-210)GAC>GTC		protocadherin beta 4 precursor							65.0	67.0	67.0					5																	140501789		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501789A>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.209A>T	5.37:g.140501789A>T	ENSP00000194152:p.Asp70Val						p.D70V	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	209	+			70			Cadherin 1.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.209A>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555018	0.27739	.	.	ENSG00000081818	ENST00000194152	T	0.27720	1.65	4.66	3.5	0.40072	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.29945	0.0749	L	0.47016	1.485	0.20074	N	0.999934	P	0.34699	0.464	B	0.39971	0.315	T	0.25502	-1.0130	9	0.62326	D	0.03	.	6.3767	0.21511	0.7597:0.1581:0.0822:0.0	.	70	Q9Y5E5	PCDB4_HUMAN	V	70	ENSP00000194152:D70V	ENSP00000194152:D70V	D	+	2	0	PCDHB4	140481973	0.000000	0.05858	0.906000	0.35671	0.901000	0.52897	-0.302000	0.08221	0.922000	0.37019	0.533000	0.62120	GAC		0.567	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		32	9	0	0	0	0.001786	0	32	9				
DIAPH1	1729	broad.mit.edu	37	5	140953299	140953299	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140953299G>A	ENST00000398557.4	-	16	2258	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	DIAPH1_ENST00000518047.1_Silent_p.P697P|DIAPH1_ENST00000253811.6_Silent_p.P706P|DIAPH1_ENST00000398562.2_Silent_p.P685P|DIAPH1_ENST00000520569.1_Silent_p.P652P|DIAPH1_ENST00000389054.3_Silent_p.P706P|DIAPH1_ENST00000389057.5_Silent_p.P697P|DIAPH1_ENST00000398566.3_Silent_p.P697P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	706	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGGCAAGGGAGGAGGTG	0.637																																							uc003llb.3		NA																	0				skin(1)	1						c.(2116-2118)CCC>CCT		diaphanous 1 isoform 1							12.0	14.0	14.0					5																	140953299		1883	4102	5985	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953299G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2118C>T	5.37:g.140953299G>A						DIAPH1_uc003llc.3_Silent_p.P697P|DIAPH1_uc010jgc.1_Silent_p.P145P	p.P706P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2259	-			706			FH1.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.2118C>T	CCDS43374.1																																																																																				0.637	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		3	2	0	0	0	0.000602	0	3	2				
LARS	51520	broad.mit.edu	37	5	145531495	145531495	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:145531495T>C	ENST00000394434.2	-	14	1521	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	LARS_ENST00000545646.1_Missense_Mutation_p.Q406R|LARS_ENST00000510191.1_Missense_Mutation_p.Q398R|LARS_ENST00000274562.9_Missense_Mutation_p.Q425R	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	452	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATTCTGGCTCTGAATTTTCAA	0.363																																							uc003lnx.1		NA																	0					0						c.(1354-1356)CAG>CGG		leucyl-tRNA synthetase	L-Leucine(DB00149)						178.0	193.0	188.0					5																	145531495		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145531495T>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1355A>G	5.37:g.145531495T>C	ENSP00000377954:p.Gln452Arg					LARS_uc011dbq.1_Missense_Mutation_p.Q406R|LARS_uc011dbr.1_Missense_Mutation_p.Q398R|LARS_uc011dbs.1_Missense_Mutation_p.Q425R	p.Q452R	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	1593	-			452			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1355A>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194922	0.58017	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.64991	-0.12;-0.12;-0.12;-0.13	4.96	4.96	0.65561	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.66297	2.02	0.80722	D	1	B;P;B	0.44344	0.165;0.833;0.028	B;B;B	0.42282	0.109;0.382;0.072	T	0.65187	-0.6229	10	0.37606	T	0.19	-4.7762	14.9625	0.71166	0.0:0.0:0.0:1.0	.	425;406;452	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	R	452;406;398;425	ENSP00000377954:Q452R;ENSP00000437791:Q406R;ENSP00000426005:Q398R;ENSP00000274562:Q425R	ENSP00000274562:Q425R	Q	-	2	0	LARS	145511688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.015000	0.70791	1.999000	0.58509	0.460000	0.39030	CAG		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		156	31	0	0	0	0.00361	0	156	31				
SPINK6	404203	broad.mit.edu	37	5	147593482	147593482	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:147593482G>A	ENST00000325630.2	+	3	347	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	31	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGACTGTGGTGAGTTCCA	0.463																																							uc003lpa.2		NA																	0				ovary(1)	1						c.(91-93)GGT>AGT		serine protease inhibitor, Kazal type 6							136.0	110.0	119.0					5																	147593482		2203	4300	6503	SO:0001583	missense	404203					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147593482G>A	AY358716	CCDS34268.1	5q32	2011-08-31	2005-08-17		ENSG00000178172	ENSG00000178172		"""Serine peptidase inhibitors, Kazal type"""	29486	protein-coding gene	gene with protein product	"""protease inhibitor H"""	615868	"""serine protease inhibitor, Kazal type 6"""			15060002	Standard	NM_205841		Approved	MGC21394, UNQ844, BUSI2	uc021yff.1	Q6UWN8	OTTHUMG00000163425	ENST00000325630.2:c.91G>A	5.37:g.147593482G>A	ENSP00000324870:p.Gly31Ser						p.G31S	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	347	+			31			Kazal-like.		E0X656|Q8N5P0	Missense_Mutation	SNP	ENST00000325630.2	37	c.91G>A	CCDS34268.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.203698	0.01581	.	.	ENSG00000178172	ENST00000514389;ENST00000325630	T;T	0.72282	0.74;-0.64	5.75	0.0296	0.14163	Proteinase inhibitor I1, Kazal (2);	1.384650	0.04038	N	0.302676	T	0.41971	0.1182	.	.	.	0.09310	N	0.999996	B	0.12630	0.006	B	0.12837	0.008	T	0.41998	-0.9477	9	0.02654	T	1	0.158	4.1812	0.10376	0.3587:0.0:0.4802:0.1611	.	31	Q6UWN8	ISK6_HUMAN	S	31	ENSP00000421119:G31S;ENSP00000324870:G31S	ENSP00000324870:G31S	G	+	1	0	SPINK6	147573675	0.026000	0.19158	0.428000	0.26697	0.205000	0.24178	0.215000	0.17562	0.120000	0.18254	-0.136000	0.14681	GGT		0.463	SPINK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373332.1	NM_205841		42	6	0	0	0	0.002522	0	42	6				
GM2A	2760	broad.mit.edu	37	5	150632802	150632802	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:150632802C>T	ENST00000357164.3	+	1	350	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	9					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGCTCCCCTCCTGATCGC	0.592																																							uc003ltr.3		NA																	0					0						c.(25-27)CTC>TTC		GM2 ganglioside activator precursor							63.0	60.0	61.0					5																	150632802		2203	4300	6503	SO:0001583	missense	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150632802C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.25C>T	5.37:g.150632802C>T	ENSP00000349687:p.Leu9Phe					GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Missense_Mutation_p.L9F	p.L9F	NM_000405	NP_000396	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	190	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	9					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	ENST00000357164.3	37	c.25C>T	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328515	0.10956	.	.	ENSG00000196743	ENST00000357164	T	0.67698	-0.28	3.17	-4.67	0.03319	.	1.394260	0.05209	N	0.506416	T	0.45856	0.1363	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.23261	-1.0193	10	0.39692	T	0.17	-43.0287	6.0617	0.19842	0.0:0.33:0.2376:0.4324	.	9;9	B4DQM5;P17900	.;SAP3_HUMAN	F	9	ENSP00000349687:L9F	ENSP00000349687:L9F	L	+	1	0	GM2A	150612995	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.913000	0.04042	-1.917000	0.01074	-1.943000	0.00494	CTC		0.592	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		21	50	0	0	0	0.002299	0	21	50				
EBF1	1879	broad.mit.edu	37	5	158250262	158250262	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:158250262C>A	ENST00000313708.6	-	8	982	c.700G>T	c.(700-702)Gtc>Ttc	p.V234F	EBF1_ENST00000380654.4_Missense_Mutation_p.V211F|EBF1_ENST00000517373.1_Missense_Mutation_p.V234F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	234					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTATTATGGACAAACATGTTA	0.468			T	HMGA2	lipoma																																		uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(700-702)GTC>TTC		early B-cell factor							86.0	71.0	76.0					5																	158250262		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158250262C>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.700G>T	5.37:g.158250262C>A	ENSP00000322898:p.Val234Phe					EBF1_uc011ddw.1_Missense_Mutation_p.V101F|EBF1_uc011ddx.1_Missense_Mutation_p.V234F|EBF1_uc003lxl.3_Missense_Mutation_p.V211F	p.V234F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1002	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	234					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.700G>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277950	0.80692	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.61980	0.06;0.11;0.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.87827	2.91	0.80722	D	1	P;D;D;P	0.76494	0.755;0.999;0.988;0.929	B;D;P;P	0.76071	0.258;0.987;0.892;0.596	D	0.85562	0.1228	10	0.87932	D	0	-7.0657	19.4464	0.94849	0.0:1.0:0.0:0.0	.	234;220;234;211	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	F	234;234;211;234	ENSP00000322898:V234F;ENSP00000370029:V211F;ENSP00000428020:V234F	ENSP00000322898:V234F	V	-	1	0	EBF1	158182840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.558000	0.86282	0.655000	0.94253	GTC		0.468	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		25	10	1	0	3.08376e-08	0.00333	4.4876e-08	25	10				
GABRG2	2566	broad.mit.edu	37	5	161580279	161580279	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:161580279C>A	ENST00000361925.4	+	9	1529	c.1309C>A	c.(1309-1311)Cgc>Agc	p.R437S	GABRG2_ENST00000393933.4_Missense_Mutation_p.R342S|GABRG2_ENST00000356592.3_Missense_Mutation_p.R445S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R485S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	437	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATACATATCCGCATTGCCAA	0.498																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1309-1311)CGC>AGC		gamma-aminobutyric acid A receptor, gamma 2							263.0	258.0	260.0					5																	161580279		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580279C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1309C>A	5.37:g.161580279C>A	ENSP00000354651:p.Arg437Ser					GABRG2_uc010jjc.2_Missense_Mutation_p.R485S|GABRG2_uc003lyy.3_Missense_Mutation_p.R445S|GABRG2_uc011dej.1_Missense_Mutation_p.R342S	p.R437S	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1667	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	437			Cytoplasmic (Probable).|Interaction with GABARAP (Potential).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1309C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522992	0.27211	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.048383	0.85682	D	0.000000	T	0.77896	0.4199	N	0.12569	0.235	0.80722	D	1	P;B;P	0.51653	0.947;0.4;0.535	P;B;B	0.53722	0.733;0.173;0.325	T	0.72228	-0.4354	10	0.02654	T	1	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	485;437;445	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	S	445;485;437;342	ENSP00000349000:R445S;ENSP00000410732:R485S;ENSP00000354651:R437S;ENSP00000377510:R342S	ENSP00000349000:R445S	R	+	1	0	GABRG2	161512857	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.795000	0.62489	2.824000	0.97209	0.655000	0.94253	CGC		0.498	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			109	25	1	0	3.28517e-43	0.00361	7.03232e-43	109	25				
HMMR	3161	broad.mit.edu	37	5	162917455	162917455	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:162917455A>G	ENST00000358715.3	+	17	2055	c.2019A>G	c.(2017-2019)caA>caG	p.Q673Q	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Silent_p.Q674Q|HMMR_ENST00000353866.3_Silent_p.Q658Q|HMMR_ENST00000432118.2_Silent_p.Q587Q|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	673					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CAAAACTTCAAGAGGAATTGA	0.313																																							uc003lzf.2		NA																	0					0						c.(2017-2019)CAA>CAG		hyaluronan-mediated motility receptor isoform b							64.0	70.0	68.0					5																	162917455		2203	4299	6502	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917455A>G	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2019A>G	5.37:g.162917455A>G						HMMR_uc003lzh.2_Silent_p.Q674Q|HMMR_uc003lzg.2_Silent_p.Q658Q|HMMR_uc011dem.1_Silent_p.Q587Q|uc003lzi.2_Intron	p.Q673Q	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2201	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	673					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.2019A>G	CCDS4362.1																																																																																				0.313	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		4	105	0	0	0	0.000602	0	4	105				
TENM2	57451	broad.mit.edu	37	5	167674028	167674028	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:167674028A>T	ENST00000518659.1	+	27	6123	c.6084A>T	c.(6082-6084)ttA>ttT	p.L2028F	TENM2_ENST00000545108.1_Missense_Mutation_p.L2027F|TENM2_ENST00000519204.1_Missense_Mutation_p.L1907F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1789F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1852F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2028					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCTCCAAGTTATCAGAGATTG	0.527																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(6055-6057)TTA>TTT		odz, odd Oz/ten-m homolog 2							85.0	84.0	85.0					5																	167674028		1921	4127	6048	SO:0001583	missense	57451							g.chr5:167674028A>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6084A>T	5.37:g.167674028A>T	ENSP00000429430:p.Leu2028Phe					ODZ2_uc003lzr.3_Missense_Mutation_p.L1789F|ODZ2_uc003lzt.3_Missense_Mutation_p.L1392F|ODZ2_uc010jje.2_Missense_Mutation_p.L1283F	p.L2019F	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6057	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6057A>T		.	.	.	.	.	.	.	.	.	.	A	16.11	3.029512	0.54790	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92249	-2.49;-2.48;-2.63;-2.94;-3.0	5.44	-4.66	0.03329	.	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	M	0.84948	2.725	0.44728	D	0.997721	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.988;0.974;0.994	D	0.94123	0.7381	10	0.66056	D	0.02	.	17.0119	0.86408	0.278:0.0:0.722:0.0	.	2027;2028;1789	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	2028;2027;1907;1789;1852	ENSP00000429430:L2028F;ENSP00000438635:L2027F;ENSP00000428964:L1907F;ENSP00000427874:L1789F;ENSP00000384905:L1852F	ENSP00000384905:L1852F	L	+	3	2	ODZ2	167606606	0.585000	0.26774	0.130000	0.21974	0.874000	0.50279	-0.122000	0.10627	-0.779000	0.04560	-0.441000	0.05720	TTA		0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		16	57	0	0	0	0.008871	0	16	57				
SLIT3	6586	broad.mit.edu	37	5	168233555	168233555	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:168233555G>C	ENST00000519560.1	-	9	1250	c.831C>G	c.(829-831)tcC>tcG	p.S277S	SLIT3_ENST00000332966.8_Silent_p.S277S|SLIT3_ENST00000404867.3_Silent_p.S277S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	277	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGGAGATGGAGTTGGCAT	0.587																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(829-831)TCC>TCG		slit homolog 3 precursor							78.0	72.0	74.0					5																	168233555		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168233555G>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.831C>G	5.37:g.168233555G>C						SLIT3_uc010jjg.2_Silent_p.S277S|SLIT3_uc010jji.2_Silent_p.S277S|SLIT3_uc003mac.1_Silent_p.S74S	p.S277S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1251	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	277			LRRNT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.831C>G	CCDS4369.1																																																																																				0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		49	16	0	0	0	0.00361	0	49	16				
RNF44	22838	broad.mit.edu	37	5	175956382	175956382	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:175956382C>T	ENST00000274811.4	-	10	1667	c.1143G>A	c.(1141-1143)gtG>gtA	p.V381V	RNF44_ENST00000537487.1_Silent_p.V300V	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	381							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGCAGACCACACACCTGT	0.627																																							uc003mek.1		NA																	0					0						c.(1141-1143)GTG>GTA		ring finger protein 44							49.0	51.0	50.0					5																	175956382		2203	4300	6503	SO:0001819	synonymous_variant	22838						zinc ion binding	g.chr5:175956382C>T	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1143G>A	5.37:g.175956382C>T						RNF44_uc011dfo.1_Silent_p.V289V|RNF44_uc003mel.1_Silent_p.V70V	p.V381V	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1668	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	381			RING-type; atypical.		B4DYE0|Q8ND05|Q9UPQ2	Silent	SNP	ENST00000274811.4	37	c.1143G>A	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298204	0.23650	.	.	ENSG00000146083	ENST00000506378	.	.	.	5.07	0.141	0.14811	.	.	.	.	.	T	0.54775	0.1879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44907	-0.9297	4	.	.	.	-23.6329	8.3957	0.32555	0.5268:0.3235:0.1497:0.0	.	.	.	.	S	136	.	.	G	-	1	0	RNF44	175888988	0.105000	0.21958	0.994000	0.49952	0.897000	0.52465	-0.478000	0.06575	-0.169000	0.10834	0.549000	0.68633	GGT		0.627	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			25	10	0	0	0	0.00333	0	25	10				
HIVEP1	3096	broad.mit.edu	37	6	12163750	12163750	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:12163750C>T	ENST00000379388.2	+	9	7545	c.7213C>T	c.(7213-7215)Cat>Tat	p.H2405Y	HIVEP1_ENST00000541134.1_Missense_Mutation_p.H270Y	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2405					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGGGGGATCCATGTGGTACC	0.527																																							uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7213-7215)CAT>TAT		human immunodeficiency virus type I enhancer							98.0	102.0	101.0					6																	12163750		2058	4198	6256	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12163750C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7213C>T	6.37:g.12163750C>T	ENSP00000368698:p.His2405Tyr					HIVEP1_uc011diq.1_RNA	p.H2405Y	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7392	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2405					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7213C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731805	0.69189	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.34275	2.85;1.37	6.17	5.3	0.74995	.	0.205916	0.24339	N	0.039397	T	0.35566	0.0936	L	0.47716	1.5	0.42936	D	0.994334	D	0.57899	0.981	P	0.52793	0.709	T	0.28364	-1.0046	10	0.72032	D	0.01	-7.5978	16.9456	0.86229	0.1289:0.8711:0.0:0.0	.	2405	P15822	ZEP1_HUMAN	Y	2405;270;387	ENSP00000368698:H2405Y;ENSP00000445617:H270Y	ENSP00000368698:H2405Y	H	+	1	0	HIVEP1	12271736	1.000000	0.71417	0.994000	0.49952	0.238000	0.25445	7.153000	0.77428	1.602000	0.50124	0.655000	0.94253	CAT		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		133	15	0	0	0	0.00361	0	133	15				
SLC44A4	80736	broad.mit.edu	37	6	31831479	31831479	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:31831479G>A	ENST00000229729.6	-	21	2078	c.2058C>T	c.(2056-2058)taC>taT	p.Y686Y	SLC44A4_ENST00000544672.1_Silent_p.Y610Y|SLC44A4_ENST00000375562.4_Silent_p.Y644Y|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	686					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCTTGGACATGTAGTAGGGCC	0.597																																							uc010jti.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(2056-2058)TAC>TAT		choline transporter-like protein 4	Choline(DB00122)						55.0	55.0	55.0					6																	31831479		1511	2708	4219	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31831479G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2058C>T	6.37:g.31831479G>A						NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.Y686Y	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			21	2124	-			686			Cytoplasmic (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.2058C>T	CCDS4724.2																																																																																				0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			15	2	0	0	0	0.00245	0	15	2				
SNRPC	6631	broad.mit.edu	37	6	34730397	34730397	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:34730397G>T	ENST00000244520.5	+	3	215	c.77G>T	c.(76-78)aGt>aTt	p.S26I	SNRPC_ENST00000374018.1_5'UTR|SNRPC_ENST00000374017.3_Missense_Mutation_p.S47I|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						ACACACTGCAGTGGAAGGAAA	0.343																																					NSCLC(131;576 1831 5287 11175 13324)	NSCLC(131;576 1831 5287 11175 13324)	uc003ojt.1		NA																	0				pancreas(1)	1						c.(76-78)AGT>ATT		small nuclear ribonucleoprotein polypeptide C							83.0	77.0	79.0					6																	34730397		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34730397G>T		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.77G>T	6.37:g.34730397G>T	ENSP00000244520:p.Ser26Ile						p.S26I	NM_003093	NP_003084	P09234	RU1C_HUMAN			3	92	+			26	CSG -> RSR (in Ref. 2; AAA36618).		Matrin-type.			Missense_Mutation	SNP	ENST00000244520.5	37	c.77G>T	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337453	0.95758	.	.	ENSG00000124562	ENST00000244520;ENST00000374017	T;T	0.26957	1.7;1.7	6.17	6.17	0.99709	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.53249	1.67	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.02031	-1.1226	10	0.48119	T	0.1	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	26	P09234	RU1C_HUMAN	I	26;47	ENSP00000244520:S26I;ENSP00000363129:S47I	ENSP00000244520:S26I	S	+	2	0	SNRPC	34838375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.450000	0.80656	2.941000	0.99782	0.655000	0.94253	AGT		0.343	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		7	50	1	0	0.000157383	0.00308	0.000205348	7	50				
DNAH8	1769	broad.mit.edu	37	6	38810560	38810560	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:38810560C>A	ENST00000359357.3	+	33	4329	c.4075C>A	c.(4075-4077)Cag>Aag	p.Q1359K	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1359K|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1576K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1359					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						GGCCATGAAACAGAGACACTG	0.388																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4075-4077)CAG>AAG		dynein, axonemal, heavy polypeptide 8							128.0	119.0	122.0					6																	38810560		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810560C>A	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.4075C>A	6.37:g.38810560C>A	ENSP00000352312:p.Gln1359Lys						p.Q1359K	NM_001371	NP_001362					33	4675	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4075C>A		.	.	.	.	.	.	.	.	.	.	C	10.25	1.297542	0.23650	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.59906	0.23;0.23;0.23	5.25	4.38	0.52667	Dynein heavy chain, domain-2 (1);	0.615084	0.17483	N	0.172627	T	0.20007	0.0481	N	0.16166	0.38	0.24617	N	0.993699	B	0.06786	0.001	B	0.11329	0.006	T	0.12451	-1.0547	10	0.30078	T	0.28	.	11.1923	0.48691	0.144:0.7174:0.1385:0.0	.	1359	Q96JB1	DYH8_HUMAN	K	1564;1564;1359;1359	ENSP00000333363:Q1564K;ENSP00000352312:Q1359K;ENSP00000402294:Q1359K	ENSP00000333363:Q1564K	Q	+	1	0	DNAH8	38918538	0.003000	0.15002	1.000000	0.80357	0.946000	0.59487	0.663000	0.25053	1.324000	0.45282	0.650000	0.86243	CAG		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		81	23	1	0	1.52589e-26	0.00361	3.05497e-26	81	23				
BAI3	577	broad.mit.edu	37	6	69349118	69349118	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:69349118G>C	ENST00000370598.1	+	3	1372	c.551G>C	c.(550-552)gGg>gCg	p.G184A		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	184					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGAAAATGGGAGAACAGAA	0.423																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(550-552)GGG>GCG		brain-specific angiogenesis inhibitor 3							70.0	70.0	70.0					6																	69349118		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349118G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.551G>C	6.37:g.69349118G>C	ENSP00000359630:p.Gly184Ala					BAI3_uc010kak.2_Missense_Mutation_p.G184A	p.G184A	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	999	+		all_lung(197;0.212)	184			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.551G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341531	0.61073	.	.	ENSG00000135298	ENST00000370598	T	0.21031	2.03	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.20007	0.0481	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.11690	-1.0577	10	0.24483	T	0.36	.	19.1611	0.93533	0.0:0.0:1.0:0.0	.	184	O60242	BAI3_HUMAN	A	184	ENSP00000359630:G184A	ENSP00000359630:G184A	G	+	2	0	BAI3	69405839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.610000	0.88304	0.655000	0.94253	GGG		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			19	34	0	0	0	0.006122	0	19	34				
CD109	135228	broad.mit.edu	37	6	74497058	74497058	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:74497058G>T	ENST00000287097.5	+	21	2551	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	CD109_ENST00000422508.2_Missense_Mutation_p.E736D|CD109_ENST00000437994.2_Missense_Mutation_p.E813D			Q6YHK3	CD109_HUMAN	CD109 molecule	813					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCCAGTGAGGATGGGGCAA	0.443																																							uc003php.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(2437-2439)GAG>GAT		CD109 antigen isoform 1 precursor							97.0	96.0	96.0					6																	74497058		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74497058G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2439G>T	6.37:g.74497058G>T	ENSP00000287097:p.Glu813Asp					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.E813D|CD109_uc010kba.2_Missense_Mutation_p.E736D	p.E813D	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			21	2864	+			813					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2439G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312864	0.23908	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.24350	1.86;2.07;1.86	5.45	2.63	0.31362	.	0.281518	0.40554	N	0.001077	T	0.05181	0.0138	L	0.43923	1.385	0.24814	N	0.992621	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.16289	0.015;0.015;0.004	T	0.41466	-0.9507	10	0.12766	T	0.61	.	3.2511	0.06815	0.3873:0.0:0.4365:0.1761	.	736;813;813	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	D	813;736;813	ENSP00000388062:E813D;ENSP00000404475:E736D;ENSP00000287097:E813D	ENSP00000287097:E813D	E	+	3	2	CD109	74553779	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.195000	0.32186	0.374000	0.24650	0.650000	0.86243	GAG		0.443	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		30	37	1	0	4.31634e-10	0.002445	6.65493e-10	30	37				
ZNF292	23036	broad.mit.edu	37	6	87970160	87970160	+	Silent	SNP	G	G	T	rs371732567		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:87970160G>T	ENST00000369577.3	+	8	6856	c.6813G>T	c.(6811-6813)tcG>tcT	p.S2271S	ZNF292_ENST00000339907.4_Silent_p.S2266S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2271						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAACCCGGTCGAATCTCCTCC	0.418																																							uc003plm.3		NA																	0				ovary(4)	4						c.(6811-6813)TCG>TCT		zinc finger protein 292							78.0	76.0	76.0					6																	87970160		1858	4104	5962	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970160G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6813G>T	6.37:g.87970160G>T							p.S2271S	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6854	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2271			C2H2-type 14.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6813G>T	CCDS47457.1																																																																																				0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		14	27	1	0	6.72482e-11	0.003163	1.05034e-10	14	27				
ORC3	23595	broad.mit.edu	37	6	88344667	88344667	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88344667A>T	ENST00000392844.3	+	12	1338	c.1290A>T	c.(1288-1290)ccA>ccT	p.P430P	ORC3_ENST00000417380.2_Silent_p.P377P|ORC3_ENST00000257789.4_Silent_p.P430P|ORC3_ENST00000546266.1_Silent_p.P287P	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	430					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCAAGTATCCACTAGGTCGAC	0.363																																							uc003pmh.2		NA																	0					0						c.(1288-1290)CCA>CCT		origin recognition complex, subunit 3 isoform 2							133.0	126.0	128.0					6																	88344667		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88344667A>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1290A>T	6.37:g.88344667A>T						ORC3L_uc011dzl.1_Silent_p.P430P|ORC3L_uc011dzm.1_Silent_p.P430P|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.P430P|ORC3L_uc003pmi.2_Silent_p.P392P|ORC3L_uc011dzo.1_Silent_p.P287P|ORC3L_uc011dzp.1_Silent_p.P287P	p.P430P	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	12	1334	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	430					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.1290A>T	CCDS43486.1																																																																																				0.363	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			21	62	0	0	0	0.00278	0	21	62				
CNR1	1268	broad.mit.edu	37	6	88854203	88854203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88854203C>A	ENST00000537554.1	-	2	4353	c.791G>T	c.(790-792)tGc>tTc	p.C264F	CNR1_ENST00000428600.2_Missense_Mutation_p.C264F|CNR1_ENST00000535130.1_Missense_Mutation_p.C264F|CNR1_ENST00000369501.2_Missense_Mutation_p.C264F|CNR1_ENST00000468898.1_Missense_Mutation_p.C231F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.C203F|CNR1_ENST00000369499.2_Missense_Mutation_p.C264F|CNR1_ENST00000549890.1_Missense_Mutation_p.C264F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	264					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AATGTCTGAGCAAACAGATTG	0.512																																							uc011dzq.1		NA																	0				skin(2)	2						c.(790-792)TGC>TTC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						96.0	83.0	87.0					6																	88854203		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854203C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.791G>T	6.37:g.88854203C>A	ENSP00000441046:p.Cys264Phe					CNR1_uc010kbz.2_Missense_Mutation_p.C264F|CNR1_uc011dzr.1_Missense_Mutation_p.C264F|CNR1_uc011dzs.1_Missense_Mutation_p.C264F|CNR1_uc003pmq.3_Missense_Mutation_p.C264F|CNR1_uc011dzt.1_Missense_Mutation_p.C264F|CNR1_uc010kca.2_Missense_Mutation_p.C231F	p.C264F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4354	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	264			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.791G>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468687	0.43839	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.80466	-0.1370	10	0.87932	D	0	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	231;264	P21554-3;P21554	.;CNR1_HUMAN	F	264;264;264;264;264;231;264;203	ENSP00000358513:C264F;ENSP00000442689:C264F;ENSP00000441046:C264F;ENSP00000358511:C264F;ENSP00000446819:C264F;ENSP00000420188:C231F;ENSP00000412192:C264F;ENSP00000449549:C203F	ENSP00000358511:C264F	C	-	2	0	CNR1	88910922	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.818000	0.86416	2.800000	0.96347	0.655000	0.94253	TGC		0.512	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			14	31	1	0	1.5842e-08	0.001855	2.31593e-08	14	31				
CNR1	1268	broad.mit.edu	37	6	88854814	88854814	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88854814C>G	ENST00000537554.1	-	2	3742	c.180G>C	c.(178-180)gaG>gaC	p.E60D	CNR1_ENST00000428600.2_Missense_Mutation_p.E60D|CNR1_ENST00000535130.1_Missense_Mutation_p.E60D|CNR1_ENST00000369501.2_Missense_Mutation_p.E60D|CNR1_ENST00000468898.1_Missense_Mutation_p.E27D|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.E60D|CNR1_ENST00000549890.1_Missense_Mutation_p.E60D	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	60					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGTCATCTTCTCTTGGAAGG	0.463																																							uc011dzq.1		NA																	0				skin(2)	2						c.(178-180)GAG>GAC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						78.0	77.0	77.0					6																	88854814		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854814C>G	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.180G>C	6.37:g.88854814C>G	ENSP00000441046:p.Glu60Asp					CNR1_uc010kbz.2_Missense_Mutation_p.E60D|CNR1_uc011dzr.1_Missense_Mutation_p.E60D|CNR1_uc011dzs.1_Missense_Mutation_p.E60D|CNR1_uc003pmq.3_Missense_Mutation_p.E60D|CNR1_uc011dzt.1_Missense_Mutation_p.E60D|CNR1_uc010kca.2_Missense_Mutation_p.E27D	p.E60D	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3743	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	60			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.180G>C	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	5.856	0.342184	0.11069	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000551417	T;T;T;T;T;T;T	0.75938	-0.91;-0.91;-0.91;-0.91;-0.91;-0.98;-0.91	5.77	-1.27	0.09347	.	0.076514	0.49305	D	0.000145	T	0.25531	0.0621	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04946	-1.0916	10	0.37606	T	0.19	.	2.2239	0.03979	0.1156:0.2943:0.1195:0.4706	.	27;60	P21554-3;P21554	.;CNR1_HUMAN	D	60;60;60;60;60;27;60;60	ENSP00000358513:E60D;ENSP00000442689:E60D;ENSP00000441046:E60D;ENSP00000358511:E60D;ENSP00000446819:E60D;ENSP00000420188:E27D;ENSP00000412192:E60D	ENSP00000358511:E60D	E	-	3	2	CNR1	88911533	0.990000	0.36364	0.989000	0.46669	0.452000	0.32318	0.125000	0.15749	-0.444000	0.07170	-0.253000	0.11424	GAG		0.463	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			17	17	0	0	0	0.00499	0	17	17				
FAXC	84553	broad.mit.edu	37	6	99790813	99790813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:99790813C>A	ENST00000389677.5	-	2	645	c.363G>T	c.(361-363)aaG>aaT	p.K121N	FAXC_ENST00000538471.1_5'Flank	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	121						integral component of membrane (GO:0016021)											AAGTTTCCATCTTTAAACAGA	0.353																																							uc003ppj.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(361-363)AAG>AAT		hypothetical protein LOC84553							144.0	132.0	136.0					6																	99790813		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99790813C>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.363G>T	6.37:g.99790813C>A	ENSP00000374328:p.Lys121Asn					C6orf168_uc003ppi.3_5'UTR	p.K121N	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.073)	2	646	-		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)	121					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.363G>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452948	0.63290	.	.	ENSG00000146267	ENST00000389677	T	0.18810	2.19	5.44	3.02	0.34903	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50600	-0.8809	10	0.87932	D	0	-7.5263	9.7285	0.40346	0.0:0.1419:0.0:0.8581	.	121	Q5TGI0	CF168_HUMAN	N	121	ENSP00000374328:K121N	ENSP00000374328:K121N	K	-	3	2	C6orf168	99897534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.321000	0.33678	0.377000	0.24735	-0.238000	0.12139	AAG		0.353	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		19	26	1	0	1.56452e-12	0.007413	2.50899e-12	19	26				
SIM1	6492	broad.mit.edu	37	6	100838354	100838354	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:100838354T>A	ENST00000369208.3	-	12	2966	c.2184A>T	c.(2182-2184)agA>agT	p.R728S	SIM1_ENST00000262901.4_Missense_Mutation_p.R728S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	728	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGAATAGTTTCTAATGGTTT	0.448																																							uc003pqj.3		NA																	0				ovary(4)	4						c.(2182-2184)AGA>AGT		single-minded homolog 1							167.0	154.0	158.0					6																	100838354		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838354T>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2184A>T	6.37:g.100838354T>A	ENSP00000358210:p.Arg728Ser					SIM1_uc010kcu.2_Missense_Mutation_p.R728S	p.R728S	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2391	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	728			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2184A>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450575	0.63290	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.07908	3.15;3.15	6.1	2.41	0.29592	Single-minded, C-terminal (1);	0.091220	0.85682	D	0.000000	T	0.07458	0.0188	L	0.27053	0.805	0.54753	D	0.999983	D	0.57899	0.981	D	0.69824	0.966	T	0.14868	-1.0457	10	0.62326	D	0.03	.	8.8109	0.34967	0.0:0.2694:0.0:0.7306	.	728	P81133	SIM1_HUMAN	S	728	ENSP00000358210:R728S;ENSP00000262901:R728S	ENSP00000262901:R728S	R	-	3	2	SIM1	100945075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.162000	0.31786	0.513000	0.28278	0.528000	0.53228	AGA		0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		54	63	0	0	0	0.00361	0	54	63				
SLC22A16	85413	broad.mit.edu	37	6	110746181	110746181	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:110746181C>T	ENST00000368919.3	-	8	1695	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	SLC22A16_ENST00000330550.4_Silent_p.E509E	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	543					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CATTCTCTGACTCCAGTTTTG	0.473																																							uc003puf.2		NA																	0				ovary(1)	1						c.(1627-1629)GAG>GAA		solute carrier family 22, member 16							142.0	134.0	137.0					6																	110746181		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746181C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1629G>A	6.37:g.110746181C>T						SLC22A16_uc003pue.2_Silent_p.E524E	p.E543E	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1696	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	543					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1629G>A	CCDS5084.1																																																																																				0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		35	68	0	0	0	0.003271	0	35	68				
ALDH8A1	64577	broad.mit.edu	37	6	135263559	135263559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:135263559G>T	ENST00000265605.2	-	3	498	c.430C>A	c.(430-432)Ccg>Acg	p.P144T	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P144T|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P144T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	144					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACTCCCACCGGGGCCCGCACC	0.572																																							uc003qew.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(430-432)CCG>ACG		aldehyde dehydrogenase 8A1 isoform 1							76.0	72.0	73.0					6																	135263559		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263559G>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.430C>A	6.37:g.135263559G>T	ENSP00000265605:p.Pro144Thr					ALDH8A1_uc003qex.2_Missense_Mutation_p.P144T|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.P144T	p.P144T	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	483	-	Colorectal(23;0.221)		144					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.430C>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686627	0.47991	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.72615	-0.67;-0.67;-0.67	5.32	4.46	0.54185	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.049040	0.85682	D	0.000000	D	0.88032	0.6328	H	0.98068	4.14	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	D;D;D	0.71414	0.973;0.927;0.956	D	0.92874	0.6317	10	0.87932	D	0	.	16.1849	0.81946	0.0:0.1334:0.8666:0.0	.	144;144;144	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	T	144	ENSP00000265605:P144T;ENSP00000356819:P144T;ENSP00000356821:P144T	ENSP00000265605:P144T	P	-	1	0	ALDH8A1	135305252	1.000000	0.71417	0.027000	0.17364	0.006000	0.05464	7.971000	0.88012	1.240000	0.43803	-0.127000	0.14921	CCG		0.572	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			24	23	1	0	2.39556e-15	0.00278	4.11711e-15	24	23				
MAP3K5	4217	broad.mit.edu	37	6	136934306	136934306	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:136934306T>A	ENST00000359015.4	-	17	2727	c.2367A>T	c.(2365-2367)gaA>gaT	p.E789D	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E36D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTTTAATCCTTCCAGTATTT	0.383																																							uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2365-2367)GAA>GAT		mitogen-activated protein kinase kinase kinase							153.0	142.0	146.0					6																	136934306		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136934306T>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2367A>T	6.37:g.136934306T>A	ENSP00000351908:p.Glu789Asp					MAP3K5_uc011edj.1_Missense_Mutation_p.E36D|MAP3K5_uc011edk.1_Missense_Mutation_p.E634D	p.E789D	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	17	2728	-	Colorectal(23;0.24)		789			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2367A>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520340	0.44866	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66995	-0.24;-0.24	5.67	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141019	0.64402	D	0.000006	T	0.44371	0.1290	L	0.45470	1.425	0.51012	D	0.999907	B;B	0.12013	0.002;0.005	B;B	0.10450	0.005;0.004	T	0.50329	-0.8841	10	0.44086	T	0.13	.	11.0624	0.47955	0.0:0.0725:0.0:0.9275	.	869;789	Q59GL6;Q99683	.;M3K5_HUMAN	D	789;36;869	ENSP00000351908:E789D;ENSP00000348104:E36D	ENSP00000348104:E36D	E	-	3	2	MAP3K5	136975999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	2.154000	0.67381	0.533000	0.62120	GAA		0.383	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			20	25	0	0	0	0.008871	0	20	25				
UST	10090	broad.mit.edu	37	6	149340274	149340274	+	Splice_Site	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:149340274G>A	ENST00000367463.4	+	6	784		c.e6-1			NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTCTCTTCTAGGATATCAATG	0.403																																							uc003qmg.2		NA																	0				ovary(2)	2						c.e6-1		uronyl-2-sulfotransferase							149.0	139.0	142.0					6																	149340274		2203	4300	6503	SO:0001630	splice_region_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149340274G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.682-1G>A	6.37:g.149340274G>A							p.D228_splice	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	6	978	+		Ovarian(120;0.0907)						B2RCX6	Splice_Site	SNP	ENST00000367463.4	37	c.682_splice	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064797	0.93898	.	.	ENSG00000111962	ENST00000367463	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UST	149381967	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.837000	0.99465	2.824000	0.97209	0.655000	0.94253	.		0.403	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	Intron	22	45	0	0	0	0.00333	0	22	45				
ESR1	2099	broad.mit.edu	37	6	152419935	152419935	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:152419935T>A	ENST00000206249.3	+	8	1984	c.1622T>A	c.(1621-1623)cTg>cAg	p.L541Q	ESR1_ENST00000440973.1_Missense_Mutation_p.L541Q|ESR1_ENST00000406599.1_Missense_Mutation_p.L280Q|ESR1_ENST00000456483.2_Missense_Mutation_p.L429Q|ESR1_ENST00000443427.1_Missense_Mutation_p.L541Q|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.L541Q	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	541	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GACCTGCTGCTGGAGATGCTG	0.577																																							uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1621-1623)CTG>CAG		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						97.0	85.0	89.0					6																	152419935		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152419935T>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1622T>A	6.37:g.152419935T>A	ENSP00000206249:p.Leu541Gln					ESR1_uc010kin.2_Missense_Mutation_p.L541Q|ESR1_uc010kio.2_Missense_Mutation_p.L543Q|ESR1_uc010kip.2_Missense_Mutation_p.L540Q|ESR1_uc003qon.3_Missense_Mutation_p.L541Q|ESR1_uc003qoo.3_Missense_Mutation_p.L541Q|ESR1_uc010kiq.2_Missense_Mutation_p.L139Q|ESR1_uc010kir.2_Missense_Mutation_p.L280Q|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.L126Q|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.L216Q|ESR1_uc011eey.1_3'UTR	p.L541Q	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	1992	+		Ovarian(120;0.0448)	541			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1622T>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915925	0.92178	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.92699	-3.09;-3.09;-2.54;-3.09;-3.09;-0.77	5.31	5.31	0.75309	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.64402	D	0.000001	D	0.95956	0.8683	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.976;0.999;0.999;0.997;0.998;0.999	D	0.96814	0.9599	10	0.87932	D	0	.	15.2681	0.73678	0.0:0.0:0.0:1.0	.	216;106;280;468;540;541;541	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	Q	541;541;429;216;541;541;280;128;469	ENSP00000405330:L541Q;ENSP00000342630:L541Q;ENSP00000415934:L429Q;ENSP00000387500:L541Q;ENSP00000206249:L541Q;ENSP00000384064:L280Q	ENSP00000206249:L541Q	L	+	2	0	ESR1	152461628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.950000	0.87804	2.019000	0.59389	0.533000	0.62120	CTG		0.577	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			19	21	0	0	0	0.001523	0	19	21				
NOX3	50508	broad.mit.edu	37	6	155743903	155743903	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:155743903G>T	ENST00000159060.2	-	10	1335	c.1233C>A	c.(1231-1233)gtC>gtA	p.V411V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	411					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGAAGGGAGTGACTCCGATCC	0.522																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1231-1233)GTC>GTA		NADPH oxidase 3							153.0	145.0	148.0					6																	155743903		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743903G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1233C>A	6.37:g.155743903G>T							p.V411V	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1336	-		Breast(66;0.0183)	411			Helical; (Potential).		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.1233C>A	CCDS5250.1																																																																																				0.522	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			20	73	1	0	6.33239e-15	0.001523	1.07482e-14	20	73				
NOX3	50508	broad.mit.edu	37	6	155750019	155750019	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:155750019G>T	ENST00000159060.2	-	9	1156	c.1054C>A	c.(1054-1056)Cac>Aac	p.H352N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	352	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GCCCGGATGTGCACGCTGAAA	0.637																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1054-1056)CAC>AAC		NADPH oxidase 3							57.0	60.0	59.0					6																	155750019		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750019G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1054C>A	6.37:g.155750019G>T	ENSP00000159060:p.His352Asn						p.H352N	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1157	-		Breast(66;0.0183)	352			Extracellular (Potential).|FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1054C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973697	0.92919	.	.	ENSG00000074771	ENST00000159060	D	0.92699	-3.09	5.78	5.78	0.91487	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000003	D	0.98018	0.9347	H	0.98388	4.22	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.99029	1.0820	10	0.87932	D	0	-20.2982	20.0172	0.97481	0.0:0.0:1.0:0.0	.	352	Q9HBY0	NOX3_HUMAN	N	352	ENSP00000159060:H352N	ENSP00000159060:H352N	H	-	1	0	NOX3	155791711	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.437000	0.97535	2.731000	0.93534	0.557000	0.71058	CAC		0.637	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			22	32	1	0	4.35082e-09	0.001523	6.52963e-09	22	32				
INTS1	26173	broad.mit.edu	37	7	1539894	1539894	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:1539894C>A	ENST00000404767.3	-	4	543	c.458G>T	c.(457-459)cGc>cTc	p.R153L	INTS1_ENST00000493531.1_5'UTR|INTS1_ENST00000389470.4_Missense_Mutation_p.R281L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	153					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCTTGGCGCGGGTGACCTT	0.627																																							uc003skn.2		NA																	0					0						c.(457-459)CGC>CTC		integrator complex subunit 1							56.0	65.0	62.0					7																	1539894		2176	4261	6437	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1539894C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.458G>T	7.37:g.1539894C>A	ENSP00000385722:p.Arg153Leu					INTS1_uc003skq.2_Missense_Mutation_p.R153L	p.R153L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	559	-		Ovarian(82;0.0253)	153					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.458G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241355	0.95272	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.57595	0.39;0.43	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.74087	-0.3778	10	0.72032	D	0.01	.	17.6996	0.88291	0.0:1.0:0.0:0.0	.	281;153	A4D212;Q8N201	.;INT1_HUMAN	L	153;281	ENSP00000385722:R153L;ENSP00000374121:R281L	ENSP00000374121:R281L	R	-	2	0	INTS1	1506420	1.000000	0.71417	0.984000	0.44739	0.933000	0.57130	7.480000	0.81109	2.415000	0.81967	0.643000	0.83706	CGC		0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			4	5	1	0	1.23904e-05	0.000602	1.6642e-05	4	5				
FOXK1	221937	broad.mit.edu	37	7	4798711	4798711	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:4798711G>T	ENST00000328914.4	+	6	1274	c.1274G>T	c.(1273-1275)gGg>gTg	p.G425V	FOXK1_ENST00000446823.1_Missense_Mutation_p.G262V	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACACACCCCGGGCTGATGTCC	0.667																																							uc003snc.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1273-1275)GGG>GTG		forkhead box K1							59.0	66.0	64.0					7																	4798711		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4798711G>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1274G>T	7.37:g.4798711G>T	ENSP00000328720:p.Gly425Val					FOXK1_uc003sna.1_Missense_Mutation_p.G262V	p.G425V	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	6	1284	+		Ovarian(82;0.0175)	425						Missense_Mutation	SNP	ENST00000328914.4	37	c.1274G>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.920024	0.92249	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96491	-3.73;-4.03	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.933	D	0.97938	1.0324	10	0.66056	D	0.02	.	19.2294	0.93831	0.0:0.0:1.0:0.0	.	425;262	P85037;P85037-2	FOXK1_HUMAN;.	V	262;189;425;308	ENSP00000394442:G262V;ENSP00000328720:G425V	ENSP00000328720:G425V	G	+	2	0	FOXK1	4765237	1.000000	0.71417	0.899000	0.35326	0.758000	0.43043	9.860000	0.99555	2.793000	0.96121	0.558000	0.71614	GGG		0.667	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			24	58	1	0	1.1804e-14	0.003954	1.99647e-14	24	58				
AGMO	392636	broad.mit.edu	37	7	15405794	15405794	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:15405794C>T	ENST00000342526.3	-	11	1297	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	376					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAATGGAAGTCAAGGTCAGGA	0.383																																							uc003stb.1		NA																	0					0						c.(1126-1128)TTG>TTA		transmembrane protein 195							47.0	42.0	43.0					7																	15405794		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405794C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1128G>A	7.37:g.15405794C>T							p.L376L	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			11	1298	-			376			Helical; (Potential).		A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1128G>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280423	0.23392	.	.	ENSG00000187546	ENST00000407277	.	.	.	6.07	4.27	0.50696	.	.	.	.	.	T	0.60907	0.2305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59241	-0.7491	4	.	.	.	-4.2751	10.4588	0.44567	0.0:0.8496:0.0:0.1504	.	.	.	.	N	7	.	.	D	-	1	0	AGMO	15372319	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.795000	0.38784	1.567000	0.49668	0.655000	0.94253	GAC		0.383	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		16	10	0	0	0	0.003163	0	16	10				
ITGB8	3696	broad.mit.edu	37	7	20420288	20420288	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:20420288G>T	ENST00000222573.4	+	5	1319		c.e5-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTCCCACACAGTGACTACAAT	0.383																																							uc003suu.2		NA																	0				skin(3)	3						c.e5-1		integrin, beta 8 precursor							93.0	90.0	91.0					7																	20420288		2203	4300	6503	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420288G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.636-1G>T	7.37:g.20420288G>T						ITGB8_uc011jyh.1_Splice_Site_p.S77_splice|ITGB8_uc003sut.2_Splice_Site_p.S212_splice	p.S212_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN			5	1341	+								A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.636_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803878	0.70682	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB8	20386813	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.687000	0.98667	2.885000	0.99019	0.655000	0.94253	.		0.383	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Intron	13	57	1	0	1.5842e-08	0.001855	2.31593e-08	13	57				
BMPER	168667	broad.mit.edu	37	7	34182920	34182920	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:34182920C>G	ENST00000297161.2	+	15	2198	c.1824C>G	c.(1822-1824)gcC>gcG	p.A608A	BMPER_ENST00000426693.1_Silent_p.A608A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	608					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATACCCGGGCCTGCCAGAGAG	0.473																																							uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1822-1824)GCC>GCG		BMP-binding endothelial regulator precursor							110.0	112.0	111.0					7																	34182920		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34182920C>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1824C>G	7.37:g.34182920C>G							p.A608A	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			14	1938	+			608					A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1824C>G	CCDS5442.1																																																																																				0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		11	60	0	0	0	0.008291	0	11	60				
YAE1D1	57002	broad.mit.edu	37	7	39611874	39611874	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:39611874A>G	ENST00000223273.2	+	3	294		c.e3-1		YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1																		ACTTTTGTTCAGTGCTTTGCT	0.308																																							uc003thc.3		NA																	0					0						c.e3-2		hypothetical protein LOC57002							49.0	49.0	49.0					7																	39611874		2203	4300	6503	SO:0001630	splice_region_variant	57002							g.chr7:39611874A>G	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.252-1A>G	7.37:g.39611874A>G							p.S84_splice	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			3	261	+								A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Splice_Site	SNP	ENST00000223273.2	37	c.252_splice	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115374	0.37339	.	.	ENSG00000241127	ENST00000223273	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9654	0.71188	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf36	39578399	1.000000	0.71417	0.986000	0.45419	0.358000	0.29455	6.481000	0.73608	2.281000	0.76405	0.533000	0.62120	.		0.308	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192	Intron	4	19	0	0	0	0.000248	0	4	19				
HECW1	23072	broad.mit.edu	37	7	43519207	43519207	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:43519207A>G	ENST00000395891.2	+	17	3704		c.e17-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTCTGTTCGCAGTCTTTTTTC	0.493																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.e17-2		NEDD4-like ubiquitin-protein ligase 1							143.0	135.0	137.0					7																	43519207		1946	4149	6095	SO:0001630	splice_region_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519207A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3100-1A>G	7.37:g.43519207A>G						HECW1_uc011kbi.1_Splice_Site_p.S1000_splice	p.S1034_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			17	3705	+								A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37	c.3100_splice	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075504	0.55646	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6664	0.77234	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43485732	1.000000	0.71417	0.932000	0.37286	0.702000	0.40608	9.313000	0.96297	2.110000	0.64415	0.379000	0.24179	.		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	Intron	48	20	0	0	0	0.00361	0	48	20				
HECW1	23072	broad.mit.edu	37	7	43548674	43548674	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:43548674G>A	ENST00000395891.2	+	24	4578	c.3973G>A	c.(3973-3975)Gtg>Atg	p.V1325M	HECW1_ENST00000453890.1_Missense_Mutation_p.V1291M|AC011738.4_ENST00000436105.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1325	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACTTACACGGTGCAGATCAG	0.448																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3973-3975)GTG>ATG		NEDD4-like ubiquitin-protein ligase 1							108.0	104.0	105.0					7																	43548674		1912	4116	6028	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43548674G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3973G>A	7.37:g.43548674G>A	ENSP00000379228:p.Val1325Met					HECW1_uc011kbi.1_Missense_Mutation_p.V1291M|uc003tig.1_RNA	p.V1325M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			24	4578	+			1325			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3973G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	32	5.154555	0.94686	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.58210	0.35;0.35	5.92	5.92	0.95590	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72047	-0.4408	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	1291;1325	B4DH42;Q76N89	.;HECW1_HUMAN	M	1325;1291;1325	ENSP00000379228:V1325M;ENSP00000407774:V1291M	ENSP00000265522:V1325M	V	+	1	0	HECW1	43515199	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	7.879000	0.87236	2.811000	0.96726	0.555000	0.69702	GTG		0.448	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		59	11	0	0	0	0.00361	0	59	11				
ABCA13	154664	broad.mit.edu	37	7	48316083	48316083	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:48316083C>A	ENST00000435803.1	+	17	6844	c.6820C>A	c.(6820-6822)Ctt>Att	p.L2274I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2274					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCTTCTCCCTTTTTCTAAA	0.343																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(6820-6822)CTT>ATT		ATP binding cassette, sub-family A (ABC1),							25.0	27.0	26.0					7																	48316083		1803	4053	5856	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48316083C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6820C>A	7.37:g.48316083C>A	ENSP00000411096:p.Leu2274Ile					ABCA13_uc010kyr.2_Missense_Mutation_p.L1777I	p.L2274I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6845	+			2274					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6820C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694499	0.03303	.	.	ENSG00000179869	ENST00000435803	D	0.86432	-2.12	4.68	-2.46	0.06461	.	0.979337	0.08336	N	0.961568	T	0.77525	0.4143	L	0.36672	1.1	0.09310	N	1	B	0.22003	0.063	B	0.16722	0.016	T	0.59386	-0.7464	9	.	.	.	.	6.802	0.23756	0.0:0.3807:0.1259:0.4934	.	2274	Q86UQ4	ABCAD_HUMAN	I	2274	ENSP00000411096:L2274I	.	L	+	1	0	ABCA13	48286629	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.316000	0.19469	-0.393000	0.07739	0.313000	0.20887	CTT		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	24	1	0	7.48243e-07	0.006214	1.05369e-06	9	24				
COBL	23242	broad.mit.edu	37	7	51092955	51092955	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:51092955G>A	ENST00000265136.7	-	12	3784	c.3619C>T	c.(3619-3621)Ccc>Tcc	p.P1207S	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Missense_Mutation_p.P1289S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1207	Poly-Pro.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGGTGGGGGAATGGCTGGT	0.627																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(3619-3621)CCC>TCC		cordon-bleu homolog							17.0	20.0	19.0					7																	51092955		2201	4298	6499	SO:0001583	missense	23242							g.chr7:51092955G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3619C>T	7.37:g.51092955G>A	ENSP00000265136:p.Pro1207Ser					COBL_uc003tps.2_Intron|COBL_uc011kcl.1_Intron|COBL_uc003tpp.3_Missense_Mutation_p.P993S|COBL_uc003tpq.3_Intron|COBL_uc003tpo.3_Missense_Mutation_p.P749S	p.P1207S	NM_015198	NP_056013	O75128	COBL_HUMAN			12	3804	-	Glioma(55;0.08)		1207			Poly-Pro.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3619C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669567	0.47677	.	.	ENSG00000106078	ENST00000265136;ENST00000431948;ENST00000395542	T;T;T	0.15017	2.46;2.47;2.47	5.46	2.4	0.29515	.	0.849050	0.09634	N	0.775883	T	0.34483	0.0899	M	0.63843	1.955	0.09310	N	1	B;D	0.76494	0.079;0.999	B;D	0.68943	0.055;0.961	T	0.16748	-1.0392	10	0.30078	T	0.28	.	8.8029	0.34920	0.2544:0.0:0.7456:0.0	.	1207;749	O75128;O75128-6	COBL_HUMAN;.	S	1207;1092;1289	ENSP00000265136:P1207S;ENSP00000413498:P1092S;ENSP00000378912:P1289S	ENSP00000265136:P1207S	P	-	1	0	COBL	51060449	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	3.650000	0.54424	0.184000	0.20083	0.650000	0.86243	CCC		0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		6	18	0	0	0	0.001168	0	6	18				
POM121L12	285877	broad.mit.edu	37	7	53103817	53103817	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:53103817G>T	ENST00000408890.4	+	1	469	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	151								p.W151C(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGAGCCCCTGGAGATCCCCTG	0.716																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(451-453)TGG>TGT		POM121 membrane glycoprotein-like 12							16.0	19.0	18.0					7																	53103817		1891	4081	5972	SO:0001583	missense	285877							g.chr7:53103817G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.453G>T	7.37:g.53103817G>T	ENSP00000386133:p.Trp151Cys						p.W151C	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	469	+			151					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.453G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	8.107	0.777876	0.16120	.	.	ENSG00000221900	ENST00000408890	T	0.22336	1.96	1.75	-1.43	0.08884	.	.	.	.	.	T	0.11537	0.0281	N	0.11427	0.14	0.09310	N	1	P	0.49253	0.921	P	0.47705	0.555	T	0.12218	-1.0556	9	0.38643	T	0.18	.	2.8015	0.05416	0.3431:0.2475:0.4095:0.0	.	151	Q8N7R1	P1L12_HUMAN	C	151	ENSP00000386133:W151C	ENSP00000386133:W151C	W	+	3	0	POM121L12	53071311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.012000	0.03649	-0.440000	0.07211	-0.300000	0.09419	TGG		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		9	16	1	0	2.17888e-05	0.006214	2.91836e-05	9	16				
FKBP9P1	360132	broad.mit.edu	37	7	55755564	55755564	+	RNA	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:55755564A>T	ENST00000455909.1	-	0	442				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GTCCATCCCCAACACAACTTG	0.507																																							uc010kzl.2		NA																	0					0						c.(328-330)TTG>TAG		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);							110.0	110.0	110.0					7																	55755564		692	1591	2283			360132							g.chr7:55755564A>T																													7.37:g.55755564A>T						FKBP9L_uc010kzk.2_5'UTR|FKBP9L_uc003tqt.2_5'UTR|FKBP9L_uc011kcs.1_5'UTR	p.L110*	NR_003949						4	429	-								B2R7H1	Nonsense_Mutation	SNP	ENST00000455909.1	37	c.329T>A																																																																																					0.507	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			21	62	0	0	0	0.001882	0	21	62				
CD36	948	broad.mit.edu	37	7	80286010	80286010	+	Missense_Mutation	SNP	C	C	T	rs150037612	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:80286010C>T	ENST00000435819.1	+	7	959	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CD36_ENST00000433696.2_Missense_Mutation_p.T92M|CD36_ENST00000309881.7_Missense_Mutation_p.T92M|CD36_ENST00000538969.1_Missense_Mutation_p.T92M|CD36_ENST00000447544.2_Missense_Mutation_p.T92M|CD36_ENST00000544133.1_Missense_Mutation_p.T92M|CD36_ENST00000534394.1_Missense_Mutation_p.T16M|CD36_ENST00000432207.1_Missense_Mutation_p.T92M|CD36_ENST00000394788.3_Missense_Mutation_p.T92M			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	92					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGTCCTTATACGTACAGGTGA	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		16180	0.001		0.0	False		,,,				2504	0.001						uc003uhc.2		NA																	0				ovary(1)	1						c.(274-276)ACG>ATG		CD36 antigen							86.0	79.0	82.0					7																	80286010		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80286010C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.275C>T	7.37:g.80286010C>T	ENSP00000399421:p.Thr92Met					CD36_uc003uhd.3_Missense_Mutation_p.T92M|CD36_uc011kgv.1_Missense_Mutation_p.T16M|CD36_uc003uhe.3_Missense_Mutation_p.T92M|CD36_uc003uhf.3_Missense_Mutation_p.T92M|CD36_uc003uhg.3_Missense_Mutation_p.T92M|CD36_uc003uhh.3_Missense_Mutation_p.T92M	p.T92M	NM_001127444	NP_001120916	P16671	CD36_HUMAN			7	959	+			92			Extracellular (Potential).		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.275C>T	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381611	0.82792	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90853	0.4732	9	.	.	.	-18.4333	18.5997	0.91244	0.0:1.0:0.0:0.0	.	92	P16671	CD36_HUMAN	M	92;92;16;92;92;92;92;92;92;92;92;92;92;92;92	ENSP00000399421:T92M;ENSP00000308165:T92M;ENSP00000431296:T16M;ENSP00000410371:T92M;ENSP00000398760:T92M;ENSP00000409762:T92M;ENSP00000378268:T92M;ENSP00000415743:T92M;ENSP00000416388:T92M;ENSP00000411411:T92M;ENSP00000407690:T92M;ENSP00000392298:T92M;ENSP00000439543:T92M;ENSP00000441956:T92M;ENSP00000401863:T92M	.	T	+	2	0	CD36	80123946	0.997000	0.39634	0.962000	0.40283	0.730000	0.41778	6.670000	0.74467	2.749000	0.94314	0.655000	0.94253	ACG		0.388	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		23	63	0	0	0	0.00278	0	23	63				
HGF	3082	broad.mit.edu	37	7	81388012	81388012	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:81388012G>T	ENST00000222390.5	-	3	589	c.363C>A	c.(361-363)aaC>aaA	p.N121K	HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	121	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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						AGTTACCTTTGTTTTCATAGA	0.338																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(361-363)AAC>AAA		hepatocyte growth factor isoform 1							92.0	91.0	92.0					7																	81388012		2203	4299	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.chr7:81388012G>T		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.363C>A	7.37:g.81388012G>T	ENSP00000222390:p.Asn121Lys					HGF_uc003uhm.2_Missense_Mutation_p.N121K|HGF_uc003uhn.1_Missense_Mutation_p.N121K|HGF_uc003uho.1_Missense_Mutation_p.N121K|HGF_uc003uhp.2_Missense_Mutation_p.N121K	p.N121K	NM_000601	NP_000592	P14210	HGF_HUMAN			3	528	-			121			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.363C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015251	0.07959	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	T;T;T;T;T;T;T;T	0.61392	0.18;0.18;0.18;0.18;0.18;0.18;0.11;0.18	5.16	3.18	0.36537	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.093825	0.64402	N	0.000001	T	0.22781	0.0550	N	0.01454	-0.855	0.38080	D	0.936637	B;B;B;B;B	0.28933	0.035;0.093;0.039;0.228;0.144	B;B;B;B;B	0.29353	0.021;0.034;0.026;0.091;0.101	T	0.33523	-0.9865	10	0.02654	T	1	.	8.7558	0.34645	0.0:0.3752:0.4981:0.1267	.	156;121;121;121;121	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	K	121;121;121;121;121;121;121;18;121	ENSP00000222390:N121K;ENSP00000391238:N121K;ENSP00000389854:N121K;ENSP00000408270:N121K;ENSP00000413829:N121K;ENSP00000346164:N121K;ENSP00000395468:N18K;ENSP00000396307:N121K	ENSP00000222390:N121K	N	-	3	2	HGF	81225948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.042000	0.30303	1.130000	0.42092	0.467000	0.42956	AAC		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		37	34	1	0	1.90571e-15	0.004289	3.29887e-15	37	34				
HGF	3082	broad.mit.edu	37	7	81392114	81392114	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:81392114G>T	ENST00000222390.5	-	2	389	c.163C>A	c.(163-165)Cca>Aca	p.P55T	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000423064.2_Missense_Mutation_p.P55T|HGF_ENST00000354224.6_Missense_Mutation_p.P55T|HGF_ENST00000453411.1_Missense_Mutation_p.P55T|HGF_ENST00000444829.2_Missense_Mutation_p.P55T|HGF_ENST00000457544.2_Missense_Mutation_p.P55T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	55	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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						TTCAGTGCTGGATCTATTTTG	0.308																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(163-165)CCA>ACA		hepatocyte growth factor isoform 1							192.0	172.0	179.0					7																	81392114		2203	4299	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.chr7:81392114G>T		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.163C>A	7.37:g.81392114G>T	ENSP00000222390:p.Pro55Thr					HGF_uc003uhm.2_Missense_Mutation_p.P55T|HGF_uc003uhn.1_Missense_Mutation_p.P55T|HGF_uc003uho.1_Missense_Mutation_p.P55T|HGF_uc003uhp.2_Missense_Mutation_p.P55T	p.P55T	NM_000601	NP_000592	P14210	HGF_HUMAN			2	328	-			55			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.163C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	7.113	0.576368	0.13686	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.72	3.6	0.41247	PAN-1 domain (1);Apple-like (2);	0.657724	0.16138	N	0.227869	T	0.44561	0.1299	L	0.29908	0.895	0.32726	N	0.509672	B;B;B;B;B	0.19200	0.034;0.008;0.008;0.001;0.001	B;B;B;B;B	0.22386	0.039;0.012;0.007;0.003;0.005	T	0.46470	-0.9189	10	0.18710	T	0.47	.	5.8479	0.18675	0.1741:0.0:0.5715:0.2544	.	90;55;55;55;55	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	T	55	ENSP00000222390:P55T;ENSP00000391238:P55T;ENSP00000389854:P55T;ENSP00000408270:P55T;ENSP00000413829:P55T;ENSP00000346164:P55T;ENSP00000396307:P55T;ENSP00000388592:P55T	ENSP00000222390:P55T	P	-	1	0	HGF	81230050	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.766000	0.38491	1.417000	0.47077	0.655000	0.94253	CCA		0.308	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		19	42	1	0	2.4624e-09	0.008871	3.72467e-09	19	42				
ZAN	7455	broad.mit.edu	37	7	100385716	100385716	+	RNA	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:100385716C>T	ENST00000348028.3	+	0	7349				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTACCACCGTCTACGGCTATA	0.607																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7183-7185)GTC>GTT		zonadhesin isoform 3							57.0	54.0	55.0					7																	100385716		1951	4134	6085			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385716C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385716C>T						ZAN_uc003uwk.2_Silent_p.V2395V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.V445V	p.V2395V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		39	7350	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2395			VWFD 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.7185C>T																																																																																					0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		49	5	0	0	0	0.00361	0	49	5				
Unknown	0	broad.mit.edu	37	7	101988908	101988908	+	IGR	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:101988908G>T								Y_RNA (11526 upstream) : PRKRIP1 (15435 downstream)																							CCTGGCCCTCGGGTTCGTGGA	0.572																																							uc011kkp.1		NA																	0					0						c.(964-966)CCG>CAG		speedy homolog E6							1.0	1.0	1.0					7																	101988908		62	213	275	SO:0001628	intergenic_variant	729597							g.chr7:101988908G>T																													7.37:g.101988908G>T						SPDYE6_uc003uzb.2_Missense_Mutation_p.P178Q	p.P322Q	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			6	1386	-			322			Arg-rich.			Missense_Mutation	SNP		37	c.965C>A																																																																																				0	0.572									83	391	1	0	3.19434e-75	0.00361	7.01001e-75	83	391				
Unknown	0	broad.mit.edu	37	7	101988946	101988946	+	IGR	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:101988946G>A								Y_RNA (11564 upstream) : PRKRIP1 (15397 downstream)																							GACGCTTACGGAGCAAGGGTA	0.572																																							uc011kkp.1		NA																	0					0						c.(925-927)CTC>CTT		speedy homolog E6							50.0	52.0	52.0					7																	101988946		96	587	683	SO:0001628	intergenic_variant	729597							g.chr7:101988946G>A																													7.37:g.101988946G>A						SPDYE6_uc003uzb.2_Silent_p.L165L	p.L309L	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			6	1348	-			309			Arg-rich.			Silent	SNP		37	c.927C>T																																																																																				0	0.572									83	538	0	0	0	0.00361	0	83	538				
C7orf60	154743	broad.mit.edu	37	7	112555399	112555399	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:112555399T>G	ENST00000297145.4	-	2	429	c.264A>C	c.(262-264)aaA>aaC	p.K88N	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	88							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CCTCACAAGTTTTTGCCCAAT	0.348																																							uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(262-264)AAA>AAC		hypothetical protein LOC154743							167.0	156.0	160.0					7																	112555399		1874	4116	5990	SO:0001583	missense	154743							g.chr7:112555399T>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.264A>C	7.37:g.112555399T>G	ENSP00000297145:p.Lys88Asn					C7orf60_uc011kms.1_Missense_Mutation_p.K114N	p.K88N	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			2	391	-			88					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.264A>C	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.379175	0.42207	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.45	5.45	0.79879	.	0.090549	0.85682	D	0.000000	T	0.48390	0.1497	L	0.41961	1.31	0.45580	D	0.998527	B;B	0.21071	0.051;0.016	B;B	0.14023	0.01;0.007	T	0.48031	-0.9070	9	0.54805	T	0.06	-15.429	10.2113	0.43143	0.0:0.0744:0.0:0.9256	.	35;88	B4DST1;Q1RMZ1	.;CG060_HUMAN	N	88;70;35	.	ENSP00000297145:K88N	K	-	3	2	C7orf60	112342635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.845000	0.39279	2.189000	0.69895	0.482000	0.46254	AAA		0.348	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		81	11	0	0	0	0.00361	0	81	11				
LRRC4	64101	broad.mit.edu	37	7	127670199	127670199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:127670199G>T	ENST00000249363.3	-	2	752	c.495C>A	c.(493-495)taC>taA	p.Y165*	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	165					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTTGAAGGCGTAAGAGGGGA	0.572																																							uc003vmk.2		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(493-495)TAC>TAA		leucine rich repeat containing 4 precursor							66.0	71.0	70.0					7																	127670199		2203	4300	6503	SO:0001587	stop_gained	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670199G>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.495C>A	7.37:g.127670199G>T	ENSP00000249363:p.Tyr165*					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.Y165*	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	632	-			165			LRR 4.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Nonsense_Mutation	SNP	ENST00000249363.3	37	c.495C>A	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660168	0.67586	.	.	ENSG00000128594	ENST00000249363	.	.	.	4.56	-4.39	0.03611	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9318	0.47222	0.4958:0.0:0.5042:0.0	.	.	.	.	X	165	.	ENSP00000249363:Y165X	Y	-	3	2	LRRC4	127457435	0.879000	0.30193	0.952000	0.39060	0.994000	0.84299	0.082000	0.14847	-1.024000	0.03338	-0.345000	0.07892	TAC		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		96	11	1	0	8.98033e-41	0.00361	1.90957e-40	96	11				
PLXNA4	91584	broad.mit.edu	37	7	131831332	131831332	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:131831332C>T	ENST00000359827.3	-	28	5954	c.4992G>A	c.(4990-4992)aaG>aaA	p.K1664K	PLXNA4_ENST00000321063.4_Silent_p.K1664K			Q9HCM2	PLXA4_HUMAN	plexin A4	1664					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCCCCTCCTTCTGGTCTC	0.582																																							uc003vra.3		NA																	0				ovary(1)	1						c.(4990-4992)AAG>AAA		plexin A4 isoform 1							196.0	211.0	206.0					7																	131831332		2182	4297	6479	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831332C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4992G>A	7.37:g.131831332C>T						PLXNA4_uc003vqz.3_5'Flank	p.K1664K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			28	5221	-			1664			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4992G>A	CCDS43646.1																																																																																				0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		128	167	0	0	0	0.00361	0	128	167				
STRA8	346673	broad.mit.edu	37	7	134931195	134931196	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:134931195_134931196TG>AT	ENST00000275764.3	+	6	473_474	c.473_474TG>AT	c.(472-474)aTG>aAT	p.M158N		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AAACAGACGATGGACCTTCTGA	0.594																																							uc011kpx.1		NA																	0					0						c.(472-474)ATG>AAT		STRA8																																				SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134931195_134931196TG>AT	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	Exception_encountered	7.37:g.134931195_134931196delinsAT	ENSP00000275764:p.Met158Asn						p.M158N	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			6	473_474	+			158						Missense_Mutation	DNP	ENST00000275764.3	37	c.473_474TG>AT	CCDS5839.1																																																																																				0.594	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		9	4	0	0	0	0.004672	0	9	4				
DENND2A	27147	broad.mit.edu	37	7	140269479	140269479	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:140269479C>G	ENST00000275884.6	-	6	1923	c.1506G>C	c.(1504-1506)agG>agC	p.R502S	DENND2A_ENST00000537639.1_Missense_Mutation_p.R502S|DENND2A_ENST00000496613.1_Missense_Mutation_p.R502S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R502S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	502					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACTGGGACAGCCTCTTCACCC	0.537																																							uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(1504-1506)AGG>AGC		DENN/MADD domain containing 2A							153.0	156.0	155.0					7																	140269479		1942	4145	6087	SO:0001583	missense	27147							g.chr7:140269479C>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1506G>C	7.37:g.140269479C>G	ENSP00000275884:p.Arg502Ser					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R502S|DENND2A_uc003vvw.2_Missense_Mutation_p.R502S|DENND2A_uc003vvx.2_Missense_Mutation_p.R502S	p.R502S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			5	1651	-	Melanoma(164;0.00956)		502					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1506G>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979052	0.53827	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10477	3.56;3.56;3.56;2.87	4.74	3.86	0.44501	.	0.124032	0.53938	D	0.000044	T	0.19327	0.0464	L	0.43152	1.355	0.34136	D	0.665784	D;B	0.61080	0.989;0.066	D;B	0.63793	0.918;0.046	T	0.18178	-1.0345	10	0.33940	T	0.23	-24.7038	8.9547	0.35809	0.0:0.7623:0.0:0.2377	.	502;502	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	502	ENSP00000275884:R502S;ENSP00000442245:R502S;ENSP00000419654:R502S;ENSP00000419464:R502S	ENSP00000275884:R502S	R	-	3	2	DENND2A	139915948	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.264000	0.43302	0.988000	0.38734	0.462000	0.41574	AGG		0.537	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		133	26	0	0	0	0.00361	0	133	26				
PRSS58	136541	broad.mit.edu	37	7	141954941	141954941	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:141954941A>T	ENST00000552471.1	-	3	689	c.370T>A	c.(370-372)Tac>Aac	p.Y124N	PRSS58_ENST00000547058.2_Missense_Mutation_p.Y124N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	124	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATAGTTTGGTAGGGCAGGTTG	0.403																																							uc003vxb.2		NA																	0					0						c.(370-372)TAC>AAC		trypsin X3 precursor							256.0	232.0	240.0					7																	141954941		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954941A>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.370T>A	7.37:g.141954941A>T	ENSP00000446916:p.Tyr124Asn					TRYX3_uc003vxc.3_Missense_Mutation_p.Y124N	p.Y124N	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			3	690	-	Melanoma(164;0.0272)		124			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.370T>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736491	0.30774	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88201	-2.35;-2.35	5.04	-10.1	0.00402	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.63307	0.2500	N	0.01493	-0.835	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.57376	-0.7822	9	0.48119	T	0.1	.	3.334	0.07094	0.3286:0.083:0.44:0.1484	.	124	Q8IYP2	PRS58_HUMAN	N	124	ENSP00000447588:Y124N;ENSP00000446916:Y124N	ENSP00000307206:Y124N	Y	-	1	0	PRSS58	141601418	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.180000	0.09754	-1.960000	0.01017	0.533000	0.62120	TAC		0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		160	19	0	0	0	0.00361	0	160	19				
KEL	3792	broad.mit.edu	37	7	142639611	142639611	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:142639611G>A	ENST00000355265.2	-	18	2421	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	649					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTCTTGCTGTATGCCTGGG	0.587																																							uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1945-1947)TAC>TAT		Kell blood group, metallo-endopeptidase							55.0	37.0	43.0					7																	142639611		2203	4298	6501	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639611G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1947C>T	7.37:g.142639611G>A							p.Y649Y	NM_000420	NP_000411	P23276	KELL_HUMAN			18	2157	-	Melanoma(164;0.059)		649			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1947C>T	CCDS34766.1																																																																																				0.587	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		17	3	0	0	0	0.007413	0	17	3				
OR2A25	392138	broad.mit.edu	37	7	143771704	143771704	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:143771704A>G	ENST00000408898.2	+	1	430	c.392A>G	c.(391-393)tAt>tGt	p.Y131C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTCTCCGATATTCTACCATC	0.463																																							uc011ktx.1		NA																	0					0						c.(391-393)TAT>TGT		olfactory receptor, family 2, subfamily A,							145.0	147.0	146.0					7																	143771704		2198	4300	6498	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771704A>G		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.392A>G	7.37:g.143771704A>G	ENSP00000386167:p.Tyr131Cys						p.Y131C	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	392	+	Melanoma(164;0.0783)		131			Cytoplasmic (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.392A>G	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918313	0.52546	.	.	ENSG00000221933	ENST00000408898	T	0.33865	1.39	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70055	0.3180	H	0.96080	3.765	0.45867	D	0.998728	D	0.89917	1.0	D	0.91635	0.999	T	0.79470	-0.1790	9	0.87932	D	0	-8.5586	11.9577	0.52991	1.0:0.0:0.0:0.0	.	131	A4D2G3	O2A25_HUMAN	C	131	ENSP00000386167:Y131C	ENSP00000386167:Y131C	Y	+	2	0	OR2A25	143402637	1.000000	0.71417	0.626000	0.29213	0.455000	0.32408	8.900000	0.92551	1.919000	0.55581	0.460000	0.39030	TAT		0.463	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			145	23	0	0	0	0.00361	0	145	23				
SSPO	23145	broad.mit.edu	37	7	149482053	149482053	+	RNA	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:149482053C>T	ENST00000378016.2	+	0	2841							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)			ATCACTCCTGCCCTGCAGGCA	0.622																																							uc010lpk.2		NA																	0					0						c.(2839-2841)TGC>TGT		SCO-spondin precursor							30.0	33.0	32.0					7																	149482053		2040	4193	6233			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482053C>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.149482053C>T						SSPO_uc010lpl.1_Missense_Mutation_p.A283V	p.C947C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		20	2841	+	Melanoma(164;0.165)|Ovarian(565;0.177)		947					Q76B61	Silent	SNP	ENST00000378016.2	37	c.2841C>T																																																																																					0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				27	6	0	0	0	0.004656	0	27	6				
KCNH2	3757	broad.mit.edu	37	7	150648710	150648710	+	Missense_Mutation	SNP	C	C	G	rs376319070		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:150648710C>G	ENST00000262186.5	-	7	2172	c.1771G>C	c.(1771-1773)Gac>Cac	p.D591H	KCNH2_ENST00000330883.4_Missense_Mutation_p.D251H|KCNH2_ENST00000392968.2_Missense_Mutation_p.D495H|KCNH2_ENST00000430723.3_Missense_Mutation_p.D591H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	591					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCTATCTGGTCGCCCAGGTTG	0.612																																					GBM(137;110 1844 13671 20123 45161)	GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(1771-1773)GAC>CAC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						90.0	72.0	78.0					7																	150648710		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648710C>G	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1771G>C	7.37:g.150648710C>G	ENSP00000262186:p.Asp591His					KCNH2_uc003wib.2_Missense_Mutation_p.D251H|KCNH2_uc011kux.1_Missense_Mutation_p.D495H|KCNH2_uc003wid.2_Missense_Mutation_p.D251H|KCNH2_uc003wie.2_Missense_Mutation_p.D591H	p.D591H	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1784	-	all_neural(206;0.219)		591			Extracellular (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1771G>C	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854874	0.51376	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.99287	-4.89;-4.97;-5.2;-5.69	4.33	3.37	0.38596	Ion transport (1);	0.352028	0.28724	N	0.014349	D	0.98814	0.9600	M	0.65677	2.01	0.40507	D	0.980709	P;D;P;P;B	0.63046	0.794;0.992;0.936;0.633;0.004	P;D;P;P;B	0.66084	0.776;0.941;0.879;0.749;0.008	D	0.98278	1.0507	10	0.42905	T	0.14	.	5.3317	0.15936	0.0:0.6774:0.2105:0.1121	.	495;591;251;591;251	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	H	251;495;591;251;591	ENSP00000328531:D251H;ENSP00000376695:D495H;ENSP00000262186:D591H;ENSP00000387657:D591H	ENSP00000262186:D591H	D	-	1	0	KCNH2	150279643	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.825000	0.62708	1.965000	0.57142	0.313000	0.20887	GAC		0.612	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		73	10	0	0	0	0.00361	0	73	10				
KMT2C	58508	broad.mit.edu	37	7	151947003	151947003	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:151947003G>A	ENST00000262189.6	-	13	1989	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H591Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	591					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)										TCTGAGGGATGACTCTTCTGT	0.368																																						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.(1771-1773)CAT>TAT		myeloid/lymphoid or mixed-lineage leukemia 3							154.0	125.0	135.0					7																	151947003		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.chr7:151947003G>A	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.1771C>T	7.37:g.151947003G>A	ENSP00000262189:p.His591Tyr						p.H591Y	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)	13	1990	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	591					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1771C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007104	0.19199	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.67;-1.67	5.1	-10.2	0.00374	.	1.069190	0.07363	N	0.884383	T	0.64472	0.2601	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.52837	-0.8522	10	0.51188	T	0.08	.	5.5775	0.17231	0.0971:0.2225:0.5179:0.1625	.	591	Q8NEZ4	MLL3_HUMAN	Y	591	ENSP00000262189:H591Y;ENSP00000347325:H591Y	ENSP00000262189:H591Y	H	-	1	0	MLL3	151577936	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-2.164000	0.01275	-2.396000	0.00582	-0.271000	0.10264	CAT		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			14	52	0	0	0	0.00245	0	14	52				
RP1L1	94137	broad.mit.edu	37	8	10465352	10465352	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10465352C>G	ENST00000382483.3	-	4	6479	c.6256G>C	c.(6256-6258)Gat>Cat	p.D2086H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2166	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCTACATCTTCT	0.632																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6256-6258)GAT>CAT		retinitis pigmentosa 1-like 1							133.0	148.0	143.0					8																	10465352		2005	4153	6158	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465352C>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6256G>C	8.37:g.10465352C>G	ENSP00000371923:p.Asp2086His						p.D2086H	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6485	-			2086					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6256G>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	6.977	0.550213	0.13374	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.37	1.37	0.22104	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.31100	0.308	B	0.27500	0.08	T	0.40346	-0.9568	9	0.54805	T	0.06	.	8.3619	0.32363	0.0:1.0:0.0:0.0	.	2086	A6NKC6	.	H	2086	ENSP00000371923:D2086H	ENSP00000371923:D2086H	D	-	1	0	RP1L1	10502762	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.180000	0.09754	0.650000	0.30769	0.484000	0.47621	GAT		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			57	119	0	0	0	0.00361	0	57	119				
RP1L1	94137	broad.mit.edu	37	8	10465782	10465782	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10465782C>A	ENST00000382483.3	-	4	6049	c.5826G>T	c.(5824-5826)gaG>gaT	p.E1942D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2022	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].		Missing.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTTCTGCCTCTTGGGCCT	0.602																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5824-5826)GAG>GAT		retinitis pigmentosa 1-like 1							124.0	140.0	134.0					8																	10465782		2050	4187	6237	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465782C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5826G>T	8.37:g.10465782C>A	ENSP00000371923:p.Glu1942Asp						p.E1942D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6055	-			1942					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5826G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079065	0.07141	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.24	-0.382	0.12481	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.46303	-0.9201	9	0.23302	T	0.38	.	7.4564	0.27270	0.0:0.7281:0.2719:0.0	.	1942	A6NKC6	.	D	1942	ENSP00000371923:E1942D	ENSP00000371923:E1942D	E	-	3	2	RP1L1	10503192	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-4.944000	0.00167	0.535000	0.28714	0.305000	0.20034	GAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			79	85	1	0	1.91123e-38	0.00361	4.04606e-38	79	85				
RP1L1	94137	broad.mit.edu	37	8	10467877	10467877	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10467877T>A	ENST00000382483.3	-	4	3954	c.3731A>T	c.(3730-3732)tAt>tTt	p.Y1244F		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1244					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGCTCTCATAAGTTCTTGA	0.562																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3730-3732)TAT>TTT		retinitis pigmentosa 1-like 1							54.0	57.0	56.0					8																	10467877		1960	4143	6103	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467877T>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3731A>T	8.37:g.10467877T>A	ENSP00000371923:p.Tyr1244Phe						p.Y1244F	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3960	-			1244					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3731A>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.104317	0.00356	.	.	ENSG00000183638	ENST00000382483	T	0.04015	3.73	4.23	1.29	0.21616	.	0.918749	0.08844	N	0.885510	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50021	-0.8876	10	0.15066	T	0.55	0.6311	3.6533	0.08212	0.257:0.0:0.4498:0.2932	.	1244	A6NKC6	.	F	1244	ENSP00000371923:Y1244F	ENSP00000371923:Y1244F	Y	-	2	0	RP1L1	10505287	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.087000	0.12528	-0.217000	0.12591	TAT		0.562	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			25	37	0	0	0	0.00333	0	25	37				
RP1L1	94137	broad.mit.edu	37	8	10469061	10469061	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10469061A>G	ENST00000382483.3	-	4	2770	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	849					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTACCTGCCACACAGCCAGC	0.736																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2545-2547)TGT>TGC		retinitis pigmentosa 1-like 1							7.0	9.0	8.0					8																	10469061		1849	4026	5875	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469061A>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2547T>C	8.37:g.10469061A>G							p.C849C	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2776	-			849					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2547T>C	CCDS43708.1																																																																																				0.736	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	2	0	0	0	0.000602	0	5	2				
RP1L1	94137	broad.mit.edu	37	8	10469837	10469837	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10469837C>A	ENST00000382483.3	-	4	1994	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	591					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCGTCTCTGCCTGCAGGTCG	0.642																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1771-1773)GCA>TCA		retinitis pigmentosa 1-like 1							71.0	81.0	78.0					8																	10469837		2085	4211	6296	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469837C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1771G>T	8.37:g.10469837C>A	ENSP00000371923:p.Ala591Ser						p.A591S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2000	-			591					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1771G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135793	0.37728	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.15	2.26	0.28386	.	0.766695	0.10691	N	0.645239	T	0.03263	0.0095	N	0.24115	0.695	0.09310	N	1	P	0.43477	0.808	B	0.36418	0.224	T	0.44513	-0.9323	10	0.44086	T	0.13	-0.4665	5.4908	0.16774	0.0:0.6788:0.2056:0.1156	.	591	A6NKC6	.	S	591	ENSP00000371923:A591S	ENSP00000371923:A591S	A	-	1	0	RP1L1	10507247	0.000000	0.05858	0.713000	0.30519	0.275000	0.26752	-0.549000	0.06041	0.305000	0.22832	0.455000	0.32223	GCA		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			13	92	1	0	0.000151284	0.001855	0.000197659	13	92				
XKR6	286046	broad.mit.edu	37	8	10755777	10755777	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10755777C>A	ENST00000416569.2	-	3	1637	c.1611G>T	c.(1609-1611)cgG>cgT	p.R537R	XKR6_ENST00000304437.2_Silent_p.R258R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	537						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGGGTCCCCCGGTACCCAG	0.617																																							uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(1609-1611)CGG>CGT		XK, Kell blood group complex subunit-related							46.0	37.0	40.0					8																	10755777		2202	4298	6500	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755777C>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1611G>T	8.37:g.10755777C>A							p.R537R	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1638	-			537					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1611G>T	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038846	0.07497	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.64371	0.2592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62407	-0.6861	4	.	.	.	-20.2798	12.8093	0.57631	0.0:0.8357:0.1643:0.0	.	.	.	.	V	314	.	.	G	-	2	0	XKR6	10793187	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.206000	0.32321	2.479000	0.83701	0.561000	0.74099	GGG		0.617	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		11	15	1	0	0.000978159	0.000978	0.00124741	11	15				
MTMR9	66036	broad.mit.edu	37	8	11174306	11174306	+	Missense_Mutation	SNP	G	G	T	rs149021500	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:11174306G>T	ENST00000221086.3	+	8	1711	c.1238G>T	c.(1237-1239)tGt>tTt	p.C413F	MTMR9_ENST00000526292.1_Missense_Mutation_p.C328F|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	413	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CAGTTTCCCTGTTCTTTTGAG	0.448																																							uc003wtm.2		NA																	0					0						c.(1237-1239)TGT>TTT		myotubularin related protein 9							146.0	126.0	133.0					8																	11174306		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11174306G>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1238G>T	8.37:g.11174306G>T	ENSP00000221086:p.Cys413Phe					MTMR9_uc010lrx.2_Missense_Mutation_p.C306F|MTMR9_uc011kxa.1_Missense_Mutation_p.C328F|uc003wtn.1_RNA	p.C413F	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	8	1636	+			413			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.1238G>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592335	0.46214	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.93076	-3.16;-3.16	4.87	4.87	0.63330	Myotubularin phosphatase domain (1);	0.089199	0.85682	D	0.000000	D	0.90092	0.6905	L	0.47716	1.5	0.80722	D	1	B	0.20164	0.042	B	0.13407	0.009	D	0.86223	0.1632	10	0.17369	T	0.5	.	17.156	0.86791	0.0:0.0:1.0:0.0	.	413	Q96QG7	MTMR9_HUMAN	F	413;328	ENSP00000221086:C413F;ENSP00000433239:C328F	ENSP00000221086:C413F	C	+	2	0	MTMR9	11211716	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	9.428000	0.97476	2.540000	0.85666	0.591000	0.81541	TGT		0.448	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		22	54	1	0	1.55795e-14	0.001882	2.62118e-14	22	54				
FDFT1	2222	broad.mit.edu	37	8	11687842	11687842	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:11687842C>G	ENST00000220584.4	+	6	1014	c.792C>G	c.(790-792)acC>acG	p.T264T	FDFT1_ENST00000528643.1_Silent_p.T179T|FDFT1_ENST00000443614.2_Silent_p.T221T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528812.1_Silent_p.T200T|FDFT1_ENST00000525900.1_Silent_p.T257T|FDFT1_ENST00000525777.1_Silent_p.T179T|FDFT1_ENST00000530664.1_Silent_p.T200T|FDFT1_ENST00000538689.1_Silent_p.T153T	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	264					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		AACTTATAACCAATGCACTGC	0.463																																							uc003wui.2		NA																	0					0						c.(790-792)ACC>ACG		squalene synthase							206.0	183.0	191.0					8																	11687842		2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11687842C>G	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.792C>G	8.37:g.11687842C>G						FDFT1_uc003wuh.2_Silent_p.T200T|FDFT1_uc010lsa.1_Silent_p.T179T|FDFT1_uc011kxe.1_Silent_p.T200T|FDFT1_uc011kxf.1_Silent_p.T221T|FDFT1_uc011kxg.1_Silent_p.T97T|FDFT1_uc003wuj.2_Silent_p.T257T|FDFT1_uc010lsb.2_Silent_p.T200T|FDFT1_uc011kxh.1_Silent_p.T200T|FDFT1_uc011kxi.1_Intron|FDFT1_uc011kxj.1_Silent_p.T200T|FDFT1_uc003wuk.2_Silent_p.T323T|FDFT1_uc011kxk.1_Silent_p.T179T	p.T264T	NM_004462	NP_004453	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	6	944	+	all_epithelial(15;0.234)		264					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.792C>G	CCDS5985.1																																																																																				0.463	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			29	62	0	0	0	0.001786	0	29	62				
DLC1	10395	broad.mit.edu	37	8	12957737	12957737	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:12957737C>A	ENST00000276297.4	-	9	2518	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	DLC1_ENST00000520226.1_Missense_Mutation_p.M192I|DLC1_ENST00000512044.2_Missense_Mutation_p.M300I|DLC1_ENST00000358919.2_Missense_Mutation_p.M266I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	703					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCTCATCCATCCCCTCTT	0.562																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2107-2109)ATG>ATT		deleted in liver cancer 1 isoform 1							82.0	74.0	77.0					8																	12957737		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957737C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2109G>T	8.37:g.12957737C>A	ENSP00000276297:p.Met703Ile					DLC1_uc003wwk.1_Missense_Mutation_p.M266I|DLC1_uc003wwl.1_Missense_Mutation_p.M300I|DLC1_uc011kxx.1_Missense_Mutation_p.M192I	p.M703I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2553	-			703					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2109G>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	3.565	-0.088851	0.07097	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05319	3.71;3.47;3.47;3.46	4.84	3.97	0.46021	.	0.648354	0.16472	N	0.212938	T	0.06645	0.0170	L	0.44542	1.39	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.22836	-1.0205	10	0.21014	T	0.42	.	10.9511	0.47330	0.0:0.8489:0.0:0.1511	.	703;300;266	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	703;266;300;192	ENSP00000276297:M703I;ENSP00000351797:M266I;ENSP00000422595:M300I;ENSP00000428028:M192I	ENSP00000276297:M703I	M	-	3	0	DLC1	13002108	0.458000	0.25760	0.987000	0.45799	0.250000	0.25880	-0.164000	0.09983	1.413000	0.46997	-0.137000	0.14449	ATG		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		22	32	1	0	1.87028e-06	0.001882	2.59566e-06	22	32				
SLC7A2	6542	broad.mit.edu	37	8	17401089	17401089	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:17401089A>C	ENST00000494857.1	+	3	459	c.241A>C	c.(241-243)Atg>Ctg	p.M81L	SLC7A2_ENST00000398090.3_Missense_Mutation_p.M121L|SLC7A2_ENST00000470360.1_Missense_Mutation_p.M121L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M81L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M121L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	81					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCTTCAGTGATGGCTGGCCT	0.607																																							uc011kyc.1		NA																	0				ovary(2)|skin(1)	3						c.(241-243)ATG>CTG		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						68.0	58.0	62.0					8																	17401089		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17401089A>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.241A>C	8.37:g.17401089A>C	ENSP00000419140:p.Met81Leu					SLC7A2_uc011kyd.1_Missense_Mutation_p.M121L|SLC7A2_uc011kye.1_Missense_Mutation_p.M121L|SLC7A2_uc011kyf.1_Missense_Mutation_p.M81L	p.M81L	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	410	+			81			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.241A>C	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	A	2.655	-0.281083	0.05642	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	N	0.00204	-1.855	0.58432	D	0.999999	B;B;B	0.12630	0.006;0.005;0.002	B;B;B	0.13407	0.007;0.002;0.009	T	0.70303	-0.4909	10	0.02654	T	1	.	16.1741	0.81840	1.0:0.0:0.0:0.0	.	121;121;81	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	L	81;81;121;121;121	ENSP00000419140:M81L;ENSP00000430464:M81L;ENSP00000419873:M121L;ENSP00000004531:M121L;ENSP00000381164:M121L	ENSP00000004531:M121L	M	+	1	0	SLC7A2	17445468	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	6.053000	0.71089	2.285000	0.76669	0.533000	0.62120	ATG		0.607	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		12	26	0	0	0	0.000978	0	12	26				
LPL	4023	broad.mit.edu	37	8	19813423	19813423	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:19813423G>A	ENST00000311322.8	+	6	1317	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	283					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GTTGAATGAAGAAAATCCAAG	0.468																																							uc003wzk.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(847-849)GAA>AAA		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						97.0	97.0	97.0					8																	19813423		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19813423G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.847G>A	8.37:g.19813423G>A	ENSP00000309757:p.Glu283Lys						p.E283K	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	6	1217	+			283					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.847G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184427	0.78677	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.91686	-2.89	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.137404	0.64402	D	0.000004	D	0.88851	0.6549	L	0.38953	1.18	0.40373	D	0.979366	B	0.26445	0.149	B	0.29440	0.102	D	0.84670	0.0711	8	.	.	.	-18.6753	18.2083	0.89861	0.0:0.0:1.0:0.0	.	283	P06858	LIPL_HUMAN	K	283;207;269	ENSP00000309757:E283K	.	E	+	1	0	LPL	19857703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.326000	0.72905	2.902000	0.99343	0.650000	0.86243	GAA		0.468	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			28	33	0	0	0	0.00632	0	28	33				
UNC5D	137970	broad.mit.edu	37	8	35608159	35608159	+	Silent	SNP	G	G	C	rs145027081		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:35608159G>C	ENST00000404895.2	+	13	2323	c.1995G>C	c.(1993-1995)gcG>gcC	p.A665A	UNC5D_ENST00000416672.1_Silent_p.A670A|UNC5D_ENST00000449677.1_Silent_p.A241A|UNC5D_ENST00000287272.2_Silent_p.A596A|UNC5D_ENST00000420357.1_Silent_p.A598A|UNC5D_ENST00000453357.2_Silent_p.A660A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	665					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCCTTTGCGTGTCATGTGC	0.488																																							uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1993-1995)GCG>GCC		unc-5 homolog D precursor		A		0,4406		0,0,2203	248.0	208.0	222.0		1995	-11.8	0.1	8	dbSNP_134	222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC5D	NM_080872.2		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		665/954	35608159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608159G>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1995G>C	8.37:g.35608159G>C						UNC5D_uc003xjs.1_Silent_p.A660A|UNC5D_uc003xju.1_Silent_p.A241A	p.A665A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2323	+			665			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1995G>C	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			31	67	0	0	0	0.002445	0	31	67				
ANK1	286	broad.mit.edu	37	8	41546073	41546073	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:41546073G>T	ENST00000347528.4	-	34	4222	c.4139C>A	c.(4138-4140)aCg>aAg	p.T1380K	ANK1_ENST00000396945.1_Missense_Mutation_p.T1380K|ANK1_ENST00000265709.8_Missense_Mutation_p.T1421K|ANK1_ENST00000379758.2_Missense_Mutation_p.T1380K|ANK1_ENST00000289734.7_Missense_Mutation_p.T1380K|ANK1_ENST00000396942.1_Missense_Mutation_p.T1380K|ANK1_ENST00000352337.4_Missense_Mutation_p.T1380K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1380					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1380M(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCAGGGGCGTCGGGGTCCT	0.567																																							uc003xok.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4138-4140)ACG>AAG		ankyrin 1 isoform 1							127.0	97.0	107.0					8																	41546073		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41546073G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4139C>A	8.37:g.41546073G>T	ENSP00000339620:p.Thr1380Lys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.T696K|ANK1_uc003xoi.2_Missense_Mutation_p.T1380K|ANK1_uc003xoj.2_Missense_Mutation_p.T1380K|ANK1_uc003xol.2_Missense_Mutation_p.T1380K|ANK1_uc003xom.2_Missense_Mutation_p.T1421K	p.T1380K	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		34	4223	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1380					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4139C>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.974105|2.974105	0.53720|0.53720	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.65916	.|-0.17;-0.18;-0.15;-0.13;-0.15;-0.14;-0.17	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73156|0.73156	0.3551|0.3551	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D;D;B;B;D;P	.|0.89917	.|1.0;1.0;0.267;0.386;1.0;0.502	.|D;D;B;B;D;B	.|0.97110	.|1.0;0.999;0.142;0.184;1.0;0.148	T|T	0.67948|0.67948	-0.5538|-0.5538	5|10	.|0.22109	.|T	.|0.4	.|.	16.2411|16.2411	0.82409|0.82409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1421;1380;1380;1380;1380;696	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	E|K	701|1380;1380;1380;1380;1380;1380;1421;1380	.|ENSP00000339620:T1380K;ENSP00000289734:T1380K;ENSP00000369082:T1380K;ENSP00000380149:T1380K;ENSP00000380147:T1380K;ENSP00000309131:T1380K;ENSP00000265709:T1421K	.|ENSP00000265709:T1421K	D|T	-|-	3|2	2|0	ANK1|ANK1	41665230|41665230	1.000000|1.000000	0.71417|0.71417	0.521000|0.521000	0.27850|0.27850	0.052000|0.052000	0.14988|0.14988	7.594000|7.594000	0.82698|0.82698	2.502000|2.502000	0.84385|0.84385	0.462000|0.462000	0.41574|0.41574	GAC|ACG		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		21	45	1	0	2.39556e-15	0.00278	4.11711e-15	21	45				
HGSNAT	138050	broad.mit.edu	37	8	43025733	43025733	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:43025733G>T	ENST00000458501.2	+	7	723	c.723G>T	c.(721-723)ctG>ctT	p.L241L	HGSNAT_ENST00000379644.4_Silent_p.L213L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	241					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAAGGAGCTGGGATCTCCCA	0.473																																							uc003xpx.3		NA																	0					0						c.(637-639)CTG>CTT		heparan-alpha-glucosaminide N-acetyltransferase							45.0	44.0	45.0					8																	43025733		1928	4138	6066	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43025733G>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.723G>T	8.37:g.43025733G>T							p.L213L	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	687	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	241			Cytoplasmic (Potential).		B4E2V0	Silent	SNP	ENST00000458501.2	37	c.639G>T																																																																																					0.473	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		12	14	1	0	2.27111e-07	0.001368	3.25074e-07	12	14				
SNTG1	54212	broad.mit.edu	37	8	51617187	51617187	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:51617187C>A	ENST00000522124.1	+	16	1727	c.1066C>A	c.(1066-1068)Cag>Aag	p.Q356K	SNTG1_ENST00000276467.5_Missense_Mutation_p.Q356K|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q356K|SNTG1_ENST00000517473.1_Missense_Mutation_p.Q356K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	356	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCGACGGAAACAGTGCTTCAC	0.552																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1066-1068)CAG>AAG		syntrophin, gamma 1							149.0	123.0	132.0					8																	51617187		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617187C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1066C>A	8.37:g.51617187C>A	ENSP00000429842:p.Gln356Lys					SNTG1_uc003xqs.1_Missense_Mutation_p.Q356K|SNTG1_uc010lxz.1_Missense_Mutation_p.Q356K|SNTG1_uc011ldl.1_RNA	p.Q356K	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			17	1437	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	356			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1066C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561096	0.45590	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.19	4.32	0.51571	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.130354	0.64402	D	0.000001	T	0.16727	0.0402	N	0.08118	0	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15065	-1.0450	10	0.33940	T	0.23	-5.1679	12.8853	0.58040	0.0:0.9215:0.0:0.0785	.	356;356	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	K	356	ENSP00000429276:Q356K;ENSP00000429842:Q356K;ENSP00000431123:Q356K;ENSP00000276467:Q356K	ENSP00000276467:Q356K	Q	+	1	0	SNTG1	51779740	1.000000	0.71417	0.986000	0.45419	0.539000	0.34962	4.372000	0.59530	1.319000	0.45190	0.643000	0.83706	CAG		0.552	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			93	99	1	0	6.84326e-50	0.00361	1.48142e-49	93	99				
SNTG1	54212	broad.mit.edu	37	8	51705364	51705364	+	Missense_Mutation	SNP	C	C	A	rs149567485		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:51705364C>A	ENST00000522124.1	+	19	2190	c.1529C>A	c.(1528-1530)aCg>aAg	p.T510K	SNTG1_ENST00000276467.5_Missense_Mutation_p.T473K|SNTG1_ENST00000518864.1_Missense_Mutation_p.T510K|SNTG1_ENST00000517473.1_Missense_Mutation_p.T473K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	510					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTGCTACCACGAGCAAAGCA	0.433																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1528-1530)ACG>AAG		syntrophin, gamma 1							150.0	138.0	142.0					8																	51705364		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705364C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1529C>A	8.37:g.51705364C>A	ENSP00000429842:p.Thr510Lys					SNTG1_uc003xqs.1_Missense_Mutation_p.T510K|SNTG1_uc010lxz.1_Missense_Mutation_p.T473K|SNTG1_uc011ldl.1_RNA	p.T510K	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			20	1900	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	510					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1529C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267109	0.40095	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29142	1.58;1.58;2.22;2.22	5.45	2.71	0.32032	.	0.870059	0.10132	N	0.712012	T	0.20981	0.0505	N	0.14661	0.345	0.24162	N	0.995657	B;B	0.20368	0.044;0.026	B;B	0.25506	0.061;0.027	T	0.30679	-0.9970	10	0.56958	D	0.05	-5.8171	10.1026	0.42513	0.0:0.782:0.0:0.218	.	473;510	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	K	510;510;473;473	ENSP00000429276:T510K;ENSP00000429842:T510K;ENSP00000431123:T473K;ENSP00000276467:T473K	ENSP00000276467:T473K	T	+	2	0	SNTG1	51867917	0.163000	0.22920	0.029000	0.17559	0.039000	0.13416	1.385000	0.34408	0.281000	0.22233	-0.158000	0.13435	ACG		0.433	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			84	116	1	0	1.17611e-34	0.00361	2.45728e-34	84	116				
PXDNL	137902	broad.mit.edu	37	8	52366215	52366215	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:52366215C>A	ENST00000356297.4	-	10	1213	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	PXDNL_ENST00000543296.1_Silent_p.L371L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	371	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGATCCATCCAGCTCCAATC	0.502																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1111-1113)CTG>CTT		peroxidasin homolog-like precursor							120.0	120.0	120.0					8																	52366215		2071	4194	6265	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366215C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1113G>T	8.37:g.52366215C>A							p.L371L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1214	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	371			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1113G>T	CCDS47855.1																																																																																				0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		59	46	1	0	5.82218e-30	0.00361	1.19305e-29	59	46				
CHD7	55636	broad.mit.edu	37	8	61754571	61754571	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:61754571A>T	ENST00000423902.2	+	21	5289	c.4810A>T	c.(4810-4812)Agt>Tgt	p.S1604C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1604					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTATGCAAGGAGTGAATGTTT	0.443																																							uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4810-4812)AGT>TGT		chromodomain helicase DNA binding protein 7							67.0	67.0	67.0					8																	61754571		1906	4129	6035	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61754571A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4810A>T	8.37:g.61754571A>T	ENSP00000392028:p.Ser1604Cys						p.S1604C	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		21	5287	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1604					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4810A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324184	0.81580	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.65364	-0.15	5.63	5.63	0.86233	.	0.118844	0.64402	D	0.000012	T	0.68751	0.3035	L	0.36672	1.1	0.58432	D	0.999999	D	0.60575	0.988	P	0.59889	0.865	T	0.71968	-0.4432	10	0.72032	D	0.01	-17.8058	16.1412	0.81522	1.0:0.0:0.0:0.0	.	1604	Q9P2D1	CHD7_HUMAN	C	1604	ENSP00000392028:S1604C	ENSP00000307304:S1604C	S	+	1	0	CHD7	61917125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.943000	0.63554	2.265000	0.75225	0.533000	0.62120	AGT		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	51	0	0	0	0.004482	0	7	51				
GGH	8836	broad.mit.edu	37	8	63951236	63951236	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:63951236G>A	ENST00000260118.6	-	1	494	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	31	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.		A -> T (in dbSNP:rs11545077).		glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	GGGCTTCTTGGCGGTGTCGCC	0.726																																							uc003xuw.2		NA																	0					0						c.(91-93)GCC>GTC		gamma-glutamyl hydrolase precursor	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						15.0	15.0	15.0					8																	63951236		2196	4294	6490	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63951236G>A	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.92C>T	8.37:g.63951236G>A	ENSP00000260118:p.Ala31Val						p.A31V	NM_003878	NP_003869	Q92820	GGH_HUMAN			1	375	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	31			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.92C>T	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109112	0.56398	.	.	ENSG00000137563	ENST00000260118	T	0.22539	1.95	4.22	-1.66	0.08265	.	0.792035	0.11203	N	0.588636	T	0.10337	0.0253	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.29212	-1.0019	10	0.33141	T	0.24	-13.8596	2.6335	0.04951	0.0968:0.1519:0.2874:0.4639	.	31	Q92820	GGH_HUMAN	V	31	ENSP00000260118:A31V	ENSP00000260118:A31V	A	-	2	0	GGH	64113790	0.000000	0.05858	0.000000	0.03702	0.674000	0.39518	-0.144000	0.10280	-0.112000	0.11979	0.313000	0.20887	GCC		0.726	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			7	13	0	0	0	0.006214	0	7	13				
CSPP1	79848	broad.mit.edu	37	8	68044212	68044212	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:68044212A>G	ENST00000262210.5	+	14	1740	c.1709A>G	c.(1708-1710)aAg>aGg	p.K570R	CSPP1_ENST00000412460.1_Missense_Mutation_p.K276R	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	605					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGAACTGAAGATTACAAGT	0.338																																							uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(1813-1815)AAG>AGG		centrosome spindle pole associated protein 1							140.0	132.0	134.0					8																	68044212		1831	4093	5924	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68044212A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1709A>G	8.37:g.68044212A>G	ENSP00000262210:p.Lys570Arg					CSPP1_uc003xxg.1_Missense_Mutation_p.K597R|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.K570R|CSPP1_uc003xxk.2_Missense_Mutation_p.K276R	p.K605R	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	1845	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	605					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1814A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780050	0.49891	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32515	1.45;1.46;1.46	5.3	2.5	0.30297	.	0.560198	0.15826	N	0.242756	T	0.20088	0.0483	L	0.29908	0.895	0.09310	N	1	P;B;P;P	0.50819	0.873;0.062;0.939;0.939	P;B;B;B	0.44811	0.461;0.025;0.4;0.4	T	0.06625	-1.0816	10	0.17832	T	0.49	-14.2014	5.2881	0.15712	0.6548:0.1635:0.1817:0.0	.	276;570;605;605	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	R	570;605;276;276	ENSP00000262210:K570R;ENSP00000415782:K276R;ENSP00000430092:K276R	ENSP00000262210:K570R	K	+	2	0	CSPP1	68206766	0.987000	0.35691	0.991000	0.47740	0.945000	0.59286	2.360000	0.44151	0.826000	0.34661	0.378000	0.23410	AAG		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		49	110	0	0	0	0.00361	0	49	110				
XKR9	389668	broad.mit.edu	37	8	71593465	71593465	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:71593465T>A	ENST00000408926.3	+	3	706	c.172T>A	c.(172-174)Ttt>Att	p.F58I	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.F58I	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	58						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GGCTCAGTGTTTTAGTTATTC	0.378																																							uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(172-174)TTT>ATT		XK, Kell blood group complex subunit-related							253.0	252.0	252.0					8																	71593465		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71593465T>A	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.172T>A	8.37:g.71593465T>A	ENSP00000386141:p.Phe58Ile					XKR9_uc010lze.2_Missense_Mutation_p.F58I|XKR9_uc010lzd.2_5'UTR	p.F58I	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	706	+	Breast(64;0.0716)		58			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.172T>A	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527351	0.85706	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.64803	-0.12;-0.12;-0.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79147	-0.1923	10	0.33940	T	0.23	-23.097	13.1523	0.59496	0.0:0.0:0.0:1.0	.	58	Q5GH70	XKR9_HUMAN	I	58	ENSP00000386141:F58I;ENSP00000431088:F58I;ENSP00000428904:F58I	ENSP00000386141:F58I	F	+	1	0	XKR9	71756019	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.722000	0.61958	2.122000	0.65172	0.477000	0.44152	TTT		0.378	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		36	657	0	0	0	0.003755	0	36	657				
RDH10	157506	broad.mit.edu	37	8	74235015	74235015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:74235015G>T	ENST00000240285.5	+	5	1550	c.872G>T	c.(871-873)cGc>cTc	p.R291L	RDH10_ENST00000519380.1_Missense_Mutation_p.R126L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	291					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCACTCCCCGCCTCATGTAC	0.512																																							uc003xzi.2		NA																	0					0						c.(871-873)CGC>CTC		retinol dehydrogenase 10							111.0	99.0	103.0					8																	74235015		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74235015G>T	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.872G>T	8.37:g.74235015G>T	ENSP00000240285:p.Arg291Leu					RDH10_uc003xzj.2_Missense_Mutation_p.R126L|uc003xzk.1_Intron	p.R291L	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1132	+	Breast(64;0.0954)		291						Missense_Mutation	SNP	ENST00000240285.5	37	c.872G>T	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288030	0.95517	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88896	-2.44;0.8	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.052577	0.85682	D	0.000000	D	0.93354	0.7881	M	0.75264	2.295	0.80722	D	1	D	0.71674	0.998	P	0.62298	0.9	D	0.90461	0.4446	10	0.22109	T	0.4	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	291	Q8IZV5	RDH10_HUMAN	L	291;126	ENSP00000240285:R291L;ENSP00000428132:R126L	ENSP00000240285:R291L	R	+	2	0	RDH10	74397569	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.657000	0.98554	2.894000	0.99253	0.591000	0.81541	CGC		0.512	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			69	68	1	0	4.83874e-46	0.00361	1.04044e-45	69	68				
JPH1	56704	broad.mit.edu	37	8	75227360	75227360	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:75227360C>A	ENST00000342232.4	-	2	915	c.875G>T	c.(874-876)gGc>gTc	p.G292V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	292					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AACGCCGAAGCCGTTGCGCTT	0.547																																							uc003yae.2		NA																	0				ovary(1)	1						c.(874-876)GGC>GTC		junctophilin 1							143.0	137.0	139.0					8																	75227360		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227360C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.875G>T	8.37:g.75227360C>A	ENSP00000344488:p.Gly292Val					JPH1_uc003yaf.2_Missense_Mutation_p.G292V|JPH1_uc003yag.1_Missense_Mutation_p.G156V	p.G292V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	915	-	Breast(64;0.00576)		292			Cytoplasmic (Potential).|MORN 6.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.875G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345062	0.82022	.	.	ENSG00000104369	ENST00000342232	D	0.93953	-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98988	1.0807	10	0.87932	D	0	.	18.8382	0.92171	0.0:1.0:0.0:0.0	.	292	Q9HDC5	JPH1_HUMAN	V	292	ENSP00000344488:G292V	ENSP00000344488:G292V	G	-	2	0	JPH1	75389915	1.000000	0.71417	0.521000	0.27850	0.840000	0.47671	7.597000	0.82733	2.669000	0.90835	0.655000	0.94253	GGC		0.547	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			105	108	1	0	5.74361e-68	0.00361	1.2547e-67	105	108				
CA1	759	broad.mit.edu	37	8	86240798	86240798	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:86240798A>T	ENST00000523953.1	-	9	1823	c.777T>A	c.(775-777)gcT>gcA	p.A259A	CA1_ENST00000256119.5_Silent_p.A259A|CA1_ENST00000542576.1_Silent_p.A259A|CA1_ENST00000432364.2_Silent_p.A259A|CA1_ENST00000522389.1_Silent_p.A125A|CA1_ENST00000431316.1_Silent_p.A259A|CA1_ENST00000523022.1_Silent_p.A259A			P00915	CAH1_HUMAN	carbonic anhydrase I	259					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ATCAAAATGAAGCTCTCACTG	0.408																																							uc003ydh.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(775-777)GCT>GCA		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						139.0	131.0	134.0					8																	86240798		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86240798A>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.777T>A	8.37:g.86240798A>T						CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Silent_p.A259A|CA1_uc003ydi.2_Silent_p.A259A	p.A259A	NM_001738	NP_001729	P00915	CAH1_HUMAN			9	977	-		all_lung(136;4.89e-06)	259						Silent	SNP	ENST00000523953.1	37	c.777T>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510084	0.27036	.	.	ENSG00000133742	ENST00000521679	.	.	.	4.65	0.541	0.17168	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47420	-0.9119	4	.	.	.	-17.3813	7.3584	0.26731	0.5909:0.0:0.4091:0.0	.	.	.	.	I	176	.	.	F	-	1	0	CA1	86428050	0.420000	0.25457	0.958000	0.39756	0.857000	0.48899	-0.404000	0.07205	0.482000	0.27582	0.528000	0.53228	TTC		0.408	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		15	128	0	0	0	0.00499	0	15	128				
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:92261894G>A	ENST00000276609.3	+	2	254	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SLC26A7_ENST00000309536.2_Silent_p.K5K|SLC26A7_ENST00000523719.1_Silent_p.K5K	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413																																							uc003yex.2		NA																	0				ovary(2)	2						c.(13-15)AAG>AAA		solute carrier family 26, member 7 isoform a							87.0	80.0	82.0					8																	92261894		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92261894G>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.15G>A	8.37:g.92261894G>A						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.K5K|SLC26A7_uc003yfa.2_Silent_p.K5K	p.K5K	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		3	293	+			5			Cytoplasmic (Potential).			Silent	SNP	ENST00000276609.3	37	c.15G>A	CCDS6254.1																																																																																				0.413	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			45	61	0	0	0	0.00361	0	45	61				
RBM12B	389677	broad.mit.edu	37	8	94747176	94747176	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:94747176G>A	ENST00000399300.2	-	3	1676	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	RBM12B_ENST00000517700.1_Missense_Mutation_p.S488F|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	488							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGACATCACAGAAAAATTTAC	0.408																																							uc003yfz.2		NA																	0					0						c.(1462-1464)TCT>TTT		RNA binding motif protein 12B							130.0	127.0	128.0					8																	94747176		1851	4091	5942	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747176G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1463C>T	8.37:g.94747176G>A	ENSP00000382239:p.Ser488Phe						p.S488F	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1656	-	Breast(36;4.14e-07)		488					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1463C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386989	0.42308	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07908	3.15;3.16	4.86	4.86	0.63082	.	0.606148	0.16067	N	0.231216	T	0.15998	0.0385	L	0.27053	0.805	0.30605	N	0.760152	D	0.67145	0.996	P	0.57548	0.823	T	0.02015	-1.1229	10	0.54805	T	0.06	-1.4574	18.3535	0.90348	0.0:0.0:1.0:0.0	.	488	Q8IXT5	RB12B_HUMAN	F	488	ENSP00000382239:S488F;ENSP00000427729:S488F	ENSP00000382239:S488F	S	-	2	0	RBM12B	94816352	1.000000	0.71417	0.147000	0.22382	0.558000	0.35554	6.025000	0.70864	2.382000	0.81193	0.591000	0.81541	TCT		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		16	280	0	0	0	0.00499	0	16	280				
RRM2B	50484	broad.mit.edu	37	8	103244533	103244533	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:103244533C>T	ENST00000251810.3	-	2	292		c.e2-1		RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)						deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	AAGATGATCTCTTTGAAAAAT	0.378								Modulation of nucleotide pools																															uc003ykn.2		NA																	0				ovary(2)	2						c.e2-1	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							83.0	84.0	84.0					8																	103244533		2203	4300	6503	SO:0001630	splice_region_variant	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103244533C>T	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.49-1G>A	8.37:g.103244533C>T						RRM2B_uc003yko.2_Splice_Site|RRM2B_uc010mbv.1_Intron|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Splice_Site|RRM2B_uc010mby.1_Intron	p.R17_splice	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		2	293	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Splice_Site	SNP	ENST00000251810.3	37	c.49_splice	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191893	0.21954	.	.	ENSG00000048392	ENST00000251810;ENST00000522368;ENST00000522394	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9447	0.71020	0.0:0.8575:0.1425:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRM2B	103313709	0.998000	0.40836	0.088000	0.20740	0.108000	0.19459	1.583000	0.36579	2.570000	0.86706	0.650000	0.86243	.		0.378	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		Intron	55	48	0	0	0	0.00361	0	55	48				
ZFPM2	23414	broad.mit.edu	37	8	106815123	106815123	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:106815123C>A	ENST00000407775.2	+	8	3063	c.2813C>A	c.(2812-2814)aCc>aAc	p.T938N	ZFPM2_ENST00000520492.1_Missense_Mutation_p.T806N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T806N|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T669N|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	938					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACCTAGCAACCCTGCAAGGC	0.423																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2812-2814)ACC>AAC		zinc finger protein, multitype 2							33.0	32.0	32.0					8																	106815123		1872	4093	5965	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815123C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2813C>A	8.37:g.106815123C>A	ENSP00000384179:p.Thr938Asn					ZFPM2_uc011lhs.1_Missense_Mutation_p.T669N	p.T938N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2836	+			938					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2813C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346183	0.24426	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21031	2.03;2.52;2.52;3.72	5.76	5.76	0.90799	.	0.097384	0.64402	D	0.000001	T	0.16896	0.0406	L	0.27053	0.805	0.58432	D	0.999997	P	0.44734	0.842	B	0.34536	0.185	T	0.02358	-1.1171	10	0.72032	D	0.01	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	938	Q8WW38	FOG2_HUMAN	N	938;806;806;669	ENSP00000384179:T938N;ENSP00000430757:T806N;ENSP00000428720:T806N;ENSP00000367733:T669N	ENSP00000367733:T669N	T	+	2	0	ZFPM2	106884299	1.000000	0.71417	0.732000	0.30844	0.518000	0.34316	7.378000	0.79679	2.722000	0.93159	0.650000	0.86243	ACC		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			13	20	1	0	2.61681e-11	0.00245	4.12751e-11	13	20				
CSMD3	114788	broad.mit.edu	37	8	113960063	113960063	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:113960063A>T	ENST00000297405.5	-	9	1708	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCTCCTGGATCTGGGCATA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1462-1464)GAT>GAA		CUB and Sushi multiple domains 3 isoform 1							91.0	92.0	92.0					8																	113960063		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960063A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1464T>A	8.37:g.113960063A>T	ENSP00000297405:p.Asp488Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.D448E|CSMD3_uc011lhx.1_Missense_Mutation_p.D384E	p.D488E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			9	1623	-			488			Extracellular (Potential).|Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1464T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450666	0.63290	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.1	3.93	0.45458	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.70954	0.3283	M	0.67625	2.065	0.28050	N	0.9334	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.91635	0.957;0.998;0.999	T	0.62978	-0.6739	10	0.06625	T	0.88	.	10.8142	0.46564	0.9248:0.0:0.0752:0.0	.	384;488;448	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	448;488;384;488	ENSP00000345799:D448E;ENSP00000297405:D488E;ENSP00000412263:D384E;ENSP00000343124:D488E	ENSP00000297405:D488E	D	-	3	2	CSMD3	114029239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.588000	0.46137	0.887000	0.36136	0.454000	0.30748	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	62	0	0	0	0.006214	0	8	62				
COL14A1	7373	broad.mit.edu	37	8	121344966	121344966	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:121344966G>C	ENST00000297848.3	+	42	5047	c.4777G>C	c.(4777-4779)Gga>Cga	p.G1593R	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1593R|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1498R	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGCGCCCTGGGACCACCTGT	0.502																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4777-4779)GGA>CGA		collagen, type XIV, alpha 1 precursor							89.0	81.0	84.0					8																	121344966		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121344966G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4777G>C	8.37:g.121344966G>C	ENSP00000297848:p.Gly1593Arg					COL14A1_uc003yoz.2_Missense_Mutation_p.G558R	p.G1593R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		42	5042	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1593			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4777G>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411096	0.62399	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.99537	-6.11;-6.11;-6.11	5.52	5.52	0.82312	.	0.048826	0.85682	N	0.000000	D	0.99736	0.9896	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97382	0.9983	10	0.87932	D	0	.	16.3283	0.82996	0.0:0.0:1.0:0.0	.	1593	Q05707	COEA1_HUMAN	R	1593;1593;1498	ENSP00000311809:G1593R;ENSP00000297848:G1593R;ENSP00000247781:G1498R	ENSP00000247781:G1498R	G	+	1	0	COL14A1	121414147	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	5.902000	0.69869	2.594000	0.87642	0.561000	0.74099	GGA		0.502	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		10	32	0	0	0	0.000978	0	10	32				
GSDMC	56169	broad.mit.edu	37	8	130760847	130760847	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:130760847T>A	ENST00000276708.4	-	14	2308	c.1427A>T	c.(1426-1428)gAg>gTg	p.E476V		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	476						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTTATCCAGCTCCATCCTAAG	0.577																																							uc003ysr.2		NA																	0				ovary(2)|skin(1)	3						c.(1426-1428)GAG>GTG		melanoma-derived leucine zipper, extra-nuclear							109.0	99.0	102.0					8																	130760847		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130760847T>A	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1427A>T	8.37:g.130760847T>A	ENSP00000276708:p.Glu476Val						p.E476V	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			14	2309	-			476					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1427A>T	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044210	0.55110	.	.	ENSG00000147697	ENST00000276708	T	0.26810	1.71	4.72	2.23	0.28157	.	0.784904	0.11648	N	0.543032	T	0.45013	0.1321	M	0.65498	2.005	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.21314	-1.0249	10	0.72032	D	0.01	.	8.9707	0.35905	0.0:0.0:0.4015:0.5985	.	476	Q9BYG8	GSDMC_HUMAN	V	476	ENSP00000276708:E476V	ENSP00000276708:E476V	E	-	2	0	GSDMC	130830029	0.000000	0.05858	0.003000	0.11579	0.147000	0.21601	0.278000	0.18753	0.284000	0.22305	0.477000	0.44152	GAG		0.577	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			13	84	0	0	0	0.00245	0	13	84				
MROH5	389690	broad.mit.edu	37	8	142450389	142450389	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:142450389G>T	ENST00000606664.1	+	0	5922				MROH5_ENST00000430863.1_RNA																							CCTCAGGGCTGGGGTCGTGGA	0.627																																							uc003ywi.2		NA																	0					0						c.(3157-3159)CCC>CCA		hypothetical protein LOC389690							30.0	33.0	32.0					8																	142450389		2100	4217	6317			389690						binding	g.chr8:142450389G>T																													8.37:g.142450389G>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.P1053P	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		26	3240	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		1053						Silent	SNP	ENST00000606664.1	37	c.3159C>A																																																																																					0.627	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			5	7	1	0	0.000602214	0.000602	0.000770031	5	7				
CYP11B2	1585	broad.mit.edu	37	8	143994079	143994079	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:143994079C>A	ENST00000323110.2	-	8	1267	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGGATTATACCGCTCAGGCCT	0.622									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	0					0						c.(1264-1266)CGG>CTG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						85.0	90.0	88.0					8																	143994079		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994079C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1265G>T	8.37:g.143994079C>A	ENSP00000325822:p.Arg422Leu						p.R422L	NM_000498	NP_000489	P19099	C11B2_HUMAN			8	1268	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		422					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1265G>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.78	2.340477	0.41498	.	.	ENSG00000179142	ENST00000323110	T	0.69561	-0.41	3.52	3.52	0.40303	.	0.399630	0.21610	N	0.071815	T	0.61185	0.2327	L	0.49699	1.58	0.36015	D	0.8383	B	0.20988	0.05	B	0.25291	0.059	T	0.68443	-0.5407	10	0.51188	T	0.08	.	12.9218	0.58237	0.0:1.0:0.0:0.0	.	422	P19099	C11B2_HUMAN	L	422	ENSP00000325822:R422L	ENSP00000325822:R422L	R	-	2	0	CYP11B2	143991081	0.845000	0.29573	0.172000	0.22920	0.001000	0.01503	0.214000	0.17541	1.937000	0.56155	0.563000	0.77884	CGG		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			61	50	1	0	7.41606e-26	0.00361	1.47552e-25	61	50				
ZNF623	9831	broad.mit.edu	37	8	144733608	144733608	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:144733608G>T	ENST00000501748.2	+	1	1655	c.1566G>T	c.(1564-1566)ttG>ttT	p.L522F	ZNF623_ENST00000526926.1_Missense_Mutation_p.L482F|ZNF623_ENST00000458270.2_Missense_Mutation_p.L482F	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	522					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(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATACATTTGGGTGAGAGGT	0.413																																							uc003yzd.2		NA																	0					0						c.(1564-1566)TTG>TTT		zinc finger protein 623 isoform 1							69.0	71.0	70.0					8																	144733608		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733608G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1566G>T	8.37:g.144733608G>T	ENSP00000445979:p.Leu522Phe					ZNF623_uc011lkp.1_Missense_Mutation_p.L482F|ZNF623_uc003yzc.2_Missense_Mutation_p.L482F	p.L522F	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1655	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		522					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1566G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199767	0.38905	.	.	ENSG00000183309	ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.06528	3.3;3.3;3.29	3.43	-0.674	0.11369	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48559	-0.9025	9	0.15952	T	0.53	-12.8211	5.438	0.16492	0.1819:0.3236:0.4946:0.0	.	522	O75123	ZN623_HUMAN	F	482;482;522;522	ENSP00000435232:L482F;ENSP00000411139:L482F;ENSP00000445979:L522F	ENSP00000411139:L482F	L	+	3	2	ZNF623	144804751	0.000000	0.05858	0.044000	0.18714	0.833000	0.47200	0.460000	0.21924	-0.149000	0.11215	0.491000	0.48974	TTG		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		38	68	1	0	9.80977e-26	0.004289	1.92384e-25	38	68				
MAF1	84232	broad.mit.edu	37	8	145161324	145161324	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:145161324G>T	ENST00000322428.5	+	5	861	c.457G>T	c.(457-459)Gcg>Tcg	p.A153S	KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.A153S|MAF1_ENST00000534585.1_Missense_Mutation_p.A153S	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGGAACGCGGTGGACGA	0.592																																							uc003zbc.1		NA																	0					0						c.(457-459)GCG>TCG		MAF1 protein							128.0	96.0	107.0					8																	145161324		2202	4300	6502	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145161324G>T		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.457G>T	8.37:g.145161324G>T	ENSP00000318604:p.Ala153Ser					SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	p.A153S	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	958	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		153					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.457G>T	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795140	0.50208	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527058	T;T;T	0.46819	0.86;0.88;0.86	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.37697	1.125	0.80722	D	1	B	0.32693	0.38	B	0.40659	0.336	T	0.24083	-1.0170	10	0.20519	T	0.43	-17.1693	14.8136	0.70013	0.0:0.0:1.0:0.0	.	153	Q9H063	MAF1_HUMAN	S	153	ENSP00000318604:A153S;ENSP00000433979:A153S;ENSP00000436720:A153S	ENSP00000318604:A153S	A	+	1	0	MAF1	145233312	1.000000	0.71417	0.562000	0.28370	0.524000	0.34500	6.997000	0.76270	2.576000	0.86940	0.655000	0.94253	GCG		0.592	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		20	30	1	0	1.15919e-05	0.008871	1.56352e-05	20	30				
ADAMTSL1	92949	broad.mit.edu	37	9	18777002	18777002	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:18777002G>T	ENST00000380548.4	+	19	3114	c.2775G>T	c.(2773-2775)acG>acT	p.T925T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	925	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCACGTCACGGTGGCCCCCT	0.672																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2773-2775)ACG>ACT		ADAMTS-like 1 isoform 4 precursor							41.0	50.0	47.0					9																	18777002		2082	4220	6302	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777002G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2775G>T	9.37:g.18777002G>T							p.T925T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2902	+			925			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2775G>T	CCDS47954.1																																																																																				0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			18	63	1	0	1.99824e-07	0.00499	2.86873e-07	18	63				
TAF1L	138474	broad.mit.edu	37	9	32635372	32635372	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:32635372C>A	ENST00000242310.4	-	1	295	c.206G>T	c.(205-207)gGg>gTg	p.G69V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	69					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCAAAGCCCCCAAGCCTGC	0.537																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(205-207)GGG>GTG		TBP-associated factor RNA polymerase 1-like							117.0	115.0	116.0					9																	32635372		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635372C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.206G>T	9.37:g.32635372C>A	ENSP00000418379:p.Gly69Val					uc003zrh.1_Intron	p.G69V	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	296	-			69					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.206G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787312	0.49997	.	.	ENSG00000122728	ENST00000242310	T	0.08720	3.06	1.56	1.56	0.23342	TAFII-230 TBP-binding (2);	0.055041	0.64402	D	0.000001	T	0.15392	0.0371	L	0.56769	1.78	0.80722	D	1	P	0.52316	0.952	P	0.56278	0.795	T	0.01205	-1.1419	10	0.56958	D	0.05	.	6.6188	0.22792	0.0:1.0:0.0:0.0	.	69	Q8IZX4	TAF1L_HUMAN	V	69	ENSP00000418379:G69V	ENSP00000418379:G69V	G	-	2	0	TAF1L	32625372	0.386000	0.25180	0.955000	0.39395	0.078000	0.17371	3.324000	0.52022	0.507000	0.28148	0.195000	0.17529	GGG		0.537	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			16	51	1	0	3.52763e-06	0.00499	4.83286e-06	16	51				
CCL21	6366	broad.mit.edu	37	9	34709603	34709603	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:34709603G>T	ENST00000259607.2	-	3	322	c.265C>A	c.(265-267)Cat>Aat	p.H89N	CCL21_ENST00000378792.1_Missense_Mutation_p.H89N	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	89					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTGTCCAGATGCTGCATCAGC	0.607																																							uc003zvo.2		NA																	0					0						c.(265-267)CAT>AAT		small inducible cytokine A21 precursor							55.0	54.0	54.0					9																	34709603		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709603G>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.265C>A	9.37:g.34709603G>T	ENSP00000259607:p.His89Asn						p.H89N	NM_002989	NP_002980	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	3	349	-	all_epithelial(49;0.0899)		89						Missense_Mutation	SNP	ENST00000259607.2	37	c.265C>A	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007313	0.35415	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.04654	3.58;3.58	5.51	4.55	0.56014	Chemokine interleukin-8-like domain (3);	0.366978	0.23666	N	0.045774	T	0.04815	0.0130	L	0.35593	1.075	0.09310	N	1	B	0.27791	0.189	B	0.30251	0.113	T	0.37407	-0.9707	10	0.27785	T	0.31	-0.1521	11.1084	0.48216	0.0:0.0:0.8158:0.1842	.	89	O00585	CCL21_HUMAN	N	89	ENSP00000259607:H89N;ENSP00000368069:H89N	ENSP00000259607:H89N	H	-	1	0	CCL21	34699603	0.037000	0.19845	0.038000	0.18304	0.906000	0.53458	2.711000	0.47177	2.741000	0.93983	0.650000	0.86243	CAT		0.607	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		34	32	1	0	1.99505e-19	0.002445	3.68643e-19	34	32				
C9orf131	138724	broad.mit.edu	37	9	35043482	35043482	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:35043482C>A	ENST00000312292.5	+	2	903	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	C9orf131_ENST00000354479.5_Missense_Mutation_p.L213I|C9orf131_ENST00000421362.2_Missense_Mutation_p.L238I|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	286										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATCACTACTCCTCCATCTGAG	0.567																																							uc003zvw.2		NA																	0					0						c.(856-858)CTC>ATC		hypothetical protein LOC138724 isoform A							129.0	119.0	123.0					9																	35043482		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043482C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.856C>A	9.37:g.35043482C>A	ENSP00000308279:p.Leu286Ile					C9orf131_uc003zvu.2_Missense_Mutation_p.L238I|C9orf131_uc003zvv.2_Missense_Mutation_p.L213I|C9orf131_uc003zvx.2_Missense_Mutation_p.L251I	p.L286I	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	885	+	all_epithelial(49;0.22)		286					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.856C>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078238	0.36662	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.32753	2.42;2.42;2.43;1.44	4.95	-0.265	0.12946	.	1.159050	0.06500	N	0.736065	T	0.24509	0.0594	L	0.55481	1.735	0.09310	N	1	B;B;B	0.32829	0.386;0.386;0.386	B;B;B	0.30251	0.077;0.113;0.113	T	0.22208	-1.0223	10	0.24483	T	0.36	-0.0015	4.4249	0.11498	0.0:0.4094:0.3124:0.2783	.	286;213;238	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	I	238;213;286;251	ENSP00000393683:L238I;ENSP00000346472:L213I;ENSP00000308279:L286I;ENSP00000368019:L251I	ENSP00000308279:L286I	L	+	1	0	C9orf131	35033482	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.134000	0.10436	-0.219000	0.10003	-0.971000	0.02607	CTC		0.567	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		62	45	1	0	9.59835e-30	0.00361	1.95431e-29	62	45				
SPATA31D5P	347127	broad.mit.edu	37	9	84530665	84530665	+	RNA	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:84530665C>A	ENST00000527857.1	+	0	687					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GAGGGACCCTCTGCCACCACA	0.542																																							uc011lst.1		NA																	0					0						c.(586-588)CTG>ATG		SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein;																																						347127							g.chr9:84530665C>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530665C>A							p.L196M	NR_026851						4	687	+									Missense_Mutation	SNP	ENST00000527857.1	37	c.586C>A																																																																																					0.542	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		131	26	1	0	5.21138e-58	0.00361	1.13584e-57	131	26				
RASEF	158158	broad.mit.edu	37	9	85615133	85615133	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:85615133G>A	ENST00000376447.3	-	12	1934	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	558					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAAGTCTCATGAGGAAACTAG	0.443																																							uc004amo.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1672-1674)CTC>CTT		RAS and EF-hand domain containing							107.0	104.0	105.0					9																	85615133		2203	4300	6503	SO:0001819	synonymous_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615133G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1674C>T	9.37:g.85615133G>A							p.L558L	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			12	1935	-			558					A6NC29|Q96N04	Silent	SNP	ENST00000376447.3	37	c.1674C>T	CCDS6662.1																																																																																				0.443	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		60	5	0	0	0	0.00361	0	60	5				
ZNF510	22869	broad.mit.edu	37	9	99521621	99521621	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:99521621A>G	ENST00000375231.1	-	6	2141	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	ZNF510_ENST00000223428.4_Silent_p.F497F			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	497					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(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACTTCTGAACAAAAGTTTTCC	0.408																																							uc004awn.1		NA																	0					0						c.(1489-1491)TTT>TTC		zinc finger protein 510							128.0	124.0	125.0					9																	99521621		2203	4300	6503	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521621A>G	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1491T>C	9.37:g.99521621A>G						ZNF510_uc004awo.1_Silent_p.F497F	p.F497F	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1680	-		Acute lymphoblastic leukemia(62;0.0527)	497			C2H2-type 5.		Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.1491T>C	CCDS35074.1																																																																																				0.408	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		131	16	0	0	0	0.00361	0	131	16				
MRPL50	54534	broad.mit.edu	37	9	104152812	104152812	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:104152812G>A	ENST00000374865.4	-	2	434	c.413C>T	c.(412-414)tCt>tTt	p.S138F	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	138						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATCAAATTTAGATCTATCTTG	0.408																																							uc004bbe.2		NA																	0					0						c.(412-414)TCT>TTT		mitochondrial ribosomal protein L50							76.0	76.0	76.0					9																	104152812		2203	4298	6501	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104152812G>A	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.413C>T	9.37:g.104152812G>A	ENSP00000363999:p.Ser138Phe					MRPL50_uc011lvj.1_Intron	p.S138F	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN			2	458	-		Acute lymphoblastic leukemia(62;0.0559)	138					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.413C>T	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409153	0.62399	.	.	ENSG00000136897	ENST00000374865	T	0.46819	0.86	5.9	5.9	0.94986	.	0.410761	0.23736	N	0.045069	T	0.60715	0.2290	L	0.60455	1.87	0.51012	D	0.999907	D	0.60575	0.988	P	0.62298	0.9	T	0.62062	-0.6933	10	0.72032	D	0.01	-6.2622	11.2006	0.48739	0.0832:0.0:0.9168:0.0	.	138	Q8N5N7	RM50_HUMAN	F	138	ENSP00000363999:S138F	ENSP00000363999:S138F	S	-	2	0	MRPL50	103192633	0.996000	0.38824	0.994000	0.49952	0.944000	0.59088	2.744000	0.47450	2.793000	0.96121	0.563000	0.77884	TCT		0.408	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		86	16	0	0	0	0.00361	0	86	16				
DFNB31	25861	broad.mit.edu	37	9	117240967	117240967	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:117240967T>A	ENST00000362057.3	-	2	871	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.T235S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	235					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCCAGGTGTAGATGTGG	0.667																																							uc004biz.3		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(703-705)ACC>TCC		CASK-interacting protein CIP98 isoform 1							37.0	36.0	36.0					9																	117240967		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240967T>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.703A>T	9.37:g.117240967T>A	ENSP00000354623:p.Thr235Ser					DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.T235S|DFNB31_uc004bjb.2_Missense_Mutation_p.T235S	p.T235S	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			2	1352	-			235					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.703A>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206666	0.58343	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.16457	2.34;2.34	5.53	5.53	0.82687	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.67953	2.075	0.58432	D	0.999995	P;B;B	0.51653	0.947;0.084;0.063	P;B;B	0.45449	0.481;0.048;0.026	T	0.03060	-1.1077	10	0.27082	T	0.32	-39.9376	15.6591	0.77169	0.0:0.0:0.0:1.0	.	235;235;235	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	S	235	ENSP00000354623:T235S;ENSP00000363170:T235S	ENSP00000354623:T235S	T	-	1	0	DFNB31	116280788	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.875000	0.69660	2.097000	0.63578	0.374000	0.22700	ACC		0.667	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		16	2	0	0	0	0.004007	0	16	2				
PAPPA	5069	broad.mit.edu	37	9	118949571	118949571	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:118949571T>C	ENST00000328252.3	+	2	923	c.554T>C	c.(553-555)aTc>aCc	p.I185T	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	185					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGACCACCATCAATGCCCAC	0.557																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(553-555)ATC>ACC		pregnancy-associated plasma protein A							85.0	78.0	81.0					9																	118949571		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949571T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.554T>C	9.37:g.118949571T>C	ENSP00000330658:p.Ile185Thr					PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	p.I185T	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	935	+			185					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.554T>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063872	0.76187	.	.	ENSG00000182752	ENST00000328252	T	0.73789	-0.78	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.63843	1.955	0.80722	D	1	P	0.37612	0.602	B	0.39805	0.31	T	0.78178	-0.2305	10	0.87932	D	0	-29.6128	16.6288	0.85011	0.0:0.0:0.0:1.0	.	185	Q13219	PAPP1_HUMAN	T	185	ENSP00000330658:I185T	ENSP00000330658:I185T	I	+	2	0	PAPPA	117989392	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.008000	0.88588	2.326000	0.78906	0.533000	0.62120	ATC		0.557	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		18	74	0	0	0	0.00278	0	18	74				
NCS1	23413	broad.mit.edu	37	9	132988695	132988695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:132988695G>T	ENST00000372398.3	+	7	588	c.502G>T	c.(502-504)Gag>Tag	p.E168*	NCS1_ENST00000458469.1_Nonsense_Mutation_p.E150*	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						GACCCTGCAGGAGTTCCAGGA	0.647																																					Melanoma(30;182 1162 22581 33240)	Melanoma(30;182 1162 22581 33240)	uc004bzi.2		NA																	0					0						c.(502-504)GAG>TAG		frequenin homolog isoform 1							47.0	43.0	44.0					9																	132988695		2203	4300	6503	SO:0001587	stop_gained	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132988695G>T	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.502G>T	9.37:g.132988695G>T	ENSP00000361475:p.Glu168*					NCS1_uc010myz.1_Nonsense_Mutation_p.E150*	p.E168*	NM_014286	NP_055101	P62166	NCS1_HUMAN			7	588	+			168			3.|EF-hand 4.		E9PAY3|P36610|Q9UK26	Nonsense_Mutation	SNP	ENST00000372398.3	37	c.502G>T	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	g	38	6.678964	0.97755	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0215	0.89255	0.0:0.0:1.0:0.0	.	.	.	.	X	168;150	.	ENSP00000361475:E168X	E	+	1	0	NCS1	132028516	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.351000	0.97073	2.492000	0.84095	0.556000	0.70494	GAG		0.647	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		12	24	1	0	1.3612e-06	0.003163	1.90014e-06	12	24				
PRRC2B	84726	broad.mit.edu	37	9	134354714	134354714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:134354714G>T	ENST00000357304.4	+	18	4889	c.4834G>T	c.(4834-4836)Gag>Tag	p.E1612*	PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.E918*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.E918*|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1612							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTATGTCTGGAGCAAGGTGA	0.572																																							uc004can.3		NA																	0					0						c.(4834-4836)GAG>TAG		HLA-B associated transcript 2-like							64.0	66.0	65.0					9																	134354714		2036	4180	6216	SO:0001587	stop_gained	84726						protein binding	g.chr9:134354714G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4834G>T	9.37:g.134354714G>T	ENSP00000349856:p.Glu1612*					BAT2L1_uc004cao.3_Nonsense_Mutation_p.E970*	p.E1612*	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			18	4889	+			1612					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.4834G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.55|18.55	3.647274|3.647274	0.67358|0.67358	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.42053|.	U|.	0.000776|.	.|T	.|0.73853	.|0.3640	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72934	.|-0.4141	.|4	0.59425|.	D|.	0.04|.	-33.4708|-33.4708	17.7856|17.7856	0.88536|0.88536	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	918;1612;918|345	.|.	ENSP00000349856:E1612X|.	E|G	+|+	1|2	0|0	PRRC2B|PRRC2B	133344535|133344535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.060000|0.060000	0.15804|0.15804	9.188000|9.188000	0.94921|0.94921	2.436000|2.436000	0.82500|0.82500	0.455000|0.455000	0.32223|0.32223	GAG|GGA		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	10	1	0	1.5842e-08	0.001855	2.31593e-08	13	10				
COL5A1	1289	broad.mit.edu	37	9	137701111	137701111	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:137701111G>A	ENST00000371817.3	+	43	3863	c.3449G>A	c.(3448-3450)gGt>gAt	p.G1150D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1150	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCCCTGTGGGTCCCCCTGGA	0.622																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3448-3450)GGT>GAT		alpha 1 type V collagen preproprotein							20.0	22.0	21.0					9																	137701111		2200	4298	6498	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137701111G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3449G>A	9.37:g.137701111G>A	ENSP00000360882:p.Gly1150Asp						p.G1150D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	43	3831	+		Myeloproliferative disorder(178;0.0341)	1150			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3449G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743382	0.69418	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.75	3.75	0.43078	.	0.000000	0.85682	U	0.000000	D	0.99732	0.9895	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97000	0.9728	10	0.87932	D	0	.	15.9158	0.79517	0.0:0.0:1.0:0.0	.	1150	P20908	CO5A1_HUMAN	D	1150	ENSP00000360882:G1150D	ENSP00000360882:G1150D	G	+	2	0	COL5A1	136840932	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	9.635000	0.98437	1.820000	0.53075	0.643000	0.83706	GGT		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		5	17	0	0	0	0.000602	0	5	17				
LCN8	138307	broad.mit.edu	37	9	139650984	139650984	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:139650984G>T	ENST00000371688.3	-	3	511	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	95					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CAGGAAAAGCGAATTTTCCCG	0.517																																							uc004cjb.1		NA																	0				pancreas(1)	1						c.(214-216)TTC>TTA		lipocalin 8							224.0	196.0	205.0					9																	139650984		2203	4300	6503	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139650984G>T	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.216C>A	9.37:g.139650984G>T	ENSP00000360753:p.Phe72Leu					LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.F72L	p.F72L	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	3	565	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	95					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.216C>A	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281328	0.40394	.	.	ENSG00000204001	ENST00000371688	T	0.14391	2.51	3.55	-7.1	0.01547	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.29423	0.0733	M	0.62723	1.935	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	T	0.32188	-0.9916	9	0.72032	D	0.01	.	13.594	0.61978	0.2986:0.0:0.7014:0.0	.	95;72	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	L	72	ENSP00000360753:F72L	ENSP00000360753:F72L	F	-	3	2	LCN8	138770805	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.446000	0.06837	-1.525000	0.01762	-1.564000	0.00881	TTC		0.517	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		62	80	1	0	1.02487e-32	0.00361	2.13663e-32	62	80				
ZBED1	9189	broad.mit.edu	37	X	2406920	2406920	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:2406920G>A	ENST00000381223.4	-	2	2044	c.1841C>T	c.(1840-1842)aCg>aTg	p.T614M	ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381218.3_Missense_Mutation_p.T614M|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.T614M	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	614					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGACGCGCGTGGCCGTCAC	0.667																																							uc004cqg.2		NA																	0					0						c.(1840-1842)ACG>ATG		zinc finger, BED-type containing 1		G	MET/THR,MET/THR,MET/THR,	1,4405		0,1,2202	123.0	123.0	123.0		1841,1841,1841,	3.1	0.3	X		123	0,8592		0,0,4296	no	missense,missense,missense,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	81,81,81,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	614/695,614/695,614/695,	2406920	1,12997	2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406920G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1841C>T	X.37:g.2406920G>A	ENSP00000370621:p.Thr614Met					DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T614M	p.T614M	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	2042	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	614					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1841C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490632	0.26686	2.27E-4	0.0	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.31510	1.49;1.49;1.49	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.449191	0.19071	N	0.123508	T	0.41096	0.1144	.	.	.	0.09310	N	1	D	0.62365	0.991	P	0.52598	0.703	T	0.26573	-1.0099	9	0.49607	T	0.09	.	13.6519	0.62316	0.0:0.0:1.0:0.0	.	614	O96006	ZBED1_HUMAN	M	614	ENSP00000370621:T614M;ENSP00000370620:T614M;ENSP00000370616:T614M	ENSP00000370616:T614M	T	-	2	0	ZBED1	2416920	1.000000	0.71417	0.263000	0.24496	0.209000	0.24338	4.626000	0.61269	1.155000	0.42497	0.519000	0.50382	ACG		0.667	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		46	71	0	0	0	0.003214	0	46	71				
MXRA5	25878	broad.mit.edu	37	X	3239833	3239833	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:3239833G>T	ENST00000217939.6	-	5	4047	c.3893C>A	c.(3892-3894)aCc>aAc	p.T1298N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1298						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTCTGGTGGTTGTCATGTA	0.373																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3892-3894)ACC>AAC		adlican precursor							144.0	131.0	136.0					X																	3239833		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239833G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3893C>A	X.37:g.3239833G>T	ENSP00000217939:p.Thr1298Asn						p.T1298N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4050	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1298					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3893C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	7.782	0.709746	0.15239	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68765	-0.35	3.41	2.52	0.30459	.	0.877081	0.09414	U	0.805319	T	0.47284	0.1437	N	0.14661	0.345	0.09310	N	1	P	0.44578	0.838	B	0.41135	0.348	T	0.34477	-0.9827	10	0.54805	T	0.06	.	4.2191	0.10549	0.149:0.238:0.6131:0.0	.	1298	Q9NR99	MXRA5_HUMAN	N	1298	ENSP00000217939:T1298N	ENSP00000217939:T1298N	T	-	2	0	MXRA5	3249833	0.001000	0.12720	0.008000	0.14137	0.463000	0.32649	1.023000	0.30065	0.317000	0.23160	0.436000	0.28706	ACC		0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		76	14	1	0	3.33186e-49	0.00361	7.19651e-49	76	14				
FRMPD4	9758	broad.mit.edu	37	X	12516865	12516865	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:12516865C>T	ENST00000380682.1	+	2	614	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	36	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGTGCCGCCCTATGGATGGG	0.512																																							uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(106-108)CCC>CCT		FERM and PDZ domain containing 4							70.0	65.0	66.0					X																	12516865		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12516865C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.108C>T	X.37:g.12516865C>T						FRMPD4_uc011mij.1_Silent_p.P28P	p.P36P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			2	614	+			36			WW.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.108C>T	CCDS35201.1																																																																																				0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		22	1	0	0	0	0.003954	0	22	1				
TLR8	51311	broad.mit.edu	37	X	12938504	12938504	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:12938504C>A	ENST00000218032.6	+	2	1432	c.1345C>A	c.(1345-1347)Cgt>Agt	p.R449S	TLR8_ENST00000311912.5_Missense_Mutation_p.R467S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	449					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTCTTTTCAACGTCATATCCG	0.378													C|||	1	0.000264901	0.0	0.0	3775	,	,		14163	0.001		0.0	False		,,,				2504	0.0						uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(1345-1347)CGT>AGT		toll-like receptor 8 precursor							66.0	62.0	63.0					X																	12938504		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938504C>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1345C>A	X.37:g.12938504C>A	ENSP00000218032:p.Arg449Ser					TLR8_uc004cvd.2_Missense_Mutation_p.R467S	p.R449S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1413	+			449			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1345C>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.309443	0.00018	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.39787	1.06;1.06	5.14	1.24	0.21308	.	1.108720	0.06957	N	0.815650	T	0.14657	0.0354	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.24404	-1.0161	10	0.18710	T	0.47	.	1.3758	0.02220	0.4221:0.2791:0.1692:0.1296	.	449;467	Q9NR97;D1CS70	TLR8_HUMAN;.	S	449;467	ENSP00000218032:R449S;ENSP00000312082:R467S	ENSP00000218032:R449S	R	+	1	0	TLR8	12848425	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.153000	0.16323	0.337000	0.23665	-0.315000	0.08773	CGT		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		63	9	1	0	8.52622e-23	0.00361	1.63533e-22	63	9				
MAGEB2	4113	broad.mit.edu	37	X	30237129	30237129	+	Missense_Mutation	SNP	G	G	T	rs368299444		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:30237129G>T	ENST00000378988.4	+	2	533	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	144	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGCAAAAGGTTCAGGGAGC	0.458																																							uc004dbz.2		NA																	0				ovary(1)	1						c.(430-432)AGG>AGT		melanoma antigen family B, 2							63.0	59.0	60.0					X																	30237129		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237129G>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.432G>T	X.37:g.30237129G>T	ENSP00000368273:p.Arg144Ser						p.R144S	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	535	+			144			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.432G>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444980	0.25987	.	.	ENSG00000099399	ENST00000378988	T	0.04758	3.56	3.27	-0.877	0.10621	.	0.677378	0.14244	N	0.331910	T	0.04724	0.0128	L	0.59912	1.85	0.09310	N	1	B	0.29232	0.238	B	0.29077	0.098	T	0.36841	-0.9731	10	0.33940	T	0.23	.	2.6244	0.04925	0.2598:0.0:0.3306:0.4096	.	144	O15479	MAGB2_HUMAN	S	144	ENSP00000368273:R144S	ENSP00000368273:R144S	R	+	3	2	MAGEB2	30147050	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	-0.080000	0.11339	-0.339000	0.08401	0.436000	0.28706	AGG		0.458	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		7	8	1	0	0.00198382	0.001984	0.00250656	7	8				
FTHL17	53940	broad.mit.edu	37	X	31089890	31089890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:31089890C>A	ENST00000359202.3	-	1	280	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATTTTGTCGTCCGACAGGCGC	0.577																																							uc004dcl.1		NA																	0					0						c.(181-183)GAC>TAC		ferritin, heavy polypeptide-like 17							81.0	72.0	75.0					X																	31089890		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089890C>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.181G>T	X.37:g.31089890C>A	ENSP00000368207:p.Asp61Tyr						p.D61Y	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	284	-			61			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.181G>T	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	9.711	1.156986	0.21454	.	.	ENSG00000132446	ENST00000359202	T	0.66280	-0.2	3.44	-0.651	0.11454	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	2.063350	0.02443	N	0.084826	T	0.62889	0.2465	M	0.62209	1.925	0.09310	N	1	B	0.29432	0.244	B	0.36030	0.216	T	0.48875	-0.8996	10	0.48119	T	0.1	.	6.5574	0.22468	0.0:0.3187:0.3745:0.3068	.	61	Q9BXU8	FHL17_HUMAN	Y	61	ENSP00000368207:D61Y	ENSP00000368207:D61Y	D	-	1	0	FTHL17	30999811	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.027000	0.12371	-0.288000	0.09051	-0.368000	0.07277	GAC		0.577	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		29	30	1	0	6.04164e-23	0.002096	1.16111e-22	29	30				
FAM47A	158724	broad.mit.edu	37	X	34149868	34149869	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:34149868_34149869GG>AT	ENST00000346193.3	-	1	578_579	c.527_528CC>AT	c.(526-528)cCC>cAT	p.P176H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	176	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CAGGCTCAGTGGGTACCTCTGT	0.584																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(526-528)CCC>CAT		hypothetical protein LOC158724																																				SO:0001583	missense	158724							g.chrX:34149868_34149869GG>AT	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.527_528delinsAT	X.37:g.34149868_34149869delinsAT	ENSP00000345029:p.Pro176His						p.P176H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	560_561	-			176			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	DNP	ENST00000346193.3	37	c.527_528CC>AT	CCDS43926.1																																																																																				0.584	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		34	6	0	0	0	0.004672	0	34	6				
DUSP21	63904	broad.mit.edu	37	X	44703516	44703516	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:44703516T>C	ENST00000339042.4	+	1	268	c.138T>C	c.(136-138)aaT>aaC	p.N46N		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	46	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTCCAGCAATCGCATCACCG	0.522																																							uc004dgd.2		NA																	0				large_intestine(1)|lung(1)	2						c.(136-138)AAT>AAC		dual specificity phosphatase 21							152.0	116.0	128.0					X																	44703516		2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703516T>C	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.138T>C	X.37:g.44703516T>C							p.N46N	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	268	+			46			Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.138T>C	CCDS14264.1																																																																																				0.522	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		49	18	0	0	0	0.00361	0	49	18				
KDM6A	7403	broad.mit.edu	37	X	44966737	44966737	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:44966737G>T	ENST00000377967.4	+	27	4002	c.3961G>T	c.(3961-3963)Ggg>Tgg	p.G1321W	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Missense_Mutation_p.G1328W|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1276W|KDM6A_ENST00000543216.1_Missense_Mutation_p.G1242W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1321					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATATGGCATGGGCGGACAAA	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3961-3963)GGG>TGG		ubiquitously transcribed tetratricopeptide							167.0	139.0	148.0					X																	44966737		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44966737G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3961G>T	X.37:g.44966737G>T	ENSP00000367203:p.Gly1321Trp					KDM6A_uc011mkz.1_Missense_Mutation_p.G1373W|KDM6A_uc011mla.1_Missense_Mutation_p.G1276W|KDM6A_uc011mlb.1_Missense_Mutation_p.G1328W|KDM6A_uc011mlc.1_Missense_Mutation_p.G1025W|KDM6A_uc011mld.1_Missense_Mutation_p.G960W	p.G1321W	NM_021140	NP_066963	O15550	KDM6A_HUMAN			27	4336	+			1321					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3961G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.416573|3.416573	0.62511|0.62511	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797;ENST00000431196	T;T;T;T|.	0.20738|.	2.06;2.05;2.05;2.05|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.162307|.	0.53938|.	D|.	0.000052|.	T|T	0.75700|0.75700	0.3885|0.3885	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.994;0.997;0.999;0.999;0.998|.	P;D;D;D;D|.	0.75020|.	0.87;0.939;0.985;0.913;0.944|.	T|T	0.75213|0.75213	-0.3397|-0.3397	10|5	0.87932|.	D|.	0|.	-8.0653|-8.0653	18.4397|18.4397	0.90662|0.90662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	960;1328;1276;1373;1321|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	W|L	1018;1321;1276;1328;1242|918;963;80	ENSP00000367203:G1321W;ENSP00000437405:G1276W;ENSP00000372355:G1328W;ENSP00000443078:G1242W|.	ENSP00000334340:G1018W|.	G|W	+|+	1|2	0|0	KDM6A|KDM6A	44851681|44851681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.410000|4.410000	0.59774|0.59774	2.295000|2.295000	0.77249|0.77249	0.594000|0.594000	0.82650|0.82650	GGG|TGG		0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		44	6	1	0	8.01111e-26	0.002522	1.57431e-25	44	6				
HEPH	9843	broad.mit.edu	37	X	65479949	65479949	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:65479949A>G	ENST00000343002.2	+	18	3708	c.3044A>G	c.(3043-3045)gAg>gGg	p.E1015G	HEPH_ENST00000374727.3_Missense_Mutation_p.E1018G|HEPH_ENST00000336279.5_Missense_Mutation_p.E748G|HEPH_ENST00000419594.1_Missense_Mutation_p.E826G|HEPH_ENST00000441993.2_Missense_Mutation_p.E1018G|HEPH_ENST00000519389.1_Missense_Mutation_p.E1069G			Q9BQS7	HEPH_HUMAN	hephaestin	1015	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGAATGGCGAGAACTACCGG	0.488																																							uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(3052-3054)GAG>GGG		hephaestin isoform a							98.0	83.0	88.0					X																	65479949		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65479949A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3044A>G	X.37:g.65479949A>G	ENSP00000343939:p.Glu1015Gly					HEPH_uc004dwn.2_Missense_Mutation_p.E1018G|HEPH_uc004dwo.2_Missense_Mutation_p.E748G|HEPH_uc010nkr.2_Missense_Mutation_p.E826G|HEPH_uc011mpa.1_Missense_Mutation_p.E1018G	p.E1018G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3113	+			1015			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3053A>G		.	.	.	.	.	.	.	.	.	.	A	0.894	-0.724388	0.03158	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	4.98	4.98	0.66077	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.639015	0.17442	N	0.174078	D	0.96546	0.8873	N	0.01284	-0.91	0.27076	N	0.9632	B;B;B	0.22851	0.0;0.049;0.076	B;B;B	0.29440	0.002;0.055;0.102	D	0.91027	0.4861	10	0.02654	T	1	.	12.4967	0.55931	1.0:0.0:0.0:0.0	.	1069;826;1015	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	G	1069;1018;748;1018;826;1015	ENSP00000430620:E1069G;ENSP00000363859:E1018G;ENSP00000337418:E748G;ENSP00000411687:E1018G;ENSP00000413211:E826G;ENSP00000343939:E1015G	ENSP00000337418:E748G	E	+	2	0	HEPH	65396674	0.024000	0.19004	0.929000	0.37066	0.432000	0.31715	1.723000	0.38053	1.833000	0.53350	0.486000	0.48141	GAG		0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	37	0	0	0	0.00308	0	6	37				
ZCCHC5	203430	broad.mit.edu	37	X	77913898	77913898	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:77913898G>T	ENST00000321110.1	-	2	315	c.20C>A	c.(19-21)gCc>gAc	p.A7D		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	7							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AATATAGGAGGCTGCTAAGTC	0.463																																							uc004edc.1		NA																	0				ovary(1)	1						c.(19-21)GCC>GAC		zinc finger, CCHC domain containing 5							41.0	34.0	37.0					X																	77913898		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913898G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.20C>A	X.37:g.77913898G>T	ENSP00000316794:p.Ala7Asp						p.A7D	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	316	-			7					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.20C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246556	0.39697	.	.	ENSG00000179300	ENST00000321110	T	0.38240	1.15	3.24	1.44	0.22558	.	.	.	.	.	T	0.34077	0.0885	N	0.24115	0.695	0.30696	N	0.750851	D	0.58268	0.982	P	0.58172	0.834	T	0.33189	-0.9878	9	0.87932	D	0	-0.6532	3.9564	0.09391	0.1437:0.2438:0.6125:0.0	.	7	Q8N8U3	ZCHC5_HUMAN	D	7	ENSP00000316794:A7D	ENSP00000316794:A7D	A	-	2	0	ZCCHC5	77800554	0.931000	0.31567	0.943000	0.38184	0.470000	0.32858	0.290000	0.18975	0.249000	0.21456	-1.211000	0.01629	GCC		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		7	4	1	0	2.0095e-06	0.001984	2.76883e-06	7	4				
POF1B	79983	broad.mit.edu	37	X	84634369	84634369	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:84634369G>T	ENST00000262753.4	-	2	236	c.91C>A	c.(91-93)Cac>Aac	p.H31N	POF1B_ENST00000373145.3_Missense_Mutation_p.H31N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	31						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGGTAGCAGTGGTAATGCTGG	0.557																																							uc004eer.2		NA																	0					0						c.(91-93)CAC>AAC		premature ovarian failure, 1B							66.0	55.0	59.0					X																	84634369		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634369G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.91C>A	X.37:g.84634369G>T	ENSP00000262753:p.His31Asn					POF1B_uc004ees.2_Missense_Mutation_p.H31N	p.H31N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			2	237	-			31					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.91C>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902073	0.33628	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.12361	2.7;2.69	5.37	4.44	0.53790	.	0.273346	0.26072	N	0.026507	T	0.14570	0.0352	L	0.47716	1.5	0.26022	N	0.981852	B;B	0.26195	0.144;0.144	B;B	0.30782	0.076;0.12	T	0.12372	-1.0550	10	0.87932	D	0	.	10.3074	0.43689	0.0:0.1947:0.8053:0.0	.	31;31	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	N	31	ENSP00000262753:H31N;ENSP00000362238:H31N	ENSP00000262753:H31N	H	-	1	0	POF1B	84521025	1.000000	0.71417	0.959000	0.39883	0.003000	0.03518	1.833000	0.39161	2.381000	0.81170	0.538000	0.68166	CAC		0.557	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		3	3	1	0	6.4e-05	0.004672	8.45586e-05	3	3				
RNF128	79589	broad.mit.edu	37	X	106033448	106033448	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:106033448G>T	ENST00000255499.2	+	5	1170	c.920G>T	c.(919-921)tGg>tTg	p.W307L	RNF128_ENST00000324342.3_Missense_Mutation_p.W281L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	307					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTTGACCCATGGCTGTTAGAA	0.318																																							uc004eml.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(919-921)TGG>TTG		ring finger protein 128 isoform 1							125.0	123.0	124.0					X																	106033448		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106033448G>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.920G>T	X.37:g.106033448G>T	ENSP00000255499:p.Trp307Leu					RNF128_uc004emk.2_Missense_Mutation_p.W281L	p.W307L	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			5	1170	+			307			RING-type; atypical.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.920G>T	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945704	0.92593	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.74002	-0.8;-0.8	6.05	6.05	0.98169	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93061	0.6474	9	.	.	.	.	17.9146	0.88945	0.0:0.0:1.0:0.0	.	307;281	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	281;307	ENSP00000316127:W281L;ENSP00000255499:W307L	.	W	+	2	0	RNF128	105920104	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.886000	0.92447	2.556000	0.86216	0.594000	0.82650	TGG		0.318	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		40	16	1	0	2.43277e-16	0.00361	4.25735e-16	40	16				
TRPC5	7224	broad.mit.edu	37	X	111090519	111090519	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:111090519A>G	ENST00000262839.2	-	6	2441	c.1523T>C	c.(1522-1524)aTc>aCc	p.I508T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	508					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCAAAGAGATCTGCAGAGG	0.448																																							uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1522-1524)ATC>ACC		transient receptor potential cation channel,							154.0	137.0	143.0					X																	111090519		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090519A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1523T>C	X.37:g.111090519A>G	ENSP00000262839:p.Ile508Thr					TRPC5_uc004epm.1_Missense_Mutation_p.I508T	p.I508T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			6	2442	-			508			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1523T>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317796	0.81469	.	.	ENSG00000072315	ENST00000262839	D	0.98493	-4.96	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	M	0.91561	3.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.967;0.986	D	0.99387	1.0924	10	0.87932	D	0	-17.8297	14.7304	0.69377	1.0:0.0:0.0:0.0	.	509;508	Q59G51;Q9UL62	.;TRPC5_HUMAN	T	508	ENSP00000262839:I508T	ENSP00000262839:I508T	I	-	2	0	TRPC5	110977175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.288000	0.96055	1.860000	0.53959	0.430000	0.28490	ATC		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		37	7	0	0	0	0.00623	0	37	7				
DCAF12L1	139170	broad.mit.edu	37	X	125685292	125685292	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:125685292G>T	ENST00000371126.1	-	1	1542	c.1300C>A	c.(1300-1302)Cac>Aac	p.H434N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	434										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTAGCAGTGGGTGTAGAGC	0.557																																							uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(1300-1302)CAC>AAC		DDB1 and CUL4 associated factor 12-like 1							130.0	123.0	125.0					X																	125685292		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685292G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1300C>A	X.37:g.125685292G>T	ENSP00000360167:p.His434Asn						p.H434N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1551	-			434					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1300C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691156	0.68271	.	.	ENSG00000198889	ENST00000371126	T	0.27256	1.68	3.85	3.85	0.44370	.	0.000000	0.37857	N	0.001918	T	0.48040	0.1478	M	0.72353	2.195	0.42493	D	0.992904	D	0.69078	0.997	D	0.77004	0.989	T	0.52801	-0.8527	10	0.72032	D	0.01	.	12.8021	0.57593	0.0:0.0:1.0:0.0	.	434	Q5VU92	DC121_HUMAN	N	434	ENSP00000360167:H434N	ENSP00000360167:H434N	H	-	1	0	DCAF12L1	125512973	1.000000	0.71417	0.926000	0.36857	0.842000	0.47809	6.797000	0.75150	2.178000	0.69098	0.513000	0.50165	CAC		0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		56	19	1	0	3.40343e-31	0.00361	7.01911e-31	56	19				
SAGE1	55511	broad.mit.edu	37	X	134994064	134994064	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:134994064G>T	ENST00000370709.3	+	17	2473	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	SAGE1_ENST00000537770.1_Missense_Mutation_p.D449Y|SAGE1_ENST00000324447.3_Missense_Mutation_p.D825Y|SAGE1_ENST00000535938.1_Missense_Mutation_p.D825Y			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	825						nucleus (GO:0005634)		p.D825N(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAAATTAATGATGATATAAA	0.378																																							uc004ezh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2473-2475)GAT>TAT		sarcoma antigen 1							48.0	47.0	47.0					X																	134994064		2203	4297	6500	SO:0001583	missense	55511							g.chrX:134994064G>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2473G>T	X.37:g.134994064G>T	ENSP00000359743:p.Asp825Tyr					SAGE1_uc010nry.1_Missense_Mutation_p.D794Y|SAGE1_uc011mvv.1_Missense_Mutation_p.D449Y	p.D825Y	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2640	+	Acute lymphoblastic leukemia(192;0.000127)		825					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2473G>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340062	0.41398	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.31247	1.5;1.5;1.53;1.5	2.25	-2.04	0.07343	.	0.320337	0.32015	N	0.006715	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	1	P;D	0.64830	0.924;0.994	P;P	0.59825	0.46;0.864	T	0.22452	-1.0216	10	0.49607	T	0.09	.	4.9765	0.14144	0.116:0.0:0.5276:0.3564	.	449;825	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	Y	825;825;449;825	ENSP00000323191:D825Y;ENSP00000445959:D825Y;ENSP00000438276:D449Y;ENSP00000359743:D825Y	ENSP00000323191:D825Y	D	+	1	0	SAGE1	134821730	0.001000	0.12720	0.000000	0.03702	0.777000	0.43975	0.357000	0.20199	-0.952000	0.03649	0.179000	0.17066	GAT		0.378	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		12	5	1	0	0.00010058	0.001368	0.000131951	12	5				
MAGEC3	139081	broad.mit.edu	37	X	140969201	140969201	+	Silent	SNP	C	C	T	rs201684977		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140969201C>T	ENST00000298296.1	+	4	528	c.528C>T	c.(526-528)agC>agT	p.S176S	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	176										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGAGAGCGAGCCCTTGT	0.473													-|||	1	0.000264901	0.0	0.0	3775	,	,		15394	0.001		0.0	False		,,,				2504	0.0						uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(526-528)AGC>AGT		melanoma antigen family C, 3 isoform 1							99.0	100.0	100.0					X																	140969201		2202	4300	6502	SO:0001819	synonymous_variant	139081							g.chrX:140969201C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.528C>T	X.37:g.140969201C>T							p.S176S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	528	+	Acute lymphoblastic leukemia(192;6.56e-05)		176					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.528C>T	CCDS14676.1																																																																																				0.473	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		35	10	0	0	0	0.003755	0	35	10				
MAGEC1	9947	broad.mit.edu	37	X	140993867	140993867	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140993867A>T	ENST00000285879.4	+	4	963	c.677A>T	c.(676-678)gAg>gTg	p.E226V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	226										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTACTTTTGAGGGTTTTGCC	0.493										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(676-678)GAG>GTG		melanoma antigen family C, 1							112.0	113.0	113.0					X																	140993867		2202	4289	6491	SO:0001583	missense	9947						protein binding	g.chrX:140993867A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.677A>T	X.37:g.140993867A>T	ENSP00000285879:p.Glu226Val	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.E226V	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	963	+	Acute lymphoblastic leukemia(192;6.56e-05)		226					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.677A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	4.010	-0.000747	0.07819	.	.	ENSG00000155495	ENST00000285879	T	0.02421	4.3	.	.	.	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.06405	0.002	T	0.46119	-0.9214	8	0.72032	D	0.01	.	4.4859	0.11790	0.9993:0.0:7.0E-4:0.0	.	226	O60732	MAGC1_HUMAN	V	226	ENSP00000285879:E226V	ENSP00000285879:E226V	E	+	2	0	MAGEC1	140821533	0.005000	0.15991	0.024000	0.17045	0.024000	0.10985	1.423000	0.34837	0.046000	0.15833	0.046000	0.15203	GAG		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		40	26	0	0	0	0.00874	0	40	26				
MAGEC1	9947	broad.mit.edu	37	X	140994077	140994077	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140994077A>T	ENST00000285879.4	+	4	1173	c.887A>T	c.(886-888)gAg>gTg	p.E296V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	296										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTACTTTTGAGGGTTTTCCC	0.498										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(886-888)GAG>GTG		melanoma antigen family C, 1							118.0	109.0	112.0					X																	140994077		2199	4292	6491	SO:0001583	missense	9947						protein binding	g.chrX:140994077A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.887A>T	X.37:g.140994077A>T	ENSP00000285879:p.Glu296Val	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.E296V	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1173	+	Acute lymphoblastic leukemia(192;6.56e-05)		296					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.887A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	5.479	0.273446	0.10403	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.22336	4.3;1.96	.	.	.	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.22138	-1.0225	8	0.87932	D	0	.	4.5609	0.12160	0.9995:0.0:5.0E-4:0.0	.	296	O60732	MAGC1_HUMAN	V	296;98;97	ENSP00000285879:E296V;ENSP00000359542:E98V	ENSP00000285879:E296V	E	+	2	0	MAGEC1	140821743	0.479000	0.25925	0.111000	0.21465	0.112000	0.19704	-0.655000	0.05348	0.127000	0.18452	0.126000	0.15802	GAG		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		26	26	0	0	0	0.008361	0	26	26				
SLITRK2	84631	broad.mit.edu	37	X	144904472	144904472	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:144904472G>T	ENST00000370490.1	+	1	4784	c.529G>T	c.(529-531)Gtg>Ttg	p.V177L	SLITRK2_ENST00000413937.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V177L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	177					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)					GCCCAGCAATGTGTTCCGCTT	0.483																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(529-531)GTG>TTG		SLIT and NTRK-like family, member 2 precursor							170.0	130.0	143.0					X																	144904472		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904472G>T	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.529G>T	X.37:g.144904472G>T	ENSP00000359521:p.Val177Leu					SLITRK2_uc010nsp.2_Missense_Mutation_p.V177L|SLITRK2_uc010nso.2_Missense_Mutation_p.V177L|SLITRK2_uc011mwq.1_Missense_Mutation_p.V177L|SLITRK2_uc011mwr.1_Missense_Mutation_p.V177L|SLITRK2_uc011mws.1_Missense_Mutation_p.V177L|SLITRK2_uc004fcg.2_Missense_Mutation_p.V177L|SLITRK2_uc011mwt.1_Missense_Mutation_p.V177L	p.V177L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1519	+	Acute lymphoblastic leukemia(192;6.56e-05)		177			Extracellular (Potential).|LRR 5.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.529G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	3.080	-0.189183	0.06299	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.19	5.19	0.71726	.	0.063354	0.64402	D	0.000010	T	0.31796	0.0808	N	0.17564	0.495	0.43304	D	0.995306	B	0.10296	0.003	B	0.17098	0.017	T	0.11941	-1.0567	10	0.13108	T	0.6	-8.0451	15.0584	0.71933	0.0:0.0:1.0:0.0	.	177	Q9H156	SLIK2_HUMAN	L	177	ENSP00000334374:V177L;ENSP00000411681:V177L;ENSP00000359521:V177L;ENSP00000397015:V177L;ENSP00000407347:V177L;ENSP00000412010:V177L	ENSP00000334374:V177L	V	+	1	0	SLITRK2	144712164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.972000	0.56838	2.141000	0.66446	0.600000	0.82982	GTG		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		31	9	1	0	2.80507e-11	0.002445	4.41718e-11	31	9				
MAGEA11	4110	broad.mit.edu	37	X	148796170	148796170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:148796170C>A	ENST00000355220.5	+	3	228	c.126C>A	c.(124-126)ttC>ttA	p.F42L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F13L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGACGACTTCCAGTCAACAG	0.542																																							uc004fdq.2		NA																	0				ovary(2)	2						c.(124-126)TTC>TTA		melanoma antigen family A, 11 isoform a							61.0	56.0	58.0					X																	148796170		2202	4300	6502	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148796170C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.126C>A	X.37:g.148796170C>A	ENSP00000347358:p.Phe42Leu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F13L	p.F42L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			3	228	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		42					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.126C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	10.86	1.468407	0.26335	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.02944	4.1;4.48;4.43	0.764	-0.261	0.12963	.	.	.	.	.	T	0.01454	0.0047	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.48103	-0.9064	8	0.02654	T	1	.	.	.	.	.	13;42	G5E962;P43364	.;MAGAB_HUMAN	L	13;13;42	ENSP00000391496:F13L;ENSP00000328177:F13L;ENSP00000347358:F42L	ENSP00000328177:F13L	F	+	3	2	MAGEA11	148578235	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.478000	0.06575	-0.175000	0.10725	0.284000	0.19432	TTC		0.542	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		8	4	1	0	4.84862e-15	0.000978	8.25901e-15	8	4				
ANKRD30A	91074	broad.mit.edu	37	10	37430891	37430891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:37430891delG	ENST00000602533.1	+	7	997	c.898delG	c.(898-900)gaafs	p.E300fs	ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.E300fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.E300fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	356					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCAGCAGAAGAAACACCTAG	0.433																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(898-900)GAAfs		ankyrin repeat domain 30A							87.0	87.0	87.0					10																	37430891		1873	4112	5985	SO:0001589	frameshift_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430891delG	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.898delG	10.37:g.37430891delG	ENSP00000473551:p.Glu300fs						p.E300fs	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	997	+			356					Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37	c.898delG																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		18	81	NA	NA	NA	NA	NA	18	81	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736719	4736719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:4736719delC	ENST00000545990.2	-	5	1873	c.1349delG	c.(1348-1350)ggtfs	p.G450fs	AKAP3_ENST00000228850.1_Frame_Shift_Del_p.G450fs|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	450					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AATGTGCTCACCCAGAGTTTT	0.408																																							uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1348-1350)GGTfs		A-kinase anchor protein 3							116.0	112.0	113.0					12																	4736719		2203	4300	6503	SO:0001589	frameshift_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736719delC	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1349delG	12.37:g.4736719delC	ENSP00000440994:p.Gly450fs						p.G450fs	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1578	-			450					O75945|Q86X01|Q9UM61	Frame_Shift_Del	DEL	ENST00000545990.2	37	c.1349delG	CCDS8531.1																																																																																				0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		67	24	NA	NA	NA	NA	NA	67	24	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12871130	12871131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:12871130_12871131insG	ENST00000228872.4	+	1	1073_1074	c.357_358insG	c.(358-360)gggfs	p.G120fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.G120fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	120					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CGCCTTTAATTGGGGCTCCGGC	0.629																																							uc001rat.2		NA																	0				ovary(1)|lung(1)	2						c.(355-360)ATTGGGfs		cyclin-dependent kinase inhibitor 1B																																				SO:0001589	frameshift_variant	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871130_12871131insG	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.361dupG	12.37:g.12871134_12871134dupG	ENSP00000228872:p.Gly120fs						p.I119fs	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	829_830	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	119_120					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.357_358insG	CCDS8653.1																																																																																				0.629	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		28	43	NA	NA	NA	NA	NA	28	43	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49284568	49284598	+	Frame_Shift_Del	DEL	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	-	-	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	ENST00000559471.1	-	18	3412_3442	c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA	c.(3148-3180)gaagaggaagcagaggcgcctgaggtgctggagfs	p.EEEAEAPEVLE1050fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.EEEAEAPEVLE1005fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1050							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CATCCCTGGCTCCAGCACCTCAGGCGCCTCTGCTTCCTCTTCTCCACTTTG	0.532																																							uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(3148-3180)GAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGAGfs		SECIS binding protein 2-like																																				SO:0001589	frameshift_variant	9728							g.chr15:49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA	15.37:g.49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	ENSP00000453854:p.Glu1050fs					SECISBP2L_uc001zxd.1_Frame_Shift_Del_p.E1005fs	p.E1050fs	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3283_3313	-			1050_1060					Q8N767	Frame_Shift_Del	DEL	ENST00000559471.1	37	c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA	CCDS53942.1																																																																																				0.532	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		9	21	NA	NA	NA	NA	NA	9	21	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24231342	24231343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:24231342_24231343insC	ENST00000321728.7	+	17	2099_2100	c.1924_1925insC	c.(1924-1926)accfs	p.T642fs	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	642	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGTGGAACTGACCCCCACTGAT	0.421																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1924-1926)ACCfs		protein kinase C, beta isoform 1	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24231342_24231343insC	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1929dupC	16.37:g.24231347_24231347dupC	ENSP00000318315:p.Thr642fs					PRKCB_uc002dme.2_3'UTR	p.T642fs	NM_212535	NP_997700	P05771	KPCB_HUMAN			17	2121_2122	+			642			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Frame_Shift_Ins	INS	ENST00000321728.7	37	c.1924_1925insC	CCDS10618.1																																																																																				0.421	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		14	36	NA	NA	NA	NA	NA	14	36	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175948	51175948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:51175948delT	ENST00000251020.4	-	2	218	c.185delA	c.(184-186)aagfs	p.K63fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	63					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACAGTTCTTCTTGTGGAGCAG	0.483																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(184-186)AAGfs		sal-like 1 isoform a							83.0	90.0	88.0					16																	51175948		2198	4300	6498	SO:0001589	frameshift_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175948delT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.185delA	16.37:g.51175948delT	ENSP00000251020:p.Lys63fs					SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.K62fs	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	216	-		all_cancers(37;0.0322)	62					Q99881|Q9NSC3|Q9P1R0	Frame_Shift_Del	DEL	ENST00000251020.4	37	c.185delA	CCDS10747.1																																																																																				0.483	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		24	75	NA	NA	NA	NA	NA	24	75	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16029437	16029439	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:16029437_16029439delTTC	ENST00000268712.3	-	15	1848_1850	c.1591_1593delGAA	c.(1591-1593)gaadel	p.E531del	NCOR1_ENST00000395848.1_In_Frame_Del_p.E422del|NCOR1_ENST00000395851.1_In_Frame_Del_p.E531del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	531					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		catctttcttttcttcttctttt	0.271																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1591-1593)GAAdel		nuclear receptor co-repressor 1			,,	15,4181		3,9,2086					,,	4.9	1.0			18	34,8134		12,10,4062	no	coding,coding,coding	NCOR1	NM_006311.3,NM_001190440.1,NM_001190438.1	,,	15,19,6148	A1A1,A1R,RR		0.4163,0.3575,0.3963	,,	,,		49,12315				SO:0001651	inframe_deletion	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16029437_16029439delTTC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1591_1593delGAA	17.37:g.16029443_16029445delTTC	ENSP00000268712:p.Glu531del					NCOR1_uc002gpn.2_In_Frame_Del_p.E531del|NCOR1_uc002gpp.1_In_Frame_Del_p.E422del|NCOR1_uc002gpr.2_In_Frame_Del_p.E422del|NCOR1_uc002gps.1_In_Frame_Del_p.E540del|NCOR1_uc010coz.1_In_Frame_Del_p.E347del|NCOR1_uc010cpb.1_In_Frame_Del_p.E541del|NCOR1_uc010cpa.1_In_Frame_Del_p.E532del	p.E531del	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	15	1831_1833	-			531			Potential.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	In_Frame_Del	DEL	ENST00000268712.3	37	c.1591_1593delGAA	CCDS11175.1																																																																																				0.271	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		3	6	NA	NA	NA	NA	NA	3	6	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60072546	60072547	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:60072546_60072547insTA	ENST00000397786.2	-	10	2223_2224	c.2147_2148insTA	c.(2146-2148)caafs	p.Q716fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	716					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCACTATTTTGTCTATCTTT	0.361																																							uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2146-2148)CAAfs		mediator complex subunit 13																																				SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072546_60072547insTA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2147_2148insTA	17.37:g.60072546_60072547insTA	ENSP00000380888:p.Gln716fs						p.Q716fs	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			10	2224_2225	-			716					B2RU05|O60334	Frame_Shift_Ins	INS	ENST00000397786.2	37	c.2147_2148insTA	CCDS42366.1																																																																																				0.361	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		12	70	NA	NA	NA	NA	NA	12	70	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221314	1221314	+	Frame_Shift_Del	DEL	C	C	-	rs121913321|rs373021819		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:1221314delC	ENST00000326873.7	+	6	2010	c.837delC	c.(835-837)ggcfs	p.G279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.P281fs*6(2)|p.?(2)|p.Y246fs*3(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)		GCGACTGTGGCCCCCCGCTCT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		25	Whole gene deletion(20)|Deletion - Frameshift(3)|Unknown(2)	p.0?(19)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)|p.G279F(1)	cervix(14)|lung(6)|large_intestine(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(835-837)GGCfs		serine/threonine protein kinase 11							37.0	41.0	40.0					19																	1221314		1939	4113	6052	SO:0001589	frameshift_variant	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.chr19:1221314delC	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.837delC	19.37:g.1221314delC	ENSP00000324856:p.Gly279fs	TSP Lung(3;<1E-08)					p.G279fs	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)	6	1952	+		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)	279			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.837delC	CCDS45896.1																																																																																				0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		7	0	NA	NA	NA	NA	NA	7	0	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4513123	4513123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4513123delT	ENST00000301286.3	-	3	806	c.807delA	c.(805-807)aaafs	p.K269fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	269	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGATGGTTCCTTTGGCCACAT	0.547																																							uc002mar.1		NA																	0					0						c.(805-807)AAAfs		plasma membrane associated protein, S3-12							17.0	17.0	17.0					19																	4513123		1727	3717	5444	SO:0001589	frameshift_variant	729359					lipid particle|plasma membrane		g.chr19:4513123delT	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.807delA	19.37:g.4513123delT	ENSP00000301286:p.Lys269fs					PLIN4_uc010dub.1_5'Flank	p.K269fs	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	807	-			269			27 X 33 AA approximate tandem repeat.|6.		A6NEI2	Frame_Shift_Del	DEL	ENST00000301286.3	37	c.807delA	CCDS45927.1																																																																																				0.547	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	43	NA	NA	NA	NA	NA	9	43	---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73493629	73493644	+	Frame_Shift_Del	DEL	CACCTCCACGGCCCAG	CACCTCCACGGCCCAG	-	rs374767626	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CACCTCCACGGCCCAG	CACCTCCACGGCCCAG	-	-	CACCTCCACGGCCCAG	CACCTCCACGGCCCAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:73493629_73493644delCACCTCCACGGCCCAG	ENST00000521871.1	-	3	1487_1502	c.1072_1087delCTGGGCCGTGGAGGTG	c.(1072-1089)ctgggccgtggaggtgggfs	p.LGRGGG358fs	FBXO41_ENST00000295133.5_Frame_Shift_Del_p.LGRGGG419fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.LGRGGG358fs			Q8TF61	FBX41_HUMAN	F-box protein 41	358										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CCACCGCCCCCACCTCCACGGCCCAGGCTGGCGCTG	0.685																																							uc002sjb.1		NA																	0				breast(2)|pancreas(1)	3						c.(1255-1272)CTGGGCCGTGGAGGTGGGfs		F-box protein 41																																				SO:0001589	frameshift_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73493629_73493644delCACCTCCACGGCCCAG	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1072_1087delCTGGGCCGTGGAGGTG	2.37:g.73493629_73493644delCACCTCCACGGCCCAG	ENSP00000428646:p.Leu358fs						p.L419fs	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			3	1255_1270	-			358_363			Poly-Gly.		G3V0Z7|Q2M1V8	Frame_Shift_Del	DEL	ENST00000521871.1	37	c.1255_1270delCTGGGCCGTGGAGGTG	CCDS46337.2																																																																																				0.685	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			6	4	NA	NA	NA	NA	NA	6	4	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31383432	31383457	+	Splice_Site	DEL	CATGCCTTCTTCTTTTCTCAATAGAA	CATGCCTTCTTCTTTTCTCAATAGAA	-	rs199509646		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	CATGCCTTCTTCTTTTCTCAATAGAA	CATGCCTTCTTCTTTTCTCAATAGAA	-	-	CATGCCTTCTTCTTTTCTCAATAGAA	CATGCCTTCTTCTTTTCTCAATAGAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA	ENST00000328111.2	+	12	1573_1575	c.1252_1254delCATGCCTTCTTCTTTTCTCAATAGAA	c.(1252-1254)catdel	p.H418fs	DNMT3B_ENST00000201963.3_Splice_Site_p.H410fs|DNMT3B_ENST00000348286.2_Splice_Site_p.H398fs|DNMT3B_ENST00000375623.4_Splice_Site_p.DM307fs|DNMT3B_ENST00000353855.2_Splice_Site_p.H398fs|DNMT3B_ENST00000344505.4_Splice_Site_p.H398fs|DNMT3B_ENST00000456297.2_Splice_Site_p.H322fs|DNMT3B_ENST00000443239.3_Splice_Site_p.H356fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	418					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTCATCTCATGCCTTCTTCTTTTCTCAATAGAACAAATGGCTT	0.535																																							uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.e12-1		DNA cytosine-5 methyltransferase 3 beta isoform																																				SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1253-1CATGCCTTCTTCTTTTCTCAATAGAA>-	20.37:g.31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA						DNMT3B_uc010ztx.1_Splice_Site|DNMT3B_uc010zty.1_Splice_Site|DNMT3B_uc002wyd.2_Splice_Site_p.E398_splice|DNMT3B_uc002wye.2_Splice_Site_p.E398_splice|DNMT3B_uc010gee.2_Splice_Site|DNMT3B_uc010gef.2_Splice_Site|DNMT3B_uc010ztz.1_Splice_Site_p.E356_splice|DNMT3B_uc010zua.1_Splice_Site_p.E322_splice|DNMT3B_uc002wyf.2_Splice_Site_p.E410_splice|DNMT3B_uc002wyg.2_Splice_Site_p.E117_splice	p.E418_splice	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			12	1574	+								A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	DEL	ENST00000328111.2	37	c.1253_splice	CCDS13205.1																																																																																				0.535	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Frame_Shift_Del	11	71	NA	NA	NA	NA	NA	11	71	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35729270	35729270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:35729270delC	ENST00000187397.4	+	6	757	c.301delC	c.(301-303)caafs	p.Q101fs	ARPP21_ENST00000458225.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000337271.5_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000444190.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000417925.1_Frame_Shift_Del_p.Q101fs	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	101					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCCAGCCTGCAAGAGGAGGA	0.358																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(301-303)CAAfs		cyclic AMP-regulated phosphoprotein, 21 kD							62.0	66.0	65.0					3																	35729270		2199	4295	6494	SO:0001589	frameshift_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35729270delC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.301delC	3.37:g.35729270delC	ENSP00000187397:p.Gln101fs					ARPP21_uc003cga.2_Frame_Shift_Del_p.Q101fs|ARPP21_uc011axy.1_Frame_Shift_Del_p.Q101fs|ARPP21_uc003cgf.2_5'Flank	p.Q101fs	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			6	565	+			101					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Frame_Shift_Del	DEL	ENST00000187397.4	37	c.301delC	CCDS2661.1																																																																																				0.358	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		31	63	NA	NA	NA	NA	NA	31	63	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794944	140794944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140794944delC	ENST00000398610.2	+	1	2202	c.2202delC	c.(2200-2202)ggcfs	p.G735fs	PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	735					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGGAGGCGGCTTGACAG	0.662																																							uc003lkl.1		NA																	0					0						c.(2200-2202)GGCfs		protocadherin gamma subfamily A, 10 isoform 1							58.0	66.0	63.0					5																	140794944		2203	4300	6503	SO:0001589	frameshift_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794944delC		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2202delC	5.37:g.140794944delC	ENSP00000381611:p.Gly735fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Frame_Shift_Del_p.G734fs|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.G734fs	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2202	+			734			Cytoplasmic (Potential).		Q9Y5E0	Frame_Shift_Del	DEL	ENST00000398610.2	37	c.2202delC	CCDS47292.1																																																																																				0.662	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		67	14	NA	NA	NA	NA	NA	67	14	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399674	40399674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:40399674delC	ENST00000338305.6	-	2	1721	c.1179delG	c.(1177-1179)aagfs	p.K393fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	393						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGGCGGGACTTGGGGGGTG	0.672																																							uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1177-1179)AAGfs		leucine rich repeat and fibronectin type III							48.0	45.0	46.0					6																	40399674		2202	4300	6502	SO:0001589	frameshift_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399674delC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1179delG	6.37:g.40399674delC	ENSP00000345985:p.Lys393fs						p.K393fs	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1644	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		393			Extracellular (Potential).		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	ENST00000338305.6	37	c.1179delG	CCDS34443.1																																																																																				0.672	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	37	NA	NA	NA	NA	NA	11	37	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000520360.1_RNA|HOXA10_ENST00000396344.4_5'Flank|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML																																		uc003syx.2		NA		Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				lung(1)|breast(1)	2						c.(895-897)ATTfs		homeobox A11							78.0	79.0	79.0					7																	27222462		2203	4300	6503	SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222462delT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.895delA	7.37:g.27222462delT	ENSP00000006015:p.Ile299fs					HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.I299fs	NM_005523	NP_005514	P31270	HXA11_HUMAN			2	967	-			299			Homeobox.		A4D190	Frame_Shift_Del	DEL	ENST00000006015.3	37	c.895delA	CCDS5411.1																																																																																				0.448	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			7	103	NA	NA	NA	NA	NA	7	103	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94044553	94044553	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:94044553delT	ENST00000297268.6	+	30	2206	c.1735delT	c.(1735-1737)tttfs	p.F579fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	579					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCATGGTGAGTTTGGTCTCCC	0.348										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1735-1737)TTTfs		alpha 2 type I collagen precursor	Collagenase(DB00048)						280.0	260.0	267.0					7																	94044553		2203	4300	6503	SO:0001589	frameshift_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94044553delT	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1735delT	7.37:g.94044553delT	ENSP00000297268:p.Phe579fs	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	p.F579fs	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		30	2206	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		579					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Frame_Shift_Del	DEL	ENST00000297268.6	37	c.1735delT	CCDS34682.1																																																																																				0.348	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		48	230	NA	NA	NA	NA	NA	48	230	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100391834	100391834	+	RNA	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:100391834delG	ENST00000348028.3	+	0	8016				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCAGAGCGGGGGAGGTCT	0.632																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(8077-8079)GCGfs		zonadhesin isoform 3							77.0	85.0	82.0					7																	100391834		2034	4194	6228			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391834delG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391834delG						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Frame_Shift_Del_p.A641fs	p.A2693fs	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		45	8244	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2693			VWFC 5.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37	c.8079delG																																																																																					0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		59	23	NA	NA	NA	NA	NA	59	23	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17513510	17513510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:17513510delT	ENST00000262102.6	-	9	3194	c.2970delA	c.(2968-2970)gaafs	p.E990fs	MTUS1_ENST00000381869.3_Frame_Shift_Del_p.E936fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.E936fs|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.E156fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.E237fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.E135fs|MTUS1_ENST00000400046.1_Frame_Shift_Del_p.E62fs|MTUS1_ENST00000518713.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	990					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGACGAATGCTTCATACACTG	0.433																																							uc003wxv.2		NA																	0				ovary(1)|skin(1)	2						c.(2968-2970)GAAfs		mitochondrial tumor suppressor 1 isoform 1							173.0	156.0	161.0					8																	17513510		1887	4119	6006	SO:0001589	frameshift_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17513510delT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2970delA	8.37:g.17513510delT	ENSP00000262102:p.Glu990fs					MTUS1_uc003wxt.2_Frame_Shift_Del_p.E237fs|MTUS1_uc011kyg.1_Frame_Shift_Del_p.E135fs|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Frame_Shift_Del_p.E936fs|MTUS1_uc003wxs.2_Frame_Shift_Del_p.E156fs	p.E990fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	9	3444	-			990			Potential.		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Del	DEL	ENST00000262102.6	37	c.2970delA	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		35	42	NA	NA	NA	NA	NA	35	42	---	---	---	---
PRKACG	5568	broad.mit.edu	37	9	71628468	71628468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:71628468delG	ENST00000377276.2	-	1	571	c.541delC	c.(541-543)ctgfs	p.L181fs		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCACCTGCAGGTAGCCCTGC	0.637																																					Esophageal Squamous(110;2236 2623 32146)	Esophageal Squamous(110;2236 2623 32146)	uc004agy.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(541-543)CTGfs		protein kinase, cAMP-dependent, catalytic,							42.0	41.0	41.0					9																	71628468		2203	4300	6503	SO:0001589	frameshift_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628468delG	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.541delC	9.37:g.71628468delG	ENSP00000366488:p.Leu181fs						p.L181fs	NM_002732	NP_002723	P22612	KAPCG_HUMAN			1	572	-			181			Protein kinase.		O60850|Q5VZ02|Q86YI1	Frame_Shift_Del	DEL	ENST00000377276.2	37	c.541delC	CCDS6625.1																																																																																				0.637	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			19	2	NA	NA	NA	NA	NA	19	2	---	---	---	---
STRBP	55342	broad.mit.edu	37	9	125935997	125935997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:125935997delG	ENST00000348403.5	-	5	778	c.349delC	c.(349-351)ctgfs	p.L118fs	STRBP_ENST00000447404.2_Frame_Shift_Del_p.L118fs|STRBP_ENST00000360998.3_Frame_Shift_Del_p.L104fs	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	118	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTATTTAACAGGGTCTCTGTG	0.398																																							uc004bns.2		NA																	0				breast(1)|skin(1)	2						c.(349-351)CTGfs		spermatid perinuclear RNA binding protein							202.0	188.0	192.0					9																	125935997		2203	4300	6503	SO:0001589	frameshift_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125935997delG	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.349delC	9.37:g.125935997delG	ENSP00000321347:p.Leu118fs					STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Frame_Shift_Del_p.L103fs|STRBP_uc004bnv.2_Frame_Shift_Del_p.L117fs	p.L117fs	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			5	779	-			117			DZF.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Frame_Shift_Del	DEL	ENST00000348403.5	37	c.349delC	CCDS6851.1																																																																																				0.398	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			60	111	NA	NA	NA	NA	NA	60	111	---	---	---	---
